Oas1d - SNV Details



 Gene Information 
Gene Name Oas1d
Old Gene Names for Oas1d Aa536864 , C85127
Gene Description 2'-5' oligoadenylate synthetase 1D [Source:MGI Symbol;Acc:MGI:2140770]
MGI phenotype Homozygous null females exhibit reduced fertility due to defects in ovarian follicle development and decreased efficiency of ovulation.
Uniprot Name
CCDS Name
Gene GO
ovulation from ovarian follicle; RNA binding; cytoplasm; immune response; ovarian follicle development; enzyme inhibitor activity; transferase activity; negative regulation of transferase activity; double-stranded RNA binding; ATP binding; embryo development
Immgen Expression
LOW
Gnf Expression
LOW/MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032623
Chromosome 5
Coordinate 120,919,064     (Assembly: GRCm38)    
Ref Base C
Codon Change taC/taA
Var Base A
Zygosity Heterozygous
Read Depth 93
Allele Frequency
C:R0.47
A:V0.53
Amino Acid Position 244
Amino Acid Change Y->Stop (Tyrosine -> Stop)
Sample ID IGL01062
Median Base Quality 36
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Protein domains 
ENSMUSP00000048054:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
2'-5'-oligoadenylate synthetase 1, domain 2/C-terminal 2-5-oligoAdlate_synth_1_dom2/C IPR018952 ENSMUSP00000048054 Pfam 168
354 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved