Incidental Mutation 'R2051:Sox4'
ID 226460
Institutional Source Beutler Lab
Gene Symbol Sox4
Ensembl Gene ENSMUSG00000076431
Gene Name SRY (sex determining region Y)-box 4
Synonyms Sox-4
MMRRC Submission 040058-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2051 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 28948919-28953713 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28952781 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 81 (S81P)
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: S81P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100013
Gene: ENSMUSG00000076431
AA Change: S81P

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: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik G A 5: 138,564,185 (GRCm38) T98M probably damaging Het
4932414N04Rik G T 2: 68,711,048 (GRCm38) K10N possibly damaging Het
Aadat T A 8: 60,507,139 (GRCm38) S40T probably benign Het
Abca13 A G 11: 9,328,098 (GRCm38) I3093V probably benign Het
Acacb A T 5: 114,245,890 (GRCm38) Q2160L probably damaging Het
Acp6 G T 3: 97,168,017 (GRCm38) S189I probably benign Het
Actr5 A T 2: 158,632,293 (GRCm38) M339L probably benign Het
Adcy1 A T 11: 7,161,885 (GRCm38) K917* probably null Het
Adgrg5 C T 8: 94,942,067 (GRCm38) R504C probably benign Het
Ago1 T C 4: 126,460,453 (GRCm38) H188R probably benign Het
Akap9 T A 5: 3,975,685 (GRCm38) C23* probably null Het
Ank3 T C 10: 69,898,090 (GRCm38) I728T probably damaging Het
Ankrd50 A G 3: 38,454,493 (GRCm38) S1242P probably benign Het
Arhgap29 G A 3: 121,981,860 (GRCm38) R84H probably benign Het
Arhgef10 A G 8: 14,945,320 (GRCm38) D7G probably null Het
Arid4b A G 13: 14,187,645 (GRCm38) E898G probably damaging Het
Atrnl1 A G 19: 57,691,849 (GRCm38) N727S probably benign Het
Baalc G T 15: 38,933,234 (GRCm38) probably benign Het
Cdc25c G C 18: 34,738,239 (GRCm38) L275V probably damaging Het
Chpf2 G T 5: 24,591,276 (GRCm38) V407L probably benign Het
Chrnb3 C A 8: 27,386,811 (GRCm38) N84K probably damaging Het
Cnot1 A G 8: 95,724,593 (GRCm38) F2171L possibly damaging Het
Csmd3 C T 15: 48,621,993 (GRCm38) probably null Het
Cux1 T A 5: 136,332,658 (GRCm38) Q138L probably damaging Het
Cyp2c65 A G 19: 39,082,231 (GRCm38) N286S probably benign Het
Dclre1b T C 3: 103,809,040 (GRCm38) S17G possibly damaging Het
Dlgap5 A G 14: 47,411,484 (GRCm38) S221P probably benign Het
Dnah1 T G 14: 31,279,123 (GRCm38) T2422P probably damaging Het
Enpp1 A G 10: 24,711,804 (GRCm38) probably null Het
Erbb2 T C 11: 98,420,172 (GRCm38) C53R probably damaging Het
Exoc8 A G 8: 124,895,480 (GRCm38) V716A probably benign Het
Fam193a T A 5: 34,462,150 (GRCm38) D766E probably benign Het
Fbxo43 C A 15: 36,162,132 (GRCm38) G310W probably damaging Het
Fcgbp C T 7: 28,120,360 (GRCm38) T2504I probably damaging Het
Fnbp4 C T 2: 90,757,532 (GRCm38) P418L probably benign Het
Gjd2 T C 2: 114,011,058 (GRCm38) T313A probably damaging Het
Gm12695 T A 4: 96,769,771 (GRCm38) R54W probably damaging Het
Gm128 T C 3: 95,240,740 (GRCm38) D81G possibly damaging Het
Gm21834 A G 17: 57,741,768 (GRCm38) V151A possibly damaging Het
Grhl1 T A 12: 24,586,152 (GRCm38) probably null Het
Hcn1 C T 13: 117,976,083 (GRCm38) T861I probably damaging Het
Herc6 C A 6: 57,625,976 (GRCm38) Q547K probably benign Het
Iqgap3 T C 3: 88,120,167 (GRCm38) L699P probably damaging Het
Kank4 T C 4: 98,780,102 (GRCm38) D36G probably damaging Het
Kcnk5 A T 14: 20,142,209 (GRCm38) S295T probably damaging Het
Krt18 T C 15: 102,029,500 (GRCm38) V144A probably benign Het
Krtap9-5 A G 11: 99,949,204 (GRCm38) I244V unknown Het
Leng1 T G 7: 3,665,401 (GRCm38) N16T probably damaging Het
Lss A G 10: 76,531,878 (GRCm38) K15E possibly damaging Het
Mastl G T 2: 23,132,824 (GRCm38) A629E possibly damaging Het
Mavs G C 2: 131,240,450 (GRCm38) A85P possibly damaging Het
Nav3 T C 10: 109,824,675 (GRCm38) D678G probably damaging Het
Nsd3 T G 8: 25,691,089 (GRCm38) S906A probably damaging Het
Nsfl1c A G 2: 151,503,082 (GRCm38) N118S probably damaging Het
Nup205 T A 6: 35,230,516 (GRCm38) M1501K probably benign Het
Olfr1178 C T 2: 88,391,538 (GRCm38) T97M possibly damaging Het
Olfr429 T A 1: 174,089,219 (GRCm38) Y60N possibly damaging Het
Pax8 A G 2: 24,436,508 (GRCm38) S281P probably benign Het
Pds5b T G 5: 150,748,190 (GRCm38) I433R probably damaging Het
Peg3 T C 7: 6,712,721 (GRCm38) N117D probably damaging Het
Pfkm A T 15: 98,131,692 (GRCm38) D728V probably benign Het
Phkb T C 8: 86,049,821 (GRCm38) probably null Het
Pkp4 T C 2: 59,334,904 (GRCm38) V704A probably benign Het
Ppfia2 T A 10: 106,837,299 (GRCm38) S501T probably damaging Het
Ptpru T C 4: 131,819,087 (GRCm38) E284G possibly damaging Het
Ror1 C T 4: 100,407,868 (GRCm38) R180* probably null Het
Ryr3 T A 2: 112,756,641 (GRCm38) Y2666F probably damaging Het
Sec23a C A 12: 58,990,968 (GRCm38) probably null Het
Sertad3 C T 7: 27,476,269 (GRCm38) Q43* probably null Het
Setd2 C T 9: 110,550,890 (GRCm38) H1258Y probably benign Het
Sharpin A G 15: 76,348,207 (GRCm38) S177P probably benign Het
Skap1 T C 11: 96,541,463 (GRCm38) F86S possibly damaging Het
Slc8a2 T C 7: 16,141,015 (GRCm38) I396T probably damaging Het
Slc9a2 T C 1: 40,726,437 (GRCm38) F329S probably damaging Het
Slx4ip C T 2: 137,066,205 (GRCm38) L161F possibly damaging Het
Ssc4d G T 5: 135,970,264 (GRCm38) S28R probably benign Het
St8sia2 C T 7: 73,943,202 (GRCm38) G369S possibly damaging Het
Swt1 T C 1: 151,372,330 (GRCm38) Y836C probably damaging Het
Taar7d A G 10: 24,028,006 (GRCm38) D262G probably benign Het
Taar8b T A 10: 24,091,314 (GRCm38) L327F probably benign Het
Tars A T 15: 11,393,194 (GRCm38) L138* probably null Het
Tbcd A T 11: 121,453,670 (GRCm38) D75V probably damaging Het
Tesc A G 5: 118,046,329 (GRCm38) I25V probably damaging Het
Tmem132e G T 11: 82,440,438 (GRCm38) S407I probably damaging Het
Tmem50b C A 16: 91,580,292 (GRCm38) A95S possibly damaging Het
Tnr T C 1: 159,892,033 (GRCm38) I960T probably benign Het
Tns2 C T 15: 102,108,934 (GRCm38) R281C probably damaging Het
Tpcn1 G C 5: 120,543,388 (GRCm38) P532A probably damaging Het
Tpsb2 T C 17: 25,366,565 (GRCm38) probably benign Het
Triobp C A 15: 79,004,540 (GRCm38) H1948Q probably damaging Het
Tshb T C 3: 102,777,541 (GRCm38) I116V probably benign Het
Ttc13 A T 8: 124,672,211 (GRCm38) probably null Het
Usp34 A T 11: 23,464,468 (GRCm38) T2804S probably damaging Het
Vmn2r18 A T 5: 151,562,551 (GRCm38) C493S possibly damaging Het
Vmn2r2 T C 3: 64,117,345 (GRCm38) K605R possibly damaging Het
Vmn2r37 T C 7: 9,217,793 (GRCm38) Y357C probably damaging Het
Zc3h6 T G 2: 129,015,618 (GRCm38) S686A possibly damaging Het
Zfp608 G A 18: 54,988,314 (GRCm38) P67L probably benign Het
Zyg11a T C 4: 108,192,047 (GRCm38) probably benign Het
Other mutations in Sox4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Sox4 APN 13 28,952,973 (GRCm38) missense probably damaging 1.00
IGL00164:Sox4 APN 13 28,952,973 (GRCm38) missense probably damaging 1.00
IGL00229:Sox4 APN 13 28,952,973 (GRCm38) missense probably damaging 1.00
IGL00230:Sox4 APN 13 28,952,973 (GRCm38) missense probably damaging 1.00
IGL00231:Sox4 APN 13 28,952,973 (GRCm38) missense probably damaging 1.00
IGL00232:Sox4 APN 13 28,952,973 (GRCm38) missense probably damaging 1.00
IGL00310:Sox4 APN 13 28,952,973 (GRCm38) missense probably damaging 1.00
IGL00333:Sox4 APN 13 28,952,973 (GRCm38) missense probably damaging 1.00
IGL00335:Sox4 APN 13 28,952,973 (GRCm38) missense probably damaging 1.00
IGL01293:Sox4 APN 13 28,952,681 (GRCm38) missense probably damaging 1.00
IGL01761:Sox4 APN 13 28,952,807 (GRCm38) missense possibly damaging 0.68
R0594:Sox4 UTSW 13 28,952,904 (GRCm38) missense probably damaging 1.00
R1896:Sox4 UTSW 13 28,952,144 (GRCm38) missense probably damaging 1.00
R1969:Sox4 UTSW 13 28,952,648 (GRCm38) missense probably damaging 1.00
R2235:Sox4 UTSW 13 28,952,630 (GRCm38) missense probably damaging 1.00
R5855:Sox4 UTSW 13 28,952,996 (GRCm38) missense probably damaging 1.00
R7177:Sox4 UTSW 13 28,953,017 (GRCm38) missense probably damaging 1.00
R8811:Sox4 UTSW 13 28,952,928 (GRCm38) missense probably damaging 0.99
R9557:Sox4 UTSW 13 28,952,930 (GRCm38) missense probably damaging 0.99
R9614:Sox4 UTSW 13 28,952,096 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-09-17