Incidental Mutation 'IGL01293:Sox4'
ID 72968
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 # IGL01293
Quality Score
Status
Chromosome 13
Chromosomal Location 29132902-29137682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 29136664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 114 (R114L)
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: 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: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging 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
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
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 2013-10-07