|Institutional Source||Beutler Lab|
|Gene Name||SRY (sex determining region Y)-box 18|
|Synonyms||Sry-related HMG-box gene 18, Ragl|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4473 (G1)|
|Chromosomal Location||181669836-181671640 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 181670876 bp|
|Amino Acid Change||Lysine to Arginine at position 154 (K154R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062759 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000054491]|
|Predicted Effect||probably damaging
AA Change: K154R
PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: K154R
|Meta Mutation Damage Score||0.1487|
|Coding Region Coverage||
|Validation Efficiency||100% (36/36)|
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. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for some mutant alleles show low prenatal viability and cardiovascular defects. Most mutants show darkened coats, reduced zigzag hairs and, depending on the allele, sparse abnormal hair and edema. Heterozygotes show similar or milder defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sox18||
(F):5'- CATAGTAGAGACCTGCGAGTGG -3'
(R):5'- TATGCCATGTTTCACGCCG -3'
(F):5'- CATAGGGTGCCCGGAAAGC -3'
(R):5'- CACGACGGTTTGGCTAGTC -3'