Incidental Mutation 'IGL00230:Sox4'
ID 306806
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 # IGL00230
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bin1 C T 18: 32,553,160 (GRCm39) A215V probably damaging Het
Cfap91 A G 16: 38,156,704 (GRCm39) probably null Het
Cyp2j6 C T 4: 96,424,283 (GRCm39) R158H possibly damaging Het
Dnaaf2 T C 12: 69,243,540 (GRCm39) D507G probably benign Het
Fam13b T C 18: 34,620,149 (GRCm39) E245G possibly damaging Het
Gal3st1 A T 11: 3,949,070 (GRCm39) probably benign Het
Galnt5 A T 2: 57,888,985 (GRCm39) Q195L probably benign Het
Gfm2 A G 13: 97,291,950 (GRCm39) T229A probably benign Het
Gigyf1 A G 5: 137,521,007 (GRCm39) probably benign Het
Gm4353 G T 7: 115,682,789 (GRCm39) T264K probably damaging Het
Gsk3b A T 16: 38,049,069 (GRCm39) I389F probably benign Het
H2bc14 G T 13: 21,906,545 (GRCm39) R93L possibly damaging Het
Htt A G 5: 34,956,752 (GRCm39) T194A probably benign Het
Ighg3 T C 12: 113,323,457 (GRCm39) Y273C unknown Het
Kdm5b T A 1: 134,548,693 (GRCm39) V1066D probably damaging Het
Kif1a G T 1: 92,982,656 (GRCm39) A707E probably damaging Het
Mars1 A G 10: 127,133,875 (GRCm39) M674T probably benign Het
Mas1 T C 17: 13,060,877 (GRCm39) D182G probably benign Het
Metap1d T A 2: 71,342,506 (GRCm39) D178E probably damaging Het
Nhsl1 T A 10: 18,403,357 (GRCm39) D1329E probably benign Het
Ninl T C 2: 150,808,161 (GRCm39) E289G probably damaging Het
Pmel G T 10: 128,551,958 (GRCm39) G264V possibly damaging Het
Ruvbl1 T C 6: 88,461,385 (GRCm39) probably benign Het
Scn8a T A 15: 100,853,413 (GRCm39) probably benign Het
Septin9 T C 11: 117,245,630 (GRCm39) probably benign Het
Sgpp1 G T 12: 75,762,968 (GRCm39) Y404* probably null Het
Sgsm1 T C 5: 113,392,930 (GRCm39) I788V probably benign Het
Slc13a4 A T 6: 35,266,759 (GRCm39) M112K probably benign Het
Slc22a29 T C 19: 8,195,177 (GRCm39) M153V probably benign Het
Slc9c1 T G 16: 45,393,752 (GRCm39) V565G possibly damaging Het
Tec C T 5: 72,926,111 (GRCm39) A314T probably damaging Het
Tg A G 15: 66,699,139 (GRCm39) I803V probably benign Het
Trav9-1 A T 14: 53,725,850 (GRCm39) I55F probably benign Het
Ttll12 C A 15: 83,462,857 (GRCm39) E536D probably benign Het
Ubqln1 C A 13: 58,325,806 (GRCm39) E152* probably null Het
Wwtr1 G A 3: 57,370,912 (GRCm39) T338I probably benign Het
Zdhhc16 T C 19: 41,928,099 (GRCm39) F206S probably benign Het
Other mutations in Sox4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
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
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