Incidental Mutation 'FR4548:Mast4'
ID |
512104 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast4
|
Ensembl Gene |
ENSMUSG00000034751 |
Gene Name |
microtubule associated serine/threonine kinase family member 4 |
Synonyms |
4930420O11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.241)
|
Stock # |
FR4548 ()
|
Quality Score |
214.544 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
102732486-103334497 bp(-) (GRCm38) |
Type of Mutation |
small insertion (2 aa in frame mutation) |
DNA Base Change (assembly) |
CA to CAGTGGGA
at 102736318 bp (GRCm38)
|
Zygosity |
Homozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099202]
[ENSMUST00000166726]
[ENSMUST00000167058]
[ENSMUST00000170878]
[ENSMUST00000171791]
[ENSMUST00000172138]
|
AlphaFold |
Q811L6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099202
|
SMART Domains |
Protein: ENSMUSP00000096808 Gene: ENSMUSG00000034751
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
38 |
N/A |
INTRINSIC |
Pfam:DUF1908
|
76 |
353 |
2.2e-146 |
PFAM |
S_TKc
|
391 |
664 |
4.13e-98 |
SMART |
S_TK_X
|
665 |
729 |
3.79e-2 |
SMART |
low complexity region
|
745 |
758 |
N/A |
INTRINSIC |
low complexity region
|
818 |
831 |
N/A |
INTRINSIC |
low complexity region
|
840 |
857 |
N/A |
INTRINSIC |
low complexity region
|
925 |
960 |
N/A |
INTRINSIC |
PDZ
|
970 |
1050 |
2.34e-15 |
SMART |
low complexity region
|
1070 |
1087 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1122 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1139 |
N/A |
INTRINSIC |
low complexity region
|
1142 |
1164 |
N/A |
INTRINSIC |
low complexity region
|
1202 |
1219 |
N/A |
INTRINSIC |
low complexity region
|
1290 |
1306 |
N/A |
INTRINSIC |
low complexity region
|
1345 |
1361 |
N/A |
INTRINSIC |
low complexity region
|
1937 |
1953 |
N/A |
INTRINSIC |
low complexity region
|
1996 |
2010 |
N/A |
INTRINSIC |
low complexity region
|
2150 |
2161 |
N/A |
INTRINSIC |
low complexity region
|
2296 |
2307 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166726
|
SMART Domains |
Protein: ENSMUSP00000132263 Gene: ENSMUSG00000034751
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
51 |
N/A |
INTRINSIC |
Pfam:DUF1908
|
256 |
530 |
4.2e-145 |
PFAM |
S_TKc
|
568 |
841 |
4.13e-98 |
SMART |
S_TK_X
|
842 |
906 |
3.79e-2 |
SMART |
low complexity region
|
922 |
935 |
N/A |
INTRINSIC |
low complexity region
|
995 |
1008 |
N/A |
INTRINSIC |
low complexity region
|
1035 |
1070 |
N/A |
INTRINSIC |
PDZ
|
1080 |
1160 |
2.34e-15 |
SMART |
low complexity region
|
1180 |
1201 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167058
|
SMART Domains |
Protein: ENSMUSP00000128464 Gene: ENSMUSG00000034751
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
51 |
N/A |
INTRINSIC |
Pfam:DUF1908
|
256 |
529 |
5.1e-134 |
PFAM |
S_TKc
|
568 |
841 |
4.13e-98 |
SMART |
S_TK_X
|
842 |
906 |
3.79e-2 |
SMART |
low complexity region
|
922 |
935 |
N/A |
INTRINSIC |
low complexity region
|
995 |
1008 |
N/A |
INTRINSIC |
low complexity region
|
1017 |
1034 |
N/A |
INTRINSIC |
low complexity region
|
1102 |
1137 |
N/A |
INTRINSIC |
PDZ
|
1147 |
1227 |
2.34e-15 |
SMART |
low complexity region
|
1247 |
1264 |
N/A |
INTRINSIC |
low complexity region
|
1288 |
1299 |
N/A |
INTRINSIC |
low complexity region
|
1304 |
1316 |
N/A |
INTRINSIC |
low complexity region
|
1319 |
1341 |
N/A |
INTRINSIC |
low complexity region
|
1379 |
1396 |
N/A |
INTRINSIC |
low complexity region
|
1467 |
1483 |
N/A |
INTRINSIC |
low complexity region
|
1522 |
1538 |
N/A |
INTRINSIC |
low complexity region
|
2114 |
2130 |
N/A |
INTRINSIC |
low complexity region
|
2173 |
2187 |
N/A |
INTRINSIC |
low complexity region
|
2327 |
2338 |
N/A |
INTRINSIC |
low complexity region
|
2473 |
2484 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170878
|
SMART Domains |
Protein: ENSMUSP00000127880 Gene: ENSMUSG00000021624
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
PDB:3T6Q|B
|
21 |
86 |
3e-38 |
PDB |
SCOP:d1m0za_
|
35 |
84 |
4e-4 |
SMART |
Blast:LRR
|
51 |
75 |
1e-5 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171791
|
SMART Domains |
Protein: ENSMUSP00000131651 Gene: ENSMUSG00000034751
Domain | Start | End | E-Value | Type |
Pfam:DUF1908
|
64 |
338 |
1.2e-144 |
PFAM |
S_TKc
|
376 |
649 |
4.13e-98 |
SMART |
S_TK_X
|
650 |
714 |
3.79e-2 |
SMART |
low complexity region
|
730 |
743 |
N/A |
INTRINSIC |
low complexity region
|
803 |
816 |
N/A |
INTRINSIC |
low complexity region
|
825 |
842 |
N/A |
INTRINSIC |
low complexity region
|
910 |
945 |
N/A |
INTRINSIC |
PDZ
|
955 |
1035 |
2.34e-15 |
SMART |
low complexity region
|
1055 |
1072 |
N/A |
INTRINSIC |
low complexity region
|
1096 |
1107 |
N/A |
INTRINSIC |
low complexity region
|
1112 |
1124 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1149 |
N/A |
INTRINSIC |
low complexity region
|
1187 |
1204 |
N/A |
INTRINSIC |
low complexity region
|
1275 |
1291 |
N/A |
INTRINSIC |
low complexity region
|
1330 |
1346 |
N/A |
INTRINSIC |
low complexity region
|
1922 |
1938 |
N/A |
INTRINSIC |
low complexity region
|
1981 |
1995 |
N/A |
INTRINSIC |
low complexity region
|
2135 |
2146 |
N/A |
INTRINSIC |
low complexity region
|
2281 |
2292 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172138
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194446
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.3%
- 20x: 94.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the microtubule-associated serine/threonine protein kinases. The proteins in this family contain a domain that gives the kinase the ability to determine its own scaffold to control the effects of their kinase activities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit malocclusion. [provided by MGI curators]
|
Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
Other mutations in this stock |
Total: 147 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
CTT |
CTTTTT |
12: 110,668,449 (GRCm38) |
|
probably benign |
Het |
1700001K19Rik |
CTT |
CTTTTT |
12: 110,668,452 (GRCm38) |
|
probably benign |
Het |
2010300C02Rik |
T |
A |
1: 37,625,035 (GRCm38) |
E594V |
probably benign |
Homo |
2010300C02Rik |
C |
A |
1: 37,625,036 (GRCm38) |
E594* |
probably null |
Homo |
2010300C02Rik |
A |
G |
1: 37,625,102 (GRCm38) |
S47P |
probably damaging |
Homo |
4930433I11Rik |
ACCTC |
AC |
7: 40,993,056 (GRCm38) |
|
probably benign |
Het |
4932415D10Rik |
G |
GTCATTA |
10: 82,290,996 (GRCm38) |
|
probably benign |
Homo |
Abt1 |
TTCTTGCT |
TT |
13: 23,423,711 (GRCm38) |
|
probably benign |
Het |
Ahdc1 |
TCC |
TCCCCC |
4: 133,062,757 (GRCm38) |
|
probably benign |
Homo |
Ahdc1 |
T |
TCCC |
4: 133,062,760 (GRCm38) |
|
probably benign |
Homo |
AI837181 |
CG |
CGGGG |
19: 5,425,237 (GRCm38) |
|
probably benign |
Het |
AI837181 |
CGG |
CGGGGG |
19: 5,425,231 (GRCm38) |
|
probably benign |
Het |
Anxa2 |
CCC |
CCCTCC |
9: 69,480,203 (GRCm38) |
|
probably benign |
Het |
Anxa7 |
C |
T |
14: 20,469,411 (GRCm38) |
G113E |
probably damaging |
Homo |
Apc |
CCAATAAAG |
CCAATAAAGACAATAAAG |
18: 34,281,998 (GRCm38) |
|
probably benign |
Het |
Apol6 |
T |
TGTTA |
15: 77,051,445 (GRCm38) |
|
probably null |
Homo |
BC051142 |
GCA |
GCATCA |
17: 34,460,065 (GRCm38) |
|
probably benign |
Het |
Blm |
CTAC |
CTACTTAC |
7: 80,463,769 (GRCm38) |
|
probably null |
Homo |
Brd2 |
CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
CAAAAAAAAAAAAAAA |
17: 34,116,336 (GRCm38) |
|
probably benign |
Het |
Bud31 |
C |
T |
5: 145,146,535 (GRCm38) |
R63C |
probably benign |
Het |
C4b |
C |
T |
17: 34,740,997 (GRCm38) |
R335H |
probably benign |
Het |
Cacna1a |
ACC |
ACCCCC |
8: 84,638,717 (GRCm38) |
|
probably benign |
Het |
Cacna1f |
AGG |
AGGGGG |
X: 7,620,058 (GRCm38) |
|
probably benign |
Het |
Ccdc170 |
ACC |
ACCCCC |
10: 4,561,026 (GRCm38) |
|
probably benign |
Het |
Cckbr |
GGGC |
G |
7: 105,434,681 (GRCm38) |
|
probably benign |
Homo |
Cd3eap |
GGATG |
GG |
7: 19,357,244 (GRCm38) |
|
probably benign |
Homo |
Cd80 |
GAAA |
GAAAAAA |
16: 38,486,319 (GRCm38) |
|
probably benign |
Homo |
Ces1b |
T |
C |
8: 93,068,092 (GRCm38) |
N293S |
probably null |
Homo |
Cgnl1 |
CGC |
CGCGGC |
9: 71,724,717 (GRCm38) |
|
probably benign |
Het |
Cntnap1 |
CCCAGC |
CCCAGCGCCAGC |
11: 101,189,572 (GRCm38) |
|
probably benign |
Het |
Cntnap1 |
CCAGCC |
CCAGCCTCAGCC |
11: 101,189,579 (GRCm38) |
|
probably benign |
Het |
Cntnap1 |
AGCC |
AGCCCCCGCC |
11: 101,189,593 (GRCm38) |
|
probably benign |
Het |
Cntnap1 |
GCC |
GCCCCAACC |
11: 101,189,594 (GRCm38) |
|
probably benign |
Het |
Ctsm |
GTGA |
GTGAATGA |
13: 61,537,837 (GRCm38) |
|
probably null |
Homo |
Cttnbp2 |
TGCTGC |
TGCTGCCGCTGC |
6: 18,367,463 (GRCm38) |
|
probably benign |
Het |
Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,583,673 (GRCm38) |
|
probably null |
Het |
Dusp10 |
G |
T |
1: 184,037,056 (GRCm38) |
C73F |
probably damaging |
Homo |
Efna4 |
ATGTGAT |
A |
3: 89,334,422 (GRCm38) |
|
probably benign |
Homo |
Eif3a |
A |
ATTTTT |
19: 60,775,291 (GRCm38) |
|
probably benign |
Homo |
Ermn |
TC |
TCTCC |
2: 58,048,088 (GRCm38) |
|
probably benign |
Het |
Ermn |
TTC |
TTCATC |
2: 58,048,075 (GRCm38) |
|
probably benign |
Het |
Fbxo43 |
GTGCCT |
GTGCCTATGCCT |
15: 36,152,098 (GRCm38) |
|
probably null |
Het |
Fscb |
T |
A |
12: 64,472,565 (GRCm38) |
Q709L |
unknown |
Het |
Fscb |
A |
G |
12: 64,472,563 (GRCm38) |
S710P |
unknown |
Het |
Glod4 |
A |
C |
11: 76,243,310 (GRCm38) |
|
probably benign |
Homo |
Gm14401 |
A |
G |
2: 177,086,868 (GRCm38) |
D249G |
probably benign |
Het |
Gm4340 |
AGC |
AGCGGC |
10: 104,196,073 (GRCm38) |
|
probably benign |
Het |
Gm4340 |
AGC |
AGCCGC |
10: 104,196,070 (GRCm38) |
|
probably benign |
Het |
Gm8104 |
C |
T |
14: 43,110,009 (GRCm38) |
T178I |
probably benign |
Het |
Gm8104 |
T |
C |
14: 43,110,011 (GRCm38) |
S179P |
probably damaging |
Het |
Gpatch11 |
GGAAGA |
GGAAGACGAAGA |
17: 78,842,175 (GRCm38) |
|
probably benign |
Het |
H2-K1 |
GTTT |
G |
17: 33,997,042 (GRCm38) |
|
probably benign |
Homo |
Hist1h1t |
GAGAA |
GA |
13: 23,695,920 (GRCm38) |
|
probably benign |
Homo |
Hspa1b |
GCGCC |
GC |
17: 34,957,129 (GRCm38) |
|
probably benign |
Homo |
Ifi211 |
G |
A |
1: 173,906,193 (GRCm38) |
A134V |
possibly damaging |
Het |
Igf1r |
C |
CTGGAGATGGAGG |
7: 68,226,186 (GRCm38) |
|
probably benign |
Het |
Igkv9-129 |
G |
A |
6: 67,840,034 (GRCm38) |
V41I |
probably damaging |
Het |
Ipo9 |
TCC |
TCCCCC |
1: 135,386,275 (GRCm38) |
|
probably benign |
Het |
Kcng4 |
G |
T |
8: 119,633,519 (GRCm38) |
Y39* |
probably null |
Homo |
Klra2 |
AG |
AGAAATCCACGG |
6: 131,221,851 (GRCm38) |
|
probably null |
Het |
Kmt2b |
CTCC |
CTCCTCGTCC |
7: 30,586,380 (GRCm38) |
|
probably benign |
Het |
Kng2 |
G |
A |
16: 23,000,552 (GRCm38) |
Q245* |
probably null |
Het |
Kri1 |
CTCCTCTTCCTC |
CTCCTC |
9: 21,281,050 (GRCm38) |
|
probably benign |
Het |
Krt10 |
TCCTCCAC |
TCCTCCACCTCCAC |
11: 99,389,276 (GRCm38) |
|
probably benign |
Homo |
Krt10 |
TCCTCC |
TCCTCCCCCTCC |
11: 99,389,273 (GRCm38) |
|
probably benign |
Het |
Las1l |
TC |
TCTTCCGC |
X: 95,940,625 (GRCm38) |
|
probably benign |
Het |
Las1l |
GAG |
GAGAAG |
X: 95,940,823 (GRCm38) |
|
probably benign |
Het |
Lrit3 |
GCT |
GCTACT |
3: 129,788,816 (GRCm38) |
|
probably benign |
Het |
Lrit3 |
GCT |
GCTACT |
3: 129,788,813 (GRCm38) |
|
probably benign |
Het |
Lrrc63 |
CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
14: 75,125,182 (GRCm38) |
|
probably benign |
Homo |
Luzp1 |
CTCTTCAGA |
CTCTTCAGAGGTGGCATCTTCAGA |
4: 136,543,188 (GRCm38) |
|
probably benign |
Homo |
Med12l |
AGC |
AGCGGC |
3: 59,275,982 (GRCm38) |
|
probably benign |
Het |
Mn1 |
GCA |
GCACCA |
5: 111,419,698 (GRCm38) |
|
probably benign |
Het |
Morn4 |
AGGCAGTGAG |
AGGCAGTGAGTCCGGCAGTGAG |
19: 42,076,109 (GRCm38) |
|
probably benign |
Het |
Msantd4 |
A |
T |
9: 4,384,937 (GRCm38) |
I221F |
possibly damaging |
Homo |
Mup21 |
ATACTT |
ATACTTTTTATCTACTT |
4: 62,149,346 (GRCm38) |
|
probably benign |
Het |
Mup21 |
TATACTT |
TATACTTTTTAAATACTT |
4: 62,149,345 (GRCm38) |
|
probably benign |
Het |
Nacad |
AGGGTC |
AGGGTCGGGGTC |
11: 6,599,752 (GRCm38) |
|
probably benign |
Het |
Nacad |
GG |
GGCCAGTG |
11: 6,599,760 (GRCm38) |
|
probably benign |
Het |
Ncapd2 |
CTT |
CTTGGTT |
6: 125,173,596 (GRCm38) |
|
probably benign |
Homo |
Nelfe |
GACCGGGATCGAGACAGAGAC |
GACCGGGATCGAGACAGAGACAAAGACCGGGATCGAGACAGAGAC |
17: 34,854,070 (GRCm38) |
|
probably benign |
Homo |
Nfxl1 |
CCGGGG |
CCGGGGTCGGGG |
5: 72,559,115 (GRCm38) |
|
probably benign |
Het |
Nkx2-6 |
C |
T |
14: 69,175,229 (GRCm38) |
T282M |
probably damaging |
Homo |
Noc2l |
AGGC |
AGGCGGC |
4: 156,240,092 (GRCm38) |
|
probably benign |
Homo |
Noc2l |
GC |
GCTTC |
4: 156,240,100 (GRCm38) |
|
probably benign |
Het |
Nphp3 |
CACG |
C |
9: 104,025,939 (GRCm38) |
|
probably benign |
Het |
Nrg3 |
TTG |
TTGACACTG |
14: 38,397,271 (GRCm38) |
|
probably benign |
Homo |
Olfr313 |
T |
A |
11: 58,817,440 (GRCm38) |
V144D |
possibly damaging |
Homo |
Olfr318 |
T |
G |
11: 58,720,371 (GRCm38) |
I226L |
probably benign |
Het |
Olfr585 |
T |
TTAG |
7: 103,098,309 (GRCm38) |
|
probably null |
Homo |
Olfr624 |
G |
GAAC |
7: 103,670,967 (GRCm38) |
|
probably null |
Homo |
Olfr624 |
CAAA |
CAAAAAA |
7: 103,670,960 (GRCm38) |
|
probably benign |
Homo |
Osmr |
CTC |
CTCTTC |
15: 6,837,703 (GRCm38) |
|
probably benign |
Homo |
Patl2 |
GCT |
GCTCCT |
2: 122,126,135 (GRCm38) |
|
probably benign |
Het |
Pdik1l |
ACCAC |
ACCACCGCCAC |
4: 134,279,512 (GRCm38) |
|
probably benign |
Homo |
Phldb3 |
GACCC |
G |
7: 24,628,978 (GRCm38) |
|
probably null |
Het |
Piezo1 |
G |
A |
8: 122,495,569 (GRCm38) |
R503W |
probably damaging |
Homo |
Pik3ap1 |
AG |
AGGGG |
19: 41,281,945 (GRCm38) |
|
probably benign |
Homo |
Pkdrej |
TG |
TGGGAGCG |
15: 85,819,680 (GRCm38) |
|
probably benign |
Homo |
Ppp1r3f |
C |
A |
X: 7,560,336 (GRCm38) |
G562V |
probably damaging |
Homo |
Prag1 |
GC |
GCAAC |
8: 36,103,885 (GRCm38) |
|
probably benign |
Homo |
Prr13 |
TCC |
TCCGCC |
15: 102,462,174 (GRCm38) |
|
probably benign |
Het |
Prtg |
GTAAC |
G |
9: 72,857,081 (GRCm38) |
|
probably benign |
Homo |
Ptk2b |
C |
T |
14: 66,173,849 (GRCm38) |
R411Q |
possibly damaging |
Het |
Ptms |
TTC |
TTCGTC |
6: 124,914,456 (GRCm38) |
|
probably benign |
Het |
Ptpn23 |
G |
T |
9: 110,387,633 (GRCm38) |
P1052T |
probably benign |
Homo |
Rbm33 |
AGCAGCCGCAGC |
AGCAGC |
5: 28,394,201 (GRCm38) |
|
probably benign |
Het |
Setd1a |
TGGTGGTGGT |
TGGTGGTGGTGGTGGTGGT |
7: 127,785,307 (GRCm38) |
|
probably benign |
Homo |
Setd1a |
TGGTAGTGG |
TGGTAGTGGCGGTAGTGG |
7: 127,785,313 (GRCm38) |
|
probably benign |
Homo |
Sfswap |
CCACTCAGC |
CCACTCAGCGCACTCAGC |
5: 129,569,749 (GRCm38) |
|
probably benign |
Het |
Sfswap |
AGCCCACTCGGCC |
AGCCCACTCGGCCCACTCGGCC |
5: 129,569,755 (GRCm38) |
|
probably benign |
Homo |
Sh3pxd2b |
T |
TGTCTTG |
11: 32,423,065 (GRCm38) |
|
probably benign |
Het |
Sh3pxd2b |
GT |
GTGTCTCT |
11: 32,423,064 (GRCm38) |
|
probably benign |
Homo |
Shroom4 |
GCAGCAACA |
GCA |
X: 6,624,074 (GRCm38) |
|
probably benign |
Het |
Six3 |
GGC |
GGCCGC |
17: 85,621,363 (GRCm38) |
|
probably benign |
Het |
Slc12a1 |
ACC |
ACCTTTGGCCACAACCCC |
2: 125,154,214 (GRCm38) |
|
probably benign |
Homo |
Spaca1 |
GC |
GCTCTCTC |
4: 34,049,856 (GRCm38) |
|
probably benign |
Het |
Spag17 |
AGG |
AGGCGG |
3: 100,056,254 (GRCm38) |
|
probably benign |
Het |
Srebf2 |
G |
T |
15: 82,185,335 (GRCm38) |
A693S |
probably damaging |
Homo |
Supt20 |
CA |
CAGCAGAA |
3: 54,727,673 (GRCm38) |
|
probably benign |
Het |
Supt20 |
CAGCAG |
CAGCAGGAGCAG |
3: 54,727,664 (GRCm38) |
|
probably benign |
Het |
Supt20 |
GCAGCA |
GCAGCACCAGCA |
3: 54,727,657 (GRCm38) |
|
probably benign |
Het |
Syne1 |
C |
A |
10: 5,032,969 (GRCm38) |
S8652I |
probably benign |
Homo |
Tob1 |
AGC |
AGCCGC |
11: 94,214,469 (GRCm38) |
|
probably benign |
Het |
Tob1 |
GCA |
GCAACA |
11: 94,214,455 (GRCm38) |
|
probably benign |
Het |
Tomm5 |
CTTCCGC |
CTTCCGCATTTTCCGC |
4: 45,107,977 (GRCm38) |
|
probably benign |
Het |
Trav15-2-dv6-2 |
G |
GAAA |
14: 53,649,757 (GRCm38) |
|
probably benign |
Het |
Triobp |
TCG |
TCGCCG |
15: 78,993,390 (GRCm38) |
|
probably benign |
Homo |
Triobp |
TCG |
TCGGCG |
15: 78,993,387 (GRCm38) |
|
probably benign |
Het |
Tsen2 |
GAG |
GAGAAG |
6: 115,560,068 (GRCm38) |
|
probably benign |
Het |
Ttf2 |
TC |
TCCGC |
3: 100,963,160 (GRCm38) |
|
probably benign |
Homo |
Tusc1 |
CGCCAC |
CGCCACTGCCAC |
4: 93,335,303 (GRCm38) |
|
probably benign |
Het |
Ubtf |
CTC |
CTCATC |
11: 102,306,958 (GRCm38) |
|
probably benign |
Het |
Utrn |
T |
TTCCTGTC |
10: 12,633,941 (GRCm38) |
|
probably benign |
Homo |
Vars |
TGG |
TGGAGTCCTGGGGGG |
17: 35,015,989 (GRCm38) |
|
probably benign |
Homo |
Vars |
G |
GAGTCCTGGGTGC |
17: 35,015,991 (GRCm38) |
|
probably benign |
Het |
Vmn2r99 |
G |
A |
17: 19,394,285 (GRCm38) |
G756R |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,846,957 (GRCm38) |
A2629S |
probably damaging |
Homo |
Zc3h13 |
TGCG |
TGCGTGATGAGCG |
14: 75,323,599 (GRCm38) |
|
probably benign |
Het |
Zdhhc16 |
CACA |
CACAACAGGGAAAGCAGTCTGTCAACA |
19: 41,942,168 (GRCm38) |
|
probably null |
Het |
Zfp26 |
C |
A |
9: 20,438,546 (GRCm38) |
A241S |
probably benign |
Homo |
Zfp335 |
TCC |
TCCCCC |
2: 164,907,472 (GRCm38) |
|
probably benign |
Het |
Zfp598 |
CACCAC |
CACCACAACCAC |
17: 24,680,775 (GRCm38) |
|
probably benign |
Het |
Zfp598 |
ACCACC |
ACCACCCCCACC |
17: 24,680,776 (GRCm38) |
|
probably benign |
Het |
Zfp933 |
TT |
TTTGCCT |
4: 147,825,731 (GRCm38) |
|
probably null |
Het |
Zfp986 |
G |
T |
4: 145,899,358 (GRCm38) |
R196I |
probably benign |
Het |
Zfp992 |
G |
T |
4: 146,466,007 (GRCm38) |
E62* |
probably null |
Het |
|
Other mutations in Mast4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00703:Mast4
|
APN |
13 |
102,770,767 (GRCm38) |
nonsense |
probably null |
|
IGL00933:Mast4
|
APN |
13 |
102,735,366 (GRCm38) |
missense |
probably damaging |
0.97 |
IGL01113:Mast4
|
APN |
13 |
102,774,236 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01461:Mast4
|
APN |
13 |
102,754,068 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01569:Mast4
|
APN |
13 |
102,761,015 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01697:Mast4
|
APN |
13 |
102,767,893 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01725:Mast4
|
APN |
13 |
102,750,512 (GRCm38) |
critical splice donor site |
probably null |
|
IGL01734:Mast4
|
APN |
13 |
102,737,615 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL01738:Mast4
|
APN |
13 |
102,737,241 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01739:Mast4
|
APN |
13 |
102,774,273 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02299:Mast4
|
APN |
13 |
102,737,974 (GRCm38) |
missense |
probably benign |
0.44 |
IGL02479:Mast4
|
APN |
13 |
102,742,037 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02485:Mast4
|
APN |
13 |
102,735,496 (GRCm38) |
missense |
probably benign |
0.02 |
IGL02528:Mast4
|
APN |
13 |
102,853,823 (GRCm38) |
makesense |
probably null |
|
IGL02850:Mast4
|
APN |
13 |
102,754,232 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02900:Mast4
|
APN |
13 |
102,735,676 (GRCm38) |
missense |
probably benign |
|
IGL03064:Mast4
|
APN |
13 |
102,760,964 (GRCm38) |
nonsense |
probably null |
|
IGL03124:Mast4
|
APN |
13 |
102,738,245 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03146:Mast4
|
APN |
13 |
102,737,655 (GRCm38) |
missense |
probably benign |
0.00 |
IGL03221:Mast4
|
APN |
13 |
102,754,256 (GRCm38) |
missense |
possibly damaging |
0.95 |
IGL03284:Mast4
|
APN |
13 |
102,751,397 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03406:Mast4
|
APN |
13 |
102,737,107 (GRCm38) |
missense |
possibly damaging |
0.46 |
buck
|
UTSW |
13 |
102,761,293 (GRCm38) |
critical splice donor site |
probably null |
|
doe
|
UTSW |
13 |
102,905,677 (GRCm38) |
missense |
possibly damaging |
0.85 |
skinnybones
|
UTSW |
13 |
102,804,641 (GRCm38) |
critical splice donor site |
probably null |
|
BB010:Mast4
|
UTSW |
13 |
102,772,563 (GRCm38) |
missense |
probably damaging |
0.99 |
BB020:Mast4
|
UTSW |
13 |
102,772,563 (GRCm38) |
missense |
probably damaging |
0.99 |
FR4304:Mast4
|
UTSW |
13 |
102,734,862 (GRCm38) |
utr 3 prime |
probably benign |
|
FR4340:Mast4
|
UTSW |
13 |
102,736,317 (GRCm38) |
small insertion |
probably benign |
|
FR4340:Mast4
|
UTSW |
13 |
102,734,857 (GRCm38) |
frame shift |
probably null |
|
FR4976:Mast4
|
UTSW |
13 |
102,739,247 (GRCm38) |
frame shift |
probably null |
|
FR4976:Mast4
|
UTSW |
13 |
102,736,312 (GRCm38) |
small insertion |
probably benign |
|
NA:Mast4
|
UTSW |
13 |
102,742,057 (GRCm38) |
missense |
probably damaging |
1.00 |
PIT4466001:Mast4
|
UTSW |
13 |
102,804,718 (GRCm38) |
missense |
probably damaging |
1.00 |
PIT4469001:Mast4
|
UTSW |
13 |
102,804,718 (GRCm38) |
missense |
probably damaging |
1.00 |
PIT4472001:Mast4
|
UTSW |
13 |
102,804,718 (GRCm38) |
missense |
probably damaging |
1.00 |
R0009:Mast4
|
UTSW |
13 |
102,742,058 (GRCm38) |
missense |
probably damaging |
1.00 |
R0063:Mast4
|
UTSW |
13 |
103,334,215 (GRCm38) |
start gained |
probably benign |
|
R0242:Mast4
|
UTSW |
13 |
102,853,842 (GRCm38) |
missense |
probably damaging |
1.00 |
R0310:Mast4
|
UTSW |
13 |
102,754,161 (GRCm38) |
missense |
possibly damaging |
0.94 |
R0395:Mast4
|
UTSW |
13 |
102,735,273 (GRCm38) |
missense |
probably damaging |
1.00 |
R0454:Mast4
|
UTSW |
13 |
102,751,560 (GRCm38) |
missense |
probably damaging |
1.00 |
R0646:Mast4
|
UTSW |
13 |
102,758,744 (GRCm38) |
splice site |
probably benign |
|
R0744:Mast4
|
UTSW |
13 |
102,737,387 (GRCm38) |
missense |
probably damaging |
0.98 |
R0883:Mast4
|
UTSW |
13 |
102,853,900 (GRCm38) |
missense |
probably damaging |
1.00 |
R0905:Mast4
|
UTSW |
13 |
102,770,784 (GRCm38) |
missense |
probably damaging |
0.99 |
R1023:Mast4
|
UTSW |
13 |
102,735,496 (GRCm38) |
missense |
probably benign |
0.02 |
R1281:Mast4
|
UTSW |
13 |
102,750,578 (GRCm38) |
missense |
probably damaging |
1.00 |
R1376:Mast4
|
UTSW |
13 |
102,736,408 (GRCm38) |
missense |
possibly damaging |
0.46 |
R1376:Mast4
|
UTSW |
13 |
102,736,408 (GRCm38) |
missense |
possibly damaging |
0.46 |
R1473:Mast4
|
UTSW |
13 |
102,772,519 (GRCm38) |
missense |
probably damaging |
1.00 |
R1572:Mast4
|
UTSW |
13 |
102,736,923 (GRCm38) |
missense |
possibly damaging |
0.51 |
R1575:Mast4
|
UTSW |
13 |
102,739,263 (GRCm38) |
missense |
probably damaging |
1.00 |
R1865:Mast4
|
UTSW |
13 |
102,794,117 (GRCm38) |
missense |
probably damaging |
1.00 |
R2050:Mast4
|
UTSW |
13 |
102,751,409 (GRCm38) |
missense |
probably damaging |
1.00 |
R2060:Mast4
|
UTSW |
13 |
102,738,846 (GRCm38) |
missense |
probably damaging |
1.00 |
R2062:Mast4
|
UTSW |
13 |
102,759,093 (GRCm38) |
missense |
probably benign |
0.18 |
R2106:Mast4
|
UTSW |
13 |
102,750,546 (GRCm38) |
missense |
probably damaging |
1.00 |
R2118:Mast4
|
UTSW |
13 |
102,754,205 (GRCm38) |
missense |
probably damaging |
1.00 |
R2143:Mast4
|
UTSW |
13 |
102,735,475 (GRCm38) |
missense |
possibly damaging |
0.89 |
R2256:Mast4
|
UTSW |
13 |
102,735,751 (GRCm38) |
missense |
possibly damaging |
0.62 |
R2261:Mast4
|
UTSW |
13 |
102,798,207 (GRCm38) |
splice site |
probably benign |
|
R2370:Mast4
|
UTSW |
13 |
102,774,187 (GRCm38) |
missense |
probably damaging |
1.00 |
R2504:Mast4
|
UTSW |
13 |
102,738,639 (GRCm38) |
missense |
probably damaging |
0.96 |
R2509:Mast4
|
UTSW |
13 |
102,853,842 (GRCm38) |
missense |
probably damaging |
1.00 |
R2842:Mast4
|
UTSW |
13 |
102,736,431 (GRCm38) |
missense |
probably benign |
0.01 |
R3087:Mast4
|
UTSW |
13 |
102,853,926 (GRCm38) |
splice site |
probably benign |
|
R3434:Mast4
|
UTSW |
13 |
102,787,379 (GRCm38) |
missense |
probably damaging |
1.00 |
R3435:Mast4
|
UTSW |
13 |
102,787,379 (GRCm38) |
missense |
probably damaging |
1.00 |
R3763:Mast4
|
UTSW |
13 |
102,787,419 (GRCm38) |
missense |
probably damaging |
1.00 |
R3826:Mast4
|
UTSW |
13 |
102,738,811 (GRCm38) |
missense |
probably damaging |
1.00 |
R3829:Mast4
|
UTSW |
13 |
102,738,811 (GRCm38) |
missense |
probably damaging |
1.00 |
R3830:Mast4
|
UTSW |
13 |
102,738,811 (GRCm38) |
missense |
probably damaging |
1.00 |
R3913:Mast4
|
UTSW |
13 |
102,758,669 (GRCm38) |
missense |
probably damaging |
1.00 |
R3914:Mast4
|
UTSW |
13 |
102,739,321 (GRCm38) |
nonsense |
probably null |
|
R4021:Mast4
|
UTSW |
13 |
102,739,321 (GRCm38) |
nonsense |
probably null |
|
R4022:Mast4
|
UTSW |
13 |
102,853,869 (GRCm38) |
missense |
probably damaging |
1.00 |
R4022:Mast4
|
UTSW |
13 |
102,739,321 (GRCm38) |
nonsense |
probably null |
|
R4210:Mast4
|
UTSW |
13 |
102,739,205 (GRCm38) |
missense |
probably damaging |
1.00 |
R4342:Mast4
|
UTSW |
13 |
102,774,248 (GRCm38) |
missense |
probably damaging |
1.00 |
R4580:Mast4
|
UTSW |
13 |
102,737,258 (GRCm38) |
nonsense |
probably null |
|
R4627:Mast4
|
UTSW |
13 |
103,334,021 (GRCm38) |
missense |
possibly damaging |
0.92 |
R4711:Mast4
|
UTSW |
13 |
103,334,119 (GRCm38) |
missense |
probably benign |
0.01 |
R4732:Mast4
|
UTSW |
13 |
102,772,572 (GRCm38) |
missense |
probably damaging |
0.99 |
R4733:Mast4
|
UTSW |
13 |
102,772,572 (GRCm38) |
missense |
probably damaging |
0.99 |
R4833:Mast4
|
UTSW |
13 |
102,774,184 (GRCm38) |
critical splice donor site |
probably null |
|
R4995:Mast4
|
UTSW |
13 |
102,905,754 (GRCm38) |
intron |
probably benign |
|
R5059:Mast4
|
UTSW |
13 |
102,750,563 (GRCm38) |
missense |
probably damaging |
1.00 |
R5073:Mast4
|
UTSW |
13 |
102,738,883 (GRCm38) |
nonsense |
probably null |
|
R5101:Mast4
|
UTSW |
13 |
102,736,356 (GRCm38) |
missense |
probably benign |
0.01 |
R5526:Mast4
|
UTSW |
13 |
102,754,215 (GRCm38) |
missense |
possibly damaging |
0.48 |
R5599:Mast4
|
UTSW |
13 |
102,737,479 (GRCm38) |
missense |
probably damaging |
1.00 |
R5673:Mast4
|
UTSW |
13 |
102,794,072 (GRCm38) |
missense |
probably damaging |
1.00 |
R5694:Mast4
|
UTSW |
13 |
102,774,193 (GRCm38) |
nonsense |
probably null |
|
R5906:Mast4
|
UTSW |
13 |
102,735,744 (GRCm38) |
missense |
probably benign |
0.31 |
R5908:Mast4
|
UTSW |
13 |
102,738,256 (GRCm38) |
missense |
probably damaging |
1.00 |
R5947:Mast4
|
UTSW |
13 |
102,735,640 (GRCm38) |
missense |
probably benign |
|
R5987:Mast4
|
UTSW |
13 |
102,758,734 (GRCm38) |
missense |
probably damaging |
1.00 |
R6143:Mast4
|
UTSW |
13 |
102,853,883 (GRCm38) |
missense |
probably damaging |
1.00 |
R6154:Mast4
|
UTSW |
13 |
102,787,421 (GRCm38) |
missense |
probably damaging |
1.00 |
R6169:Mast4
|
UTSW |
13 |
102,787,421 (GRCm38) |
missense |
probably damaging |
1.00 |
R6239:Mast4
|
UTSW |
13 |
102,736,209 (GRCm38) |
missense |
probably benign |
0.01 |
R6327:Mast4
|
UTSW |
13 |
102,761,382 (GRCm38) |
missense |
probably damaging |
1.00 |
R6356:Mast4
|
UTSW |
13 |
102,735,985 (GRCm38) |
missense |
possibly damaging |
0.80 |
R6432:Mast4
|
UTSW |
13 |
102,905,677 (GRCm38) |
missense |
possibly damaging |
0.85 |
R6522:Mast4
|
UTSW |
13 |
102,761,293 (GRCm38) |
critical splice donor site |
probably null |
|
R6667:Mast4
|
UTSW |
13 |
102,737,496 (GRCm38) |
missense |
probably damaging |
1.00 |
R6941:Mast4
|
UTSW |
13 |
102,804,714 (GRCm38) |
missense |
probably damaging |
1.00 |
R6968:Mast4
|
UTSW |
13 |
102,804,647 (GRCm38) |
missense |
probably damaging |
1.00 |
R6968:Mast4
|
UTSW |
13 |
102,798,078 (GRCm38) |
missense |
probably damaging |
1.00 |
R6970:Mast4
|
UTSW |
13 |
102,804,647 (GRCm38) |
missense |
probably damaging |
1.00 |
R6980:Mast4
|
UTSW |
13 |
102,804,647 (GRCm38) |
missense |
probably damaging |
1.00 |
R6991:Mast4
|
UTSW |
13 |
102,804,647 (GRCm38) |
missense |
probably damaging |
1.00 |
R6992:Mast4
|
UTSW |
13 |
102,804,647 (GRCm38) |
missense |
probably damaging |
1.00 |
R6993:Mast4
|
UTSW |
13 |
102,735,974 (GRCm38) |
missense |
probably benign |
0.28 |
R6993:Mast4
|
UTSW |
13 |
102,804,647 (GRCm38) |
missense |
probably damaging |
1.00 |
R7083:Mast4
|
UTSW |
13 |
102,737,715 (GRCm38) |
missense |
probably damaging |
1.00 |
R7241:Mast4
|
UTSW |
13 |
103,334,000 (GRCm38) |
missense |
possibly damaging |
0.87 |
R7242:Mast4
|
UTSW |
13 |
102,738,478 (GRCm38) |
missense |
probably damaging |
1.00 |
R7246:Mast4
|
UTSW |
13 |
102,794,003 (GRCm38) |
missense |
probably damaging |
1.00 |
R7332:Mast4
|
UTSW |
13 |
102,751,424 (GRCm38) |
missense |
possibly damaging |
0.61 |
R7453:Mast4
|
UTSW |
13 |
102,804,641 (GRCm38) |
critical splice donor site |
probably null |
|
R7514:Mast4
|
UTSW |
13 |
102,787,426 (GRCm38) |
nonsense |
probably null |
|
R7697:Mast4
|
UTSW |
13 |
102,739,203 (GRCm38) |
missense |
probably damaging |
1.00 |
R7820:Mast4
|
UTSW |
13 |
102,754,088 (GRCm38) |
missense |
probably damaging |
1.00 |
R7874:Mast4
|
UTSW |
13 |
102,739,275 (GRCm38) |
missense |
probably damaging |
1.00 |
R7933:Mast4
|
UTSW |
13 |
102,772,563 (GRCm38) |
missense |
probably damaging |
0.99 |
R8042:Mast4
|
UTSW |
13 |
102,781,245 (GRCm38) |
missense |
probably damaging |
0.96 |
R8060:Mast4
|
UTSW |
13 |
102,737,676 (GRCm38) |
missense |
possibly damaging |
0.89 |
R8172:Mast4
|
UTSW |
13 |
102,953,125 (GRCm38) |
critical splice donor site |
probably null |
|
R8206:Mast4
|
UTSW |
13 |
102,735,739 (GRCm38) |
missense |
probably damaging |
1.00 |
R8248:Mast4
|
UTSW |
13 |
102,738,721 (GRCm38) |
missense |
probably damaging |
1.00 |
R8283:Mast4
|
UTSW |
13 |
102,758,669 (GRCm38) |
missense |
probably damaging |
1.00 |
R8346:Mast4
|
UTSW |
13 |
102,751,478 (GRCm38) |
missense |
probably damaging |
0.99 |
R8434:Mast4
|
UTSW |
13 |
102,761,392 (GRCm38) |
missense |
probably damaging |
1.00 |
R8796:Mast4
|
UTSW |
13 |
102,783,391 (GRCm38) |
missense |
probably benign |
0.07 |
R8850:Mast4
|
UTSW |
13 |
102,758,666 (GRCm38) |
missense |
probably damaging |
1.00 |
R9012:Mast4
|
UTSW |
13 |
102,798,098 (GRCm38) |
missense |
probably benign |
0.05 |
R9375:Mast4
|
UTSW |
13 |
102,781,245 (GRCm38) |
missense |
probably damaging |
0.99 |
R9389:Mast4
|
UTSW |
13 |
103,333,930 (GRCm38) |
missense |
probably benign |
0.00 |
R9404:Mast4
|
UTSW |
13 |
102,751,425 (GRCm38) |
missense |
probably damaging |
1.00 |
R9520:Mast4
|
UTSW |
13 |
102,789,024 (GRCm38) |
missense |
probably damaging |
1.00 |
R9525:Mast4
|
UTSW |
13 |
102,736,436 (GRCm38) |
missense |
probably benign |
0.00 |
R9526:Mast4
|
UTSW |
13 |
102,737,085 (GRCm38) |
missense |
probably benign |
0.00 |
R9709:Mast4
|
UTSW |
13 |
102,774,203 (GRCm38) |
missense |
probably damaging |
1.00 |
R9790:Mast4
|
UTSW |
13 |
102,754,197 (GRCm38) |
missense |
probably benign |
0.01 |
R9791:Mast4
|
UTSW |
13 |
102,754,197 (GRCm38) |
missense |
probably benign |
0.01 |
RF005:Mast4
|
UTSW |
13 |
102,736,307 (GRCm38) |
small insertion |
probably benign |
|
RF015:Mast4
|
UTSW |
13 |
102,739,247 (GRCm38) |
frame shift |
probably null |
|
RF019:Mast4
|
UTSW |
13 |
102,736,307 (GRCm38) |
small insertion |
probably benign |
|
RF037:Mast4
|
UTSW |
13 |
102,739,241 (GRCm38) |
small deletion |
probably benign |
|
RF039:Mast4
|
UTSW |
13 |
102,739,241 (GRCm38) |
small deletion |
probably benign |
|
RF040:Mast4
|
UTSW |
13 |
102,739,241 (GRCm38) |
small deletion |
probably benign |
|
Z1088:Mast4
|
UTSW |
13 |
102,738,519 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1176:Mast4
|
UTSW |
13 |
102,738,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTCTGATGGAACCACCCAGG -3'
(R):5'- CAGGAAGGAACAGACTTCGC -3'
Sequencing Primer
(F):5'- CAGGGGTTGAGTGACAGGCTC -3'
(R):5'- AGACTTCGCAAAGGCCTG -3'
|
Posted On |
2018-04-05 |