Incidental Mutation 'IGL02672:Sox8'
ID302962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox8
Ensembl Gene ENSMUSG00000024176
Gene NameSRY (sex determining region Y)-box 8
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02672
Quality Score
Status
Chromosome17
Chromosomal Location25565892-25570686 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 25568989 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 162 (D162V)
Ref Sequence ENSEMBL: ENSMUSP00000025003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025003] [ENSMUST00000173447]
Predicted Effect probably damaging
Transcript: ENSMUST00000025003
AA Change: D162V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025003
Gene: ENSMUSG00000024176
AA Change: D162V

DomainStartEndE-ValueType
Pfam:Sox_N 18 86 3.8e-27 PFAM
HMG 98 168 3.86e-28 SMART
low complexity region 208 228 N/A INTRINSIC
low complexity region 303 321 N/A INTRINSIC
low complexity region 375 397 N/A INTRINSIC
low complexity region 407 425 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163493
Predicted Effect probably damaging
Transcript: ENSMUST00000173447
AA Change: D162V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133403
Gene: ENSMUSG00000024176
AA Change: D162V

DomainStartEndE-ValueType
Pfam:Sox_N 3 87 3.3e-25 PFAM
HMG 98 168 3.86e-28 SMART
Predicted Effect unknown
Transcript: ENSMUST00000174560
AA Change: D59V
SMART Domains Protein: ENSMUSP00000133742
Gene: ENSMUSG00000024176
AA Change: D59V

DomainStartEndE-ValueType
HMG 1 66 1.19e-19 SMART
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 the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a 30% decrease in adult body weight due to diminished fat stores, and a reduction of several tarsals which subsequently fail to fuse. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,174,561 probably benign Het
Alpi A G 1: 87,101,272 L60P probably damaging Het
Arpc1a A C 5: 145,104,887 I327L probably damaging Het
Col5a1 C T 2: 27,974,715 A737V unknown Het
Dcaf7 T C 11: 106,054,858 probably benign Het
Dnah9 T G 11: 65,927,601 I3304L probably benign Het
Dpp10 T A 1: 123,376,647 H508L probably benign Het
Dync1i1 A G 6: 5,767,034 D86G probably benign Het
Enpp7 T C 11: 118,992,340 probably null Het
Fbxw9 C A 8: 85,066,053 probably null Het
Foxred2 A G 15: 77,945,577 probably null Het
Gas2l2 C T 11: 83,425,131 R254H probably damaging Het
Gatad2b C T 3: 90,341,891 L79F possibly damaging Het
Igf1r A T 7: 68,190,033 D696V probably benign Het
Kcnk5 A G 14: 20,146,512 I96T probably damaging Het
Lrrc8c C T 5: 105,607,358 T333M possibly damaging Het
Mcm10 T C 2: 5,001,281 T417A probably benign Het
Mesp2 T C 7: 79,811,397 S157P probably benign Het
Naca A G 10: 128,040,283 probably benign Het
Olfr1102 A T 2: 87,002,073 M35L probably benign Het
Osgepl1 A G 1: 53,320,111 T260A probably benign Het
Otop1 T C 5: 38,277,826 probably null Het
Pdk1 T C 2: 71,895,752 S335P probably damaging Het
Phkb A G 8: 85,942,358 N338S probably benign Het
Pogz G A 3: 94,856,099 V61I probably benign Het
Ppp4r1 A G 17: 65,840,947 Y928C probably damaging Het
Rab17 T C 1: 90,959,218 E160G probably damaging Het
Rasgrp3 T A 17: 75,496,417 F70Y probably benign Het
Rere T A 4: 150,510,026 N364K unknown Het
Ryr1 A T 7: 29,004,519 probably benign Het
Sae1 A G 7: 16,370,348 V112A probably damaging Het
Serpinb6d C T 13: 33,671,389 H349Y probably benign Het
Slc12a1 T C 2: 125,170,676 V286A probably damaging Het
Smad3 A T 9: 63,667,727 probably null Het
Sptbn1 A G 11: 30,137,239 F1067L probably damaging Het
Tmprss3 T C 17: 31,191,007 Y211C probably damaging Het
Top2b T C 14: 16,409,166 probably benign Het
Tpp1 A T 7: 105,746,961 H510Q probably benign Het
Ugcg T A 4: 59,218,587 probably benign Het
Vmn2r96 T A 17: 18,598,114 I651N probably benign Het
Wdr25 A T 12: 108,898,081 K51* probably null Het
Other mutations in Sox8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01417:Sox8 APN 17 25567528 unclassified probably null
IGL01918:Sox8 APN 17 25570137 missense probably damaging 1.00
IGL03371:Sox8 APN 17 25567440 missense probably damaging 1.00
R1398:Sox8 UTSW 17 25567883 missense probably benign 0.01
R1673:Sox8 UTSW 17 25567482 missense possibly damaging 0.77
R1742:Sox8 UTSW 17 25567941 missense probably damaging 0.99
R4019:Sox8 UTSW 17 25570297 missense probably damaging 1.00
R4353:Sox8 UTSW 17 25567335 makesense probably null
R4466:Sox8 UTSW 17 25568905 missense probably benign 0.37
R4893:Sox8 UTSW 17 25568989 missense probably damaging 1.00
R4929:Sox8 UTSW 17 25570356 missense probably benign 0.21
R5915:Sox8 UTSW 17 25567469 missense probably damaging 1.00
R6114:Sox8 UTSW 17 25567520 missense probably damaging 1.00
R6915:Sox8 UTSW 17 25567914 missense probably damaging 1.00
R7030:Sox8 UTSW 17 25570108 critical splice donor site probably null
R7232:Sox8 UTSW 17 25567540 missense probably benign 0.01
R7549:Sox8 UTSW 17 25567961 missense probably damaging 0.99
Z1177:Sox8 UTSW 17 25568984 missense probably damaging 1.00
Z1177:Sox8 UTSW 17 25567743 missense probably benign 0.00
Posted On2015-04-16