Incidental Mutation 'IGL01800:Ano5'
ID 155505
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ano5
Ensembl Gene ENSMUSG00000055489
Gene Name anoctamin 5
Synonyms Tmem16e, Gdd1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL01800
Quality Score
Status
Chromosome 7
Chromosomal Location 51160777-51248457 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 51222823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043944] [ENSMUST00000207044] [ENSMUST00000207717]
AlphaFold Q75UR0
Predicted Effect probably null
Transcript: ENSMUST00000043944
SMART Domains Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489

DomainStartEndE-ValueType
low complexity region 42 55 N/A INTRINSIC
Pfam:Anoct_dimer 64 280 7.7e-70 PFAM
Pfam:Anoctamin 283 860 6.5e-138 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000207044
Predicted Effect probably null
Transcript: ENSMUST00000207717
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,772,734 (GRCm39) Y48C possibly damaging Het
Acsm3 T C 7: 119,373,866 (GRCm39) S251P possibly damaging Het
Ccdc65 C T 15: 98,606,946 (GRCm39) A51V probably benign Het
Cspg5 A G 9: 110,080,218 (GRCm39) probably benign Het
Dhx30 A G 9: 109,914,581 (GRCm39) V935A possibly damaging Het
Disp3 T A 4: 148,334,258 (GRCm39) K1012* probably null Het
Dock2 T C 11: 34,647,100 (GRCm39) N18S probably damaging Het
Dst A T 1: 34,301,173 (GRCm39) I1180F probably damaging Het
Elp2 A G 18: 24,750,548 (GRCm39) Y295C probably benign Het
Eml2 A G 7: 18,935,122 (GRCm39) probably benign Het
Fat4 A G 3: 39,035,878 (GRCm39) T3177A probably damaging Het
Flrt2 A T 12: 95,746,462 (GRCm39) I267F probably damaging Het
Gm5611 T G 9: 16,941,767 (GRCm39) noncoding transcript Het
Gstcd A G 3: 132,790,335 (GRCm39) probably null Het
Gucy1b2 T C 14: 62,649,104 (GRCm39) M476V probably benign Het
Jak2 A G 19: 29,263,693 (GRCm39) probably benign Het
Kcnt1 T C 2: 25,778,137 (GRCm39) F85S probably damaging Het
Kcnu1 G A 8: 26,427,528 (GRCm39) V282M probably damaging Het
Lancl1 T G 1: 67,060,029 (GRCm39) E132A probably benign Het
Or4g7 T C 2: 111,309,209 (GRCm39) F27L probably benign Het
Or5b106 A G 19: 13,123,993 (GRCm39) F10S probably damaging Het
Pigm G A 1: 172,204,770 (GRCm39) A169T probably damaging Het
Ppargc1a A G 5: 51,652,063 (GRCm39) Y212H probably damaging Het
Ppp1r13l A T 7: 19,111,936 (GRCm39) probably benign Het
Pramel12 T C 4: 143,145,650 (GRCm39) L373P probably damaging Het
Rictor T C 15: 6,804,182 (GRCm39) I554T probably damaging Het
Sbno1 G A 5: 124,519,568 (GRCm39) probably benign Het
Sesn2 G T 4: 132,226,418 (GRCm39) L194I probably damaging Het
Slc26a2 A T 18: 61,334,801 (GRCm39) Y217* probably null Het
Sptbn5 G T 2: 119,886,908 (GRCm39) probably benign Het
Tmem184a A T 5: 139,798,899 (GRCm39) S17T possibly damaging Het
Trhr T C 15: 44,092,603 (GRCm39) M280T possibly damaging Het
Ube2j1 A T 4: 33,045,115 (GRCm39) E129D probably benign Het
Ube4b A T 4: 149,415,951 (GRCm39) S3T probably damaging Het
Vmn2r49 A T 7: 9,710,601 (GRCm39) C710* probably null Het
Vmn2r82 C T 10: 79,192,581 (GRCm39) R53C probably benign Het
Zdhhc2 T C 8: 40,917,284 (GRCm39) L227P probably damaging Het
Zfp995 A C 17: 22,099,972 (GRCm39) H87Q possibly damaging Het
Other mutations in Ano5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00653:Ano5 APN 7 51,216,261 (GRCm39) missense probably damaging 0.96
IGL01328:Ano5 APN 7 51,206,019 (GRCm39) critical splice donor site probably null
IGL01888:Ano5 APN 7 51,216,048 (GRCm39) missense probably benign 0.06
IGL02221:Ano5 APN 7 51,220,071 (GRCm39) missense probably damaging 1.00
IGL02538:Ano5 APN 7 51,233,523 (GRCm39) missense probably damaging 1.00
IGL03027:Ano5 APN 7 51,216,025 (GRCm39) missense probably damaging 0.99
IGL03133:Ano5 APN 7 51,226,260 (GRCm39) nonsense probably null
IGL03167:Ano5 APN 7 51,235,259 (GRCm39) missense probably damaging 0.98
IGL03233:Ano5 APN 7 51,220,116 (GRCm39) missense probably damaging 1.00
PIT4466001:Ano5 UTSW 7 51,194,599 (GRCm39) missense probably damaging 1.00
R0233:Ano5 UTSW 7 51,185,218 (GRCm39) missense possibly damaging 0.94
R0233:Ano5 UTSW 7 51,185,218 (GRCm39) missense possibly damaging 0.94
R0675:Ano5 UTSW 7 51,224,558 (GRCm39) missense probably damaging 1.00
R0723:Ano5 UTSW 7 51,237,506 (GRCm39) missense probably benign 0.20
R0764:Ano5 UTSW 7 51,187,590 (GRCm39) splice site probably benign
R1159:Ano5 UTSW 7 51,229,222 (GRCm39) splice site probably benign
R1218:Ano5 UTSW 7 51,220,169 (GRCm39) splice site probably null
R1288:Ano5 UTSW 7 51,196,620 (GRCm39) missense probably damaging 1.00
R1329:Ano5 UTSW 7 51,196,533 (GRCm39) missense probably benign
R1484:Ano5 UTSW 7 51,216,068 (GRCm39) missense probably damaging 1.00
R1496:Ano5 UTSW 7 51,233,523 (GRCm39) missense probably damaging 1.00
R1512:Ano5 UTSW 7 51,229,316 (GRCm39) missense probably benign 0.00
R1691:Ano5 UTSW 7 51,240,327 (GRCm39) missense probably damaging 1.00
R1859:Ano5 UTSW 7 51,196,581 (GRCm39) missense probably damaging 1.00
R1991:Ano5 UTSW 7 51,187,561 (GRCm39) missense possibly damaging 0.59
R2066:Ano5 UTSW 7 51,235,134 (GRCm39) missense probably damaging 1.00
R2088:Ano5 UTSW 7 51,237,454 (GRCm39) missense possibly damaging 0.50
R2103:Ano5 UTSW 7 51,187,561 (GRCm39) missense possibly damaging 0.59
R2248:Ano5 UTSW 7 51,243,537 (GRCm39) missense probably benign 0.00
R3692:Ano5 UTSW 7 51,240,327 (GRCm39) missense probably damaging 1.00
R3723:Ano5 UTSW 7 51,226,276 (GRCm39) missense probably damaging 1.00
R3805:Ano5 UTSW 7 51,226,398 (GRCm39) missense probably benign 0.22
R3883:Ano5 UTSW 7 51,216,052 (GRCm39) missense probably damaging 1.00
R3978:Ano5 UTSW 7 51,237,554 (GRCm39) missense probably benign
R4035:Ano5 UTSW 7 51,216,233 (GRCm39) splice site probably benign
R4239:Ano5 UTSW 7 51,237,414 (GRCm39) missense probably damaging 0.99
R4466:Ano5 UTSW 7 51,220,023 (GRCm39) missense probably damaging 1.00
R4644:Ano5 UTSW 7 51,237,433 (GRCm39) nonsense probably null
R5021:Ano5 UTSW 7 51,205,933 (GRCm39) missense probably benign
R5028:Ano5 UTSW 7 51,187,458 (GRCm39) splice site probably null
R5609:Ano5 UTSW 7 51,243,385 (GRCm39) missense probably damaging 1.00
R5659:Ano5 UTSW 7 51,233,562 (GRCm39) missense possibly damaging 0.94
R5660:Ano5 UTSW 7 51,233,562 (GRCm39) missense possibly damaging 0.94
R5680:Ano5 UTSW 7 51,233,562 (GRCm39) missense possibly damaging 0.94
R5786:Ano5 UTSW 7 51,216,066 (GRCm39) missense possibly damaging 0.88
R5787:Ano5 UTSW 7 51,216,066 (GRCm39) missense possibly damaging 0.88
R5788:Ano5 UTSW 7 51,216,066 (GRCm39) missense possibly damaging 0.88
R5856:Ano5 UTSW 7 51,235,074 (GRCm39) missense probably benign 0.01
R5930:Ano5 UTSW 7 51,235,079 (GRCm39) missense probably damaging 0.99
R5984:Ano5 UTSW 7 51,243,412 (GRCm39) missense probably damaging 1.00
R6015:Ano5 UTSW 7 51,224,525 (GRCm39) missense probably benign 0.00
R6030:Ano5 UTSW 7 51,224,573 (GRCm39) missense probably damaging 1.00
R6030:Ano5 UTSW 7 51,224,573 (GRCm39) missense probably damaging 1.00
R6247:Ano5 UTSW 7 51,215,879 (GRCm39) splice site probably null
R7552:Ano5 UTSW 7 51,196,528 (GRCm39) missense probably benign 0.31
R7559:Ano5 UTSW 7 51,224,636 (GRCm39) missense probably damaging 1.00
R7712:Ano5 UTSW 7 51,240,403 (GRCm39) missense probably damaging 1.00
R7712:Ano5 UTSW 7 51,222,805 (GRCm39) missense probably benign 0.00
R7805:Ano5 UTSW 7 51,187,548 (GRCm39) missense probably damaging 0.97
R7808:Ano5 UTSW 7 51,237,543 (GRCm39) missense possibly damaging 0.53
R7840:Ano5 UTSW 7 51,237,480 (GRCm39) missense possibly damaging 0.88
R7886:Ano5 UTSW 7 51,220,141 (GRCm39) missense probably benign 0.12
R7975:Ano5 UTSW 7 51,216,286 (GRCm39) missense probably null 0.98
R8006:Ano5 UTSW 7 51,243,518 (GRCm39) missense probably benign 0.05
R8060:Ano5 UTSW 7 51,237,531 (GRCm39) missense probably benign 0.01
R8084:Ano5 UTSW 7 51,229,287 (GRCm39) missense probably benign 0.01
R8351:Ano5 UTSW 7 51,203,626 (GRCm39) missense probably benign 0.10
R8504:Ano5 UTSW 7 51,222,776 (GRCm39) missense probably benign 0.01
R8699:Ano5 UTSW 7 51,243,519 (GRCm39) missense probably benign
R8710:Ano5 UTSW 7 51,243,419 (GRCm39) missense probably damaging 1.00
R8752:Ano5 UTSW 7 51,196,617 (GRCm39) missense probably damaging 1.00
R8771:Ano5 UTSW 7 51,220,047 (GRCm39) nonsense probably null
R8771:Ano5 UTSW 7 51,216,095 (GRCm39) missense probably damaging 0.99
R8815:Ano5 UTSW 7 51,194,548 (GRCm39) nonsense probably null
R9057:Ano5 UTSW 7 51,203,654 (GRCm39) missense probably benign 0.05
R9118:Ano5 UTSW 7 51,220,122 (GRCm39) missense probably damaging 0.99
R9217:Ano5 UTSW 7 51,243,415 (GRCm39) missense probably damaging 1.00
R9462:Ano5 UTSW 7 51,235,200 (GRCm39) missense probably benign 0.19
R9699:Ano5 UTSW 7 51,229,309 (GRCm39) missense probably damaging 1.00
X0062:Ano5 UTSW 7 51,243,399 (GRCm39) nonsense probably null
X0065:Ano5 UTSW 7 51,226,376 (GRCm39) nonsense probably null
Z1176:Ano5 UTSW 7 51,224,451 (GRCm39) missense probably damaging 0.99
Posted On 2014-02-04