Sfrs18 - SNV Details



 Gene Information 
Gene Name Sfrs18
Old Gene Names for Sfrs18 5730406m06rik , Aa673174
Gene Description serine/arginine-rich splicing factor 18 [Source:MGI Symbol;Acc:MGI:1913875]
Uniprot Name
CCDS Name
Gene GO
nuclear speck; cellular_component; biological_process; molecular_function
Homolog in other species PNISR
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028248
Chromosome 4
Coordinate 21,874,650     (Assembly: GRCm38)    
Ref Base C
Codon Change Cac/Tac
Var Base T
Zygosity Heterozygous
Read Depth 53
Allele Frequency
C:R0.49
T:V0.51
Amino Acid Position 798
Amino Acid Change H->Y (Histidine -> Tyrosine)
Sample ID IGL01467
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown
Sift Score 0.02
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved