Incidental Mutation 'R3147:Sox7'
ID 264298
Institutional Source Beutler Lab
Gene Symbol Sox7
Ensembl Gene ENSMUSG00000063060
Gene Name SRY (sex determining region Y)-box 7
Synonyms
MMRRC Submission 040599-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3147 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 64181155-64188181 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64186083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 373 (Y373F)
Ref Sequence ENSEMBL: ENSMUSP00000078597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079652]
AlphaFold P40646
Predicted Effect probably damaging
Transcript: ENSMUST00000079652
AA Change: Y373F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078597
Gene: ENSMUSG00000063060
AA Change: Y373F

DomainStartEndE-ValueType
HMG 44 114 8.74e-27 SMART
Pfam:Sox_C_TAD 171 378 1.4e-58 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T C X: 66,964,984 (GRCm39) D12G probably benign Het
Alg2 A T 4: 47,472,259 (GRCm39) V183D probably damaging Het
Amy1 T C 3: 113,363,697 (GRCm39) probably benign Het
Asb15 G T 6: 24,566,258 (GRCm39) A404S probably damaging Het
Atf2 T C 2: 73,681,283 (GRCm39) probably null Het
Atosa A G 9: 74,916,120 (GRCm39) I240V probably benign Het
Baalc A T 15: 38,812,568 (GRCm39) E106V possibly damaging Het
Catsperd G T 17: 56,971,039 (GRCm39) C701F possibly damaging Het
Cc2d2a T A 5: 43,866,497 (GRCm39) I769N probably damaging Het
Ccdc158 T C 5: 92,805,822 (GRCm39) N311S probably damaging Het
Dbx1 C A 7: 49,286,297 (GRCm39) R56L probably damaging Het
Eif4enif1 T A 11: 3,194,003 (GRCm39) probably null Het
Elmod3 T G 6: 72,563,485 (GRCm39) T48P probably benign Het
Erbb2 T C 11: 98,324,865 (GRCm39) S820P probably damaging Het
Gimap8 T C 6: 48,627,440 (GRCm39) V138A probably damaging Het
H1f5 T C 13: 21,964,285 (GRCm39) probably benign Het
Il6ra G T 3: 89,793,235 (GRCm39) P305Q probably benign Het
Kcng3 A G 17: 83,895,749 (GRCm39) V239A possibly damaging Het
Kcnrg T C 14: 61,845,140 (GRCm39) F60S probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama1 A G 17: 68,044,653 (GRCm39) D184G probably damaging Het
Lhcgr A T 17: 89,065,771 (GRCm39) L206Q probably damaging Het
Lhx3 T C 2: 26,091,277 (GRCm39) D344G probably benign Het
Marf1 A G 16: 13,943,843 (GRCm39) V1380A possibly damaging Het
Mtcl2 T G 2: 156,862,284 (GRCm39) K1548N possibly damaging Het
Mtfr1 T C 3: 19,271,374 (GRCm39) V182A probably benign Het
Or14a259 A G 7: 86,013,092 (GRCm39) L151S probably benign Het
Or5p64 C T 7: 107,854,883 (GRCm39) G154D possibly damaging Het
Rsf1 CG CGACGGAGGAG 7: 97,229,115 (GRCm39) probably benign Het
Snx4 A C 16: 33,108,094 (GRCm39) D296A probably benign Het
Tuba1b T C 15: 98,830,386 (GRCm39) T145A probably benign Het
Usp32 T A 11: 84,919,913 (GRCm39) N718I probably damaging Het
Wapl G A 14: 34,447,106 (GRCm39) V648M probably damaging Het
Zfp85 C T 13: 67,900,612 (GRCm39) V10M probably damaging Het
Zgrf1 A G 3: 127,377,797 (GRCm39) N1014S possibly 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
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
R7812:Sox7 UTSW 14 64,185,681 (GRCm39) missense probably benign 0.09
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'- AGGTGGAACTTCTGGGAGAC -3'
(R):5'- TCCTTGATGAAGCCGACAAAAC -3'

Sequencing Primer
(F):5'- ACTTCTGGGAGACATGGATCGC -3'
(R):5'- GCCGACAAAACACATTTAAAGGG -3'
Posted On 2015-02-05