|Institutional Source||Beutler Lab|
|Gene Name||family with sequence similarity 20, member C|
|Is this an essential gene?||Possibly non essential (E-score: 0.375)|
|Stock #||R3418 (G1)|
|Chromosomal Location||138754514-138810077 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 138757868 bp|
|Amino Acid Change||Asparagine to Tyrosine at position 220 (N220Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026972 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026972] [ENSMUST00000160645]|
|Predicted Effect||probably damaging
AA Change: N220Y
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: N220Y
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2778|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice with global conditional deletion of this gene display infertility, dwarfism, delayed bone ossification, reduced bone mineralization, fragile skeletons, hypophosphatemic rickets, and impaired osteoblast differentiation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fam20c||
(F):5'- GCGAACCTGTACTTTGAACTC -3'
(R):5'- AAAGTGTGGCTCCCTGCATAG -3'
(F):5'- TTTGAACTCAAAGTCCCAAGCC -3'
(R):5'- GGAGGCTAACTTCACACAGTCCTG -3'