|Institutional Source||Beutler Lab|
|Gene Name||SRY (sex determining region Y)-box 7|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6603 (G1)|
|Chromosomal Location||63943673-63950732 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 63948188 bp|
|Amino Acid Change||Histidine to Glutamine at position 224 (H224Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078597 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079652]|
|Predicted Effect||probably benign
AA Change: H224Q
PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: H224Q
|Coding Region Coverage||
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'- CTCTCTCGTGACCAGAACAC -3'
(R):5'- GCTGATCCAAGGTGTCAAAGC -3'
(F):5'- CTGCCTGAGAAAAACGGCATTG -3'
(R):5'- TGTCAAAGCCAGGGTGCTC -3'