Tm2d1 - SNV Details



 Gene Information 
Gene Name Tm2d1
Old Gene Names for Tm2d1 2310026l18rik , Aa990549 , Bbp
Gene Description TM2 domain containing 1 [Source:MGI Symbol;Acc:MGI:2137022]
Uniprot Name
CCDS Name
Gene GO
apoptotic process; beta-amyloid binding; integral to plasma membrane; G-protein coupled receptor activity; G-protein coupled receptor signaling pathway
Homolog in other species TM2D1
Immgen Expression
MEDIAN
Gnf Expression
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028563
Chromosome 4
Coordinate 98,380,674     (Assembly: GRCm38)    
Ref Base G
Codon Change cCa/cAa
Var Base T
Zygosity Heterozygous
Read Depth 98
Allele Frequency
G:R0.61
T:V0.39
Amino Acid Position 61
Amino Acid Change P->Q (Proline -> Glutamine)
Sample ID IGL02411
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved