Alms1 - SNV Details



 Human Rare Diseases 
Alström syndrome

 Gene Information 
Gene Name Alms1
Gene Description Alstrom syndrome 1 homolog (human) [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
centrosome
cytosol
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 85,601,310     (Assembly: GRCm38)    
Ref Base T
Codon Change Tct/Cct
Var Base C
Zygosity Heterozygous
Read Depth 35
Allele Frequency
T:0.60
C:0.40
Amino Acid Position 207
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL00930
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 21 Other Mutations

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

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved