Incidental Mutation 'IGL00230:Sox4'
ID306806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox4
Ensembl Gene ENSMUSG00000076431
Gene NameSRY (sex determining region Y)-box 4
SynonymsSox-4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00230
Quality Score
Status
Chromosome13
Chromosomal Location28948919-28953713 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 28952973 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 17 (G17W)
Ref Sequence ENSEMBL: ENSMUSP00000100013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067230]
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: 32,420,107 A215V probably damaging Het
Cyp2j6 C T 4: 96,536,046 R158H possibly damaging Het
Dnaaf2 T C 12: 69,196,766 D507G probably benign Het
Fam13b T C 18: 34,487,096 E245G possibly damaging Het
Gal3st1 A T 11: 3,999,070 probably benign Het
Galnt5 A T 2: 57,998,973 Q195L probably benign Het
Gfm2 A G 13: 97,155,442 T229A probably benign Het
Gigyf1 A G 5: 137,522,745 probably benign Het
Gm4353 G T 7: 116,083,554 T264K probably damaging Het
Gsk3b A T 16: 38,228,707 I389F probably benign Het
Hist1h2bm G T 13: 21,722,375 R93L possibly damaging Het
Htt A G 5: 34,799,408 T194A probably benign Het
Ighg3 T C 12: 113,359,837 Y273C unknown Het
Kdm5b T A 1: 134,620,955 V1066D probably damaging Het
Kif1a G T 1: 93,054,934 A707E probably damaging Het
Maats1 A G 16: 38,336,342 probably null Het
Mars A G 10: 127,298,006 M674T probably benign Het
Mas1 T C 17: 12,841,990 D182G probably benign Het
Metap1d T A 2: 71,512,162 D178E probably damaging Het
Nhsl1 T A 10: 18,527,609 D1329E probably benign Het
Ninl T C 2: 150,966,241 E289G probably damaging Het
Pmel G T 10: 128,716,089 G264V possibly damaging Het
Ruvbl1 T C 6: 88,484,403 probably benign Het
Scn8a T A 15: 100,955,532 probably benign Het
Sept9 T C 11: 117,354,804 probably benign Het
Sgpp1 G T 12: 75,716,194 Y404* probably null Het
Sgsm1 T C 5: 113,245,064 I788V probably benign Het
Slc13a4 A T 6: 35,289,824 M112K probably benign Het
Slc22a29 T C 19: 8,217,813 M153V probably benign Het
Slc9c1 T G 16: 45,573,389 V565G possibly damaging Het
Tec C T 5: 72,768,768 A314T probably damaging Het
Tg A G 15: 66,827,290 I803V probably benign Het
Trav9-1 A T 14: 53,488,393 I55F probably benign Het
Ttll12 C A 15: 83,578,656 E536D probably benign Het
Ubqln1 C A 13: 58,177,992 E152* probably null Het
Wwtr1 G A 3: 57,463,491 T338I probably benign Het
Zdhhc16 T C 19: 41,939,660 F206S probably benign Het
Other mutations in Sox4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Sox4 APN 13 28952973 missense probably damaging 1.00
IGL00164:Sox4 APN 13 28952973 missense probably damaging 1.00
IGL00229:Sox4 APN 13 28952973 missense probably damaging 1.00
IGL00231:Sox4 APN 13 28952973 missense probably damaging 1.00
IGL00232:Sox4 APN 13 28952973 missense probably damaging 1.00
IGL00310:Sox4 APN 13 28952973 missense probably damaging 1.00
IGL00333:Sox4 APN 13 28952973 missense probably damaging 1.00
IGL00335:Sox4 APN 13 28952973 missense probably damaging 1.00
IGL01293:Sox4 APN 13 28952681 missense probably damaging 1.00
IGL01761:Sox4 APN 13 28952807 missense possibly damaging 0.68
R0594:Sox4 UTSW 13 28952904 missense probably damaging 1.00
R1896:Sox4 UTSW 13 28952144 missense probably damaging 1.00
R1969:Sox4 UTSW 13 28952648 missense probably damaging 1.00
R2051:Sox4 UTSW 13 28952781 missense probably damaging 1.00
R2235:Sox4 UTSW 13 28952630 missense probably damaging 1.00
R5855:Sox4 UTSW 13 28952996 missense probably damaging 1.00
R7177:Sox4 UTSW 13 28953017 missense probably damaging 1.00
Posted On2015-04-16