Incidental Mutation 'IGL00950:Sox13'
| ID |
26688 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sox13
|
| Ensembl Gene |
ENSMUSG00000070643 |
| Gene Name |
SRY (sex determining region Y)-box 13 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
133310041-133352115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133314844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 272
(V272A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094551]
[ENSMUST00000144386]
[ENSMUST00000153799]
|
| AlphaFold |
Q04891 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094551
AA Change: V272A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000092130
Gene: ENSMUSG00000070643
AA Change: V272A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
171 |
217 |
N/A |
INTRINSIC |
|
HMG
|
415 |
485 |
3.09e-27 |
SMART |
|
low complexity region
|
593 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126530
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144386
AA Change: V253A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000122980
Gene: ENSMUSG00000070643
AA Change: V253A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
153 |
197 |
N/A |
INTRINSIC |
|
HMG
|
396 |
466 |
3.09e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145922
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153799
AA Change: V272A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000119729
Gene: ENSMUSG00000070643
AA Change: V272A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
153 |
199 |
N/A |
INTRINSIC |
|
HMG
|
397 |
467 |
3.09e-27 |
SMART |
|
low complexity region
|
575 |
589 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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 SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired development of gamma-delta T cells and severe postnatal growth defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,770,660 (GRCm39) |
V923A |
possibly damaging |
Het |
| Als2 |
G |
A |
1: 59,254,541 (GRCm39) |
A272V |
probably benign |
Het |
| Aoc1l1 |
A |
C |
6: 48,955,065 (GRCm39) |
N635T |
possibly damaging |
Het |
| Chrne |
C |
T |
11: 70,509,983 (GRCm39) |
|
probably benign |
Het |
| Dhx34 |
C |
T |
7: 15,933,751 (GRCm39) |
R947H |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,253,482 (GRCm39) |
M1796L |
probably benign |
Het |
| Dstyk |
C |
T |
1: 132,387,726 (GRCm39) |
T820I |
probably damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,502,378 (GRCm39) |
K942E |
probably damaging |
Het |
| Fbn1 |
C |
T |
2: 125,200,743 (GRCm39) |
G1318E |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,144 (GRCm39) |
V248A |
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,064 (GRCm39) |
Y120C |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,626 (GRCm39) |
V442A |
probably damaging |
Het |
| H2-Q4 |
A |
C |
17: 35,601,834 (GRCm39) |
D232A |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,048,785 (GRCm39) |
I2423V |
probably benign |
Het |
| Itk |
T |
A |
11: 46,258,723 (GRCm39) |
I60F |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,272,295 (GRCm39) |
C25* |
probably null |
Het |
| Katnip |
T |
A |
7: 125,442,393 (GRCm39) |
D767E |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,116,241 (GRCm39) |
P980H |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,163,954 (GRCm39) |
R367L |
unknown |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,059 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
C |
A |
9: 107,944,594 (GRCm39) |
|
probably null |
Het |
| Sh3bgrl2 |
T |
A |
9: 83,459,543 (GRCm39) |
F34I |
probably damaging |
Het |
| Sharpin |
T |
C |
15: 76,232,424 (GRCm39) |
E171G |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,313,152 (GRCm39) |
D544E |
probably benign |
Het |
| Slc36a1 |
T |
C |
11: 55,116,954 (GRCm39) |
C328R |
probably damaging |
Het |
| Sntg2 |
T |
C |
12: 30,362,680 (GRCm39) |
|
probably benign |
Het |
| Sppl2b |
T |
G |
10: 80,699,928 (GRCm39) |
L37R |
probably damaging |
Het |
| Strip1 |
T |
A |
3: 107,528,761 (GRCm39) |
S390C |
probably damaging |
Het |
| Stxbp5 |
T |
A |
10: 9,684,346 (GRCm39) |
|
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,399,255 (GRCm39) |
E1008G |
possibly damaging |
Het |
| Vmn1r174 |
C |
A |
7: 23,453,911 (GRCm39) |
H192Q |
possibly damaging |
Het |
| Vsir |
C |
T |
10: 60,200,063 (GRCm39) |
Q154* |
probably null |
Het |
| Xrn2 |
A |
T |
2: 146,870,066 (GRCm39) |
R252* |
probably null |
Het |
|
| Other mutations in Sox13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01147:Sox13
|
APN |
1 |
133,320,873 (GRCm39) |
missense |
probably benign |
|
|
IGL01586:Sox13
|
APN |
1 |
133,317,182 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02750:Sox13
|
APN |
1 |
133,311,534 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02902:Sox13
|
APN |
1 |
133,317,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03388:Sox13
|
APN |
1 |
133,316,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4802001:Sox13
|
UTSW |
1 |
133,313,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0515:Sox13
|
UTSW |
1 |
133,311,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1328:Sox13
|
UTSW |
1 |
133,311,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3766:Sox13
|
UTSW |
1 |
133,318,536 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4591:Sox13
|
UTSW |
1 |
133,311,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Sox13
|
UTSW |
1 |
133,316,672 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5715:Sox13
|
UTSW |
1 |
133,313,921 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5909:Sox13
|
UTSW |
1 |
133,311,627 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6155:Sox13
|
UTSW |
1 |
133,321,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7150:Sox13
|
UTSW |
1 |
133,313,243 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7225:Sox13
|
UTSW |
1 |
133,314,862 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7232:Sox13
|
UTSW |
1 |
133,312,129 (GRCm39) |
splice site |
probably null |
|
|
R7443:Sox13
|
UTSW |
1 |
133,312,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7443:Sox13
|
UTSW |
1 |
133,312,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Sox13
|
UTSW |
1 |
133,311,498 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9200:Sox13
|
UTSW |
1 |
133,313,743 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9593:Sox13
|
UTSW |
1 |
133,316,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Sox13
|
UTSW |
1 |
133,313,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation