Incidental Mutation 'R3766:Sox13'
| ID |
274689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox13
|
| Ensembl Gene |
ENSMUSG00000070643 |
| Gene Name |
SRY (sex determining region Y)-box 13 |
| Synonyms |
|
| MMRRC Submission |
040743-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3766 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133310041-133352115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 133318536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 81
(R81G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094551]
[ENSMUST00000144386]
[ENSMUST00000153799]
|
| AlphaFold |
Q04891 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094551
AA Change: R81G
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092130
Gene: ENSMUSG00000070643
AA Change: R81G
| 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 |
possibly damaging
Transcript: ENSMUST00000144386
AA Change: R63G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122980
Gene: ENSMUSG00000070643
AA Change: R63G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
153 |
197 |
N/A |
INTRINSIC |
|
HMG
|
396 |
466 |
3.09e-27 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153799
AA Change: R81G
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119729
Gene: ENSMUSG00000070643
AA Change: R81G
| 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 |
|
| Meta Mutation Damage Score |
0.0631 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (41/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
C |
T |
5: 125,583,326 (GRCm39) |
T294M |
probably damaging |
Het |
| Brf2 |
G |
T |
8: 27,614,496 (GRCm39) |
T230N |
possibly damaging |
Het |
| Ccne2 |
A |
G |
4: 11,199,293 (GRCm39) |
|
probably benign |
Het |
| Crbn |
T |
C |
6: 106,771,987 (GRCm39) |
K106E |
possibly damaging |
Het |
| Cttnbp2nl |
G |
A |
3: 104,912,117 (GRCm39) |
T589I |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,514,643 (GRCm39) |
S1091P |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,442,316 (GRCm39) |
V178A |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,003,253 (GRCm39) |
S111P |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,360,001 (GRCm39) |
M1V |
probably null |
Het |
| Gm29394 |
C |
T |
15: 57,912,024 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,813,572 (GRCm39) |
D2601G |
probably damaging |
Het |
| Hspa13 |
T |
C |
16: 75,561,974 (GRCm39) |
D75G |
probably benign |
Het |
| Itgav |
T |
C |
2: 83,632,229 (GRCm39) |
|
probably null |
Het |
| Kif6 |
A |
T |
17: 50,065,671 (GRCm39) |
|
probably benign |
Het |
| Lypla1 |
G |
A |
1: 4,911,201 (GRCm39) |
R104Q |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,570,595 (GRCm39) |
K709E |
unknown |
Het |
| Or52l1 |
A |
T |
7: 104,830,088 (GRCm39) |
I159K |
probably damaging |
Het |
| Or56b1b |
G |
A |
7: 108,164,402 (GRCm39) |
P200L |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,249 (GRCm39) |
K70* |
probably null |
Het |
| Pex5l |
T |
G |
3: 33,061,327 (GRCm39) |
D174A |
probably benign |
Het |
| Plac8l1 |
A |
T |
18: 42,313,460 (GRCm39) |
M94K |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,311,757 (GRCm39) |
|
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,208,996 (GRCm39) |
T471A |
probably benign |
Het |
| Pus3 |
C |
A |
9: 35,477,968 (GRCm39) |
T400K |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,136,863 (GRCm38) |
|
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 78,996,057 (GRCm39) |
T569A |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,964 (GRCm39) |
Q292R |
possibly damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,674,647 (GRCm39) |
D34G |
probably damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,722,517 (GRCm39) |
R456G |
probably damaging |
Het |
| Spag9 |
A |
G |
11: 93,951,109 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
C |
T |
17: 88,942,788 (GRCm39) |
P65S |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,761 (GRCm39) |
D197E |
probably benign |
Het |
| Tcim |
T |
A |
8: 24,928,765 (GRCm39) |
R50W |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,579,688 (GRCm39) |
D235G |
probably benign |
Het |
| Trim59 |
A |
G |
3: 68,944,137 (GRCm39) |
V401A |
probably benign |
Het |
| Trpm3 |
A |
C |
19: 22,425,741 (GRCm39) |
Q32P |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,480,614 (GRCm39) |
M1018K |
probably damaging |
Het |
| Ube2o |
A |
G |
11: 116,437,689 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uvrag |
G |
T |
7: 98,537,350 (GRCm39) |
S615* |
probably null |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,929 (GRCm39) |
I302L |
probably benign |
Het |
| Vmn2r73 |
C |
T |
7: 85,521,198 (GRCm39) |
V257I |
probably benign |
Het |
|
| Other mutations in Sox13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Sox13
|
APN |
1 |
133,314,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTCAATGGCTGGCACAAC -3'
(R):5'- TGAAACGCAGGTCTCTTGCTG -3'
Sequencing Primer
(F):5'- TGGCTGGCACAACTGGAAG -3'
(R):5'- TGTCATTTATCAGGTCCTATGAGCAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation