Incidental Mutation 'IGL00310:Sox4'
ID332243
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 #IGL00310
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T G 1: 89,887,670 V573G probably damaging Het
Dpp6 T A 5: 27,723,443 D786E probably damaging Het
Dync2h1 T C 9: 7,155,072 probably benign Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Mettl25 T C 10: 105,826,434 H225R probably benign Het
Mocos C T 18: 24,660,044 T66I possibly damaging Het
Ptprk T A 10: 28,336,510 D221E possibly damaging Het
Slc13a3 A T 2: 165,411,923 F437I probably damaging Het
Slc7a15 T C 12: 8,539,121 Y142C probably damaging 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
IGL00230: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
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 On2015-08-05