Incidental Mutation 'IGL01807:Ano7'
ID155709
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ano7
Ensembl Gene ENSMUSG00000034107
Gene Nameanoctamin 7
SynonymsTmem16g, NGEP-L, IPCA-5, NGEP, Pcanap5
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.314) question?
Stock #IGL01807
Quality Score
Status
Chromosome1
Chromosomal Location93373930-93404303 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93402696 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 814 (E814G)
Ref Sequence ENSEMBL: ENSMUSP00000140438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058682] [ENSMUST00000170883] [ENSMUST00000186641]
Predicted Effect possibly damaging
Transcript: ENSMUST00000058682
AA Change: E814G

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107
AA Change: E814G

DomainStartEndE-ValueType
Pfam:Anoct_dimer 49 274 2.2e-63 PFAM
Pfam:Anoctamin 277 824 3.4e-146 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170883
SMART Domains Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088

DomainStartEndE-ValueType
KH 149 217 1.97e-15 SMART
KH 221 289 1.8e-9 SMART
KH 294 362 1.73e-11 SMART
KH 363 429 2.66e-12 SMART
KH 434 502 9.18e-16 SMART
KH 506 575 7.52e-12 SMART
KH 580 648 7.68e-18 SMART
KH 652 721 3.24e-16 SMART
KH 726 795 1.33e-12 SMART
KH 799 868 2.48e-12 SMART
KH 872 972 3.03e-16 SMART
KH 973 1039 4.56e-11 SMART
KH 1051 1122 3.67e-15 SMART
KH 1126 1195 3.37e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000186641
AA Change: E814G

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107
AA Change: E814G

DomainStartEndE-ValueType
Pfam:Anoctamin 277 825 6.6e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190340
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. In humans, this protein is primarily found in prostate tissues and may serve as a target for prostate cancer immunotherapy. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 G T 6: 142,605,914 L1223M probably damaging Het
Atf1 T C 15: 100,252,064 probably benign Het
Bco2 T C 9: 50,545,858 probably benign Het
Birc6 A G 17: 74,631,037 I2625V probably benign Het
Bub1 A G 2: 127,812,977 S545P probably benign Het
Cacna1i T A 15: 80,374,147 I1173N probably damaging Het
Ccdc175 T C 12: 72,159,842 E210G probably benign Het
Ccl2 G A 11: 82,035,687 G9D possibly damaging Het
Chmp2b T A 16: 65,540,205 T189S probably benign Het
Col4a1 A T 8: 11,247,056 probably benign Het
Ecm1 A G 3: 95,736,579 S236P probably damaging Het
Epha8 A G 4: 136,931,682 V887A probably benign Het
Fam227a T C 15: 79,649,655 M36V probably benign Het
Fbxo15 T A 18: 84,981,381 probably benign Het
Mtmr4 A G 11: 87,604,150 I423V possibly damaging Het
Ngly1 C T 14: 16,290,873 L452F probably benign Het
Olfr194 T C 16: 59,119,573 T166A possibly damaging Het
Olfr654 T A 7: 104,587,884 W27R probably damaging Het
Pak2 T C 16: 32,037,279 K247E probably damaging Het
Pola2 A G 19: 5,953,159 probably benign Het
Ppp1r9a C T 6: 5,158,248 Q1219* probably null Het
Rasgrf1 T C 9: 89,991,513 I625T probably damaging Het
Rpap1 T C 2: 119,782,708 T120A possibly damaging Het
Scin T C 12: 40,084,289 Y252C probably damaging Het
Slc5a9 A T 4: 111,877,540 *686R probably null Het
Smc1b T A 15: 85,096,745 D774V probably damaging Het
Uba6 C T 5: 86,122,411 R838Q probably damaging Het
Ulk4 A G 9: 121,255,185 S105P probably damaging Het
Vwa3a G A 7: 120,775,506 probably null Het
Xirp2 A G 2: 67,515,031 T2539A probably benign Het
Zfpm2 T C 15: 40,753,056 probably null Het
Other mutations in Ano7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Ano7 APN 1 93402166 missense probably benign 0.04
IGL00838:Ano7 APN 1 93402757 missense possibly damaging 0.91
IGL01295:Ano7 APN 1 93380478 missense probably benign 0.00
IGL01322:Ano7 APN 1 93395508 missense probably benign 0.08
IGL01859:Ano7 APN 1 93394446 missense probably damaging 1.00
IGL02349:Ano7 APN 1 93391490 missense probably benign 0.02
IGL02976:Ano7 APN 1 93402673 missense possibly damaging 0.78
R0360:Ano7 UTSW 1 93388658 missense probably benign 0.01
R0364:Ano7 UTSW 1 93388658 missense probably benign 0.01
R0528:Ano7 UTSW 1 93395502 missense probably null 1.00
R0741:Ano7 UTSW 1 93401587 missense probably damaging 0.97
R1131:Ano7 UTSW 1 93401776 missense probably benign 0.24
R1156:Ano7 UTSW 1 93401852 unclassified probably null
R1500:Ano7 UTSW 1 93397328 missense probably damaging 1.00
R1710:Ano7 UTSW 1 93385624 missense probably benign 0.00
R2002:Ano7 UTSW 1 93400581 unclassified probably benign
R2062:Ano7 UTSW 1 93390313 missense probably benign
R2120:Ano7 UTSW 1 93402133 splice site probably benign
R2200:Ano7 UTSW 1 93380436 missense possibly damaging 0.93
R2268:Ano7 UTSW 1 93380439 missense possibly damaging 0.51
R2763:Ano7 UTSW 1 93399186 splice site probably null
R4202:Ano7 UTSW 1 93380478 missense probably benign 0.00
R4204:Ano7 UTSW 1 93380478 missense probably benign 0.00
R4205:Ano7 UTSW 1 93380478 missense probably benign 0.00
R4453:Ano7 UTSW 1 93394353 missense probably damaging 1.00
R4627:Ano7 UTSW 1 93375185 missense probably benign 0.15
R4735:Ano7 UTSW 1 93400494 missense probably benign
R4809:Ano7 UTSW 1 93394566 missense probably benign 0.20
R4935:Ano7 UTSW 1 93395314 missense possibly damaging 0.48
R4970:Ano7 UTSW 1 93397363 missense possibly damaging 0.77
R5112:Ano7 UTSW 1 93397363 missense possibly damaging 0.77
R5249:Ano7 UTSW 1 93375196 missense probably benign
R5813:Ano7 UTSW 1 93384919 critical splice donor site probably null
R6181:Ano7 UTSW 1 93395359 missense probably damaging 1.00
R7113:Ano7 UTSW 1 93385620 missense not run
Posted On2014-02-04