Alms1 - SNV Details



 Human Rare Diseases 
Alström syndrome

 Gene Information 
Gene Name Alms1
Gene Description Alstrom syndrome 1 [Source:MGI Symbol;Acc:MGI:1934606]
MGI phenotype Homozygous null mice display obesity starting after puberty, hypogonadism, hyperinsulinemia, male-specific hyperglycemia, retinal dysfunction, and late-onset hearing loss.
Uniprot Name
CCDS Name
Gene GO
inner ear receptor stereocilium organization; cilium; lipid metabolic process; establishment of planar polarity; epithelial cell proliferation; apoptotic process; cytoplasm; regulation of fat cell differentiation; spermatid development; retinal rod cell development; calcium-mediated signaling; microtubule basal body; cholesterol homeostasis; cilium assembly; centriole; fat cell differentiation; sensory perception of sound; negative regulation of multicellular organism growth; spindle pole; ovulation; triglyceride metabolic process; glucose homeostasis; cellular glucose homeostasis; centrosome; developmental growth; molecular_function
Homolog in other species ALMS1
Omim http://omim.org/entry/606844
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
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(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000063810
Chromosome 6
Coordinate 85,677,899     (Assembly: GRCm38)    
Ref Base T
Codon Change aaT/aaA
Var Base A
Zygosity Heterozygous
Read Depth 14
Allele Frequency
T:R0.36
A:V0.64
Amino Acid Position 2673
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL01448
Median Base Quality 39
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved