9430023L20Rik - SNV Details



 Gene Information 
Gene Name 9430023l20rik
Old Gene Names for 9430023L20Rik Aa407441 , Au022967
Gene Description RIKEN cDNA 9430023L20 gene [Source:MGI Symbol;Acc:MGI:1915368]
Uniprot Name
CCDS Name
Gene GO
autophagic vacuole assembly; protein binding; pre-autophagosomal structure; cellular_component; protein complex binding; identical protein binding; biological_process; molecular_function
Homolog in other species C12ORF44
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037204
Chromosome 15
Coordinate 101,290,337     (Assembly: GRCm38)    
Ref Base T
Codon Change Tct/Cct
Var Base C
Zygosity Heterozygous
Read Depth 17
Allele Frequency
T:R0.59
C:V0.41
Amino Acid Position 108
Amino Acid Change S->P (Serine -> Proline)
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 0.97
Polyphen Prediction Probably damaging
Sift Score 0.32
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000045474:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Autophagy-related protein 1010 ATG101 IPR012445 ENSMUSP00000045474 Pfam 8
173 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved