Ahnak - SNV Details



 Gene Information 
Gene Name Ahnak
Old Gene Names for Ahnak 1110004p15rik , 2310047c17rik , Aa589382 , Av091586
Gene Description AHNAK nucleoprotein (desmoyokin) [Source:MGI Symbol;Acc:MGI:1316648]
MGI phenotype Mice homozygous for one knock-out allele exhibit decreaed T cell proliferation and increased susceptibility to parasitic infection.
Uniprot Name
CCDS Name
Gene GO
cell-cell junction; protein binding
Homolog in other species AHNAK
Omim http://omim.org/entry/103390
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, T.4MEM.SP)
Gnf Expression
MEDIAN/HIGH(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, IMM.G1, IMM.G3, OSTEO GROUP, C2C12, UMBLICALCORD, NIH.3T3, EPITH GROUP, TRACHEA, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
MEDIAN/HIGH(HIGH IN PANCREAS, DORSALSTRIATUM, LIVER, EMBRYODAY6.5, SPLEEN, IMM.G2, THYROID)
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000069833
Chromosome 19
Coordinate 9,008,268     (Assembly: GRCm38)    
Ref Base A
Codon Change ttA/ttT
Var Base T
Zygosity Heterozygous
Read Depth 42
Allele Frequency
A:R0.64
T:V0.36
Amino Acid Position 2305
Amino Acid Change L->F (Leucine -> Phenylalanine)
Sample ID IGL02246
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.85
Polyphen Prediction Possibly damaging
Sift Score 0.05
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved