Incidental Mutation 'R4274:Ano9'
ID 324709
Institutional Source Beutler Lab
Gene Symbol Ano9
Ensembl Gene ENSMUSG00000054662
Gene Name anoctamin 9
Synonyms 5430425C04Rik, Tmem16j, Trp53i5, Tp53i5
MMRRC Submission 041077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R4274 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 140681125-140697719 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 140690608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 48 (Q48P)
Ref Sequence ENSEMBL: ENSMUSP00000067689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067836]
AlphaFold P86044
Predicted Effect probably benign
Transcript: ENSMUST00000067836
AA Change: Q48P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067689
Gene: ENSMUSG00000054662
AA Change: Q48P

DomainStartEndE-ValueType
Pfam:Anoctamin 174 730 3.3e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211515
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (55/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,980,930 (GRCm39) Y36C probably damaging Het
Abcc4 T C 14: 118,867,034 (GRCm39) R228G probably damaging Het
Acap2 A T 16: 30,926,932 (GRCm39) S528T probably benign Het
Adamts6 T A 13: 104,450,787 (GRCm39) D323E possibly damaging Het
Ano8 G T 8: 71,931,385 (GRCm39) probably benign Het
Atp13a1 T G 8: 70,257,942 (GRCm39) L899R probably benign Het
Card10 G A 15: 78,664,714 (GRCm39) R747W probably damaging Het
Csn1s1 T C 5: 87,828,820 (GRCm39) *295R probably null Het
Dhx9 A G 1: 153,344,672 (GRCm39) I505T probably damaging Het
Dnajc17 A T 2: 119,016,866 (GRCm39) S37T probably benign Het
Dot1l T A 10: 80,619,822 (GRCm39) probably null Het
Dph7 A G 2: 24,853,512 (GRCm39) N109S possibly damaging Het
Ednra C T 8: 78,446,931 (GRCm39) G49D probably benign Het
Fam83g T C 11: 61,592,554 (GRCm39) M259T probably damaging Het
Fer1l4 A T 2: 155,862,464 (GRCm39) D1736E probably damaging Het
Fetub T C 16: 22,754,429 (GRCm39) I212T probably damaging Het
Foxc2 C A 8: 121,844,439 (GRCm39) S362R probably benign Het
Gm8444 A G 15: 81,727,734 (GRCm39) probably benign Het
Gpank1 G A 17: 35,343,245 (GRCm39) E242K probably benign Het
Hps4 G A 5: 112,522,896 (GRCm39) probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Ighv1-20 A T 12: 114,687,819 (GRCm39) W3R probably damaging Het
Kcnq1 T C 7: 142,738,179 (GRCm39) I209T probably damaging Het
Me3 A T 7: 89,455,934 (GRCm39) E262V probably damaging Het
Mei1 G A 15: 82,009,064 (GRCm39) R1233Q possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrgprx3-ps T C 7: 46,959,574 (GRCm39) noncoding transcript Het
Or4k37 A T 2: 111,159,160 (GRCm39) Y132F probably damaging Het
Or5p6 C A 7: 107,630,751 (GRCm39) K266N probably benign Het
Or8a1b A T 9: 37,623,364 (GRCm39) D70E probably damaging Het
Ostm1 T C 10: 42,574,230 (GRCm39) F153L probably damaging Het
Pkd1l3 C T 8: 110,350,751 (GRCm39) T532I possibly damaging Het
Prpf40a G A 2: 53,036,184 (GRCm39) H624Y probably damaging Het
Rtn2 T C 7: 19,021,249 (GRCm39) S210P probably benign Het
Siglec1 T C 2: 130,927,734 (GRCm39) Q24R probably benign Het
Smurf1 T C 5: 144,833,585 (GRCm39) probably benign Het
Ssr1 G A 13: 38,169,266 (GRCm39) L225F possibly damaging Het
Tlr6 A G 5: 65,110,981 (GRCm39) I642T probably benign Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Tnrc18 T C 5: 142,729,405 (GRCm39) K1674R unknown Het
Tns1 T A 1: 73,967,257 (GRCm39) Y1115F probably damaging Het
Trim56 T A 5: 137,142,541 (GRCm39) E325V probably damaging Het
Ttn T C 2: 76,606,318 (GRCm39) T18164A possibly damaging Het
Ugt2a3 A T 5: 87,475,548 (GRCm39) D361E probably damaging Het
Vmn2r125 T C 4: 156,702,382 (GRCm39) I56T probably benign Het
Xkr5 T A 8: 18,984,183 (GRCm39) H453L probably benign Het
Zcchc7 C T 4: 44,931,335 (GRCm39) H496Y possibly damaging Het
Zfp82 C T 7: 29,755,792 (GRCm39) R430H probably damaging Het
Zscan22 T C 7: 12,640,251 (GRCm39) V6A 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
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
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
Predicted Primers PCR Primer
(F):5'- CAAAGAACACCTTCTTCTGGTCC -3'
(R):5'- CATGCTCTATGCTGGGTTCC -3'

Sequencing Primer
(F):5'- GGTCCTTTAACATCTTGAGAGTCAC -3'
(R):5'- GGGTTCCTGTCCCACACC -3'
Posted On 2015-06-24