Incidental Mutation 'FR4737:Vps13b'
| ID |
511731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps13b
|
| Ensembl Gene |
ENSMUSG00000037646 |
| Gene Name |
vacuolar protein sorting 13B |
| Synonyms |
2310042E16Rik, 1810042B05Rik, Coh1, C330002D13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
FR4737 ()
|
| Quality Score |
221.999 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
35371160-35931229 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35846957 bp (GRCm38)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Alanine to Serine
at position 2629
(A2629S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048646]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048646
AA Change: A2629S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045490
Gene: ENSMUSG00000037646
AA Change: A2629S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Chorein_N
|
2 |
120 |
1e-29 |
PFAM |
|
low complexity region
|
128 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
984 |
N/A |
INTRINSIC |
|
low complexity region
|
1007 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1876 |
1883 |
N/A |
INTRINSIC |
|
low complexity region
|
2042 |
2054 |
N/A |
INTRINSIC |
|
low complexity region
|
2414 |
2423 |
N/A |
INTRINSIC |
|
Pfam:SHR-BD
|
2601 |
2700 |
8.4e-10 |
PFAM |
|
low complexity region
|
2954 |
2964 |
N/A |
INTRINSIC |
|
Pfam:VPS13_C
|
3539 |
3706 |
2.6e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227567
|
| Meta Mutation Damage Score |
0.0878 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.8%
- 20x: 97.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 211 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
TCT |
TCTCCT |
12: 110,668,448 (GRCm38) |
|
probably benign |
Het |
| A630001G21Rik |
CTGTT |
CT |
1: 85,723,135 (GRCm38) |
|
probably benign |
Homo |
| Abcb11 |
C |
A |
2: 69,243,518 (GRCm38) |
R1221L |
probably damaging |
Homo |
| Abcb4 |
GAAA |
G |
5: 8,896,597 (GRCm38) |
|
probably benign |
Homo |
| Ahdc1 |
CT |
CTCGT |
4: 133,062,759 (GRCm38) |
|
probably benign |
Homo |
| Alpk3 |
TCT |
TCTACT |
7: 81,077,762 (GRCm38) |
|
probably benign |
Het |
| Amfr |
C |
G |
8: 94,005,159 (GRCm38) |
G30R |
probably damaging |
Homo |
| Ankrd35 |
GC |
GCTAC |
3: 96,683,849 (GRCm38) |
|
probably benign |
Homo |
| Anxa7 |
C |
T |
14: 20,469,411 (GRCm38) |
G113E |
probably damaging |
Homo |
| Apc |
CAATAAAGC |
CAATAAAGCTAATAAAGC |
18: 34,281,999 (GRCm38) |
|
probably benign |
Homo |
| Apol6 |
GTTT |
GTTTCTTT |
15: 77,051,442 (GRCm38) |
|
probably null |
Homo |
| Arpc1b |
GGTGGC |
GGTGGCGTGGC |
5: 145,126,787 (GRCm38) |
|
probably null |
Het |
| AY358078 |
C |
T |
14: 51,805,698 (GRCm38) |
S281L |
unknown |
Homo |
| Blm |
T |
TACCA |
7: 80,463,774 (GRCm38) |
|
probably null |
Het |
| Blm |
ACCTGC |
ACCTGCCTGC |
7: 80,463,771 (GRCm38) |
|
probably null |
Het |
| Bltp1 |
TTATTAT |
TTATTATTATTATTACTATTAT |
3: 37,050,754 (GRCm38) |
|
probably benign |
Het |
| Blzf1 |
TTGT |
TT |
1: 164,303,917 (GRCm38) |
|
probably null |
Homo |
| Btnl10 |
A |
AAGG |
11: 58,923,931 (GRCm38) |
|
probably benign |
Homo |
| Cacna1a |
ACC |
ACCCCC |
8: 84,638,726 (GRCm38) |
|
probably benign |
Homo |
| Cacna1a |
ACC |
ACCGCC |
8: 84,638,720 (GRCm38) |
|
probably benign |
Het |
| Catsper2 |
TTC |
TTCTTTTACTTTGTC |
2: 121,397,540 (GRCm38) |
|
probably benign |
Homo |
| Ccdc170 |
ACC |
ACCTCC |
10: 4,561,023 (GRCm38) |
|
probably benign |
Het |
| Ccdc170 |
AC |
ACCCC |
10: 4,561,029 (GRCm38) |
|
probably benign |
Het |
| Ccdc73 |
TAAG |
T |
2: 104,991,840 (GRCm38) |
|
probably benign |
Homo |
| Ccnk |
TTCCCAC |
T |
12: 108,202,507 (GRCm38) |
|
probably benign |
Het |
| Cdan1 |
A |
C |
2: 120,724,971 (GRCm38) |
V763G |
probably damaging |
Het |
| Cdk6 |
A |
G |
5: 3,344,211 (GRCm38) |
|
probably benign |
Het |
| Cdx1 |
GCTGCT |
GCTGCTTCTGCT |
18: 61,019,878 (GRCm38) |
|
probably benign |
Het |
| Cdx1 |
TGCTGC |
TGCTGCCGCTGC |
18: 61,019,874 (GRCm38) |
|
probably benign |
Het |
| Cfap46 |
CCTTCT |
CCTTCTTCT |
7: 139,638,930 (GRCm38) |
|
probably benign |
Homo |
| Chd4 |
GC |
GCTCCCCC |
6: 125,122,131 (GRCm38) |
|
probably benign |
Homo |
| Cluh |
CC |
CCTGAGGC |
11: 74,669,533 (GRCm38) |
|
probably benign |
Het |
| Cluh |
GAGCCT |
GAGCCTAAGCCT |
11: 74,669,524 (GRCm38) |
|
probably benign |
Het |
| Cluh |
AGCCTG |
AGCCTGCGCCTG |
11: 74,669,519 (GRCm38) |
|
probably benign |
Het |
| Cluh |
CCCCGAGCC |
CCCCGAGCCCGAGCC |
11: 74,669,514 (GRCm38) |
|
probably benign |
Het |
| Cntnap1 |
AGCCCC |
AGCCCCCGCCCC |
11: 101,189,569 (GRCm38) |
|
probably benign |
Het |
| Cntnap1 |
GCCCCA |
GCCCCAACCCCA |
11: 101,189,576 (GRCm38) |
|
probably benign |
Het |
| Cntnap1 |
GCCCCA |
GCCCCACCCCCA |
11: 101,189,582 (GRCm38) |
|
probably benign |
Het |
| Cntnap1 |
CCCAGC |
CCCAGCGCCAGC |
11: 101,189,590 (GRCm38) |
|
probably benign |
Het |
| Cracdl |
C |
A |
1: 37,625,036 (GRCm38) |
E594* |
probably null |
Homo |
| Cracdl |
T |
A |
1: 37,625,035 (GRCm38) |
E594V |
probably benign |
Homo |
| Cul9 |
CTC |
CTCTTC |
17: 46,500,858 (GRCm38) |
|
probably benign |
Het |
| Cul9 |
CTCTTC |
CTCTTCTTC |
17: 46,500,846 (GRCm38) |
|
probably benign |
Het |
| Cyth2 |
C |
A |
7: 45,813,042 (GRCm38) |
S102I |
possibly damaging |
Het |
| Dbr1 |
GGAGG |
GGAGGACGAGG |
9: 99,583,699 (GRCm38) |
|
probably benign |
Het |
| Dbr1 |
AGGAGG |
AGGAGGCGGAGG |
9: 99,583,686 (GRCm38) |
|
probably benign |
Het |
| Dhx8 |
GACCGA |
GACCGATACCGA |
11: 101,738,179 (GRCm38) |
|
probably benign |
Homo |
| Dhx8 |
CGAGAC |
CGAGACGGAGAC |
11: 101,738,182 (GRCm38) |
|
probably benign |
Homo |
| Dhx8 |
GAGACC |
GAGACCCAGACC |
11: 101,738,189 (GRCm38) |
|
probably benign |
Homo |
| Dnaaf9 |
CC |
CCTGC |
2: 130,770,752 (GRCm38) |
|
probably benign |
Het |
| Dnah8 |
CCTCCCG |
C |
17: 30,635,477 (GRCm38) |
|
probably benign |
Homo |
| Dnah8 |
ACTGCCCCT |
ACT |
17: 30,635,465 (GRCm38) |
|
probably benign |
Het |
| Dnajb5 |
AGGTG |
A |
4: 42,957,126 (GRCm38) |
|
probably null |
Het |
| Dusp10 |
G |
T |
1: 184,037,056 (GRCm38) |
C73F |
probably damaging |
Homo |
| E4f1 |
CCG |
CCGACG |
17: 24,455,192 (GRCm38) |
|
probably benign |
Homo |
| Eif3a |
TTA |
TTATTATA |
19: 60,775,289 (GRCm38) |
|
probably benign |
Het |
| Fam81b |
TTC |
TTCGTC |
13: 76,271,319 (GRCm38) |
|
probably benign |
Het |
| Fbxo22 |
G |
A |
9: 55,209,382 (GRCm38) |
R56H |
probably damaging |
Het |
| Fcgr1 |
T |
C |
3: 96,287,094 (GRCm38) |
D159G |
probably benign |
Homo |
| Fcgr1 |
CTTCT |
C |
3: 96,284,504 (GRCm38) |
|
probably null |
Het |
| Fmn1 |
CCTCCT |
CCTCCTACTCCT |
2: 113,525,778 (GRCm38) |
|
probably benign |
Het |
| Fmn1 |
CC |
CCCCCTGC |
2: 113,525,781 (GRCm38) |
|
probably benign |
Het |
| Fmn1 |
CC |
CCTCCTTC |
2: 113,525,784 (GRCm38) |
|
probably benign |
Het |
| G530012D18Rik |
GA |
GACAGAGATA |
1: 85,577,178 (GRCm38) |
|
probably null |
Het |
| Gli3 |
G |
A |
13: 15,644,357 (GRCm38) |
R248H |
probably damaging |
Het |
| Gm16503 |
G |
A |
4: 147,541,253 (GRCm38) |
G68E |
unknown |
Het |
| Gm19345 |
GGATGGCAGGTG |
GG |
7: 19,857,602 (GRCm38) |
|
probably null |
Het |
| Gm4340 |
GCA |
GCAACA |
10: 104,196,077 (GRCm38) |
|
probably benign |
Het |
| Gm4340 |
AGC |
AGCTGC |
10: 104,196,097 (GRCm38) |
|
probably benign |
Het |
| Gm4340 |
AG |
AGCGG |
10: 104,196,100 (GRCm38) |
|
probably benign |
Het |
| Gm6309 |
C |
T |
5: 146,168,183 (GRCm38) |
V307I |
probably benign |
Het |
| Gpatch11 |
AAGAGG |
AAGAGGCAGAGG |
17: 78,842,171 (GRCm38) |
|
probably benign |
Het |
| Gpatch11 |
AGGAA |
AGGAAGCGGAA |
17: 78,842,180 (GRCm38) |
|
probably benign |
Het |
| Hoxa10 |
T |
A |
6: 52,234,186 (GRCm38) |
Q250L |
possibly damaging |
Homo |
| Hrh1 |
T |
C |
6: 114,481,123 (GRCm38) |
I455T |
possibly damaging |
Het |
| Hspa1b |
GCGCC |
GC |
17: 34,957,129 (GRCm38) |
|
probably benign |
Homo |
| Iba57 |
GAAA |
GAAAAA |
11: 59,161,505 (GRCm38) |
|
probably null |
Homo |
| Igf1r |
TGGAGC |
TGGAGCTGGAGAGGGAGC |
7: 68,226,181 (GRCm38) |
|
probably benign |
Het |
| Il17rd |
CGG |
CGGAGG |
14: 27,082,680 (GRCm38) |
|
probably benign |
Het |
| Il2 |
AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 37,125,764 (GRCm38) |
|
probably benign |
Het |
| Il2 |
TGG |
TGGGGCTTGAAGCGG |
3: 37,125,828 (GRCm38) |
|
probably benign |
Het |
| Kcng4 |
G |
T |
8: 119,633,519 (GRCm38) |
Y39* |
probably null |
Homo |
| Klra2 |
G |
GAAATCCACAT |
6: 131,221,852 (GRCm38) |
|
probably null |
Het |
| Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,586,366 (GRCm38) |
|
probably benign |
Het |
| Kmt2b |
CCTCCT |
CCTCCTTCTCCT |
7: 30,586,367 (GRCm38) |
|
probably benign |
Het |
| Kmt2b |
CCTCCT |
CCTCCTGCTCCT |
7: 30,586,370 (GRCm38) |
|
probably benign |
Het |
| Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,586,378 (GRCm38) |
|
probably benign |
Het |
| Krt10 |
TCC |
TCCTCCACC |
11: 99,389,279 (GRCm38) |
|
probably benign |
Homo |
| Krt10 |
TCCGCC |
TCCGCCGCC |
11: 99,386,197 (GRCm38) |
|
probably benign |
Homo |
| Krt10 |
TCCTCC |
TCCTCCGCCTCC |
11: 99,389,273 (GRCm38) |
|
probably benign |
Het |
| Krtap28-10 |
TCCCACA |
TCCCACACCCACA |
1: 83,042,123 (GRCm38) |
|
probably benign |
Homo |
| Krtap4-2 |
A |
ACAC |
11: 99,635,013 (GRCm38) |
|
probably benign |
Het |
| Krtap9-3 |
AC |
ACAGGTGTCGC |
11: 99,598,004 (GRCm38) |
|
probably benign |
Het |
| Las1l |
GAG |
GAGCAG |
X: 95,940,829 (GRCm38) |
|
probably benign |
Het |
| Las1l |
AGG |
AGGCGG |
X: 95,940,827 (GRCm38) |
|
probably benign |
Het |
| Las1l |
AGG |
AGGGGG |
X: 95,940,821 (GRCm38) |
|
probably benign |
Het |
| Lrit3 |
TGC |
TGCAGC |
3: 129,788,806 (GRCm38) |
|
probably benign |
Het |
| Lrit3 |
GCT |
GCTTCT |
3: 129,788,810 (GRCm38) |
|
probably benign |
Het |
| Lrit3 |
AC |
ACATTC |
3: 129,803,913 (GRCm38) |
|
probably null |
Homo |
| Luzp1 |
A |
AGGTGGCCTCTTCAGT |
4: 136,543,196 (GRCm38) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCAACA |
X: 71,118,839 (GRCm38) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 71,118,835 (GRCm38) |
|
probably benign |
Het |
| Mapk8ip3 |
G |
A |
17: 24,902,119 (GRCm38) |
|
probably null |
Homo |
| Mbd1 |
TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC |
TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC |
