Incidental Mutation 'IGL00158:Sox4'
ID 306560
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox4
Ensembl Gene ENSMUSG00000076431
Gene Name SRY (sex determining region Y)-box 4
Synonyms Sox-4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00158
Quality Score
Status
Chromosome 13
Chromosomal Location 29132902-29137682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 29136956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 17 (G17W)
Ref Sequence ENSEMBL: ENSMUSP00000100013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067230]
AlphaFold Q06831
PDB Structure Structure of the Sox4 HMG domain bound to DNA [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000067230
AA Change: G17W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100013
Gene: ENSMUSG00000076431
AA Change: G17W

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
HMG 58 128 3.66e-29 SMART
low complexity region 132 150 N/A INTRINSIC
low complexity region 157 183 N/A INTRINSIC
low complexity region 233 253 N/A INTRINSIC
internal_repeat_1 268 285 7.33e-5 PROSPERO
internal_repeat_1 278 295 7.33e-5 PROSPERO
low complexity region 304 324 N/A INTRINSIC
low complexity region 330 363 N/A INTRINSIC
low complexity region 364 374 N/A INTRINSIC
low complexity region 377 400 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180992
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless 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 regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants die at embryonic day 14 due to circulatory failure and showing impaired development of the semilunar valves and the muscular ventricular septum. Null fetal liver cells are unable to develop into B-cells in chimeric mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 T A 18: 10,647,869 (GRCm39) D300V possibly damaging Het
Agap1 A G 1: 89,591,518 (GRCm39) probably benign Het
Best3 A G 10: 116,840,446 (GRCm39) probably benign Het
Cfap43 T G 19: 47,818,914 (GRCm39) I125L probably benign Het
Cntn1 A G 15: 92,148,758 (GRCm39) E335G possibly damaging Het
Csmd3 A T 15: 48,150,891 (GRCm39) S396T possibly damaging Het
Cxxc5 T G 18: 35,993,745 (GRCm39) *318G probably null Het
Dpep3 T C 8: 106,705,779 (GRCm39) T49A probably benign Het
Elf1 T A 14: 79,817,789 (GRCm39) M436K possibly damaging Het
Ephx2 T G 14: 66,330,286 (GRCm39) I310L probably benign Het
Fancm A G 12: 65,122,510 (GRCm39) T11A possibly damaging Het
Ganab G T 19: 8,879,959 (GRCm39) A73S probably benign Het
Glp1r T G 17: 31,120,891 (GRCm39) L14R possibly damaging Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Krtap9-1 C T 11: 99,764,680 (GRCm39) P139S unknown Het
L2hgdh T C 12: 69,748,208 (GRCm39) D306G possibly damaging Het
Liat1 T C 11: 75,894,192 (GRCm39) S190P probably benign Het
Lrriq4 A G 3: 30,705,104 (GRCm39) probably null Het
Mbd3 T G 10: 80,229,717 (GRCm39) probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mug1 T C 6: 121,842,768 (GRCm39) S585P probably damaging Het
Nat8f4 C A 6: 85,877,969 (GRCm39) A185S probably benign Het
Nlrc5 C T 8: 95,228,839 (GRCm39) probably benign Het
Or8b12 T A 9: 37,657,685 (GRCm39) I85N possibly damaging Het
Or8g23 T A 9: 38,971,159 (GRCm39) M268L probably benign Het
Peg3 T A 7: 6,713,273 (GRCm39) I650F probably benign Het
Prom1 A T 5: 44,213,279 (GRCm39) N142K probably damaging Het
Qser1 T A 2: 104,596,401 (GRCm39) D1537V probably damaging Het
Rbm44 T A 1: 91,084,831 (GRCm39) D684E probably benign Het
Rnf19a A C 15: 36,265,948 (GRCm39) S50A probably damaging Het
Rnf31 A G 14: 55,829,776 (GRCm39) probably null Het
Rspry1 A G 8: 95,349,614 (GRCm39) M1V probably null Het
Rspry1 A T 8: 95,349,608 (GRCm39) probably benign Het
Sap130 C A 18: 31,831,819 (GRCm39) P769T probably benign Het
Slc22a16 T A 10: 40,471,278 (GRCm39) M483K probably damaging Het
Slc27a1 T C 8: 72,037,416 (GRCm39) probably null Het
Slc35a5 A T 16: 44,972,971 (GRCm39) C65* probably null Het
Ubqlnl T C 7: 103,798,372 (GRCm39) E375G probably benign Het
Uggt2 G A 14: 119,286,688 (GRCm39) T692I possibly damaging Het
Vmn1r211 A T 13: 23,036,272 (GRCm39) C132S probably benign Het
Vmn2r61 A T 7: 41,950,175 (GRCm39) N865I possibly damaging Het
Vmn2r73 A T 7: 85,506,795 (GRCm39) M839K Het
Xrn2 T A 2: 146,878,670 (GRCm39) S455R probably benign Het
Zan T A 5: 137,452,519 (GRCm39) T1521S unknown Het
Zfp326 A G 5: 106,054,911 (GRCm39) M361V possibly damaging Het
Zfp472 A G 17: 33,196,498 (GRCm39) Y191C possibly damaging Het
Other mutations in Sox4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00229:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00230:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00231:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00232:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00310:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00333:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00335:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL01293:Sox4 APN 13 29,136,664 (GRCm39) missense probably damaging 1.00
IGL01761:Sox4 APN 13 29,136,790 (GRCm39) missense possibly damaging 0.68
R0594:Sox4 UTSW 13 29,136,887 (GRCm39) missense probably damaging 1.00
R1896:Sox4 UTSW 13 29,136,127 (GRCm39) missense probably damaging 1.00
R1969:Sox4 UTSW 13 29,136,631 (GRCm39) missense probably damaging 1.00
R2051:Sox4 UTSW 13 29,136,764 (GRCm39) missense probably damaging 1.00
R2235:Sox4 UTSW 13 29,136,613 (GRCm39) missense probably damaging 1.00
R5855:Sox4 UTSW 13 29,136,979 (GRCm39) missense probably damaging 1.00
R7177:Sox4 UTSW 13 29,137,000 (GRCm39) missense probably damaging 1.00
R8811:Sox4 UTSW 13 29,136,911 (GRCm39) missense probably damaging 0.99
R9557:Sox4 UTSW 13 29,136,913 (GRCm39) missense probably damaging 0.99
R9614:Sox4 UTSW 13 29,136,079 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16