Incidental Mutation 'R2860:Ano1'
ID 252837
Institutional Source Beutler Lab
Gene Symbol Ano1
Ensembl Gene ENSMUSG00000031075
Gene Name anoctamin 1, calcium activated chloride channel
Synonyms Tmem16a
MMRRC Submission 040450-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2860 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 144588549-144751974 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 144590012 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 1011 (G1011E)
Ref Sequence ENSEMBL: ENSMUSP00000113899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033393] [ENSMUST00000118556] [ENSMUST00000121758]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033393
AA Change: G953E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: G953E

DomainStartEndE-ValueType
low complexity region 129 147 N/A INTRINSIC
Pfam:Anoctamin 320 898 1.3e-149 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118556
AA Change: G1011E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: G1011E

DomainStartEndE-ValueType
Pfam:Anoct_dimer 112 375 5.5e-83 PFAM
Pfam:Anoctamin 378 955 6.7e-140 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121758
AA Change: G1014E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: G1014E

DomainStartEndE-ValueType
Pfam:Anoct_dimer 54 317 7.1e-83 PFAM
Pfam:Anoctamin 320 901 2.2e-139 PFAM
Meta Mutation Damage Score 0.0936 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (44/44)
MGI Phenotype PHENOTYPE: Mice homozygous for a knockout allele exhibit postnatal death associated with aerophagia, slow postnatal weight gain, cyanosis, and abnormal tracheal morphology. Mice homozygous for a different knock-out allele exhibit proteinuria and intracellular endosomal vesicles in PTE cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 36,965,849 (GRCm38) S2079N probably damaging Het
Abca13 A G 11: 9,309,057 (GRCm38) S2928G probably damaging Het
Abcc9 C T 6: 142,626,010 (GRCm38) V1131M probably benign Het
Abcd1 T A X: 73,737,458 (GRCm38) L713H probably damaging Het
Actg1 T C 11: 120,346,801 (GRCm38) I52V probably benign Het
Ang G T 14: 51,101,818 (GRCm38) D139Y probably damaging Het
Apoe T C 7: 19,697,554 (GRCm38) Y46C probably damaging Het
Ash1l T C 3: 89,054,478 (GRCm38) W2386R probably damaging Het
Asph T C 4: 9,598,277 (GRCm38) D250G probably damaging Het
Atr A G 9: 95,874,243 (GRCm38) N836S probably benign Het
Btg3 A G 16: 78,364,980 (GRCm38) V114A probably damaging Het
C2 T C 17: 34,863,878 (GRCm38) T471A possibly damaging Het
C4b T A 17: 34,734,758 (GRCm38) S959C probably damaging Het
Cap1 A T 4: 122,864,725 (GRCm38) S221T probably benign Het
Capn2 A T 1: 182,472,920 (GRCm38) probably benign Het
Cd38 A G 5: 43,901,433 (GRCm38) S130G probably damaging Het
Cd8b1 A G 6: 71,334,101 (GRCm38) R202G probably damaging Het
Col22a1 A G 15: 71,815,943 (GRCm38) probably null Het
Cps1 A T 1: 67,166,375 (GRCm38) E519V probably benign Het
Cyp2c38 G A 19: 39,460,694 (GRCm38) R72W probably benign Het
