Incidental Mutation 'R7358:Sbf2'
| ID |
571107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
045444-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R7358 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109998555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 626
(E626G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033058
AA Change: E626G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: E626G
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
87 |
2.27e-33 |
SMART |
|
DENN
|
116 |
298 |
5.68e-75 |
SMART |
|
dDENN
|
351 |
420 |
2e-20 |
SMART |
|
Pfam:SBF2
|
530 |
752 |
3.3e-106 |
PFAM |
|
GRAM
|
869 |
955 |
1.3e-12 |
SMART |
|
low complexity region
|
1078 |
1089 |
N/A |
INTRINSIC |
|
Pfam:Myotub-related
|
1091 |
1544 |
8.3e-86 |
PFAM |
|
PH
|
1767 |
1872 |
3.05e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164759
AA Change: E626G
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: E626G
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
87 |
2.27e-33 |
SMART |
|
DENN
|
116 |
298 |
5.68e-75 |
SMART |
|
dDENN
|
351 |
420 |
2e-20 |
SMART |
|
Pfam:SBF2
|
528 |
752 |
1.6e-107 |
PFAM |
|
GRAM
|
869 |
955 |
1.3e-12 |
SMART |
|
Pfam:Myotub-related
|
1089 |
1521 |
1.6e-98 |
PFAM |
|
PH
|
1742 |
1847 |
3.05e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166020
AA Change: E580G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: E580G
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
75 |
9.26e-1 |
SMART |
|
DENN
|
70 |
252 |
5.68e-75 |
SMART |
|
dDENN
|
305 |
374 |
2e-20 |
SMART |
|
Pfam:SBF2
|
482 |
706 |
1.6e-107 |
PFAM |
|
GRAM
|
823 |
909 |
1.3e-12 |
SMART |
|
Pfam:Myotub-related
|
1043 |
1500 |
5.9e-98 |
PFAM |
|
PH
|
1721 |
1826 |
3.05e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9) |
| Other mutations in this stock |
Total: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
A |
17: 24,510,529 (GRCm39) |
Q983L |
probably benign |
Het |
| Agtr1a |
A |
T |
13: 30,564,962 (GRCm39) |
D9V |
probably benign |
Het |
| Ahcyl |
T |
C |
16: 45,974,201 (GRCm39) |
E392G |
probably damaging |
Het |
| Ankrd13c |
T |
A |
3: 157,697,374 (GRCm39) |
Y326* |
probably null |
Het |
| Ano2 |
A |
G |
6: 125,687,696 (GRCm39) |
D67G |
probably benign |
Het |
| Arhgef5 |
G |
A |
6: 43,256,507 (GRCm39) |
R1205H |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,590,448 (GRCm39) |
Y1055* |
probably null |
Het |
| Atad5 |
C |
T |
11: 80,023,862 (GRCm39) |
A1658V |
probably benign |
Het |
| Atp6ap1l |
T |
C |
13: 91,031,926 (GRCm39) |
D252G |
probably damaging |
Het |
| Bdkrb2 |
T |
C |
12: 105,558,800 (GRCm39) |
V347A |
possibly damaging |
Het |
| Ccdc187 |
A |
T |
2: 26,146,007 (GRCm39) |
L1194Q |
probably damaging |
Het |
| Chd9 |
A |
C |
8: 91,710,115 (GRCm39) |
D770A |
unknown |
Het |
| Chd9 |
A |
G |
8: 91,760,846 (GRCm39) |
D2197G |
unknown |
Het |
| Clip2 |
C |
A |
5: 134,531,484 (GRCm39) |
E774* |
probably null |
Het |
| Clspn |
A |
G |
4: 126,459,993 (GRCm39) |
T407A |
probably benign |
Het |
| Col24a1 |
T |
A |
3: 144,998,926 (GRCm39) |
|
probably null |
Het |
| Cradd |
T |
A |
10: 95,158,637 (GRCm39) |
T37S |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,456,501 (GRCm39) |
D849G |
|
Het |
| Ctbp2 |
A |
G |
7: 132,600,610 (GRCm39) |
F70S |
probably damaging |
Het |
| D3Ertd751e |
A |
T |
3: 41,701,000 (GRCm39) |
E6D |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,230,754 (GRCm39) |
F2782L |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,159,479 (GRCm39) |
|
probably null |
Het |
| Eif2s1 |
G |
T |
12: 78,927,969 (GRCm39) |
G215V |
probably damaging |
Het |
| Epg5 |
A |
T |
18: 78,002,252 (GRCm39) |
D557V |
possibly damaging |
Het |
| Eya4 |
C |
T |
10: 22,999,749 (GRCm39) |
|
probably null |
Het |
| Fpr1 |
C |
A |
17: 18,097,242 (GRCm39) |
R249L |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,339,788 (GRCm39) |
T1520A |
probably benign |
Het |
| Gapvd1 |
C |
T |
2: 34,580,473 (GRCm39) |
|
probably null |
Het |
| Gemin4 |
A |
C |
11: 76,104,278 (GRCm39) |
L161* |
probably null |
Het |
| Gid8 |
A |
T |
2: 180,359,779 (GRCm39) |
K221I |
probably benign |
Het |
| Gm21028 |
A |
C |
7: 42,227,913 (GRCm39) |
C34G |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,774,882 (GRCm39) |
S172P |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,832,423 (GRCm39) |
I3040V |
possibly damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,306,824 (GRCm39) |
V3190E |
probably damaging |
Het |
| Hrnr |
G |
T |
3: 93,230,448 (GRCm39) |
G229* |
probably null |
Het |
| Igfn1 |
A |
T |
1: 135,891,738 (GRCm39) |
V2259D |
probably damaging |
Het |
| Ism2 |
A |
G |
12: 87,326,814 (GRCm39) |
F375S |
probably damaging |
Het |
| Kcnk4 |
T |
A |
19: 6,903,478 (GRCm39) |
D357V |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,040 (GRCm39) |
R914G |
possibly damaging |
Het |
| Mars2 |
T |
C |
1: 55,276,729 (GRCm39) |
S111P |
probably damaging |
Het |
| Mogat2 |
G |
A |
7: 98,881,673 (GRCm39) |
P88S |
possibly damaging |
Het |
| Msh2 |
T |
A |
17: 88,024,957 (GRCm39) |
S612T |
possibly damaging |
Het |
| Nvl |
A |
G |
1: 180,962,601 (GRCm39) |
L123P |
probably damaging |
Het |
| Or1j20 |
T |
C |
2: 36,759,890 (GRCm39) |
V104A |
probably benign |
Het |
| Or2d3c |
A |
T |
7: 106,526,111 (GRCm39) |
L185Q |
probably damaging |
Het |
| Or51v15-ps1 |
A |
G |
7: 103,278,390 (GRCm39) |
L259P |
unknown |
Het |
| Or5m11b |
T |
A |
2: 85,805,780 (GRCm39) |
S64R |
possibly damaging |
Het |
| Or6c202 |
T |
A |
10: 128,995,939 (GRCm39) |
I305F |
probably benign |
Het |
| Or7e174 |
A |
T |
9: 20,012,169 (GRCm39) |
Y38F |
probably damaging |
Het |
| P2rx7 |
A |
T |
5: 122,804,205 (GRCm39) |
|
probably null |
Het |
| Pard3 |
A |
T |
8: 128,319,573 (GRCm39) |
I1149L |
probably damaging |
Het |
| Pcdha8 |
T |
A |
18: 37,125,830 (GRCm39) |
I104N |
probably damaging |
Het |
| Pecr |
G |
A |
1: 72,306,624 (GRCm39) |
T219I |
probably benign |
Het |
| Pgap2 |
A |
T |
7: 101,859,774 (GRCm39) |
|
probably benign |
Het |
| Phf7 |
T |
C |
14: 30,963,745 (GRCm39) |
R76G |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,141,090 (GRCm39) |
T268A |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,641,289 (GRCm39) |
T231A |
possibly damaging |
Het |
| Pkd1l1 |
T |
G |
11: 8,895,202 (GRCm39) |
E636A |
|
Het |
| Plscr3 |
T |
C |
11: 69,738,316 (GRCm39) |
S55P |
unknown |
Het |
| Pnlip |
T |
A |
19: 58,664,976 (GRCm39) |
I268N |
probably damaging |
Het |
| Podxl |
A |
T |
6: 31,501,929 (GRCm39) |
H343Q |
probably benign |
Het |
| Prkcd |
T |
C |
14: 30,327,793 (GRCm39) |
T213A |
probably benign |
Het |
| Prss22 |
T |
A |
17: 24,215,419 (GRCm39) |
Q119L |
probably benign |
Het |
| Psme3ip1 |
T |
C |
8: 95,302,327 (GRCm39) |
N235D |
possibly damaging |
Het |
| Ptprcap |
A |
G |
19: 4,206,238 (GRCm39) |
E107G |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,154,198 (GRCm38) |
T640A |
possibly damaging |
Het |
| Ptprh |
A |
T |
7: 4,554,006 (GRCm39) |
|
probably null |
Het |
| Rasa4 |
A |
G |
5: 136,124,448 (GRCm39) |
T166A |
probably benign |
Het |
| Scn2a |
T |
A |
2: 65,512,850 (GRCm39) |
Y203* |
probably null |
Het |
| Serpinb1a |
G |
C |
13: 33,026,981 (GRCm39) |
H320Q |
probably damaging |
Het |
| Shisa7 |
G |
A |
7: 4,832,920 (GRCm39) |
T464I |
probably benign |
Het |
| Slc47a2 |
G |
A |
11: 61,199,699 (GRCm39) |
A399V |
possibly damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,063,746 (GRCm39) |
T642A |
probably benign |
Het |
| Spag16 |
A |
G |
1: 69,883,526 (GRCm39) |
H85R |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,127,847 (GRCm39) |
L1721S |
possibly damaging |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
A |
5: 138,299,770 (GRCm39) |
L894M |
probably damaging |
Het |
| Sun2 |
A |
T |
15: 79,618,313 (GRCm39) |
F284Y |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,718,550 (GRCm39) |
N184K |
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,968,334 (GRCm39) |
N477K |
probably damaging |
Het |
| Ttbk2 |
C |
T |
2: 120,620,791 (GRCm39) |
R157H |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,537,649 (GRCm39) |
E34760K |
probably benign |
Het |
| Tysnd1 |
T |
C |
10: 61,532,427 (GRCm39) |
S360P |
probably damaging |
Het |
| Uqcc5 |
A |
G |
14: 30,846,560 (GRCm39) |
V53A |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,311,683 (GRCm39) |
L511I |
probably damaging |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,468 (GRCm39) |
T761S |
possibly damaging |
Het |
| Zdhhc18 |
G |
T |
4: 133,360,482 (GRCm39) |
C73* |
probably null |
Het |
| Zfp975 |
A |
T |
7: 42,312,215 (GRCm39) |
C133S |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 735,141 (GRCm39) |
E214G |
unknown |
Het |
| Zmym5 |
T |
A |
14: 57,031,597 (GRCm39) |
K504* |
probably null |
Het |
|
| Other mutations in Sbf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Sbf2
|
APN |
7 |
109,975,039 (GRCm39) |
splice site |
probably benign |
|
|
IGL01089:Sbf2
|
APN |
7 |
109,948,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01144:Sbf2
|
APN |
7 |
109,929,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01652:Sbf2
|
APN |
7 |
110,046,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01950:Sbf2
|
APN |
7 |
109,965,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02027:Sbf2
|
APN |
7 |
110,060,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02244:Sbf2
|
APN |
7 |
110,159,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02376:Sbf2
|
APN |
7 |
110,062,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03405:Sbf2
|
APN |
7 |
110,062,139 (GRCm39) |
missense |
probably damaging |
0.98 |
|
N/A - 535:Sbf2
|
UTSW |
7 |
109,911,959 (GRCm39) |
missense |
probably benign |
|
|
R0084:Sbf2
|
UTSW |
7 |
110,041,573 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0092:Sbf2
|
UTSW |
7 |
109,920,013 (GRCm39) |
splice site |
probably benign |
|
|
R0121:Sbf2
|
UTSW |
7 |
110,088,426 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0464:Sbf2
|
UTSW |
7 |
110,063,783 (GRCm39) |
splice site |
probably benign |
|
|
R0505:Sbf2
|
UTSW |
7 |
109,998,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:Sbf2
|
UTSW |
7 |
109,966,530 (GRCm39) |
splice site |
probably benign |
|
|
R0554:Sbf2
|
UTSW |
7 |
110,027,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Sbf2
|
UTSW |
7 |
109,929,890 (GRCm39) |
frame shift |
probably null |
|
|
R0619:Sbf2
|
UTSW |
7 |
109,909,469 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0799:Sbf2
|
UTSW |
7 |
109,940,562 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0898:Sbf2
|
UTSW |
7 |
109,970,859 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1077:Sbf2
|
UTSW |
7 |
109,966,379 (GRCm39) |
splice site |
probably benign |
|
|
R1167:Sbf2
|
UTSW |
7 |
109,963,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Sbf2
|
UTSW |
7 |
109,909,391 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1424:Sbf2
|
UTSW |
7 |
109,914,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1536:Sbf2
|
UTSW |
7 |
109,977,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1558:Sbf2
|
UTSW |
7 |
110,027,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Sbf2
|
UTSW |
7 |
109,939,283 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1762:Sbf2
|
UTSW |
7 |
109,911,965 (GRCm39) |
missense |
probably benign |
|
|
R1771:Sbf2
|
UTSW |
7 |
110,060,353 (GRCm39) |
nonsense |
probably null |
|
|
R1989:Sbf2
|
UTSW |
7 |
109,948,130 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2109:Sbf2
|
UTSW |
7 |
110,060,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Sbf2
|
UTSW |
7 |
110,159,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2444:Sbf2
|
UTSW |
7 |
109,929,905 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3765:Sbf2
|
UTSW |
7 |
109,974,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3808:Sbf2
|
UTSW |
7 |
110,088,487 (GRCm39) |
makesense |
probably null |
|
|
R3895:Sbf2
|
UTSW |
7 |
110,046,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3978:Sbf2
|
UTSW |
7 |
109,929,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4056:Sbf2
|
UTSW |
7 |
110,040,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4057:Sbf2
|
UTSW |
7 |
110,040,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4111:Sbf2
|
UTSW |
7 |
110,027,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Sbf2
|
UTSW |
7 |
109,948,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4670:Sbf2
|
UTSW |
7 |
109,934,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Sbf2
|
UTSW |
7 |
110,020,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Sbf2
|
UTSW |
7 |
109,950,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4811:Sbf2
|
UTSW |
7 |
109,971,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Sbf2
|
UTSW |
7 |
109,977,146 (GRCm39) |
intron |
probably benign |
|
|
R5110:Sbf2
|
UTSW |
7 |
109,963,864 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5143:Sbf2
|
UTSW |
7 |
110,021,747 (GRCm39) |
nonsense |
probably null |
|
|
R5443:Sbf2
|
UTSW |
7 |
109,977,135 (GRCm39) |
intron |
probably benign |
|
|
R5457:Sbf2
|
UTSW |
7 |
109,912,037 (GRCm39) |
missense |
probably benign |
|
|
R5641:Sbf2
|
UTSW |
7 |
110,038,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:Sbf2
|
UTSW |
7 |
109,977,303 (GRCm39) |
nonsense |
probably null |
|
|
R5948:Sbf2
|
UTSW |
7 |
110,088,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Sbf2
|
UTSW |
7 |
109,977,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6052:Sbf2
|
UTSW |
7 |
110,040,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6142:Sbf2
|
UTSW |
7 |
109,948,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6327:Sbf2
|
UTSW |
7 |
110,040,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6356:Sbf2
|
UTSW |
7 |
109,971,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Sbf2
|
UTSW |
7 |
110,062,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6587:Sbf2
|
UTSW |
7 |
110,040,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6696:Sbf2
|
UTSW |
7 |
110,159,505 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6986:Sbf2
|
UTSW |
7 |
109,929,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7147:Sbf2
|
UTSW |
7 |
110,046,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7414:Sbf2
|
UTSW |
7 |
109,913,271 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7418:Sbf2
|
UTSW |
7 |
109,965,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Sbf2
|
UTSW |
7 |
110,038,055 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7425:Sbf2
|
UTSW |
7 |
109,974,984 (GRCm39) |
nonsense |
probably null |
|
|
R7431:Sbf2
|
UTSW |
7 |
109,950,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7497:Sbf2
|
UTSW |
7 |
110,213,923 (GRCm39) |
nonsense |
probably null |
|
|
R7556:Sbf2
|
UTSW |
7 |
109,913,260 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7604:Sbf2
|
UTSW |
7 |
109,977,274 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7707:Sbf2
|
UTSW |
7 |
109,929,920 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7746:Sbf2
|
UTSW |
7 |
110,040,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7812:Sbf2
|
UTSW |
7 |
110,049,170 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7849:Sbf2
|
UTSW |
7 |
109,971,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8026:Sbf2
|
UTSW |
7 |
109,934,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8048:Sbf2
|
UTSW |
7 |
109,914,289 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8305:Sbf2
|
UTSW |
7 |
109,970,825 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8337:Sbf2
|
UTSW |
7 |
110,040,669 (GRCm39) |
missense |
probably benign |
|
|
R8773:Sbf2
|
UTSW |
7 |
109,948,202 (GRCm39) |
missense |
probably benign |
|
|
R8786:Sbf2
|
UTSW |
7 |
110,063,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8812:Sbf2
|
UTSW |
7 |
109,929,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Sbf2
|
UTSW |
7 |
110,049,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8932:Sbf2
|
UTSW |
7 |
110,040,155 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8954:Sbf2
|
UTSW |
7 |
110,038,118 (GRCm39) |
nonsense |
probably null |
|
|
R8991:Sbf2
|
UTSW |
7 |
109,911,896 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9119:Sbf2
|
UTSW |
7 |
109,911,292 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9310:Sbf2
|
UTSW |
7 |
109,914,292 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9344:Sbf2
|
UTSW |
7 |
109,940,535 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9346:Sbf2
|
UTSW |
7 |
109,919,946 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9404:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9406:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9408:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9472:Sbf2
|
UTSW |
7 |
109,970,798 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9554:Sbf2
|
UTSW |
7 |
110,040,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9624:Sbf2
|
UTSW |
7 |
109,963,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9653:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9709:Sbf2
|
UTSW |
7 |
110,027,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF005:Sbf2
|
UTSW |
7 |
109,916,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTAAGGAGAGTAACGCTGGC -3'
(R):5'- CGTAAAGCGTAACAGTCCCG -3'
Sequencing Primer
(F):5'- AGAGTAACGCTGGCTGGACC -3'
(R):5'- ACGCTGTGTTTTTAAATGAGTGCAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation