Crtc1 - SNV Details



 Gene Information 
Gene Name Crtc1
Old Gene Names for Crtc1 Ai413414 , R74955 , Mect1
Gene Description CREB regulated transcription coactivator 1 [Source:MGI Symbol;Acc:MGI:2142523]
MGI phenotype Mice homozygous for an inactivating mutation in this gene are hyperphagic, obese and infertile.
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; cytoplasm; protein binding; nucleus; protein homotetramerization; cAMP response element binding protein binding; plasma membrane; positive regulation of CREB transcription factor activity
Homolog in other species CRTC1
Omim http://omim.org/entry/607536
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP AND DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000003575
Chromosome 8
Coordinate 70,387,603     (Assembly: GRCm38)    
Ref Base A
Codon Change cTa/cCa
Var Base G
Zygosity Heterozygous
Read Depth 95
Allele Frequency
A:R0.48
G:V0.52
Amino Acid Position 540
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL01361
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.21
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved