|Institutional Source||Beutler Lab|
|Gene Name||coronin, actin binding protein 1C|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7037 (G1)|
|Chromosomal Location||113842436-113908758 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 113845396 bp|
|Amino Acid Change||Phenylalanine to Serine at position 357 (F357S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004646 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004646] [ENSMUST00000164980]|
|Predicted Effect||possibly damaging
AA Change: F357S
PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: F357S
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9569|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Coro1c||
(F):5'- AGCTGAGCTCGCTCTTCTTG -3'
(R):5'- CCATGTCCCCAGTTCTGAAG -3'
(F):5'- GTTTGCAGCCGGCTTGC -3'
(R):5'- TGAAAACTCAGGTCCCTGTG -3'