|Institutional Source||Beutler Lab|
|Gene Name||ALMS1, centrosome and basal body associated|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6637 (G1)|
|Chromosomal Location||85587531-85702753 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 85619734 bp|
|Amino Acid Change||Histidine to Arginine at position 514 (H514R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000071904 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000072018] [ENSMUST00000213058]|
|Predicted Effect||possibly damaging
AA Change: H514R
PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: H514R
|Predicted Effect||probably benign
AA Change: H983R
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|Coding Region Coverage||
|Validation Efficiency||100% (34/34)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous null mice display obesity starting after puberty, hypogonadism, hyperinsulinemia, male-specific hyperglycemia, retinal dysfunction, and late-onset hearing loss. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Alms1||
(F):5'- ATTCGGAAAGTGTCACCTGC -3'
(R):5'- CTAGAGGACGCTGTTAGAATGTC -3'
(F):5'- GAAAGTGTCACCTGCTCTTAGGAC -3'
(R):5'- AGCCTTCTTGTGAGCAGATCCAG -3'