Incidental Mutation 'IGL02672:Sox8'
ID 302962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox8
Ensembl Gene ENSMUSG00000024176
Gene Name SRY (sex determining region Y)-box 8
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02672
Quality Score
Status
Chromosome 17
Chromosomal Location 25784866-25789660 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25787963 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q04886
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: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Sox8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01417:Sox8 APN 17 25,786,502 (GRCm39) splice site probably null
IGL01918:Sox8 APN 17 25,789,111 (GRCm39) missense probably damaging 1.00
IGL03371:Sox8 APN 17 25,786,414 (GRCm39) missense probably damaging 1.00
R1398:Sox8 UTSW 17 25,786,857 (GRCm39) missense probably benign 0.01
R1673:Sox8 UTSW 17 25,786,456 (GRCm39) missense possibly damaging 0.77
R1742:Sox8 UTSW 17 25,786,915 (GRCm39) missense probably damaging 0.99
R4019:Sox8 UTSW 17 25,789,271 (GRCm39) missense probably damaging 1.00
R4353:Sox8 UTSW 17 25,786,309 (GRCm39) makesense probably null
R4466:Sox8 UTSW 17 25,787,879 (GRCm39) missense probably benign 0.37
R4893:Sox8 UTSW 17 25,787,963 (GRCm39) missense probably damaging 1.00
R4929:Sox8 UTSW 17 25,789,330 (GRCm39) missense probably benign 0.21
R5915:Sox8 UTSW 17 25,786,443 (GRCm39) missense probably damaging 1.00
R6114:Sox8 UTSW 17 25,786,494 (GRCm39) missense probably damaging 1.00
R6915:Sox8 UTSW 17 25,786,888 (GRCm39) missense probably damaging 1.00
R7030:Sox8 UTSW 17 25,789,082 (GRCm39) critical splice donor site probably null
R7232:Sox8 UTSW 17 25,786,514 (GRCm39) missense probably benign 0.01
R7549:Sox8 UTSW 17 25,786,935 (GRCm39) missense probably damaging 0.99
R8262:Sox8 UTSW 17 25,786,617 (GRCm39) missense possibly damaging 0.89
R8862:Sox8 UTSW 17 25,787,045 (GRCm39) missense possibly damaging 0.81
R9015:Sox8 UTSW 17 25,789,135 (GRCm39) missense probably damaging 1.00
R9109:Sox8 UTSW 17 25,787,813 (GRCm39) missense possibly damaging 0.94
R9387:Sox8 UTSW 17 25,786,338 (GRCm39) missense probably damaging 1.00
R9406:Sox8 UTSW 17 25,786,634 (GRCm39) missense probably damaging 1.00
R9646:Sox8 UTSW 17 25,786,871 (GRCm39) missense probably benign 0.00
Z1177:Sox8 UTSW 17 25,787,958 (GRCm39) missense probably damaging 1.00
Z1177:Sox8 UTSW 17 25,786,717 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16