Incidental Mutation 'IGL00950:Sox13'
ID26688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox13
Ensembl Gene ENSMUSG00000070643
Gene NameSRY (sex determining region Y)-box 13
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00950
Quality Score
Status
Chromosome1
Chromosomal Location133382303-133424377 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 133387106 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 67,120,912 V923A possibly damaging Het
Als2 G A 1: 59,215,382 A272V probably benign Het
Chrne C T 11: 70,619,157 probably benign Het
D430042O09Rik T A 7: 125,843,221 D767E probably benign Het
Dhx34 C T 7: 16,199,826 R947H probably damaging Het
Dnah7b A T 1: 46,214,322 M1796L probably benign Het
Doxl2 A C 6: 48,978,131 N635T possibly damaging Het
Dstyk C T 1: 132,459,988 T820I probably damaging Het
Eif4g1 A G 16: 20,683,628 K942E probably damaging Het
Fbn1 C T 2: 125,358,823 G1318E probably damaging Het
Galnt5 T C 2: 57,999,132 V248A probably benign Het
Gcnt4 A G 13: 96,946,556 Y120C probably damaging Het
Gdf5 A G 2: 155,941,706 V442A probably damaging Het
H2-Q4 A C 17: 35,382,858 D232A probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Htt A G 5: 34,891,441 I2423V probably benign Het
Itk T A 11: 46,367,896 I60F probably damaging Het
Izumo1 T A 7: 45,622,871 C25* probably null Het
Lamc1 G T 1: 153,240,495 P980H probably damaging Het
Ncor2 C A 5: 125,086,890 R367L unknown Het
Pcdhb17 A T 18: 37,486,006 probably null Het
Rnf123 C A 9: 108,067,395 probably null Het
Sh3bgrl2 T A 9: 83,577,490 F34I probably damaging Het
Sharpin T C 15: 76,348,224 E171G probably damaging Het
Slc22a30 A T 19: 8,335,788 D544E probably benign Het
Slc36a1 T C 11: 55,226,128 C328R probably damaging Het
Sntg2 T C 12: 30,312,681 probably benign Het
Sppl2b T G 10: 80,864,094 L37R probably damaging Het
Strip1 T A 3: 107,621,445 S390C probably damaging Het
Stxbp5 T A 10: 9,808,602 probably benign Het
Supt16 T C 14: 52,161,798 E1008G possibly damaging Het
Vmn1r174 C A 7: 23,754,486 H192Q possibly damaging Het
Vsir C T 10: 60,364,284 Q154* probably null Het
Xrn2 A T 2: 147,028,146 R252* probably null Het
Other mutations in Sox13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Sox13 APN 1 133393135 missense probably benign
IGL01586:Sox13 APN 1 133389444 missense possibly damaging 0.70
IGL02750:Sox13 APN 1 133383796 missense probably benign 0.17
IGL02902:Sox13 APN 1 133389466 missense probably damaging 1.00
IGL03388:Sox13 APN 1 133388948 missense probably damaging 0.99
PIT4802001:Sox13 UTSW 1 133386258 missense probably damaging 1.00
R0515:Sox13 UTSW 1 133383719 missense probably damaging 1.00
R1328:Sox13 UTSW 1 133383817 missense probably damaging 0.99
R3766:Sox13 UTSW 1 133390798 missense possibly damaging 0.92
R4591:Sox13 UTSW 1 133383683 missense probably damaging 1.00
R4613:Sox13 UTSW 1 133388934 missense probably benign 0.29
R5715:Sox13 UTSW 1 133386183 critical splice donor site probably null
R5909:Sox13 UTSW 1 133383889 missense probably benign 0.04
R6155:Sox13 UTSW 1 133393267 missense probably damaging 1.00
R7150:Sox13 UTSW 1 133385505 missense possibly damaging 0.89
R7225:Sox13 UTSW 1 133387124 missense probably benign 0.10
R7232:Sox13 UTSW 1 133384391 intron probably null
R7443:Sox13 UTSW 1 133384573 missense probably damaging 1.00
R7443:Sox13 UTSW 1 133384631 missense probably damaging 1.00
X0021:Sox13 UTSW 1 133385998 missense probably benign 0.00
Posted On2013-04-17