18: 74,273,573 (GRCm38) |
|
probably benign |
Het |
| Nat8f2 |
T |
A |
6: 85,867,686 (GRCm38) |
L231F |
possibly damaging |
Homo |
| Nfxl1 |
CC |
CCGGGGAC |
5: 72,559,121 (GRCm38) |
|
probably benign |
Het |
| Noc2l |
GGTAG |
GG |
4: 156,241,501 (GRCm38) |
|
probably benign |
Homo |
| Noc2l |
CTG |
CTGTTG |
4: 156,240,095 (GRCm38) |
|
probably benign |
Het |
| Noc2l |
GCT |
GCTTCT |
4: 156,240,094 (GRCm38) |
|
probably benign |
Het |
| Nxpe5 |
C |
T |
5: 138,229,934 (GRCm38) |
|
probably benign |
Het |
| Or10j2 |
GGGCTGCTTGTGGCAAT |
G |
1: 173,270,630 (GRCm38) |
|
probably null |
Het |
| Or51a43 |
G |
C |
7: 104,071,292 (GRCm38) |
|
probably benign |
Homo |
| Or51f2 |
CT |
CTAATTGCCTT |
7: 102,877,233 (GRCm38) |
|
probably benign |
Homo |
| Or8b41 |
A |
G |
9: 38,143,188 (GRCm38) |
I13V |
probably benign |
Homo |
| Or8u3-ps |
CAG |
CAGAG |
2: 86,122,760 (GRCm38) |
|
probably null |
Homo |
| Osmr |
C |
CTCA |
15: 6,837,706 (GRCm38) |
|
probably null |
Homo |
| Patl2 |
GC |
GCTAC |
2: 122,126,144 (GRCm38) |
|
probably null |
Het |
| Patl2 |
C |
CTGA |
2: 122,126,145 (GRCm38) |
|
probably benign |
Het |
| Patl2 |
CTG |
CTGTTG |
2: 122,126,136 (GRCm38) |
|
probably benign |
Het |
| Pdik1l |
GTTTTTGTTTT |
GTTTTTGTTTTTTTTTTGTTTT |
4: 134,279,367 (GRCm38) |
|
probably null |
Homo |
| Pdik1l |
ACCACC |
ACCACCCCCACC |
4: 134,279,506 (GRCm38) |
|
probably benign |
Het |
| Phc1 |
GCTG |
GCTGCTTCTG |
6: 122,323,598 (GRCm38) |
|
probably benign |
Het |
| Piezo1 |
G |
A |
8: 122,495,569 (GRCm38) |
R503W |
probably damaging |
Homo |
| Pitrm1 |
TTTTA |
T |
13: 6,560,596 (GRCm38) |
|
probably benign |
Homo |
| Pkdrej |
TG |
TGGGAGCG |
15: 85,819,680 (GRCm38) |
|
probably benign |
Homo |
| Pla2g4e |
AGGG |
A |
2: 120,244,724 (GRCm38) |
|
probably benign |
Homo |
| Plekhs1 |
AC |
ACCTCCCCCGAGCC |
19: 56,479,863 (GRCm38) |
|
probably benign |
Het |
| Pnma8a |
CCTCATGATGCACCTGCTTCAACATC |
CCTCATGATGCACCTGCTTCAACATCTCATGATGCACCTGCTTCAACATC |
7: 16,961,425 (GRCm38) |
|
probably benign |
Homo |
| Pnma8b |
TGGA |
T |
7: 16,946,006 (GRCm38) |
|
probably benign |
Het |
| Ppp1r3f |
C |
A |
X: 7,560,336 (GRCm38) |
G562V |
probably damaging |
Homo |
| Prr13 |
CTC |
CTCATC |
15: 102,462,173 (GRCm38) |
|
probably benign |
Het |
| Prss41 |
CACA |
C |
17: 23,844,097 (GRCm38) |
|
probably benign |
Het |
| Prtg |
GTAAC |
G |
9: 72,857,081 (GRCm38) |
|
probably benign |
Het |
| Ptk2b |
C |
T |
14: 66,173,849 (GRCm38) |
R411Q |
possibly damaging |
Homo |
| Ptms |
C |
CTTG |
6: 124,914,461 (GRCm38) |
|
probably benign |
Homo |
| Ptms |
TTC |
TTCGTC |
6: 124,914,459 (GRCm38) |
|
probably benign |
Homo |
| Ptms |
TCT |
TCTGCT |
6: 124,914,457 (GRCm38) |
|
probably benign |
Homo |
| Ptpn23 |
G |
T |
9: 110,387,633 (GRCm38) |
P1052T |
probably benign |
Homo |
| Rab3il1 |
C |
A |
19: 10,033,751 (GRCm38) |
A264E |
probably damaging |
Homo |
| Rbm6 |
GCTGT |
G |
9: 107,782,755 (GRCm38) |
|
probably null |
Homo |
| Rtbdn |
GGC |
GGCAGCTGC |
8: 84,956,177 (GRCm38) |
|
probably benign |
Het |
| Rtbdn |
CGGC |
CGGCAGGGGC |
8: 84,956,176 (GRCm38) |
|
probably benign |
Het |
| Rtbdn |
AGCG |
AGCGTCCGCG |
8: 84,956,168 (GRCm38) |
|
probably benign |
Het |
| Rtbdn |
TAG |
TAGGGGCAG |
8: 84,956,161 (GRCm38) |
|
probably benign |
Het |
| Sbp |
G |
GCTGACAACAAAGATC |
17: 23,945,389 (GRCm38) |
|
probably benign |
Het |
| Sbp |
CAAAG |
CAAAGCTGCTGACAAAAAAG |
17: 23,945,382 (GRCm38) |
|
probably benign |
Het |
| Setd1a |
GTGGTAGTG |
GTGGTAGTGTTGGTAGTG |
7: 127,785,312 (GRCm38) |
|
probably benign |
Het |
| Sfswap |
GCCCACTC |
GCCCACTCATCCCACTC |
5: 129,569,756 (GRCm38) |
|
probably benign |
Het |
| Six3 |
CGG |
CGGGGG |
17: 85,621,368 (GRCm38) |
|
probably benign |
Het |
| Six3 |
CGG |
CGGGGG |
17: 85,621,365 (GRCm38) |
|
probably benign |
Het |
| Six3 |
GGC |
GGCAGC |
17: 85,621,363 (GRCm38) |
|
probably benign |
Het |
| Six3 |
CGG |
CGGGGG |
17: 85,621,362 (GRCm38) |
|
probably benign |
Het |
| Six3 |
GCG |
GCGCCG |
17: 85,621,358 (GRCm38) |
|
probably benign |
Het |
| Six3 |
GGC |
GGCAGC |
17: 85,621,357 (GRCm38) |
|
probably benign |
Het |
| Slc12a1 |
ACC |
ACCTTTGGCCACAACTCC |
2: 125,154,214 (GRCm38) |
|
probably benign |
Homo |
| Smarca2 |
CAGCAGCAGCAGCAGCAGCA |
CAGCAGCAGCAGCAGCAGCAGCAGCA |
19: 26,630,999 (GRCm38) |
|
probably benign |
Homo |
| Spaca1 |
TCGCTC |
TCGCTCGCGCTC |
4: 34,049,836 (GRCm38) |
|
probably benign |
Het |
| Spag1 |
TTC |
TTCGTC |
15: 36,197,733 (GRCm38) |
|
probably benign |
Het |
| Spag17 |
AGG |
AGGCGG |
3: 100,056,257 (GRCm38) |
|
probably benign |
Het |
| Spata31h1 |
TTCA |
T |
10: 82,285,469 (GRCm38) |
|
probably benign |
Homo |
| Srebf2 |
G |
T |
15: 82,185,335 (GRCm38) |
A693S |
probably damaging |
Homo |
| Srpk2 |
T |
C |
5: 23,545,196 (GRCm38) |
|
probably null |
Homo |
| Sry |
AACTGCT |
A |
Y: 2,663,195 (GRCm38) |
|
probably benign |
Het |
| Sry |
TGG |
TGGGGG |
Y: 2,662,838 (GRCm38) |
|
probably benign |
Homo |
| Sry |
GTG |
GTGTTG |
Y: 2,662,837 (GRCm38) |
|
probably benign |
Homo |
| St5 |
CACCACACTGGGGCAGCCCACACTGGGGCAG |
CCCCACACTGGGGCAG |
7: 109,556,921 (GRCm38) |
|
probably benign |
Het |
| Stard9 |
C |
CTAAGGGACTAGTAGG |
2: 120,696,085 (GRCm38) |
|
probably benign |
Het |
| Supt20 |
GCAGCA |
GCAGCAACAGCA |
3: 54,727,657 (GRCm38) |
|
probably benign |
Het |
| Supt20 |
CAGCAG |
CAGCAGGAGCAG |
3: 54,727,658 (GRCm38) |
|
probably benign |
Het |
| Supt20 |
CAGCAG |
CAGCAGAAGCAG |
3: 54,727,661 (GRCm38) |
|
probably benign |
Het |
| Tcof1 |
GGGTA |
G |
18: 60,828,650 (GRCm38) |
|
probably benign |
Homo |
| Tdpoz3 |
A |
C |
3: 93,826,674 (GRCm38) |
N219H |
probably benign |
Het |
| Tesk1 |
C |
CCCCG |
4: 43,447,004 (GRCm38) |
|
probably null |
Homo |
| Tob1 |
CACA |
CACAACA |
11: 94,214,451 (GRCm38) |
|
probably benign |
Het |
| Tob1 |
GCA |
GCAACA |
11: 94,214,464 (GRCm38) |
|
probably benign |
Het |
| Tob1 |
A |
AGCC |
11: 94,214,478 (GRCm38) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
AG |
AGAGG |
14: 53,649,756 (GRCm38) |
|
probably benign |
Homo |
| Trav15-2-dv6-2 |
G |
GAAA |
14: 53,649,757 (GRCm38) |
|
probably benign |
Homo |
| Trim63 |
GAGT |
G |
4: 134,327,725 (GRCm38) |
|
probably benign |
Het |
| Tsbp1 |
CAG |
CAGAAG |
17: 34,460,051 (GRCm38) |
|
probably benign |
Het |
| Tsbp1 |
GCA |
GCATCA |
17: 34,460,068 (GRCm38) |
|
probably benign |
Het |
| Tsen2 |
G |
GAGA |
6: 115,560,077 (GRCm38) |
|
probably benign |
Het |
| Ttf2 |
TC |
TCCCC |
3: 100,963,160 (GRCm38) |
|
probably benign |
Homo |
| Tusc1 |
ACCGCC |
ACCGCCCCCGCC |
4: 93,335,313 (GRCm38) |
|
probably benign |
Homo |
| Ubqlnl |
TGAG |
T |
7: 104,149,835 (GRCm38) |
|
probably benign |
Homo |
| Ubtf |
CCT |
CCTACT |
11: 102,306,948 (GRCm38) |
|
probably null |
Het |
| Ubtf |
TCC |
TCCACC |
11: 102,306,950 (GRCm38) |
|
probably benign |
Het |
| Wasf3 |
G |
T |
5: 146,470,250 (GRCm38) |
R460L |
probably damaging |
Het |
| Zc3h13 |
TGCGAGATG |
TGCGAGATGAGCGAGATG |
14: 75,323,599 (GRCm38) |
|
probably benign |
Homo |
| Zc3h13 |
ATGTGCGAG |
ATGTGCGAGGTGTGCGAG |
14: 75,323,596 (GRCm38) |
|
probably benign |
Homo |
| Zfhx3 |
GCAACA |
GCAACAACAACAACA |
8: 108,956,088 (GRCm38) |
|
probably benign |
Het |
| Zfhx3 |
AGCA |
AGCAACAGACGCA |
8: 108,956,102 (GRCm38) |
|
probably benign |
Het |
| Zfhx3 |
GCA |
GCAACAGCACCA |
8: 108,956,103 (GRCm38) |
|
probably benign |
Het |
| Zfp111 |
TCA |
TCAACA |
7: 24,199,805 (GRCm38) |
|
probably benign |
Homo |
| Zfp112 |
CATGA |
CATGATGA |
7: 24,125,407 (GRCm38) |
|
probably benign |
Homo |
| Zfp26 |
C |
A |
9: 20,438,546 (GRCm38) |
A241S |
probably benign |
Homo |
| Zfp282 |
CGG |
CGGGGG |
6: 47,904,799 (GRCm38) |
|
probably benign |
Het |
| Zfp282 |
CGG |
CGGGGG |
6: 47,904,790 (GRCm38) |
|
probably benign |
Het |
| Zfp335 |
TC |
TCCCC |
2: 164,907,484 (GRCm38) |
|
probably benign |
Het |
| Zfp335 |
TCC |
TCCGCC |
2: 164,907,475 (GRCm38) |
|
probably benign |
Het |
| Zfp335 |
CTC |
CTCGTC |
2: 164,907,474 (GRCm38) |
|
probably benign |
Het |
| Zfp462 |
CCACC |
CCACCTCAGCCACAGTCACC |
4: 55,009,758 (GRCm38) |
|
probably benign |
Het |
| Zfp462 |
ACC |
ACCTCAGCCACAGTCGCC |
4: 55,009,760 (GRCm38) |
|
probably benign |
Het |
| Zfp598 |
AC |
ACCACCGC |
17: 24,680,791 (GRCm38) |
|
probably benign |
Het |
| Zfp598 |
ACCACC |
ACCACCGCCACC |
17: 24,680,782 (GRCm38) |
|
probably benign |
Het |
| Zfp598 |
ACCACC |
ACCACCCCCACC |
17: 24,680,776 (GRCm38) |
|
probably benign |
Het |
| Zfp831 |
TC |
TCCGC |
2: 174,645,483 (GRCm38) |
|
probably benign |
Het |
| Zfp831 |
CTC |
CTCATC |
2: 174,645,476 (GRCm38) |
|
probably benign |
Het |
| Zfp831 |
TCC |
TCCCCC |
2: 174,645,471 (GRCm38) |
|
probably benign |
Het |
| Zfp93 |
CAGGCATAG |
CAG |
7: 24,275,389 (GRCm38) |
|
probably benign |
Homo |
| Zscan10 |
TGACG |
TG |
17: 23,609,445 (GRCm38) |
|
probably benign |
Homo |
|
| Other mutations in Vps13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Vps13b
|
APN |
15 |
35,926,226 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL00513:Vps13b
|
APN |
15 |
35,793,884 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00516:Vps13b
|
APN |
15 |
35,640,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00640:Vps13b
|
APN |
15 |
35,417,577 (GRCm38) |
missense |
probably benign |
|
|
IGL00753:Vps13b
|
APN |
15 |
35,372,031 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00784:Vps13b
|
APN |
15 |
35,846,900 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01138:Vps13b
|
APN |
15 |
35,446,770 (GRCm38) |
splice site |
probably benign |
|
|
IGL01349:Vps13b
|
APN |
15 |
35,793,945 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01403:Vps13b
|
APN |
15 |
35,709,479 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01535:Vps13b
|
APN |
15 |
35,454,957 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL01571:Vps13b
|
APN |
15 |
35,877,489 (GRCm38) |
splice site |
probably benign |
|
|
IGL01642:Vps13b
|
APN |
15 |
35,792,072 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL01658:Vps13b
|
APN |
15 |
35,671,333 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01759:Vps13b
|
APN |
15 |
35,878,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01763:Vps13b
|
APN |
15 |
35,709,799 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL01906:Vps13b
|
APN |
15 |
35,639,847 (GRCm38) |
splice site |
probably benign |
|
|
IGL01982:Vps13b
|
APN |
15 |
35,438,904 (GRCm38) |
nonsense |
probably null |
|
|
IGL01997:Vps13b
|
APN |
15 |
35,709,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02041:Vps13b
|
APN |
15 |
35,423,245 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02073:Vps13b
|
APN |
15 |
35,875,586 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL02077:Vps13b
|
APN |
15 |
35,910,613 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02141:Vps13b
|
APN |
15 |
35,572,081 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02146:Vps13b
|
APN |
15 |
35,646,333 (GRCm38) |
missense |
probably benign |
0.36 |
|
IGL02197:Vps13b
|
APN |
15 |
35,930,056 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02311:Vps13b
|
APN |
15 |
35,709,514 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02466:Vps13b
|
APN |
15 |
35,770,741 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL02506:Vps13b
|
APN |
15 |
35,917,162 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02550:Vps13b
|
APN |
15 |
35,572,096 (GRCm38) |
missense |
probably benign |
|
|
IGL02553:Vps13b
|
APN |
15 |
35,646,301 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02674:Vps13b
|
APN |
15 |
35,639,958 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL02690:Vps13b
|
APN |
15 |
35,917,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02731:Vps13b
|
APN |
15 |
35,917,128 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02739:Vps13b
|
APN |
15 |
35,879,900 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02868:Vps13b
|
APN |
15 |
35,884,519 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03081:Vps13b
|
APN |
15 |
35,875,820 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03178:Vps13b
|
APN |
15 |
35,869,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03343:Vps13b
|
APN |
15 |
35,917,170 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL03407:Vps13b
|
APN |
15 |
35,639,866 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03410:Vps13b
|
APN |
15 |
35,910,340 (GRCm38) |
missense |
probably benign |
|
|
omlette
|
UTSW |
15 |
35,671,400 (GRCm38) |
missense |
probably benign |
0.13 |
|
swiss
|
UTSW |
15 |
35,709,673 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
FR4449:Vps13b
|
UTSW |
15 |
35,846,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
FR4548:Vps13b
|
UTSW |
15 |
35,846,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
FR4976:Vps13b
|
UTSW |
15 |
35,846,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
LCD18:Vps13b
|
UTSW |
15 |
35,846,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4531001:Vps13b
|
UTSW |
15 |
35,878,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Vps13b
|
UTSW |
15 |
35,534,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4618001:Vps13b
|
UTSW |
15 |
35,709,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0026:Vps13b
|
UTSW |
15 |
35,923,301 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R0026:Vps13b
|
UTSW |
15 |
35,923,301 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R0108:Vps13b
|
UTSW |
15 |
35,572,119 (GRCm38) |
missense |
probably benign |
0.20 |
|
R0109:Vps13b
|
UTSW |
15 |
35,572,119 (GRCm38) |
missense |
probably benign |
0.20 |
|
R0109:Vps13b
|
UTSW |
15 |
35,572,119 (GRCm38) |
missense |
probably benign |
0.20 |
|
R0116:Vps13b
|
UTSW |
15 |
35,423,155 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0123:Vps13b
|
UTSW |
15 |
35,887,261 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0124:Vps13b
|
UTSW |
15 |
35,576,528 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0134:Vps13b
|
UTSW |
15 |
35,887,261 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0137:Vps13b
|
UTSW |
15 |
35,926,219 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0195:Vps13b
|
UTSW |
15 |
35,471,899 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0225:Vps13b
|
UTSW |
15 |
35,887,261 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0320:Vps13b
|
UTSW |
15 |
35,674,828 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0333:Vps13b
|
UTSW |
15 |
35,879,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0336:Vps13b
|
UTSW |
15 |
35,455,133 (GRCm38) |
nonsense |
probably null |
|
|
R0463:Vps13b
|
UTSW |
15 |
35,597,409 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0466:Vps13b
|
UTSW |
15 |
35,445,602 (GRCm38) |
nonsense |
probably null |
|
|
R0472:Vps13b
|
UTSW |
15 |
35,417,633 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0523:Vps13b
|
UTSW |
15 |
35,472,050 (GRCm38) |
missense |
probably benign |
0.20 |
|
R0602:Vps13b
|
UTSW |
15 |
35,422,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0612:Vps13b
|
UTSW |
15 |
35,623,657 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0627:Vps13b
|
UTSW |
15 |
35,371,999 (GRCm38) |
nonsense |
probably null |
|
|
R0679:Vps13b
|
UTSW |
15 |
35,709,703 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0742:Vps13b
|
UTSW |
15 |
