Pusl1 - SNV Details



 Gene Information 
Gene Name Pusl1
Old Gene Names for Pusl1 2810021i11rik , Ai853843 , D18346
Gene Description pseudouridylate synthase-like 1 [Source:MGI Symbol;Acc:MGI:3047787]
Uniprot Name
CCDS Name
Gene GO
tRNA processing; RNA binding; RNA modification; pseudouridine synthesis; pseudouridine synthase activity
Homolog in other species PUSL1
Immgen Expression
MEDIAN(LOW IN GN.BM)
Gnf Expression
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000051557
Chromosome 4
Coordinate 155,890,572     (Assembly: GRCm38)    
Ref Base T
Codon Change Act/Gct
Var Base C
Zygosity Heterozygous
Read Depth 23
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Position 191
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02056
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.04
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved