Incidental Mutation 'R3970:Ano1'
ID 310920
Institutional Source Beutler Lab
Gene Symbol Ano1
Ensembl Gene ENSMUSG00000031075
Gene Name anoctamin 1, calcium activated chloride channel
Synonyms Tmem16a
MMRRC Submission 040938-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3970 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 144588549-144751974 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144607963 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 749 (N749D)
Ref Sequence ENSEMBL: ENSMUSP00000112616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033393] [ENSMUST00000118556] [ENSMUST00000121758]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033393
AA Change: N688D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: N688D

DomainStartEndE-ValueType
low complexity region 129 147 N/A INTRINSIC
Pfam:Anoctamin 320 898 1.3e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118556
AA Change: N746D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: N746D

DomainStartEndE-ValueType
Pfam:Anoct_dimer 112 375 5.5e-83 PFAM
Pfam:Anoctamin 378 955 6.7e-140 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121758
AA Change: N749D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: N749D

DomainStartEndE-ValueType
Pfam:Anoct_dimer 54 317 7.1e-83 PFAM
Pfam:Anoctamin 320 901 2.2e-139 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131571
Meta Mutation Damage Score 0.0717 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 96% (53/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 147,945,322 (GRCm38) M583T probably damaging Het
Actn4 T C 7: 28,962,032 (GRCm38) K51R probably benign Het
Adamts15 T C 9: 30,910,602 (GRCm38) Y513C probably benign Het
Akap13 T A 7: 75,569,951 (GRCm38) L34* probably null Het
Akap6 A T 12: 53,141,453 (GRCm38) K1883N probably damaging Het
Armcx6 G T X: 134,749,756 (GRCm38) H109N possibly damaging Het
Camk4 T A 18: 33,179,581 (GRCm38) I258N possibly damaging Het
Cdhr2 A T 13: 54,726,458 (GRCm38) N781I probably damaging Het
Cherp T C 8: 72,469,951 (GRCm38) H196R possibly damaging Het
Chia1 T G 3: 106,121,635 (GRCm38) probably null Het
Col11a1 A T 3: 114,097,189 (GRCm38) T392S unknown Het
Commd9 C A 2: 101,897,141 (GRCm38) N93K probably benign Het
Csf2rb T C 15: 78,341,467 (GRCm38) V286A probably benign Het
Dnah17 G A 11: 118,041,158 (GRCm38) probably benign Het
E2f1 C G 2: 154,564,022 (GRCm38) G144R probably damaging Het
Fam196b A T 11: 34,419,739 (GRCm38) Q481L probably damaging Het
Fcho2 A T 13: 98,735,056 (GRCm38) S551T probably benign Het
Flna A T X: 74,235,667 (GRCm38) V1253E probably damaging Het
Gm12185 A T 11: 48,907,345 (GRCm38) C774S probably benign Het
Gm14401 T C 2: 177,086,996 (GRCm38) Y292H possibly damaging Het
Kif5c A G 2: 49,688,744 (GRCm38) E128G probably damaging Het
Lama3 A T 18: 12,580,341 (GRCm38) K3230M probably damaging Het
Myof T G 19: 38,022,610 (GRCm38) D60A possibly damaging Het
Myof C T 19: 37,901,263 (GRCm38) V1287M probably damaging Het
Myrf A G 19: 10,223,237 (GRCm38) L332P probably damaging Het
Nampt T A 12: 32,833,096 (GRCm38) D93E probably benign Het
Narf A T 11: 121,238,421 (GRCm38) E10D possibly damaging Het
Nlrp6 C A 7: 140,921,655 (GRCm38) A45E probably damaging Het
Obscn G A 11: 59,051,662 (GRCm38) P4898L probably damaging Het
Olfr251 T C 9: 38,377,926 (GRCm38) V15A probably damaging Het
Pabpc5 A G X: 119,928,624 (GRCm38) E212G probably benign Het
Pcdh8 C T 14: 79,770,266 (GRCm38) G286S possibly damaging Het
Pcdha2 C A 18: 36,940,697 (GRCm38) Y460* probably null Het
Pcdhga4 G T 18: 37,687,601 (GRCm38) L734F possibly damaging Het
Pecr G A 1: 72,276,309 (GRCm38) T94I probably damaging Het
Piezo2 A T 18: 63,011,696 (GRCm38) V2776E probably damaging Het
Pign A C 1: 105,656,003 (GRCm38) S125A probably damaging Het
Pik3r2 G A 8: 70,770,421 (GRCm38) R452C probably benign Het
Pkd1l1 C T 11: 8,874,218 (GRCm38) E1566K probably damaging Het
Plcb2 A G 2: 118,715,690 (GRCm38) probably benign Het
Ppl T C 16: 5,100,332 (GRCm38) probably null Het
Pramel4 A T 4: 144,068,474 (GRCm38) N477I possibly damaging Het
Psd C T 19: 46,324,406 (GRCm38) R175H probably benign Het
Sema3g T C 14: 31,226,521 (GRCm38) probably null Het
Sf3b1 G A 1: 55,012,182 (GRCm38) R196* probably null Het
Slc26a4 G T 12: 31,528,687 (GRCm38) H656N probably damaging Het
Slc6a7 A C 18: 61,003,345 (GRCm38) L328R possibly damaging Het
Stab2 T C 10: 86,878,886 (GRCm38) T139A probably damaging Het
Tiam2 T A 17: 3,428,831 (GRCm38) I613N probably damaging Het
Tlk1 A G 2: 70,716,652 (GRCm38) V695A probably damaging Het
Trpc2 A G 7: 102,084,324 (GRCm38) D160G probably damaging Het
Uhrf2 T C 19: 30,079,915 (GRCm38) V491A probably damaging Het
Vwa7 G A 17: 35,017,708 (GRCm38) A84T probably damaging Het
Zfp219 T A 14: 52,006,964 (GRCm38) Q541L 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
R2860:Ano1 UTSW 7 144,590,012 (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
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'- ATTTCTAATGTGGTAGCCTGTTTCC -3'
(R):5'- TAGCAGTGGTCCAGGCTTAG -3'

Sequencing Primer
(F):5'- ACTGGCTTGGCACTCATCAAG -3'
(R):5'- TCCAGGCTTAGGGCAGACAG -3'
Posted On 2015-04-29