|Institutional Source||Beutler Lab|
|Gene Name||anoctamin 5|
|Is this an essential gene?||Probably non essential (E-score: 0.110)|
|Stock #||R5930 (G1)|
|Chromosomal Location||51511029-51598709 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 51585331 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Leucine at position 671 (F671L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046884 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043944] [ENSMUST00000207044] [ENSMUST00000207717]|
AA Change: F671L
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: F671L
AA Change: F638L
PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: F621L
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|Meta Mutation Damage Score||0.9266|
|Coding Region Coverage||
|Validation Efficiency||94% (102/109)|
FUNCTION: This gene encodes a member of the anoctamin family, which in mammals is comprised of 10 members. Anoctamin proteins are proposed to have eight transmembrane domains with both termini facing the cytoplasm and a C-terminal domain of unknown function. While some members have been characterized as calcium-activated chloride channels, this protein is reported to have little anion conductance activity. Elevated levels of this protein were found in dystrophic mice. In humans, mutations of this gene are associated with with musculoskeletal disorders such as myopathies, muscular dystrophy and gnathodiaphyseal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ano5||
(F):5'- TCTGAGTCTAACACCTTGAAACAC -3'
(R):5'- TGCAACAGAAACGATGGCC -3'
(F):5'- TTGAAACACACACTGCCTCTC -3'
(R):5'- CATTCCAAAAAGAATGTCTTGCCAG -3'