Cyp3a16 A T 5: 145,455,499 (GRCm38) Y215* probably null Het
F5 A T 1: 164,184,964 (GRCm38) K482N probably damaging Het
Fam212a T C 9: 107,984,404 (GRCm38) T238A probably benign Het
Fam45a T C 19: 60,814,794 (GRCm38) S80P probably benign Het
Gab1 T C 8: 80,784,753 (GRCm38) M488V probably benign Het
Gabpb1 A G 2: 126,653,574 (GRCm38) I86T probably damaging Het
Gbx2 C T 1: 89,929,131 (GRCm38) R179Q probably damaging Het
Gm11938 C A 11: 99,603,146 (GRCm38) R41L probably damaging Het
Gpn1 A G 5: 31,497,320 (GRCm38) D72G probably damaging Het
Greb1 A G 12: 16,711,745 (GRCm38) S545P probably benign Het
Hsd3b7 T G 7: 127,802,270 (GRCm38) L189R probably damaging Het
Iglc1 T C 16: 19,061,910 (GRCm38) probably benign Het
Il18r1 T C 1: 40,498,557 (GRCm38) V494A possibly damaging Het
Itsn2 C A 12: 4,700,315 (GRCm38) probably benign Het
Kcnn1 T C 8: 70,846,535 (GRCm38) K487R probably benign Het
Kdf1 G A 4: 133,528,541 (GRCm38) E190K probably damaging Het
Lama3 G T 18: 12,453,750 (GRCm38) L723F probably damaging Het
Lama5 T C 2: 180,187,247 (GRCm38) T2034A probably benign Het
Maged1 G A X: 94,538,924 (GRCm38) P366S probably damaging Het
Med14 A G X: 12,719,697 (GRCm38) I521T probably benign Het
Mia2 A G 12: 59,154,410 (GRCm38) K841E probably damaging Het
Mrgbp G A 2: 180,583,410 (GRCm38) R53Q possibly damaging Het
Mum1l1 G A X: 139,236,680 (GRCm38) G656S possibly damaging Het
Nmnat2 G A 1: 153,112,425 (GRCm38) V267I probably benign Het
Olfr1305 G T 2: 111,873,473 (GRCm38) C127* probably null Het
Olfr231 A G 1: 174,117,732 (GRCm38) Y95H probably damaging Het
Olfr490 A G 7: 108,286,962 (GRCm38) S55P probably damaging Het
Olfr715b T A 7: 107,106,468 (GRCm38) H131L probably benign Het
Opn4 A G 14: 34,593,828 (GRCm38) probably null Het
Ovgp1 T C 3: 105,986,567 (GRCm38) probably benign Het
Parp16 G T 9: 65,233,804 (GRCm38) D219Y probably damaging Het
Pitpnm2 G C 5: 124,121,437 (GRCm38) H1224Q probably damaging Het
Pkd1 C T 17: 24,565,446 (GRCm38) T322I probably benign Het
Pkhd1l1 A C 15: 44,540,871 (GRCm38) T2299P probably damaging Het
Plin4 T C 17: 56,106,668 (GRCm38) D319G probably damaging Het
Ppp6r3 A C 19: 3,521,782 (GRCm38) S122R possibly damaging Het
Pum3 A T 19: 27,420,125 (GRCm38) probably benign Het
Rims1 A T 1: 22,432,976 (GRCm38) F653I probably benign Het
Rnf113a1 A G X: 37,192,083 (GRCm38) E231G probably damaging Het
Rnf41 T C 10: 128,438,154 (GRCm38) L225P possibly damaging Het
Ryr2 T C 13: 11,593,093 (GRCm38) E876G probably damaging Het
Slc25a10 G A 11: 120,495,177 (GRCm38) V115M probably damaging Het
Snx13 T A 12: 35,138,117 (GRCm38) I798N probably benign Het
Sri A T 5: 8,067,540 (GRCm38) Q178L probably benign Het
Tex14 T G 11: 87,474,417 (GRCm38) D62E probably damaging Het
Tshz1 G T 18: 84,014,980 (GRCm38) H434Q probably damaging Het
Vegfd A G X: 164,385,883 (GRCm38) E57G probably damaging Het
Vmn2r112 T A 17: 22,603,115 (GRCm38) V258E probably damaging Het
Vmn2r59 A G 7: 42,047,003 (GRCm38) I105T possibly damaging Het
Vmn2r6 G T 3: 64,547,339 (GRCm38) T513N probably benign Het
