Prim1 - SNV Details



 Gene Information 
Gene Name Prim1
Old Gene Names for Prim1 Ai324982
Gene Description DNA primase, p49 subunit [Source:MGI Symbol;Acc:MGI:97757]
Uniprot Name
CCDS Name
Gene GO
metal ion binding; alpha DNA polymerase:primase complex; protein binding; DNA primase activity; DNA replication
synthesis of RNA primer
Homolog in other species PRIM1
Omim http://omim.org/entry/176635
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, TGD.VG5+.ACT.IEL, NK.MCMV1.SP, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, T.4SP24-.TH, T.8SP24-.TH, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN EMB GROUP, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025395
Chromosome 10
Coordinate 128,022,889     (Assembly: GRCm38)    
Ref Base A
Codon Change tAc/tGc
Var Base G
Zygosity Heterozygous
Read Depth 12
Allele Frequency
A:R0.42
G:V0.58
Amino Acid Position 222
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL01896
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.04
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000026461:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
DNA primase, small subunit DNA_primase_S IPR002755 ENSMUSP00000026461 Pfam 108
334 Description available Search pathways
DNA primase, small subunit, eukaryotic/archaeal DNA_primase_ssu_euk/arc IPR014052 ENSMUSP00000026461 TIGRfam 14
347 Description available Search pathways

 Availability Details 
Availability Cryopreserved