|Institutional Source||Beutler Lab|
|Gene Name||SRY (sex determining region Y)-box 30|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5014 (G1)|
|Chromosomal Location||45980310-46017994 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 45991909 bp|
|Amino Acid Change||Serine to Proline at position 589 (S589P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037519 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049038]|
|Predicted Effect||probably benign
AA Change: S589P
PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
AA Change: S589P
|Meta Mutation Damage Score||0.0665|
|Coding Region Coverage||
|Validation Efficiency||97% (83/86)|
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 acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]
PHENOTYPE: Male mice homozygous for a null allele are infertile with arrest of spermiogenesis and azoospermia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sox30||
(F):5'- ATCACACTTTTCCAGCCCAG -3'
(R):5'- TTGACGGGAAGTAATGAGGTCC -3'
(F):5'- CAGCGTCTCCAGCACTG -3'
(R):5'- TCCAGGTAGGAAGTAAGGGTGATG -3'