Incidental Mutation 'IGL03233:Ano5'
ID 413960
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 # IGL03233
Quality Score
Status
Chromosome 7
Chromosomal Location 51160777-51248457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 51220116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 405 (P405T)
Ref Sequence ENSEMBL: ENSMUSP00000146783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043944] [ENSMUST00000207044] [ENSMUST00000207717]
AlphaFold Q75UR0
Predicted Effect probably damaging
Transcript: ENSMUST00000043944
AA Change: P419T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: P419T

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: P386T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000207717
AA Change: P405T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,260,357 (GRCm39) F856S probably damaging Het
Ak7 A G 12: 105,727,739 (GRCm39) D457G probably damaging Het
Ankrd26 G T 6: 118,512,107 (GRCm39) probably null Het
Asah2 T A 19: 32,032,031 (GRCm39) N46I probably benign Het
Atg4c A T 4: 99,117,740 (GRCm39) Y343F probably benign Het
Cab39 T A 1: 85,770,044 (GRCm39) M175K probably benign Het
Cadps2 T C 6: 23,263,600 (GRCm39) E1257G probably benign Het
Ces1d A G 8: 93,921,707 (GRCm39) Y19H probably benign Het
Cst6 T C 19: 5,399,289 (GRCm39) D25G probably damaging Het
Cyp4a30b A T 4: 115,316,167 (GRCm39) T298S probably benign Het
Dgkk T C X: 6,770,077 (GRCm39) L352P probably damaging Het
Dnai7 A T 6: 145,127,611 (GRCm39) Y433N probably damaging Het
Dync2h1 A C 9: 7,101,525 (GRCm39) F482V possibly damaging Het
Esco1 A G 18: 10,574,877 (GRCm39) W208R probably damaging Het
Fbn2 T C 18: 58,235,449 (GRCm39) D676G probably benign Het
Foxp3 T C X: 7,453,662 (GRCm39) probably benign Het
Gpr108 T A 17: 57,552,042 (GRCm39) I123F probably benign Het
Gsdmc4 A T 15: 63,774,709 (GRCm39) V24E probably damaging Het
Jam3 C A 9: 27,013,217 (GRCm39) V118F probably damaging Het
Kif23 T A 9: 61,833,735 (GRCm39) I489F probably benign Het
Lama3 T A 18: 12,614,095 (GRCm39) V1288D probably damaging Het
Mark2 G T 19: 7,262,091 (GRCm39) H308N possibly damaging Het
Mms19 T C 19: 41,935,352 (GRCm39) probably null Het
Neb A T 2: 52,198,313 (GRCm39) I477N possibly damaging Het
Npm1 G T 11: 33,106,717 (GRCm39) Q204K probably benign Het
Nsun5 G A 5: 135,404,299 (GRCm39) V369M probably damaging Het
Or7a39 C A 10: 78,715,406 (GRCm39) Y133* probably null Het
Pcdhb13 T A 18: 37,577,318 (GRCm39) N565K probably damaging Het
Pla2r1 A G 2: 60,258,924 (GRCm39) F1155L possibly damaging Het
Pus10 T A 11: 23,662,241 (GRCm39) W304R probably damaging Het
Rab32 G A 10: 10,422,057 (GRCm39) Q221* probably null Het
Rlf A G 4: 121,039,797 (GRCm39) probably benign Het
Robo1 A T 16: 72,767,081 (GRCm39) I418F probably damaging Het
Slc44a2 T C 9: 21,259,918 (GRCm39) I642T possibly damaging Het
Ston2 T A 12: 91,614,627 (GRCm39) T594S probably damaging Het
Szt2 T C 4: 118,229,726 (GRCm39) T2802A unknown Het
Tshz3 T A 7: 36,469,504 (GRCm39) Y498N probably damaging Het
Zfp280b T A 10: 75,875,603 (GRCm39) I494N probably damaging Het
Zfp281 A G 1: 136,554,567 (GRCm39) Q515R 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
IGL01800:Ano5 APN 7 51,222,823 (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
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 2016-08-02