|Institutional Source||Beutler Lab|
|Gene Name||SRY (sex determining region Y)-box 14|
|Is this an essential gene?||Possibly non essential (E-score: 0.315)|
|Stock #||R3896 (G1)|
|Chromosomal Location||99874106-99876170 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 99875583 bp|
|Amino Acid Change||Histidine to Glutamine at position 34 (H34Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000091310 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000054819]|
|Predicted Effect||probably damaging
AA Change: H34Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: H34Q
AA Change: H24Q
|Meta Mutation Damage Score||0.3722|
|Coding Region Coverage||
|Validation Efficiency||100% (48/48)|
|MGI Phenotype||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. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sox14||
(F):5'- TACCTGTCCTTCTTGAGCAGG -3'
(R):5'- AGGGTCAGCTCTTCTCTCTG -3'
(F):5'- AGCAGGTTCTTCGGCTTGC -3'
(R):5'- TCCGAGACGAGGGGAGTTC -3'