Incidental Mutation 'IGL01112:Ano1'
ID 51571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ano1
Ensembl Gene ENSMUSG00000031075
Gene Name anoctamin 1, calcium activated chloride channel
Synonyms Tmem16a
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01112
Quality Score
Status
Chromosome 7
Chromosomal Location 144142286-144305711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144190882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 401 (I401V)
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 benign
Transcript: ENSMUST00000033393
AA Change: I343V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: I343V

DomainStartEndE-ValueType
low complexity region 129 147 N/A INTRINSIC
Pfam:Anoctamin 320 898 1.3e-149 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000118556
AA Change: I401V

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: I401V

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: I400V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: I400V

DomainStartEndE-ValueType
Pfam:Anoct_dimer 54 317 7.1e-83 PFAM
Pfam:Anoctamin 320 901 2.2e-139 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000152531
AA Change: I230V
SMART Domains Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: I230V

DomainStartEndE-ValueType
Pfam:Anoct_dimer 2 205 4.4e-64 PFAM
Pfam:Anoctamin 208 335 3e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208985
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 A T 7: 141,184,932 (GRCm39) probably benign Het
Apol7c T A 15: 77,410,637 (GRCm39) D103V probably damaging Het
Arid4a T C 12: 71,119,507 (GRCm39) probably null Het
Atp2a1 A G 7: 126,049,479 (GRCm39) V521A probably benign Het
Ccdc88c G T 12: 100,883,062 (GRCm39) D1603E probably benign Het
Clec4f T C 6: 83,630,182 (GRCm39) I125M probably benign Het
Dsc1 T C 18: 20,227,679 (GRCm39) I520V probably benign Het
Eomes G A 9: 118,311,334 (GRCm39) A386T probably damaging Het
Gldc C T 19: 30,135,913 (GRCm39) probably null Het
Hectd4 G T 5: 121,445,013 (GRCm39) M1420I probably benign Het
Hmcn1 A T 1: 150,508,303 (GRCm39) probably benign Het
Ighv6-3 G A 12: 114,355,335 (GRCm39) T118I possibly damaging Het
Krt82 A G 15: 101,453,958 (GRCm39) F250S probably damaging Het
Ltb A G 17: 35,413,576 (GRCm39) T27A probably benign Het
Mex3b T A 7: 82,518,911 (GRCm39) S409T probably benign Het
Mki67 A T 7: 135,315,745 (GRCm39) I39N probably damaging Het
Or51a7 A G 7: 102,615,235 (GRCm39) probably benign Het
Palmd A G 3: 116,717,922 (GRCm39) S192P probably damaging Het
Pcdh20 A T 14: 88,704,636 (GRCm39) M888K probably benign Het
Pclo A T 5: 14,731,083 (GRCm39) H3195L unknown Het
Pgm2 A T 5: 64,260,225 (GRCm39) I137F possibly damaging Het
Polq T A 16: 36,837,671 (GRCm39) N194K probably damaging Het
Rmnd1 T C 10: 4,360,793 (GRCm39) probably null Het
Rnf114 T C 2: 167,354,459 (GRCm39) M180T probably damaging Het
Sap30 A G 8: 57,938,123 (GRCm39) F165L possibly damaging Het
Scgb3a2 T A 18: 43,900,059 (GRCm39) probably benign Het
Sftpa1 A T 14: 40,854,527 (GRCm39) N38I probably benign Het
Sumf1 A G 6: 108,152,977 (GRCm39) F137S probably damaging Het
Tln2 C A 9: 67,219,093 (GRCm39) R284L probably damaging Het
Ttn C T 2: 76,570,703 (GRCm39) R26730Q probably damaging Het
Ttn T A 2: 76,540,808 (GRCm39) R25732S probably damaging Het
Tubgcp4 T C 2: 121,004,082 (GRCm39) V41A probably benign Het
Usp53 T A 3: 122,751,367 (GRCm39) Q230L probably damaging Het
Vmn2r57 T C 7: 41,074,467 (GRCm39) E532G probably damaging Het
Vps9d1 G T 8: 123,972,769 (GRCm39) N454K probably damaging Het
Wdr55 T C 18: 36,895,132 (GRCm39) probably null Het
Zfp263 T A 16: 3,566,776 (GRCm39) C76S probably benign Het
Other mutations in Ano1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Ano1 APN 7 144,192,250 (GRCm39) missense probably damaging 1.00
IGL00754:Ano1 APN 7 144,150,968 (GRCm39) missense probably damaging 0.98
IGL00780:Ano1 APN 7 144,209,367 (GRCm39) missense probably damaging 0.99
IGL00918:Ano1 APN 7 144,198,489 (GRCm39) splice site probably benign
IGL01285:Ano1 APN 7 144,198,479 (GRCm39) missense probably benign 0.00
IGL01285:Ano1 APN 7 144,149,275 (GRCm39) missense probably damaging 0.98
IGL01308:Ano1 APN 7 144,149,235 (GRCm39) missense probably damaging 0.99
IGL01407:Ano1 APN 7 144,190,848 (GRCm39) missense probably benign 0.22
IGL01672:Ano1 APN 7 144,209,412 (GRCm39) missense probably damaging 0.96
IGL01920:Ano1 APN 7 144,165,191 (GRCm39) splice site probably benign
IGL01926:Ano1 APN 7 144,164,612 (GRCm39) missense possibly damaging 0.94
IGL02164:Ano1 APN 7 144,190,918 (GRCm39) missense possibly damaging 0.91
IGL02190:Ano1 APN 7 144,172,620 (GRCm39) missense probably benign 0.41
IGL02214:Ano1 APN 7 144,209,445 (GRCm39) missense possibly damaging 0.80
IGL02299:Ano1 APN 7 144,143,812 (GRCm39) missense possibly damaging 0.80
IGL02567:Ano1 APN 7 144,165,362 (GRCm39) missense probably damaging 1.00
IGL03131:Ano1 APN 7 144,157,322 (GRCm39) missense possibly damaging 0.90
IGL03291:Ano1 APN 7 144,175,412 (GRCm39) missense probably damaging 1.00
IGL03299:Ano1 APN 7 144,207,993 (GRCm39) missense probably damaging 1.00
IGL03394:Ano1 APN 7 144,149,176 (GRCm39) splice site probably null
PIT4434001:Ano1 UTSW 7 144,164,632 (GRCm39) missense probably benign 0.28
R0502:Ano1 UTSW 7 144,150,952 (GRCm39) missense probably damaging 1.00
R0595:Ano1 UTSW 7 144,143,890 (GRCm39) missense possibly damaging 0.94
R0732:Ano1 UTSW 7 144,173,225 (GRCm39) critical splice acceptor site probably null
R0970:Ano1 UTSW 7 144,149,308 (GRCm39) missense probably benign 0.02
R0988:Ano1 UTSW 7 144,187,390 (GRCm39) missense possibly damaging 0.94
R1074:Ano1 UTSW 7 144,165,417 (GRCm39) missense probably damaging 0.98
R1301:Ano1 UTSW 7 144,187,426 (GRCm39) missense possibly damaging 0.60
R1528:Ano1 UTSW 7 144,149,303 (GRCm39) missense probably damaging 1.00
R2018:Ano1 UTSW 7 144,207,987 (GRCm39) missense probably damaging 1.00
R2056:Ano1 UTSW 7 144,201,789 (GRCm39) missense probably damaging 1.00
R2057:Ano1 UTSW 7 144,201,789 (GRCm39) missense probably damaging 1.00
R2058:Ano1 UTSW 7 144,201,789 (GRCm39) missense probably damaging 1.00
R2059:Ano1 UTSW 7 144,165,127 (GRCm39) missense probably damaging 1.00
R2860:Ano1 UTSW 7 144,143,749 (GRCm39) missense probably damaging 1.00
R2861:Ano1 UTSW 7 144,143,749 (GRCm39) missense probably damaging 1.00
R3770:Ano1 UTSW 7 144,149,306 (GRCm39) missense probably damaging 1.00
R3970:Ano1 UTSW 7 144,161,700 (GRCm39) missense probably benign 0.00
R4179:Ano1 UTSW 7 144,204,242 (GRCm39) missense probably damaging 1.00
R4489:Ano1 UTSW 7 144,165,479 (GRCm39) missense probably benign 0.00
R4678:Ano1 UTSW 7 144,223,289 (GRCm39) missense probably benign 0.01
R4915:Ano1 UTSW 7 144,165,112 (GRCm39) missense possibly damaging 0.69
R5114:Ano1 UTSW 7 144,210,820 (GRCm39) missense possibly damaging 0.71
R5362:Ano1 UTSW 7 144,202,337 (GRCm39) unclassified probably benign
R5364:Ano1 UTSW 7 144,190,941 (GRCm39) missense probably damaging 1.00
R5366:Ano1 UTSW 7 144,207,946 (GRCm39) missense possibly damaging 0.85
R5387:Ano1 UTSW 7 144,202,356 (GRCm39) missense probably benign
R5762:Ano1 UTSW 7 144,201,774 (GRCm39) missense probably damaging 0.99
R5857:Ano1 UTSW 7 144,190,840 (GRCm39) missense probably benign 0.02
R6091:Ano1 UTSW 7 144,223,171 (GRCm39) missense probably benign 0.12
R6093:Ano1 UTSW 7 144,165,114 (GRCm39) missense possibly damaging 0.72
R6177:Ano1 UTSW 7 144,232,478 (GRCm39) missense possibly damaging 0.79
R6246:Ano1 UTSW 7 144,187,462 (GRCm39) missense possibly damaging 0.82
R6274:Ano1 UTSW 7 144,172,600 (GRCm39) missense probably benign 0.01
R6323:Ano1 UTSW 7 144,165,423 (GRCm39) missense possibly damaging 0.95
R6574:Ano1 UTSW 7 144,161,653 (GRCm39) critical splice donor site probably null
R6782:Ano1 UTSW 7 144,175,424 (GRCm39) missense probably damaging 1.00
R6880:Ano1 UTSW 7 144,198,479 (GRCm39) missense probably benign 0.00
R6909:Ano1 UTSW 7 144,209,468 (GRCm39) missense probably damaging 0.96
R7066:Ano1 UTSW 7 144,190,823 (GRCm39) missense probably benign 0.35
R7073:Ano1 UTSW 7 144,192,289 (GRCm39) missense probably damaging 0.96
R7146:Ano1 UTSW 7 144,209,393 (GRCm39) missense probably benign 0.00
R7420:Ano1 UTSW 7 144,209,378 (GRCm39) missense probably benign 0.00
R7874:Ano1 UTSW 7 144,175,461 (GRCm39) missense probably damaging 1.00
R8468:Ano1 UTSW 7 144,209,357 (GRCm39) missense probably damaging 1.00
R8867:Ano1 UTSW 7 144,223,397 (GRCm39) missense possibly damaging 0.66
R8923:Ano1 UTSW 7 144,204,288 (GRCm39) missense possibly damaging 0.61
R9215:Ano1 UTSW 7 144,149,342 (GRCm39) missense probably damaging 1.00
R9281:Ano1 UTSW 7 144,149,318 (GRCm39) missense probably damaging 1.00
R9572:Ano1 UTSW 7 144,204,293 (GRCm39) critical splice acceptor site probably null
R9668:Ano1 UTSW 7 144,164,579 (GRCm39) critical splice donor site probably null
R9681:Ano1 UTSW 7 144,143,893 (GRCm39) missense possibly damaging 0.68
R9756:Ano1 UTSW 7 144,162,666 (GRCm39) missense probably benign 0.45
R9780:Ano1 UTSW 7 144,209,358 (GRCm39) missense probably damaging 1.00
R9792:Ano1 UTSW 7 144,175,434 (GRCm39) missense probably damaging 1.00
R9793:Ano1 UTSW 7 144,175,434 (GRCm39) missense probably damaging 1.00
R9795:Ano1 UTSW 7 144,175,434 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21