Incidental Mutation 'R4577:Ano9'
ID 342554
Institutional Source Beutler Lab
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 # R4577 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 140681125-140697719 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140684051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 538 (Q538R)
Ref Sequence ENSEMBL: ENSMUSP00000067689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067836] [ENSMUST00000097958] [ENSMUST00000209294] [ENSMUST00000210167]
AlphaFold P86044
Predicted Effect probably damaging
Transcript: ENSMUST00000067836
AA Change: Q538R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067689
Gene: ENSMUSG00000054662
AA Change: Q538R

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: ENSMUST00000210763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210978
Meta Mutation Damage Score 0.7558 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A C 4: 144,430,323 (GRCm39) I222S probably damaging Het
Abca1 C A 4: 53,062,568 (GRCm39) C1429F possibly damaging Het
Acacb A G 5: 114,364,892 (GRCm39) E1524G probably damaging Het
Ankrd50 A G 3: 38,510,090 (GRCm39) V759A probably damaging Het
Bnip2 A G 9: 69,904,444 (GRCm39) D67G probably benign Het
Cacna1e A T 1: 154,277,773 (GRCm39) S2060T possibly damaging Het
Cand2 G A 6: 115,768,220 (GRCm39) C455Y probably damaging Het
Cdh16 T C 8: 105,345,191 (GRCm39) D366G probably damaging Het
Cep170b A G 12: 112,711,152 (GRCm39) R595G probably damaging Het
Chaf1a G A 17: 56,372,184 (GRCm39) R784Q probably damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Clca4a C A 3: 144,660,730 (GRCm39) S698I probably damaging Het
Dnah5 A C 15: 28,289,396 (GRCm39) Y1195S probably benign Het
Dynlt4 A G 4: 116,985,812 (GRCm39) T212A possibly damaging Het
Dysf T C 6: 84,114,308 (GRCm39) I1229T probably damaging Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Ep300 T C 15: 81,533,210 (GRCm39) S1756P unknown Het
Ep300 T A 15: 81,495,611 (GRCm39) probably benign Het
F3 A G 3: 121,527,763 (GRCm39) I254V probably benign Het
Frmd4a C A 2: 4,608,490 (GRCm39) A786E possibly damaging Het
Fsd1l T C 4: 53,686,397 (GRCm39) F270S probably damaging Het
Galnt3 T C 2: 65,928,203 (GRCm39) Y231C probably benign Het
Gm10220 A C 5: 26,322,869 (GRCm39) I181S probably benign Het
Gnb5 G A 9: 75,250,823 (GRCm39) V316I possibly damaging Het
Gys2 A G 6: 142,400,236 (GRCm39) F325S possibly damaging Het
Hmgn2 G A 4: 133,694,668 (GRCm39) probably benign Het
Hsph1 A G 5: 149,542,308 (GRCm39) V705A probably benign Het
Ighg2b T C 12: 113,270,512 (GRCm39) E206G unknown Het
Iqub A T 6: 24,501,290 (GRCm39) I220N probably damaging Het
Jmjd1c A G 10: 67,085,529 (GRCm39) T2259A probably damaging Het
Kcnq3 T C 15: 66,158,063 (GRCm39) K4R unknown Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
L3mbtl2 G A 15: 81,570,486 (GRCm39) E655K probably benign Het
Lrp1b C T 2: 40,711,731 (GRCm39) C3163Y probably damaging Het
Map3k19 T A 1: 127,750,550 (GRCm39) R934* probably null Het
Map4 A G 9: 109,910,489 (GRCm39) T1061A possibly damaging Het
Mbnl1 G A 3: 60,437,199 (GRCm39) V50I probably damaging Het
Med15 G A 16: 17,492,379 (GRCm39) Q132* probably null Het
Mef2a T C 7: 66,890,187 (GRCm39) N131S probably benign Het
Mtmr3 G C 11: 4,447,375 (GRCm39) L361V probably damaging Het
Myo5a A G 9: 75,124,827 (GRCm39) E1792G probably damaging Het
Nup88 C A 11: 70,860,543 (GRCm39) A55S probably damaging Het
Or1ab2 T A 8: 72,864,167 (GRCm39) Y252* probably null Het
Or4a79 T C 2: 89,552,387 (GRCm39) K23E possibly damaging Het
Pacs1 G T 19: 5,193,861 (GRCm39) S556* probably null Het
Parp4 A G 14: 56,827,867 (GRCm39) E206G probably benign Het
Paxbp1 T G 16: 90,812,042 (GRCm39) K889N probably damaging Het
Pcdhga2 G A 18: 37,802,302 (GRCm39) A49T possibly damaging Het
Pcsk6 T A 7: 65,609,014 (GRCm39) L292* probably null Het
Plb1 C T 5: 32,404,901 (GRCm39) Q20* probably null Het
Plec C A 15: 76,068,269 (GRCm39) Q1142H possibly damaging Het
Pnpla2 T C 7: 141,037,257 (GRCm39) S87P probably damaging Het
Prss28 T C 17: 25,529,079 (GRCm39) V140A probably damaging Het
Rad17 A T 13: 100,769,786 (GRCm39) S258T probably damaging Het
Rnf111 A T 9: 70,336,866 (GRCm39) C932* probably null Het
Sdc2 T C 15: 33,017,278 (GRCm39) Y31H probably damaging Het
Selenoh T C 2: 84,500,675 (GRCm39) E55G possibly damaging Het
Serpina3k T G 12: 104,310,451 (GRCm39) V327G possibly damaging Het
Setd1b A G 5: 123,286,679 (GRCm39) E575G unknown Het
Slco1a4 A T 6: 141,765,266 (GRCm39) S325R probably damaging Het
Smtnl1 C A 2: 84,648,787 (GRCm39) V156L possibly damaging Het
Spef1l A G 7: 139,558,043 (GRCm39) I51T probably damaging Het
Speg A G 1: 75,392,039 (GRCm39) D1607G probably damaging Het
Tmem101 T A 11: 102,046,663 (GRCm39) M69L possibly damaging Het
Treh G A 9: 44,597,208 (GRCm39) M542I probably benign Het
Trim30b T C 7: 104,006,538 (GRCm39) Y106C possibly damaging Het
Ttc6 T C 12: 57,623,441 (GRCm39) I280T probably benign Het
Ubtfl1 A G 9: 18,320,789 (GRCm39) T106A probably damaging Het
Wdr27 T C 17: 15,123,724 (GRCm39) H583R probably benign Het
Xirp2 C T 2: 67,344,241 (GRCm39) P2161S probably damaging 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
IGL02506:Ano9 APN 7 140,682,167 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGGTGAAAAGCCCAGGATTG -3'
(R):5'- AGGAGTGGCAGCGTAACTAC -3'

Sequencing Primer
(F):5'- GAAGTTGCTCTTCCCAGCG -3'
(R):5'- TGGCAGCGTAACTACTACATG -3'
Posted On 2015-09-24