|Institutional Source||Beutler Lab|
|Gene Name||cilia and flagella associated protein 57|
|Synonyms||Wdr65, 1110020C03Rik, C130004B06Rik, LOC384050|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6439 (G1)|
|Chromosomal Location||118554551-118620777 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||C to A at 118588975 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000080592 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000071972] [ENSMUST00000081921]|
|Meta Mutation Damage Score||0.9587|
|Coding Region Coverage||
|Validation Efficiency||100% (35/35)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cfap57||
(F):5'- ACTGTAGGAATGGTGGATCAC -3'
(R):5'- CACAGATGCTGCTCACCTTTG -3'
(F):5'- CTGGCACACAGGATGATCATG -3'
(R):5'- TGACGACCAGTTCCTGCTGAC -3'