Incidental Mutation 'IGL02506:Ano9'
ID 296358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ano9
Ensembl Gene ENSMUSG00000054662
Gene Name anoctamin 9
Synonyms 5430425C04Rik, Tmem16j, Trp53i5, Tp53i5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02506
Quality Score
Status
Chromosome 7
Chromosomal Location 140681125-140697719 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 140682167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067836] [ENSMUST00000097958] [ENSMUST00000209294] [ENSMUST00000210167]
AlphaFold P86044
Predicted Effect probably benign
Transcript: ENSMUST00000067836
SMART Domains Protein: ENSMUSP00000067689
Gene: ENSMUSG00000054662

DomainStartEndE-ValueType
Pfam:Anoctamin 174 730 3.3e-118 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097958
SMART Domains Protein: ENSMUSP00000095571
Gene: ENSMUSG00000025494

DomainStartEndE-ValueType
IG 17 112 5.21e-2 SMART
transmembrane domain 117 139 N/A INTRINSIC
Pfam:TIR 163 327 2.2e-19 PFAM
Pfam:TIR_2 166 308 2.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157917
Predicted Effect probably benign
Transcript: ENSMUST00000209294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210085
Predicted Effect probably benign
Transcript: ENSMUST00000210167
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210978
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,999,916 (GRCm39) E189G possibly damaging Het
Acad11 T C 9: 103,968,931 (GRCm39) probably null Het
Adcy7 G T 8: 89,044,571 (GRCm39) R488L probably damaging Het
Akt1 C T 12: 112,625,714 (GRCm39) probably benign Het
Arhgap15 A G 2: 43,953,820 (GRCm39) D182G possibly damaging Het
Asxl3 T A 18: 22,585,456 (GRCm39) V127D probably benign Het
Cacna1g A G 11: 94,319,955 (GRCm39) M1407T probably damaging Het
Card9 A C 2: 26,244,427 (GRCm39) probably benign Het
Cdh5 A G 8: 104,864,454 (GRCm39) N472D probably damaging Het
Ceacam2 T A 7: 25,227,379 (GRCm39) T343S probably benign Het
Cic T A 7: 24,990,282 (GRCm39) C1928S probably benign Het
Clk3 C T 9: 57,661,927 (GRCm39) W31* probably null Het
Cntn4 A G 6: 106,595,349 (GRCm39) T489A probably benign Het
Crispld1 G A 1: 17,826,529 (GRCm39) R431H probably damaging Het
Crmp1 T A 5: 37,436,199 (GRCm39) probably benign Het
Cyld A G 8: 89,456,218 (GRCm39) T423A possibly damaging Het
Cyp3a44 A T 5: 145,736,198 (GRCm39) I84N probably damaging Het
D2hgdh A G 1: 93,757,507 (GRCm39) N141D probably damaging Het
Dip2b T A 15: 100,055,162 (GRCm39) L341Q probably damaging Het
F3 C T 3: 121,525,323 (GRCm39) T53I possibly damaging Het
Fam227b T A 2: 125,845,831 (GRCm39) Y386F probably benign Het
Fmn1 A T 2: 113,355,640 (GRCm39) T694S unknown Het
Gcnt2 T A 13: 41,040,856 (GRCm39) V5E probably benign Het
Herpud1 G T 8: 95,121,270 (GRCm39) E355* probably null Het
Igf1r T C 7: 67,843,144 (GRCm39) S752P probably benign Het
Iqsec1 T C 6: 90,649,057 (GRCm39) I687V possibly damaging Het
Kdm5a T C 6: 120,409,110 (GRCm39) S1598P probably damaging Het
Klk1b9 A G 7: 43,445,063 (GRCm39) E185G probably benign Het
Myo16 G T 8: 10,440,217 (GRCm39) R423L probably damaging Het
Myo7b T C 18: 32,100,207 (GRCm39) E1609G probably damaging Het
Nom1 T A 5: 29,644,814 (GRCm39) probably benign Het
Nomo1 A G 7: 45,727,480 (GRCm39) I1040V possibly damaging Het
Or8b39 G A 9: 37,996,741 (GRCm39) G203D probably damaging Het
Paqr9 T C 9: 95,442,748 (GRCm39) V246A probably benign Het
Pfkfb4 A T 9: 108,859,404 (GRCm39) D437V probably benign Het
Phldb1 G T 9: 44,622,223 (GRCm39) D797E probably benign Het
Pkd1l3 A G 8: 110,374,132 (GRCm39) E1399G probably damaging Het
Plekhs1 G A 19: 56,460,198 (GRCm39) C97Y probably damaging Het
Plscr4 A T 9: 92,372,044 (GRCm39) I272L possibly damaging Het
Prlhr A C 19: 60,456,366 (GRCm39) Y67D probably damaging Het
Rab3gap2 A G 1: 184,984,221 (GRCm39) probably benign Het
Rad23b T C 4: 55,382,511 (GRCm39) V238A probably benign Het
Sel1l2 T C 2: 140,117,380 (GRCm39) T164A possibly damaging Het
