Incidental Mutation 'IGL01293:Sox4'
ID72968
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 #IGL01293
Quality Score
Status
Chromosome13
Chromosomal Location28948919-28953713 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 28952681 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 114 (R114L)
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: R114L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100013
Gene: ENSMUSG00000076431
AA Change: R114L

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,463,656 V25A probably benign Het
Aagab T C 9: 63,636,469 V235A probably benign Het
Ash1l T C 3: 88,983,529 V905A probably benign Het
Atrx A G X: 105,876,195 S641P probably benign Het
Bnc1 T C 7: 81,974,489 E330G probably damaging Het
Cenpq A T 17: 40,933,176 S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 M1K probably null Het
Cul2 A G 18: 3,419,426 K196E probably damaging Het
Cyp2d10 A T 15: 82,403,009 V471E possibly damaging Het
Efhc2 T A X: 17,207,695 I469L probably benign Het
Fhod3 C T 18: 25,020,652 probably benign Het
Gm1968 A G 16: 29,958,814 noncoding transcript Het
Gm438 G T 4: 144,777,589 H331N probably benign Het
Hpdl T A 4: 116,820,944 T107S possibly damaging Het
Il1rl1 G A 1: 40,446,216 G276D possibly damaging Het
Irgq A G 7: 24,533,724 D330G probably damaging Het
Kdm4b A G 17: 56,353,019 D62G probably benign Het
Lama2 T C 10: 27,231,636 T793A probably benign Het
Lrrk2 T C 15: 91,726,137 F691L probably benign Het
Macf1 C T 4: 123,471,311 G1654E probably benign Het
Mgat4c A T 10: 102,388,225 Y100F probably benign Het
Ncapg A G 5: 45,681,854 N532S probably benign Het
Nfkb1 T C 3: 135,590,839 D782G probably damaging Het
Nthl1 G T 17: 24,638,709 C294F probably damaging Het
Obp2b A G 2: 25,737,707 H45R probably benign Het
Olfm1 A G 2: 28,214,703 E156G probably damaging Het
Olfr113 A G 17: 37,575,417 I2T probably benign Het
Olfr847 C A 9: 19,375,336 A182S probably benign Het
Otud6b A G 4: 14,822,682 probably benign Het
Patl2 T C 2: 122,123,810 T427A probably benign Het
Pdzd8 T A 19: 59,299,786 R1061W probably damaging Het
Plk3 A T 4: 117,132,997 L137* probably null Het
Rps6ka6 T C X: 111,450,362 probably benign Het
Shank1 T C 7: 44,354,236 V1784A possibly damaging Het
Smc1b A T 15: 85,131,898 S14T probably damaging Het
Speg C T 1: 75,388,102 R221W probably damaging Het
Tram1l1 T C 3: 124,322,139 V316A probably benign Het
Virma G T 4: 11,521,114 K840N probably damaging Het
Vmn1r49 A T 6: 90,072,412 S203T probably damaging Het
Wdr1 T C 5: 38,529,543 T293A probably benign Het
Xirp2 C T 2: 67,515,184 P2590S possibly damaging Het
Zfp106 T C 2: 120,535,035 Y297C possibly damaging Het
Zfp128 A G 7: 12,891,424 *573W probably null Het
Zfp575 G A 7: 24,585,757 P153L 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
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
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 On2013-10-07