|Institutional Source||Beutler Lab|
|Gene Name||SRY (sex determining region Y)-box 11|
|Synonyms||6230403H02Rik, 1110038H03Rik, end1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6933 (G1)|
|Chromosomal Location||27334264-27342574 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 27341494 bp|
|Amino Acid Change||Serine to Arginine at position 305 (S305R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078070 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079063]|
|Predicted Effect||probably damaging
AA Change: S305R
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: S305R
|Meta Mutation Damage Score||0.0824|
|Coding Region Coverage||
|Validation Efficiency||93% (41/44)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless 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 function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality with impaired ossification and impaired development of the heart, lung, spleen, stomach, skeleton and pancreas. Mice homozygous for a different knock-out allele exhibit abnormal nervous system development and complete neonatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sox11||
(F):5'- TAGTCGGGGAACTCGAAGTG -3'
(R):5'- TTATCCCGACTACAAGTACCGG -3'
(F):5'- CGGGGAACTCGAAGTGGGAAC -3'
(R):5'- TCTTCCTGGACGACGACGATG -3'