35,794,361 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1053:Vps13b
|
UTSW |
15 |
35,652,363 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1355:Vps13b
|
UTSW |
15 |
35,422,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1386:Vps13b
|
UTSW |
15 |
35,923,312 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1403:Vps13b
|
UTSW |
15 |
35,709,122 (GRCm38) |
splice site |
probably benign |
|
|
R1453:Vps13b
|
UTSW |
15 |
35,422,444 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1464:Vps13b
|
UTSW |
15 |
35,709,484 (GRCm38) |
missense |
probably benign |
0.14 |
|
R1464:Vps13b
|
UTSW |
15 |
35,709,484 (GRCm38) |
missense |
probably benign |
0.14 |
|
R1511:Vps13b
|
UTSW |
15 |
35,841,573 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1511:Vps13b
|
UTSW |
15 |
35,839,975 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1513:Vps13b
|
UTSW |
15 |
35,438,730 (GRCm38) |
nonsense |
probably null |
|
|
R1536:Vps13b
|
UTSW |
15 |
35,875,566 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1537:Vps13b
|
UTSW |
15 |
35,792,181 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R1558:Vps13b
|
UTSW |
15 |
35,534,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1601:Vps13b
|
UTSW |
15 |
35,642,436 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1653:Vps13b
|
UTSW |
15 |
35,607,272 (GRCm38) |
nonsense |
probably null |
|
|
R1695:Vps13b
|
UTSW |
15 |
35,576,521 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1760:Vps13b
|
UTSW |
15 |
35,884,619 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R1785:Vps13b
|
UTSW |
15 |
35,879,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1786:Vps13b
|
UTSW |
15 |
35,879,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1803:Vps13b
|
UTSW |
15 |
35,430,205 (GRCm38) |
nonsense |
probably null |
|
|
R1804:Vps13b
|
UTSW |
15 |
35,917,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1808:Vps13b
|
UTSW |
15 |
35,792,059 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1817:Vps13b
|
UTSW |
15 |
35,910,642 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1818:Vps13b
|
UTSW |
15 |
35,877,577 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1836:Vps13b
|
UTSW |
15 |
35,910,232 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1850:Vps13b
|
UTSW |
15 |
35,674,959 (GRCm38) |
splice site |
probably benign |
|
|
R1884:Vps13b
|
UTSW |
15 |
35,430,291 (GRCm38) |
splice site |
probably benign |
|
|
R1938:Vps13b
|
UTSW |
15 |
35,709,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1955:Vps13b
|
UTSW |
15 |
35,925,408 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1956:Vps13b
|
UTSW |
15 |
35,869,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1958:Vps13b
|
UTSW |
15 |
35,878,689 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2013:Vps13b
|
UTSW |
15 |
35,607,142 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2014:Vps13b
|
UTSW |
15 |
35,607,142 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2015:Vps13b
|
UTSW |
15 |
35,607,142 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2038:Vps13b
|
UTSW |
15 |
35,884,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2058:Vps13b
|
UTSW |
15 |
35,841,447 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2082:Vps13b
|
UTSW |
15 |
35,910,746 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R2087:Vps13b
|
UTSW |
15 |
35,597,493 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2124:Vps13b
|
UTSW |
15 |
35,646,080 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2130:Vps13b
|
UTSW |
15 |
35,671,400 (GRCm38) |
missense |
probably benign |
0.13 |
|
R2168:Vps13b
|
UTSW |
15 |
35,792,188 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2168:Vps13b
|
UTSW |
15 |
35,792,189 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2171:Vps13b
|
UTSW |
15 |
35,887,197 (GRCm38) |
missense |
probably benign |
0.44 |
|
R2221:Vps13b
|
UTSW |
15 |
35,884,597 (GRCm38) |
missense |
probably benign |
|
|
R2263:Vps13b
|
UTSW |
15 |
35,646,181 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2289:Vps13b
|
UTSW |
15 |
35,572,105 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2316:Vps13b
|
UTSW |
15 |
35,674,899 (GRCm38) |
nonsense |
probably null |
|
|
R2351:Vps13b
|
UTSW |
15 |
35,869,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2512:Vps13b
|
UTSW |
15 |
35,884,555 (GRCm38) |
missense |
probably benign |
0.35 |
|
R3054:Vps13b
|
UTSW |
15 |
35,646,361 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3055:Vps13b
|
UTSW |
15 |
35,646,361 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3196:Vps13b
|
UTSW |
15 |
35,869,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3236:Vps13b
|
UTSW |
15 |
35,910,304 (GRCm38) |
missense |
probably benign |
0.40 |
|
R3404:Vps13b
|
UTSW |
15 |
35,926,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3722:Vps13b
|
UTSW |
15 |
35,671,382 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4077:Vps13b
|
UTSW |
15 |
35,455,128 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4153:Vps13b
|
UTSW |
15 |
35,792,027 (GRCm38) |
splice site |
probably null |
|
|
R4224:Vps13b
|
UTSW |
15 |
35,876,419 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4408:Vps13b
|
UTSW |
15 |
35,709,294 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4431:Vps13b
|
UTSW |
15 |
35,770,753 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4449:Vps13b
|
UTSW |
15 |
35,876,793 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4508:Vps13b
|
UTSW |
15 |
35,709,673 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4631:Vps13b
|
UTSW |
15 |
35,646,132 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4655:Vps13b
|
UTSW |
15 |
35,770,689 (GRCm38) |
missense |
probably benign |
|
|
R4666:Vps13b
|
UTSW |
15 |
35,640,544 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4684:Vps13b
|
UTSW |
15 |
35,879,821 (GRCm38) |
missense |
probably benign |
|
|
R4684:Vps13b
|
UTSW |
15 |
35,841,341 (GRCm38) |
missense |
probably benign |
|
|
R4684:Vps13b
|
UTSW |
15 |
35,646,178 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4721:Vps13b
|
UTSW |
15 |
35,910,718 (GRCm38) |
nonsense |
probably null |
|
|
R4771:Vps13b
|
UTSW |
15 |
35,910,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4830:Vps13b
|
UTSW |
15 |
35,452,224 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4835:Vps13b
|
UTSW |
15 |
35,869,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4835:Vps13b
|
UTSW |
15 |
35,910,293 (GRCm38) |
missense |
probably benign |
|
|
R4857:Vps13b
|
UTSW |
15 |
35,456,654 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4891:Vps13b
|
UTSW |
15 |
35,640,515 (GRCm38) |
splice site |
probably null |
|
|
R5095:Vps13b
|
UTSW |
15 |
35,923,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5110:Vps13b
|
UTSW |
15 |
35,770,809 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5147:Vps13b
|
UTSW |
15 |
35,456,678 (GRCm38) |
missense |
probably benign |
0.32 |
|
R5153:Vps13b
|
UTSW |
15 |
35,422,453 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5257:Vps13b
|
UTSW |
15 |
35,794,421 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5258:Vps13b
|
UTSW |
15 |
35,794,421 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5296:Vps13b
|
UTSW |
15 |
35,876,413 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5386:Vps13b
|
UTSW |
15 |
35,640,528 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5396:Vps13b
|
UTSW |
15 |
35,886,948 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5412:Vps13b
|
UTSW |
15 |
35,533,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5488:Vps13b
|
UTSW |
15 |
35,770,542 (GRCm38) |
missense |
probably benign |
|
|
R5489:Vps13b
|
UTSW |
15 |
35,770,542 (GRCm38) |
missense |
probably benign |
|
|
R5503:Vps13b
|
UTSW |
15 |
35,452,166 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5575:Vps13b
|
UTSW |
15 |
35,929,919 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5781:Vps13b
|
UTSW |
15 |
35,794,035 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5872:Vps13b
|
UTSW |
15 |
35,869,351 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5876:Vps13b
|
UTSW |
15 |
35,917,061 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5994:Vps13b
|
UTSW |
15 |
35,875,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6031:Vps13b
|
UTSW |
15 |
35,471,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6031:Vps13b
|
UTSW |
15 |
35,471,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6045:Vps13b
|
UTSW |
15 |
35,671,316 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6143:Vps13b
|
UTSW |
15 |
35,668,738 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6147:Vps13b
|
UTSW |
15 |
35,930,031 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6218:Vps13b
|
UTSW |
15 |
35,770,464 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6447:Vps13b
|
UTSW |
15 |
35,572,126 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6555:Vps13b
|
UTSW |
15 |
35,846,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6578:Vps13b
|
UTSW |
15 |
35,446,101 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6640:Vps13b
|
UTSW |
15 |
35,617,696 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6645:Vps13b
|
UTSW |
15 |
35,910,305 (GRCm38) |
missense |
probably benign |
0.25 |
|
R6711:Vps13b
|
UTSW |
15 |
35,887,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6727:Vps13b
|
UTSW |
15 |
35,770,683 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6737:Vps13b
|
UTSW |
15 |
35,910,611 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6844:Vps13b
|
UTSW |
15 |
35,877,590 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6849:Vps13b
|
UTSW |
15 |
35,905,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6861:Vps13b
|
UTSW |
15 |
35,576,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6938:Vps13b
|
UTSW |
15 |
35,423,198 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6943:Vps13b
|
UTSW |
15 |
35,448,689 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6989:Vps13b
|
UTSW |
15 |
35,448,581 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7092:Vps13b
|
UTSW |
15 |
35,640,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7232:Vps13b
|
UTSW |
15 |
35,877,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7307:Vps13b
|
UTSW |
15 |
35,841,545 (GRCm38) |
missense |
probably benign |
|
|
R7400:Vps13b
|
UTSW |
15 |
35,378,900 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7414:Vps13b
|
UTSW |
15 |
35,910,827 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7497:Vps13b
|
UTSW |
15 |
35,876,697 (GRCm38) |
missense |
probably benign |
0.38 |
|
R7500:Vps13b
|
UTSW |
15 |
35,910,524 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R7603:Vps13b
|
UTSW |
15 |
35,576,439 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7605:Vps13b
|
UTSW |
15 |
35,770,646 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7849:Vps13b
|
UTSW |
15 |
35,423,232 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7984:Vps13b
|
UTSW |
15 |
35,879,913 (GRCm38) |
missense |
probably benign |
|
|
R8094:Vps13b
|
UTSW |
15 |
35,668,906 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8097:Vps13b
|
UTSW |
15 |
35,709,346 (GRCm38) |
missense |
probably benign |
0.38 |
|
R8131:Vps13b
|
UTSW |
15 |
35,372,109 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8139:Vps13b
|
UTSW |
15 |
35,607,272 (GRCm38) |
nonsense |
probably null |
|
|
R8174:Vps13b
|
UTSW |
15 |
35,709,310 (GRCm38) |
nonsense |
probably null |
|
|
R8225:Vps13b
|
UTSW |
15 |
35,794,382 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8239:Vps13b
|
UTSW |
15 |
35,597,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8244:Vps13b
|
UTSW |
15 |
35,917,203 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8303:Vps13b
|
UTSW |
15 |
35,639,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8311:Vps13b
|
UTSW |
15 |
35,886,954 (GRCm38) |
missense |
probably benign |
0.37 |
|
R8443:Vps13b
|
UTSW |
15 |
35,455,100 (GRCm38) |
missense |
probably benign |
|
|
R8494:Vps13b
|
UTSW |
15 |
35,422,448 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8499:Vps13b
|
UTSW |
15 |
35,841,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8506:Vps13b
|
UTSW |
15 |
35,446,745 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8559:Vps13b
|
UTSW |
15 |
35,876,642 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8686:Vps13b
|
UTSW |
15 |
35,925,389 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8782:Vps13b
|
UTSW |
15 |
35,422,337 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8806:Vps13b
|
UTSW |
15 |
35,472,066 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R8824:Vps13b
|
UTSW |
15 |
35,533,299 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9024:Vps13b
|
UTSW |
15 |
35,923,324 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9038:Vps13b
|
UTSW |
15 |
35,875,785 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R9054:Vps13b
|
UTSW |
15 |
35,422,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9091:Vps13b
|
UTSW |
15 |
35,770,773 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9129:Vps13b
|
UTSW |
15 |
35,448,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9214:Vps13b
|
UTSW |
15 |
35,623,746 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9237:Vps13b
|
UTSW |
15 |
35,841,333 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9256:Vps13b
|
UTSW |
15 |
35,623,779 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9270:Vps13b
|
UTSW |
15 |
35,770,773 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9279:Vps13b
|
UTSW |
15 |
35,572,144 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9291:Vps13b
|
UTSW |
15 |
35,846,913 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9342:Vps13b
|
UTSW |
15 |
35,455,054 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9404:Vps13b
|
UTSW |
15 |
35,876,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9488:Vps13b
|
UTSW |
15 |
35,447,734 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9509:Vps13b
|
UTSW |
15 |
35,841,311 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R9610:Vps13b
|
UTSW |
15 |
35,642,409 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9611:Vps13b
|
UTSW |
15 |
35,642,409 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9658:Vps13b
|
UTSW |
15 |
35,623,628 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9674:Vps13b
|
UTSW |
15 |
35,607,234 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9696:Vps13b
|
UTSW |
15 |
35,674,887 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R9767:Vps13b
|
UTSW |
15 |
35,910,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9797:Vps13b
|
UTSW |
15 |
35,674,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF020:Vps13b
|
UTSW |
15 |
35,925,406 (GRCm38) |
missense |
probably null |
1.00 |
|
X0026:Vps13b
|
UTSW |
15 |
35,910,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0028:Vps13b
|
UTSW |
15 |
35,709,431 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Vps13b
|
UTSW |
15 |
35,668,885 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAGCTAATGACAGCAGATGC -3'
(R):5'- TCCTGGGTCTCCATCAGATG -3'
Sequencing Primer
(F):5'- TGTGTGTTAAAACAATGGCCACTGG -3'
(R):5'- GGGTCTCCATCAGATGCCACTAC -3'
|
| Posted On |
2018-04-05 |
Incidental Mutation