|Institutional Source||Beutler Lab|
|Gene Name||SRY (sex determining region Y)-box 9|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7897 (G1)|
|Chromosomal Location||112782224-112787760 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 112784809 bp|
|Amino Acid Change||Isoleucine to Leucine at position 275 (I275L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000579 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000579]|
|Predicted Effect||probably benign
AA Change: I275L
PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: I275L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null mutant heterozygotes and conditional knockout mutants display perinatal lethality with cleft palate, hypoplasia and distortion of numerous cartilage-derived skeletal structures, and premature mineralization in many bones. Specific conditional knockout mutations are sex-reversed. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sox9||
(F):5'- TCCTAAGAGTAGGGGCTTTGC -3'
(R):5'- TGCTGCTTCGACATCCACAC -3'
(F):5'- TCTTTTATGGCCTGCAGG -3'
(R):5'- ATGCCGTAACTGCCAGT -3'