Incidental Mutation 'IGL02538:Ano5'
ID297582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ano5
Ensembl Gene ENSMUSG00000055489
Gene Nameanoctamin 5
SynonymsGdd1, Tmem16e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL02538
Quality Score
Status
Chromosome7
Chromosomal Location51511029-51598709 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 51583775 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 595 (R595H)
Ref Sequence ENSEMBL: ENSMUSP00000146783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043944] [ENSMUST00000207044] [ENSMUST00000207717]
Predicted Effect probably damaging
Transcript: ENSMUST00000043944
AA Change: R645H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: R645H

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 damaging
Transcript: ENSMUST00000207044
AA Change: R612H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000207717
AA Change: R595H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.024 question?
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,306,605 I171L possibly damaging Het
Amdhd1 C T 10: 93,527,246 V327I probably damaging Het
Ankrd1 T C 19: 36,115,056 H257R probably damaging Het
Atg2a A G 19: 6,257,628 T1531A probably benign Het
Bsn A G 9: 108,105,236 S1001P unknown Het
Btn1a1 T C 13: 23,459,215 T355A possibly damaging Het
Cd22 G T 7: 30,877,560 N107K probably benign Het
Ceacam10 A G 7: 24,778,483 H141R probably damaging Het
Chil3 T C 3: 106,164,129 D73G probably damaging Het
Cit C T 5: 115,986,989 Q1536* probably null Het
Dmgdh T A 13: 93,708,753 I418K possibly damaging Het
Efcab6 T A 15: 84,054,521 probably benign Het
Eif4g2 T C 7: 111,079,316 I110V probably benign Het
Fam217a T C 13: 34,911,113 Y221C probably damaging Het
Fezf1 T A 6: 23,246,558 K342N probably damaging Het
Git2 A T 5: 114,730,986 probably benign Het
Gm4951 A T 18: 60,245,872 K160* probably null Het
Gm8126 A T 14: 43,259,590 R63W probably benign Het
Ica1l T C 1: 60,010,186 K203E probably benign Het
Inpp5d A G 1: 87,695,366 M393V probably null Het
Kbtbd11 A G 8: 15,028,841 D480G probably damaging Het
Klhl1 T C 14: 96,240,213 N473S probably benign Het
Krt2 A G 15: 101,811,154 S694P unknown Het
Lhfp C T 3: 53,043,311 A2V probably benign Het
Lipk T A 19: 34,046,879 L354Q probably damaging Het
Luzp2 T A 7: 55,211,798 L225* probably null Het
Mknk1 C T 4: 115,860,091 Q58* probably null Het
Mut A T 17: 40,938,619 I162F probably damaging Het
Nol11 T A 11: 107,173,373 M518L probably benign Het
Nubpl T C 12: 52,310,694 probably benign Het
Nup35 T A 2: 80,644,219 S93R possibly damaging Het
Olfr330 T C 11: 58,529,990 probably benign Het
Olfr992 T A 2: 85,400,303 I77F probably damaging Het
Pex3 T C 10: 13,535,600 E178G possibly damaging Het
Rad23b C A 4: 55,370,457 P161Q possibly damaging Het
Sipa1l2 A G 8: 125,451,977 S1128P probably damaging Het
Terb2 T C 2: 122,204,808 probably benign Het
Trim72 A G 7: 128,004,770 Y96C probably damaging Het
Tyk2 T C 9: 21,111,043 D830G possibly damaging Het
Uri1 A G 7: 37,965,491 S259P probably benign Het
Usp38 A T 8: 80,985,558 L616H probably damaging Het
Uspl1 T A 5: 149,188,459 C73S probably damaging Het
Wdr7 C A 18: 63,796,235 D1047E probably benign Het
Other mutations in Ano5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00653:Ano5 APN 7 51566513 missense probably damaging 0.96
