|Institutional Source||Beutler Lab|
|Gene Name||SRY (sex determining region Y)-box 7|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5418 (G1)|
|Chromosomal Location||63943673-63950732 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 63947947 bp|
|Amino Acid Change||Threonine to Methionine at position 144 (T144M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078597 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079652]|
|Predicted Effect||probably benign
AA Change: T144M
PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
AA Change: T144M
|Meta Mutation Damage Score||0.1372|
|Coding Region Coverage||
|Validation Efficiency||99% (81/82)|
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||
|Other mutations in Sox7||
(F):5'- GACACTGTCCCAGAAGAGAC -3'
(R):5'- CATGCTCCTCCTGACATGAG -3'
(F):5'- TGTCCCAGAAGAGACCCTATGTG -3'
(R):5'- AGAAGAAGGTCTGCTCTGGCTC -3'