Incidental Mutation 'R7812:Sox7'
ID 601251
Institutional Source Beutler Lab
Gene Symbol Sox7
Ensembl Gene ENSMUSG00000063060
Gene Name SRY (sex determining region Y)-box 7
Synonyms
MMRRC Submission 045867-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7812 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 64181155-64188181 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 64185681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 239 (T239I)
Ref Sequence ENSEMBL: ENSMUSP00000078597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079652]
AlphaFold P40646
Predicted Effect probably benign
Transcript: ENSMUST00000079652
AA Change: T239I

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000078597
Gene: ENSMUSG00000063060
AA Change: T239I

DomainStartEndE-ValueType
HMG 44 114 8.74e-27 SMART
Pfam:Sox_C_TAD 171 378 1.4e-58 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This 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. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most embryos homozygous for a knock-out allele exhibit embryonic growth retardation, abnormal vitelline vascular remodeling and pericardial edema, and die during organogenesis. Depending on the genetic background, a portion of heterozygotes can develop congenital retrosternal diaphragmatic hernias. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,165,141 (GRCm39) C411F probably damaging Het
Abhd17c G T 7: 83,800,624 (GRCm39) Y143* probably null Het
Acad11 T G 9: 103,972,747 (GRCm39) L480R probably benign Het
Acad8 A T 9: 26,890,476 (GRCm39) N277K probably damaging Het
Adcy10 A G 1: 165,342,938 (GRCm39) Y268C probably damaging Het
Adm2 A T 15: 89,208,367 (GRCm39) R102S possibly damaging Het
Ambra1 A T 2: 91,596,911 (GRCm39) M1L probably benign Het
Angpt2 T C 8: 18,742,161 (GRCm39) N465S probably benign Het
Arhgap17 T C 7: 122,879,290 (GRCm39) I820M unknown Het
Atf7ip G A 6: 136,580,415 (GRCm39) R1113Q probably damaging Het
Atp5pb A G 3: 105,851,157 (GRCm39) V180A probably benign Het
Auts2 C T 5: 131,501,284 (GRCm39) R43H Het
Cacna1g A T 11: 94,334,880 (GRCm39) I809N probably benign Het
Cand1 A T 10: 119,053,864 (GRCm39) M158K probably benign Het
Cars1 T A 7: 143,123,784 (GRCm39) I500F probably damaging Het
Ccdc18 T A 5: 108,328,699 (GRCm39) M706K probably benign Het
Ccdc180 G A 4: 45,906,952 (GRCm39) probably null Het
Ces1f A G 8: 93,984,938 (GRCm39) V463A probably benign Het
Cndp1 G T 18: 84,655,994 (GRCm39) D58E probably benign Het
Csnk2b A T 17: 35,339,431 (GRCm39) F21Y probably benign Het
Dgkg C G 16: 22,385,165 (GRCm39) R447T probably damaging Het
Dnajc12 A G 10: 63,242,905 (GRCm39) D141G probably benign Het
Edar A G 10: 58,465,926 (GRCm39) V4A probably benign Het
Elf1 A G 14: 79,802,998 (GRCm39) D117G probably damaging Het
Fam124b T C 1: 80,191,351 (GRCm39) T11A probably damaging Het
Fgl2 C A 5: 21,577,896 (GRCm39) T61K probably benign Het
Furin T C 7: 80,045,722 (GRCm39) N218S possibly damaging Het
Gcn1 T A 5: 115,731,751 (GRCm39) H955Q possibly damaging Het
Gucy2e A G 11: 69,117,069 (GRCm39) I784T probably damaging Het
Ice1 T A 13: 70,751,124 (GRCm39) Q1654L possibly damaging Het
Klhl28 T C 12: 64,990,363 (GRCm39) N526S possibly damaging Het
Ldlrad4 C A 18: 68,239,742 (GRCm39) P54Q probably benign Het
Lsm14a A G 7: 34,088,301 (GRCm39) probably benign Het
Mdga1 A G 17: 30,062,115 (GRCm39) V438A probably benign Het
