Incidental Mutation 'R5855:Sox4'
ID 454878
Institutional Source Beutler Lab
Gene Symbol Sox4
Ensembl Gene ENSMUSG00000076431
Gene Name SRY (sex determining region Y)-box 4
Synonyms Sox-4
MMRRC Submission 043229-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5855 (G1)
Quality Score 81
Status Not validated
Chromosome 13
Chromosomal Location 29132902-29137682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29136979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 9 (E9G)
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: E9G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100013
Gene: ENSMUSG00000076431
AA Change: E9G

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
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.8%
  • 20x: 89.3%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T G 7: 131,026,328 (GRCm39) L57R probably damaging Het
Bmpr1b G A 3: 141,577,146 (GRCm39) T55M possibly damaging Het
Cep350 G A 1: 155,829,508 (GRCm39) T132I probably benign Het
Cops4 A T 5: 100,695,280 (GRCm39) M400L probably benign Het
Cul1 G A 6: 47,500,147 (GRCm39) D653N probably benign Het
Cyp3a13 C G 5: 137,917,318 (GRCm39) L36F probably damaging Het
Dcaf10 T C 4: 45,342,558 (GRCm39) F131L probably benign Het
Dgkh T C 14: 78,861,944 (GRCm39) probably null Het
Igll1 C T 16: 16,678,921 (GRCm39) V130M probably damaging Het
Kif2c C T 4: 117,039,739 (GRCm39) probably benign Het
Klra7 T C 6: 130,195,921 (GRCm39) D262G possibly damaging Het
Lrrc27 T C 7: 138,798,251 (GRCm39) probably benign Het
Maf A G 8: 116,432,531 (GRCm39) S358P probably benign Het
Map1a A G 2: 121,134,155 (GRCm39) D1419G possibly damaging Het
Map3k1 G A 13: 111,892,513 (GRCm39) A914V probably benign Het
Naa25 T G 5: 121,561,755 (GRCm39) L436R possibly damaging Het
Ndc1 T C 4: 107,240,904 (GRCm39) I294T probably damaging Het
Nek1 A C 8: 61,469,306 (GRCm39) D121A probably damaging Het
Nfil3 C T 13: 53,122,746 (GRCm39) G53R probably benign Het
Or10h28 T C 17: 33,488,310 (GRCm39) V204A possibly damaging Het
Parp14 A T 16: 35,661,297 (GRCm39) Y1550* probably null Het
Patl1 A G 19: 11,898,880 (GRCm39) I192V probably damaging Het
Pax3 G A 1: 78,098,288 (GRCm39) T367I probably damaging Het
Pla2g4a C T 1: 149,755,814 (GRCm39) V208M probably damaging Het
Prdm10 A T 9: 31,248,619 (GRCm39) K347M probably damaging Het
Prkd1 A T 12: 50,439,699 (GRCm39) M376K probably benign Het
Prkg1 C T 19: 30,872,094 (GRCm39) V219I possibly damaging Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Scn3a T C 2: 65,295,074 (GRCm39) I1550V possibly damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Spon1 T A 7: 113,628,307 (GRCm39) D354E probably damaging Het
Stat2 T A 10: 128,119,363 (GRCm39) L450H probably damaging Het
Tek T A 4: 94,741,790 (GRCm39) M849K probably damaging Het
Tmem63c G A 12: 87,122,500 (GRCm39) D433N probably damaging Het
Tnpo3 G A 6: 29,589,032 (GRCm39) T106I probably damaging Het
Tns1 G T 1: 73,957,192 (GRCm39) A1674D possibly damaging Het
Trim8 T C 19: 46,503,849 (GRCm39) V467A possibly damaging Het
Trmo T A 4: 46,382,568 (GRCm39) H183L probably benign Het
Trpm1 C A 7: 63,918,710 (GRCm39) C683* probably null Het
Vsig10 T G 5: 117,476,335 (GRCm39) L263R probably damaging Het
Zfp874a A T 13: 67,590,812 (GRCm39) Y291N 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
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
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
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
Predicted Primers PCR Primer
(F):5'- ACCATAAAGGCGTTCATGGG -3'
(R):5'- ACTCCGGCTACCAACGTTTG -3'

Sequencing Primer
(F):5'- CGTTCATGGGCCGCTTG -3'
(R):5'- AGCACTTCAGCGGTGAGG -3'
Posted On 2017-02-10