Incidental Mutation 'IGL03388:Sox13'
ID420957
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 #IGL03388
Quality Score
Status
Chromosome1
Chromosomal Location133382303-133424377 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 133388948 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 207 (L207H)
Ref Sequence ENSEMBL: ENSMUSP00000119729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094551] [ENSMUST00000144386] [ENSMUST00000153799]
Predicted Effect probably damaging
Transcript: ENSMUST00000094551
AA Change: L207H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092130
Gene: ENSMUSG00000070643
AA Change: L207H

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 damaging
Transcript: ENSMUST00000144386
AA Change: L189H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122980
Gene: ENSMUSG00000070643
AA Change: L189H

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 damaging
Transcript: ENSMUST00000153799
AA Change: L207H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119729
Gene: ENSMUSG00000070643
AA Change: L207H

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T C 11: 117,802,770 probably benign Het
B3gnt5 A G 16: 19,770,051 K340R possibly damaging Het
Ccr3 A G 9: 124,028,621 probably benign Het
Cdan1 A G 2: 120,730,511 probably benign Het
Clasp1 T A 1: 118,505,503 D237E possibly damaging Het
Ddx18 T C 1: 121,565,923 K111E possibly damaging Het
Defa21 T C 8: 21,025,748 L54P probably damaging Het
Dennd3 T C 15: 73,544,359 V486A probably damaging Het
Dnah9 T A 11: 65,947,542 D3143V probably damaging Het
Dnm1l A G 16: 16,314,052 probably benign Het
Epb41 T C 4: 131,974,794 Y510C probably damaging Het
Fat4 T C 3: 38,957,227 Y2159H probably damaging Het
Fmo1 A G 1: 162,836,147 V271A probably benign Het
Gm11492 T A 11: 87,568,216 L472* probably null Het
Gm12185 A G 11: 48,908,286 V460A probably benign Het
Hspa8 T C 9: 40,804,928 probably benign Het
Hspb7 A G 4: 141,424,045 E166G probably damaging Het
Il31ra C A 13: 112,546,212 S120I probably damaging Het
Kdm5b A G 1: 134,627,322 T1323A probably benign Het
Lgals9 T A 11: 78,963,421 I346F probably damaging Het
Lgi2 T C 5: 52,538,477 D372G probably damaging Het
Magi3 A C 3: 104,015,841 S1187A probably benign Het
Nr1d2 A G 14: 18,215,403 F203S probably benign Het
Nup210l G A 3: 90,170,044 V896I probably damaging Het
Nxf7 T C X: 135,584,740 K440E probably damaging Het
Olfr1505 T A 19: 13,919,620 V200D probably damaging Het
Olfr776 A T 10: 129,261,443 I161F probably benign Het
Pcdhb6 T C 18: 37,336,137 S20P probably damaging Het
Per2 G T 1: 91,444,789 probably benign Het
Pi15 G A 1: 17,602,777 A67T probably benign Het
Pnp2 A T 14: 50,963,538 N160I probably damaging Het
Ppp1r12c A G 7: 4,482,070 probably benign Het
Rabgap1l A T 1: 160,733,523 probably null Het
Rnf115 G A 3: 96,788,668 V257M probably damaging Het
Rtkn T A 6: 83,150,090 V346D probably benign Het
Rubcn A T 16: 32,841,568 N427K probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sel1l2 A C 2: 140,263,364 probably benign Het
Slc5a5 A G 8: 70,890,328 V196A probably benign Het
Tmtc2 A G 10: 105,321,483 probably benign Het
Trip12 T C 1: 84,743,186 K1409R probably damaging Het
Ttn C T 2: 76,967,137 A528T probably benign Het
Ubr4 T C 4: 139,415,032 I1310T probably damaging Het
Ypel5 T C 17: 72,846,405 F35L probably damaging Het
Zfp13 G T 17: 23,576,914 R228S probably benign Het
Other mutations in Sox13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Sox13 APN 1 133387106 missense probably benign 0.02
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
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
R8181:Sox13 UTSW 1 133383760 missense probably benign 0.04
X0021:Sox13 UTSW 1 133385998 missense probably benign 0.00
Posted On2016-08-02