Mrto4 A G 4: 139,075,278 (GRCm39) V175A possibly damaging Het
Nav2 T G 7: 49,246,921 (GRCm39) S2149A probably benign Het
Nr4a2 A G 2: 57,002,430 (GRCm39) Y8H probably damaging Het
Or10q12 T C 19: 13,746,380 (GRCm39) F225L probably benign Het
Or1j12 T A 2: 36,343,290 (GRCm39) I231N probably benign Het
Or1j18 A T 2: 36,624,737 (GRCm39) M135L probably benign Het
Or52e4 T C 7: 104,705,894 (GRCm39) L147P possibly damaging Het
Oxr1 T A 15: 41,615,138 (GRCm39) M1K probably null Het
Pbx3 T C 2: 34,114,478 (GRCm39) Y152C probably damaging Het
Pcdhb13 T A 18: 37,575,645 (GRCm39) C8S probably benign Het
Polr1c G A 17: 46,557,053 (GRCm39) R77W probably damaging Het
Psg25 A T 7: 18,255,093 (GRCm39) N474K possibly damaging Het
Ralgapa1 T A 12: 55,766,413 (GRCm39) M838L possibly damaging Het
Ranbp2 A G 10: 58,303,224 (GRCm39) T799A probably benign Het
Sbf2 C T 7: 110,049,170 (GRCm39) V265I possibly damaging Het
Scarf2 G A 16: 17,621,692 (GRCm39) G381R probably damaging Het
Shprh A G 10: 11,027,735 (GRCm39) Q114R probably benign Het
Sipa1l2 A C 8: 126,218,334 (GRCm39) D334E probably damaging Het
Slc26a4 T A 12: 31,594,449 (GRCm39) I300F probably damaging Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,659,927 (GRCm39) H129N probably benign Het
Stxbp4 A G 11: 90,485,654 (GRCm39) L231P probably damaging Het
Syngap1 A C 17: 27,160,478 (GRCm39) Y18S probably benign Het
Tenm3 T C 8: 48,729,335 (GRCm39) Y1557C probably benign Het
Trim44 G T 2: 102,230,489 (GRCm39) P181T possibly damaging Het
Trp53i13 A T 11: 77,399,666 (GRCm39) V221D possibly damaging Het
Trpm7 A G 2: 126,641,236 (GRCm39) S1554P probably damaging Het
Vcl A G 14: 21,045,158 (GRCm39) N288D probably benign Het
Vmn2r59 A T 7: 41,695,196 (GRCm39) Y405* probably null Het
Vps35 T C 8: 86,010,818 (GRCm39) D175G probably benign Het
Wdr90 A T 17: 26,071,532 (GRCm39) L949Q probably damaging Het
Wwp1 G A 4: 19,639,991 (GRCm39) T517I probably damaging Het
Zfp462 T G 4: 55,008,509 (GRCm39) F158L probably benign Het
Zfp703 T A 8: 27,469,906 (GRCm39) H523Q probably damaging Het
Other mutations in Sox7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Sox7 APN 14 64,185,636 (GRCm39) missense probably benign 0.00
R0378:Sox7 UTSW 14 64,181,398 (GRCm39) missense probably damaging 0.99
R3147:Sox7 UTSW 14 64,186,083 (GRCm39) missense probably damaging 1.00
R4350:Sox7 UTSW 14 64,185,995 (GRCm39) missense probably benign 0.02
R4899:Sox7 UTSW 14 64,185,927 (GRCm39) missense probably damaging 1.00
R5217:Sox7 UTSW 14 64,185,449 (GRCm39) missense probably damaging 0.97
R5418:Sox7 UTSW 14 64,185,396 (GRCm39) missense probably benign 0.30
R5477:Sox7 UTSW 14 64,185,945 (GRCm39) missense probably damaging 1.00
R6603:Sox7 UTSW 14 64,185,637 (GRCm39) missense probably benign 0.06
R7216:Sox7 UTSW 14 64,185,438 (GRCm39) missense probably benign 0.42
R7312:Sox7 UTSW 14 64,185,291 (GRCm39) missense probably damaging 1.00
R8310:Sox7 UTSW 14 64,181,275 (GRCm39) missense probably benign 0.03
R8716:Sox7 UTSW 14 64,186,037 (GRCm39) missense probably benign 0.00
R9632:Sox7 UTSW 14 64,185,509 (GRCm39) missense probably benign 0.00
R9710:Sox7 UTSW 14 64,185,509 (GRCm39) missense probably benign 0.00
Z1177:Sox7 UTSW 14 64,185,314 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CTCTCTCGTGACCAGAACAC -3'
(R):5'- TCCAAGGTGTCAAAGCCAGG -3'

Sequencing Primer
(F):5'- TGGACTGCACAGCTGCTAC -3'
(R):5'- TGTCAAAGCCAGGGTGCTC -3'
Posted On 2019-11-26