Incidental Mutation 'R0515:Sox13'
ID |
48173 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sox13
|
Ensembl Gene |
ENSMUSG00000070643 |
Gene Name |
SRY (sex determining region Y)-box 13 |
Synonyms |
|
MMRRC Submission |
038709-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0515 (G1)
|
Quality Score |
132 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
133310041-133352115 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 133311457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 592
(Y592N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119729
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094551]
[ENSMUST00000129213]
[ENSMUST00000135222]
[ENSMUST00000144386]
[ENSMUST00000153799]
|
AlphaFold |
Q04891 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094551
AA Change: Y592N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092130 Gene: ENSMUSG00000070643 AA Change: Y592N
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: ENSMUST00000129213
|
SMART Domains |
Protein: ENSMUSP00000122244 Gene: ENSMUSG00000070644
Domain | Start | End | E-Value | Type |
Pfam:Choline_kinase
|
1 |
200 |
4.7e-64 |
PFAM |
Pfam:APH
|
2 |
227 |
2.2e-21 |
PFAM |
Pfam:EcKinase
|
58 |
211 |
1.8e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135222
|
SMART Domains |
Protein: ENSMUSP00000114272 Gene: ENSMUSG00000070644
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
Pfam:APH
|
84 |
331 |
1e-19 |
PFAM |
Pfam:Choline_kinase
|
104 |
303 |
2.7e-64 |
PFAM |
Pfam:EcKinase
|
163 |
313 |
2.8e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144386
|
SMART Domains |
Protein: ENSMUSP00000122980 Gene: ENSMUSG00000070643
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 damaging
Transcript: ENSMUST00000153799
AA Change: Y592N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119729 Gene: ENSMUSG00000070643 AA Change: Y592N
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 |
0.0650 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
98% (40/41) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
App |
C |
T |
16: 84,900,232 (GRCm39) |
|
probably benign |
Het |
Arhgap11a |
G |
A |
2: 113,667,816 (GRCm39) |
T395I |
possibly damaging |
Het |
Arhgef38 |
T |
G |
3: 132,855,301 (GRCm39) |
H262P |
probably damaging |
Het |
Cd96 |
A |
G |
16: 45,884,268 (GRCm39) |
|
probably benign |
Het |
Cfap57 |
A |
G |
4: 118,477,599 (GRCm39) |
S2P |
probably damaging |
Het |
Cltc |
A |
G |
11: 86,599,865 (GRCm39) |
S948P |
probably benign |
Het |
Cyp3a41a |
A |
T |
5: 145,654,810 (GRCm39) |
H30Q |
probably damaging |
Het |
Dcp2 |
C |
T |
18: 44,532,798 (GRCm39) |
L105F |
probably benign |
Het |
Dennd4c |
T |
C |
4: 86,731,703 (GRCm39) |
V887A |
possibly damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,582,408 (GRCm39) |
V515A |
probably damaging |
Het |
Gm11360 |
T |
A |
13: 28,140,143 (GRCm39) |
D2E |
probably damaging |
Het |
Gpank1 |
G |
T |
17: 35,342,475 (GRCm39) |
A149S |
probably damaging |
Het |
Gtf2i |
C |
A |
5: 134,271,773 (GRCm39) |
S792I |
probably damaging |
Het |
Hvcn1 |
A |
G |
5: 122,371,582 (GRCm39) |
N41D |
probably damaging |
Het |
Klk1b5 |
A |
G |
7: 43,867,957 (GRCm39) |
Y43C |
probably damaging |
Het |
Lmtk2 |
A |
G |
5: 144,111,809 (GRCm39) |
D843G |
possibly damaging |
Het |
Lrriq1 |
A |
T |
10: 102,904,829 (GRCm39) |
|
probably null |
Het |
Mapk8ip1 |
A |
T |
2: 92,217,701 (GRCm39) |
I198N |
possibly damaging |
Het |
Mill1 |
T |
C |
7: 17,998,798 (GRCm39) |
V336A |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,548,861 (GRCm39) |
M1001L |
probably benign |
Het |
Nfe2 |
T |
A |
15: 103,157,854 (GRCm39) |
T46S |
probably null |
Het |
Or8b40 |
T |
C |
9: 38,027,313 (GRCm39) |
S74P |
probably damaging |
Het |
Or9q1 |
T |
C |
19: 13,805,185 (GRCm39) |
S192G |
probably damaging |
Het |
Parp4 |
T |
C |
14: 56,851,124 (GRCm39) |
V709A |
probably damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Prex2 |
A |
T |
1: 11,270,098 (GRCm39) |
Q1261L |
probably damaging |
Het |
Prl8a8 |
T |
A |
13: 27,692,350 (GRCm39) |
I214L |
probably damaging |
Het |
Rictor |
C |
T |
15: 6,798,782 (GRCm39) |
T343M |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Siglecf |
T |
C |
7: 43,005,055 (GRCm39) |
|
probably null |
Het |
Slco1b2 |
T |
C |
6: 141,615,136 (GRCm39) |
F347S |
possibly damaging |
Het |
Synj1 |
C |
T |
16: 90,790,910 (GRCm39) |
A84T |
possibly damaging |
Het |
Tent5b |
A |
T |
4: 133,213,450 (GRCm39) |
H107L |
possibly damaging |
Het |
Trpv5 |
T |
A |
6: 41,651,145 (GRCm39) |
|
probably benign |
Het |
Tshz1 |
A |
G |
18: 84,034,090 (GRCm39) |
V106A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGCAGTTTCACCCATCACCTG -3'
(R):5'- GGAAGGCCCCTTATTTGACCATGAC -3'
Sequencing Primer
(F):5'- CGGATGGGAACAAGGTCTTT -3'
(R):5'- TATTTGACCATGACAGGCACTAGG -3'
|
Posted On |
2013-06-12 |