Serpinh1 T A 7: 98,996,199 (GRCm39) K295M probably damaging Het
Slc45a4 T C 15: 73,453,687 (GRCm39) E770G probably benign Het
Spag4 T C 2: 155,911,142 (GRCm39) L390P probably damaging Het
Stip1 A G 19: 7,012,857 (GRCm39) probably benign Het
Tacr1 A G 6: 82,380,739 (GRCm39) N50S probably damaging Het
Tg T C 15: 66,613,443 (GRCm39) V433A possibly damaging Het
Ubap1l T A 9: 65,276,493 (GRCm39) probably benign Het
Usp40 A T 1: 87,909,738 (GRCm39) I572K probably damaging Het
Vps13b G T 15: 35,917,308 (GRCm39) E3717D probably damaging Het
Wdr81 T C 11: 75,335,232 (GRCm39) N1778S probably benign Het
Ylpm1 T A 12: 85,095,965 (GRCm39) F1162Y probably damaging Het
Zbtb10 T A 3: 9,330,297 (GRCm39) F552I probably damaging Het
Zfp507 T C 7: 35,475,891 (GRCm39) I811V probably damaging Het
Zfp663 A T 2: 165,195,871 (GRCm39) V116D probably benign Het
Other mutations in Ano9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Ano9 APN 7 140,681,955 (GRCm39) nonsense probably null
IGL01620:Ano9 APN 7 140,690,352 (GRCm39) missense probably damaging 1.00
IGL02045:Ano9 APN 7 140,682,382 (GRCm39) missense probably benign 0.00
IGL02657:Ano9 APN 7 140,687,353 (GRCm39) missense probably damaging 1.00
IGL02731:Ano9 APN 7 140,687,117 (GRCm39) missense probably damaging 1.00
IGL02863:Ano9 APN 7 140,688,564 (GRCm39) missense probably benign 0.00
R0114:Ano9 UTSW 7 140,683,152 (GRCm39) unclassified probably benign
R0374:Ano9 UTSW 7 140,687,727 (GRCm39) missense probably damaging 0.98
R0487:Ano9 UTSW 7 140,687,762 (GRCm39) missense possibly damaging 0.85
R0600:Ano9 UTSW 7 140,684,623 (GRCm39) missense probably damaging 1.00
R0702:Ano9 UTSW 7 140,687,195 (GRCm39) missense probably damaging 1.00
R0765:Ano9 UTSW 7 140,687,097 (GRCm39) missense probably damaging 1.00
R1679:Ano9 UTSW 7 140,688,210 (GRCm39) missense probably benign 0.03
R1773:Ano9 UTSW 7 140,688,291 (GRCm39) missense possibly damaging 0.95
R1809:Ano9 UTSW 7 140,688,717 (GRCm39) missense possibly damaging 0.93
R1883:Ano9 UTSW 7 140,682,244 (GRCm39) missense probably benign
R2034:Ano9 UTSW 7 140,688,048 (GRCm39) missense probably damaging 0.99
R2159:Ano9 UTSW 7 140,688,030 (GRCm39) missense probably benign 0.01
R2254:Ano9 UTSW 7 140,683,003 (GRCm39) missense probably benign
R2293:Ano9 UTSW 7 140,682,428 (GRCm39) missense probably benign
R3177:Ano9 UTSW 7 140,684,037 (GRCm39) missense probably damaging 1.00
R3277:Ano9 UTSW 7 140,684,037 (GRCm39) missense probably damaging 1.00
R4274:Ano9 UTSW 7 140,690,608 (GRCm39) missense probably benign
R4576:Ano9 UTSW 7 140,684,051 (GRCm39) missense probably damaging 1.00
R4577:Ano9 UTSW 7 140,684,051 (GRCm39) missense probably damaging 1.00
R4872:Ano9 UTSW 7 140,687,117 (GRCm39) missense probably damaging 1.00
R4879:Ano9 UTSW 7 140,690,415 (GRCm39) missense probably benign 0.23
R5160:Ano9 UTSW 7 140,684,278 (GRCm39) missense probably damaging 1.00
R5560:Ano9 UTSW 7 140,690,395 (GRCm39) missense probably damaging 1.00
R6148:Ano9 UTSW 7 140,686,698 (GRCm39) missense probably damaging 1.00
R6302:Ano9 UTSW 7 140,684,221 (GRCm39) missense probably damaging 1.00
R6821:Ano9 UTSW 7 140,687,169 (GRCm39) missense possibly damaging 0.70
R7253:Ano9 UTSW 7 140,687,350 (GRCm39) missense probably damaging 0.96
R7479:Ano9 UTSW 7 140,682,348 (GRCm39) missense probably damaging 0.99
R7836:Ano9 UTSW 7 140,683,114 (GRCm39) missense probably damaging 1.00
R7942:Ano9 UTSW 7 140,683,989 (GRCm39) missense probably damaging 0.96
R8051:Ano9 UTSW 7 140,684,445 (GRCm39) missense probably damaging 1.00
R8341:Ano9 UTSW 7 140,682,247 (GRCm39) missense possibly damaging 0.94
R8690:Ano9 UTSW 7 140,684,220 (GRCm39) missense probably benign 0.26
R9137:Ano9 UTSW 7 140,684,028 (GRCm39) missense probably damaging 1.00
R9355:Ano9 UTSW 7 140,681,817 (GRCm39) missense probably benign 0.00
R9521:Ano9 UTSW 7 140,682,227 (GRCm39) missense probably benign 0.01
R9645:Ano9 UTSW 7 140,687,388 (GRCm39) missense probably benign 0.35
Posted On 2015-04-16