Crim1 - SNV Details



 Gene Information 
Gene Name Crim1
Old Gene Names for Crim1 Au015004
Gene Description cysteine rich transmembrane BMP regulator 1 (chordin like) [Source:MGI Symbol;Acc:MGI:1354756]
MGI phenotype Mutations in this locus cause perinatal lethality, syndactyly, and eye and kidney abnormalities.
Uniprot Name
CCDS Name
Gene GO
integral to membrane; enzyme inhibitor activity; serine-type endopeptidase inhibitor activity; insulin-like growth factor binding; protein binding; extracellular region; regulation of cell growth
Homolog in other species CRIM1
Omim http://omim.org/entry/606189
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, T.4MEM.SP)
Gnf Expression
HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, LIVER, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024074
Chromosome 17
Coordinate 78,313,235     (Assembly: GRCm38)    
Ref Base C
Codon Change aCg/aAg
Var Base A
Zygosity Heterozygous
Read Depth 46
Allele Frequency
C:R0.50
A:V0.50
Amino Acid Position 368
Amino Acid Change T->K (Threonine -> Lysine)
Sample ID IGL01769
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved