Incidental Mutation 'R5477:Sox7'
ID 434132
Institutional Source Beutler Lab
Gene Symbol Sox7
Ensembl Gene ENSMUSG00000063060
Gene Name SRY (sex determining region Y)-box 7
Synonyms
MMRRC Submission 043038-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5477 (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 G at 64185945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 327 (Y327C)
Ref Sequence ENSEMBL: ENSMUSP00000078597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079652]
AlphaFold P40646
Predicted Effect probably damaging
Transcript: ENSMUST00000079652
AA Change: Y327C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078597
Gene: ENSMUSG00000063060
AA Change: Y327C

DomainStartEndE-ValueType
HMG 44 114 8.74e-27 SMART
Pfam:Sox_C_TAD 171 378 1.4e-58 PFAM
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 90.9%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Aacs T C 5: 125,588,984 (GRCm39) Y421H probably damaging Het
Abca13 A G 11: 9,251,298 (GRCm39) K2890R possibly damaging Het
Aff4 T A 11: 53,299,299 (GRCm39) probably null Het
Brd10 A G 19: 29,731,518 (GRCm39) V498A probably benign Het
Cntn4 A T 6: 106,650,911 (GRCm39) Q698L possibly damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Dmrt1 A G 19: 25,487,164 (GRCm39) M157V probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Gm10521 T A 1: 171,724,067 (GRCm39) M126K unknown Het
Hs2st1 A G 3: 144,262,709 (GRCm39) probably benign Het
Lats2 T C 14: 57,937,010 (GRCm39) D113G probably benign Het
Myo15a A C 11: 60,368,503 (GRCm39) D421A probably damaging Het
Or5k15 T A 16: 58,710,107 (GRCm39) I159F probably benign Het
Or5k17 A T 16: 58,746,393 (GRCm39) D180E possibly damaging Het
Or6z6 T C 7: 6,491,570 (GRCm39) Y94C probably benign Het
Pappa2 T A 1: 158,784,308 (GRCm39) D234V probably benign Het
Parl G T 16: 20,098,824 (GRCm39) T311K possibly damaging Het
Pias3 G A 3: 96,612,319 (GRCm39) R557H probably damaging Het
Pskh1 C T 8: 106,656,511 (GRCm39) R396C probably damaging Het
Rc3h2 T C 2: 37,289,642 (GRCm39) D390G possibly damaging Het
Ryr2 G T 13: 11,720,542 (GRCm39) P2702Q probably damaging Het
Senp6 C A 9: 80,051,125 (GRCm39) A961D probably damaging Het
Slc27a3 A G 3: 90,294,146 (GRCm39) S503P probably benign Het
Slc39a12 T C 2: 14,394,193 (GRCm39) V21A possibly damaging Het
Spdl1 A T 11: 34,713,037 (GRCm39) F288I possibly damaging Het
Ssbp2 T A 13: 91,812,244 (GRCm39) M127K probably damaging Het
Sspo A C 6: 48,475,327 (GRCm39) S5032R possibly damaging Het
Sycp1 A T 3: 102,726,206 (GRCm39) W973R probably damaging Het
Tm4sf5 C T 11: 70,401,174 (GRCm39) T130I probably benign Het
Top2a T A 11: 98,907,306 (GRCm39) K175* probably null Het
Trim30d T A 7: 104,121,347 (GRCm39) Y316F probably damaging Het
Vmn1r124 G A 7: 20,993,653 (GRCm39) P297L probably damaging Het
Zfp715 T C 7: 42,949,378 (GRCm39) Y194C 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
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'- CCCAGGGGTTTCTATGATGTCC -3'
(R):5'- CTCAGTGCTTCATAGGGAGG -3'

Sequencing Primer
(F):5'- ATGATGTCCTCTGTTTCTGGATGTCC -3'
(R):5'- TGGGCCAGGCTCCATTC -3'
Posted On 2016-10-06