IGL01328:Ano5 APN 7 51556271 critical splice donor site probably null
IGL01800:Ano5 APN 7 51573075 critical splice donor site probably null
IGL01888:Ano5 APN 7 51566300 missense probably benign 0.06
IGL02221:Ano5 APN 7 51570323 missense probably damaging 1.00
IGL03027:Ano5 APN 7 51566277 missense probably damaging 0.99
IGL03133:Ano5 APN 7 51576512 nonsense probably null
IGL03167:Ano5 APN 7 51585511 missense probably damaging 0.98
IGL03233:Ano5 APN 7 51570368 missense probably damaging 1.00
PIT4466001:Ano5 UTSW 7 51544851 missense probably damaging 1.00
R0233:Ano5 UTSW 7 51535470 missense possibly damaging 0.94
R0233:Ano5 UTSW 7 51535470 missense possibly damaging 0.94
R0675:Ano5 UTSW 7 51574810 missense probably damaging 1.00
R0723:Ano5 UTSW 7 51587758 missense probably benign 0.20
R0764:Ano5 UTSW 7 51537842 splice site probably benign
R1159:Ano5 UTSW 7 51579474 splice site probably benign
R1218:Ano5 UTSW 7 51570421 splice site probably null
R1288:Ano5 UTSW 7 51546872 missense probably damaging 1.00
R1329:Ano5 UTSW 7 51546785 missense probably benign
R1484:Ano5 UTSW 7 51566320 missense probably damaging 1.00
R1496:Ano5 UTSW 7 51583775 missense probably damaging 1.00
R1512:Ano5 UTSW 7 51579568 missense probably benign 0.00
R1691:Ano5 UTSW 7 51590579 missense probably damaging 1.00
R1859:Ano5 UTSW 7 51546833 missense probably damaging 1.00
R1991:Ano5 UTSW 7 51537813 missense possibly damaging 0.59
R2066:Ano5 UTSW 7 51585386 missense probably damaging 1.00
R2088:Ano5 UTSW 7 51587706 missense possibly damaging 0.50
R2103:Ano5 UTSW 7 51537813 missense possibly damaging 0.59
R2248:Ano5 UTSW 7 51593789 missense probably benign 0.00
R3692:Ano5 UTSW 7 51590579 missense probably damaging 1.00
R3723:Ano5 UTSW 7 51576528 missense probably damaging 1.00
R3805:Ano5 UTSW 7 51576650 missense probably benign 0.22
R3883:Ano5 UTSW 7 51566304 missense probably damaging 1.00
R3978:Ano5 UTSW 7 51587806 missense probably benign
R4035:Ano5 UTSW 7 51566485 splice site probably benign
R4239:Ano5 UTSW 7 51587666 missense probably damaging 0.99
R4466:Ano5 UTSW 7 51570275 missense probably damaging 1.00
R4644:Ano5 UTSW 7 51587685 nonsense probably null
R5021:Ano5 UTSW 7 51556185 missense probably benign
R5028:Ano5 UTSW 7 51537710 splice site probably null
R5609:Ano5 UTSW 7 51593637 missense probably damaging 1.00
R5659:Ano5 UTSW 7 51583814 missense possibly damaging 0.94
R5660:Ano5 UTSW 7 51583814 missense possibly damaging 0.94
R5680:Ano5 UTSW 7 51583814 missense possibly damaging 0.94
R5786:Ano5 UTSW 7 51566318 missense possibly damaging 0.88
R5787:Ano5 UTSW 7 51566318 missense possibly damaging 0.88
R5788:Ano5 UTSW 7 51566318 missense possibly damaging 0.88
R5856:Ano5 UTSW 7 51585326 missense probably benign 0.01
R5930:Ano5 UTSW 7 51585331 missense probably damaging 0.99
R5984:Ano5 UTSW 7 51593664 missense probably damaging 1.00
R6015:Ano5 UTSW 7 51574777 missense probably benign 0.00
R6030:Ano5 UTSW 7 51574825 missense probably damaging 1.00
R6030:Ano5 UTSW 7 51574825 missense probably damaging 1.00
R6247:Ano5 UTSW 7 51566131 intron probably null
R7552:Ano5 UTSW 7 51546780 missense probably benign 0.31
R7559:Ano5 UTSW 7 51574888 missense probably damaging 1.00
X0062:Ano5 UTSW 7 51593651 nonsense probably null
X0065:Ano5 UTSW 7 51576628 nonsense probably null
Posted On2015-04-16