Vmn2r72 A T 7: 85,750,836 (GRCm38) I335N probably damaging Het
Wiz G T 17: 32,361,706 (GRCm38) T257K probably damaging Het
Xirp1 T C 9: 120,019,815 (GRCm38) M1V probably null Het
Xirp1 A G 9: 120,018,378 (GRCm38) S41P probably benign Het
Other mutations in Ano1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Ano1 APN 7 144,638,513 (GRCm38) missense probably damaging 1.00
IGL00754:Ano1 APN 7 144,597,231 (GRCm38) missense probably damaging 0.98
IGL00780:Ano1 APN 7 144,655,630 (GRCm38) missense probably damaging 0.99
IGL00918:Ano1 APN 7 144,644,752 (GRCm38) splice site probably benign
IGL01112:Ano1 APN 7 144,637,145 (GRCm38) missense possibly damaging 0.52
IGL01285:Ano1 APN 7 144,644,742 (GRCm38) missense probably benign 0.00
IGL01285:Ano1 APN 7 144,595,538 (GRCm38) missense probably damaging 0.98
IGL01308:Ano1 APN 7 144,595,498 (GRCm38) missense probably damaging 0.99
IGL01407:Ano1 APN 7 144,637,111 (GRCm38) missense probably benign 0.22
IGL01672:Ano1 APN 7 144,655,675 (GRCm38) missense probably damaging 0.96
IGL01920:Ano1 APN 7 144,611,454 (GRCm38) splice site probably benign
IGL01926:Ano1 APN 7 144,610,875 (GRCm38) missense possibly damaging 0.94
IGL02164:Ano1 APN 7 144,637,181 (GRCm38) missense possibly damaging 0.91
IGL02190:Ano1 APN 7 144,618,883 (GRCm38) missense probably benign 0.41
IGL02214:Ano1 APN 7 144,655,708 (GRCm38) missense possibly damaging 0.80
IGL02299:Ano1 APN 7 144,590,075 (GRCm38) missense possibly damaging 0.80
IGL02567:Ano1 APN 7 144,611,625 (GRCm38) missense probably damaging 1.00
IGL03131:Ano1 APN 7 144,603,585 (GRCm38) missense possibly damaging 0.90
IGL03291:Ano1 APN 7 144,621,675 (GRCm38) missense probably damaging 1.00
IGL03299:Ano1 APN 7 144,654,256 (GRCm38) missense probably damaging 1.00
IGL03394:Ano1 APN 7 144,595,439 (GRCm38) splice site probably null
PIT4434001:Ano1 UTSW 7 144,610,895 (GRCm38) missense probably benign 0.28
R0502:Ano1 UTSW 7 144,597,215 (GRCm38) missense probably damaging 1.00
R0595:Ano1 UTSW 7 144,590,153 (GRCm38) missense possibly damaging 0.94
R0732:Ano1 UTSW 7 144,619,488 (GRCm38) critical splice acceptor site probably null
R0970:Ano1 UTSW 7 144,595,571 (GRCm38) missense probably benign 0.02
R0988:Ano1 UTSW 7 144,633,653 (GRCm38) missense possibly damaging 0.94
R1074:Ano1 UTSW 7 144,611,680 (GRCm38) missense probably damaging 0.98
R1301:Ano1 UTSW 7 144,633,689 (GRCm38) missense possibly damaging 0.60
R1528:Ano1 UTSW 7 144,595,566 (GRCm38) missense probably damaging 1.00
R2018:Ano1 UTSW 7 144,654,250 (GRCm38) missense probably damaging 1.00
R2056:Ano1 UTSW 7 144,648,052 (GRCm38) missense probably damaging 1.00
R2057:Ano1 UTSW 7 144,648,052 (GRCm38) missense probably damaging 1.00
R2058:Ano1 UTSW 7 144,648,052 (GRCm38) missense probably damaging 1.00
R2059:Ano1 UTSW 7 144,611,390 (GRCm38) missense probably damaging 1.00
R2861:Ano1 UTSW 7 144,590,012 (GRCm38) missense probably damaging 1.00
R3770:Ano1 UTSW 7 144,595,569 (GRCm38) missense probably damaging 1.00
R3970:Ano1 UTSW 7 144,607,963 (GRCm38) missense probably benign 0.00
R4179:Ano1 UTSW 7 144,650,505 (GRCm38) missense probably damaging 1.00
R4489:Ano1 UTSW 7 144,611,742 (GRCm38) missense probably benign 0.00
R4678:Ano1 UTSW 7 144,669,552 (GRCm38) missense probably benign 0.01
R4915:Ano1 UTSW 7 144,611,375 (GRCm38) missense possibly damaging 0.69
R5114:Ano1 UTSW 7 144,657,083 (GRCm38) missense possibly damaging 0.71
R5362:Ano1 UTSW 7 144,648,600 (GRCm38) unclassified probably benign
R5364:Ano1 UTSW 7 144,637,204 (GRCm38) missense probably damaging 1.00
R5366:Ano1 UTSW 7 144,654,209 (GRCm38) missense possibly damaging 0.85
R5387:Ano1 UTSW 7 144,648,619 (GRCm38) missense probably benign
R5762:Ano1 UTSW 7 144,648,037 (GRCm38) missense probably damaging 0.99
R5857:Ano1 UTSW 7 144,637,103 (GRCm38) missense probably benign 0.02
R6091:Ano1 UTSW 7 144,669,434 (GRCm38) missense probably benign 0.12
R6093:Ano1 UTSW 7 144,611,377 (GRCm38) missense possibly damaging 0.72
R6177:Ano1 UTSW 7 144,678,741 (GRCm38) missense possibly damaging 0.79
R6246:Ano1 UTSW 7 144,633,725 (GRCm38) missense possibly damaging 0.82
R6274:Ano1 UTSW 7 144,618,863 (GRCm38) missense probably benign 0.01
R6323:Ano1 UTSW 7 144,611,686 (GRCm38) missense possibly damaging 0.95
R6574:Ano1 UTSW 7 144,607,916 (GRCm38) critical splice donor site probably null
R6782:Ano1 UTSW 7 144,621,687 (GRCm38) missense probably damaging 1.00
R6880:Ano1 UTSW 7 144,644,742 (GRCm38) missense probably benign 0.00
R6909:Ano1 UTSW 7 144,655,731 (GRCm38) missense probably damaging 0.96
R7066:Ano1 UTSW 7 144,637,086 (GRCm38) missense probably benign 0.35
R7073:Ano1 UTSW 7 144,638,552 (GRCm38) missense probably damaging 0.96
R7146:Ano1 UTSW 7 144,655,656 (GRCm38) missense probably benign 0.00
R7420:Ano1 UTSW 7 144,655,641 (GRCm38) missense probably benign 0.00
R7874:Ano1 UTSW 7 144,621,724 (GRCm38) missense probably damaging 1.00
R8468:Ano1 UTSW 7 144,655,620 (GRCm38) missense probably damaging 1.00
R8867:Ano1 UTSW 7 144,669,660 (GRCm38) missense possibly damaging 0.66
R8923:Ano1 UTSW 7 144,650,551 (GRCm38) missense possibly damaging 0.61
R9215:Ano1 UTSW 7 144,595,605 (GRCm38) missense probably damaging 1.00
R9281:Ano1 UTSW 7 144,595,581 (GRCm38) missense probably damaging 1.00
R9572:Ano1 UTSW 7 144,650,556 (GRCm38) critical splice acceptor site probably null
R9668:Ano1 UTSW 7 144,610,842 (GRCm38) critical splice donor site probably null
R9681:Ano1 UTSW 7 144,590,156 (GRCm38) missense possibly damaging 0.68
R9756:Ano1 UTSW 7 144,608,929 (GRCm38) missense probably benign 0.45
R9780:Ano1 UTSW 7 144,655,621 (GRCm38) missense probably damaging 1.00
R9792:Ano1 UTSW 7 144,621,697 (GRCm38) missense probably damaging 1.00
R9793:Ano1 UTSW 7 144,621,697 (GRCm38) missense probably damaging 1.00
R9795:Ano1 UTSW 7 144,621,697 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTGCATAATGGCCTTGTG -3'
(R):5'- GGTGATCCCTGATATCCCCAAAG -3'

Sequencing Primer
(F):5'- TGGCCTTGTGCAAAAATGAG -3'
(R):5'- CAGCAGATCCACAAAGAGAAGGTTC -3'
Posted On 2014-12-04