Incidental Mutation 'R7146:Ano1'
ID 553794
Institutional Source Beutler Lab
Gene Symbol Ano1
Ensembl Gene ENSMUSG00000031075
Gene Name anoctamin 1, calcium activated chloride channel
Synonyms Tmem16a
MMRRC Submission 045251-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7146 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 144142286-144305711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144209393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 269 (H269R)
Ref Sequence ENSEMBL: ENSMUSP00000112616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033393] [ENSMUST00000118556] [ENSMUST00000121758] [ENSMUST00000131731] [ENSMUST00000155175]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033393
AA Change: H212R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: H212R

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: H270R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: H270R

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: H269R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: H269R

DomainStartEndE-ValueType
Pfam:Anoct_dimer 54 317 7.1e-83 PFAM
Pfam:Anoctamin 320 901 2.2e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131731
AA Change: H212R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118206
Gene: ENSMUSG00000031075
AA Change: H212R

DomainStartEndE-ValueType
low complexity region 129 147 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: H77R

DomainStartEndE-ValueType
Pfam:Anoct_dimer 2 205 4.4e-64 PFAM
Pfam:Anoctamin 208 335 3e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155175
AA Change: H236R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000120306
Gene: ENSMUSG00000031075
AA Change: H236R

DomainStartEndE-ValueType
low complexity region 153 171 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 95% (99/104)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,854,520 (GRCm39) I895F probably benign Het
Abca16 A G 7: 120,126,974 (GRCm39) N1222D possibly damaging Het
Abcc4 A T 14: 118,852,593 (GRCm39) Y499N probably damaging Het
Adgrg7 A C 16: 56,550,605 (GRCm39) C702W probably damaging Het
Adk C A 14: 21,376,682 (GRCm39) P27H Het
Ankrd13a T C 5: 114,913,293 (GRCm39) S2P probably damaging Het
Aox3 T A 1: 58,197,688 (GRCm39) probably null Het
Asl G A 5: 130,053,290 (GRCm39) probably benign Het
Asxl2 A T 12: 3,507,066 (GRCm39) D86V probably damaging Het
Ate1 A T 7: 130,083,508 (GRCm39) probably null Het
Bach2 A G 4: 32,562,670 (GRCm39) D379G probably damaging Het
Bdkrb1 T A 12: 105,571,142 (GRCm39) L236Q probably damaging Het
Cacna2d3 T C 14: 29,443,654 (GRCm39) Y24C unknown Het
Cage1 G T 13: 38,207,025 (GRCm39) N273K probably benign Het
Ccdc51 T A 9: 108,920,848 (GRCm39) I245N probably damaging Het
Cep152 T C 2: 125,456,325 (GRCm39) I229V probably benign Het
Chst4 T A 8: 110,757,363 (GRCm39) S167C probably damaging Het
Cntnap4 A T 8: 113,537,268 (GRCm39) Y713F probably damaging Het
Cntnap5b G A 1: 99,978,519 (GRCm39) probably null Het
Cog8 G T 8: 107,779,005 (GRCm39) T424K possibly damaging Het
Cop1 T G 1: 159,071,922 (GRCm39) probably null Het
Cyp2j6 A G 4: 96,434,019 (GRCm39) I97T probably damaging Het
D430041D05Rik T C 2: 104,088,698 (GRCm39) T131A probably benign Het
Dnah17 T C 11: 117,972,936 (GRCm39) D1999G probably damaging Het
Dnah8 A G 17: 30,863,591 (GRCm39) D250G probably benign Het
Dnah8 T C 17: 30,988,618 (GRCm39) V3196A possibly damaging Het
Dscam A T 16: 96,631,117 (GRCm39) Y299* probably null Het
Efcab3 A G 11: 104,858,578 (GRCm39) N3879S unknown Het
Efcab3 A C 11: 104,913,764 (GRCm39) D4594A probably benign Het
Ephb1 A G 9: 101,841,157 (GRCm39) S774P probably damaging Het
Fat1 G A 8: 45,403,962 (GRCm39) V238I probably benign Het
Fermt1 C T 2: 132,776,785 (GRCm39) M234I probably benign Het
Fmnl2 C T 2: 52,958,552 (GRCm39) S212L Het
Frem1 T C 4: 82,840,532 (GRCm39) N1798S possibly damaging Het
Gabrd T A 4: 155,469,863 (GRCm39) M449L probably benign Het
Gad1 T C 2: 70,417,706 (GRCm39) F302L probably benign Het
Gm10800 A AC 2: 98,497,378 (GRCm39) probably null Het
Gm21886 GGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGTAAATAGTAGGTGCTCACTGAGGCCTGTAGACAGTAGGTGCTCA GGGCCTGTAGACAGTAGGTGCTCA 18: 80,132,697 (GRCm39) probably benign Het
Gnb3 C T 6: 124,813,887 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,271,993 (GRCm39) M642K possibly damaging Het
Hps3 A T 3: 20,063,050 (GRCm39) W838R probably damaging Het
Ide A T 19: 37,273,343 (GRCm39) W527R Het
Ighe A T 12: 113,235,975 (GRCm39) I117N Het
Ighv1-50 T C 12: 115,083,396 (GRCm39) E108G probably benign Het
Ivl G A 3: 92,479,538 (GRCm39) P176S probably damaging Het
Lamb2 T A 9: 108,361,283 (GRCm39) L605Q possibly damaging Het
Lgi3 G A 14: 70,770,832 (GRCm39) R157H probably damaging Het
Lrp1b G T 2: 41,266,006 (GRCm39) C1053* probably null Het
Mcpt9 A T 14: 56,264,445 (GRCm39) S217T probably damaging Het
Mgat4c T G 10: 102,224,357 (GRCm39) N190K probably damaging Het
Mknk1 T A 4: 115,721,789 (GRCm39) V111D probably damaging Het
Mmp11 T C 10: 75,764,280 (GRCm39) T62A probably benign Het
Mmp1b C A 9: 7,385,014 (GRCm39) V212F probably damaging Het
Mmp7 A G 9: 7,697,587 (GRCm39) probably null Het
Muc5b C T 7: 141,417,704 (GRCm39) T3550M possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nphp3 A T 9: 103,882,036 (GRCm39) K169* probably null Het
Npy6r G T 18: 44,408,788 (GRCm39) V70F probably benign Het
Nsun2 T A 13: 69,774,672 (GRCm39) probably null Het
Oplah T A 15: 76,186,860 (GRCm39) I652F probably benign Het
Pcdh18 T C 3: 49,710,271 (GRCm39) N348S probably damaging Het
Pcdhb5 T A 18: 37,454,409 (GRCm39) V263D probably damaging Het
Pcdhga1 C A 18: 37,795,164 (GRCm39) T56N probably benign Het
Pdk4 A G 6: 5,491,068 (GRCm39) probably null Het
Pfkp C A 13: 6,652,817 (GRCm39) V434F probably benign Het
Phospho1 G A 11: 95,721,732 (GRCm39) R134H probably damaging Het
Polg2 G T 11: 106,663,572 (GRCm39) Q374K probably benign Het
Ptpra T C 2: 130,379,571 (GRCm39) probably null Het
Rassf3 C T 10: 121,252,052 (GRCm39) E120K probably benign Het
Reln A T 5: 22,311,095 (GRCm39) S273T probably damaging Het
Scarb1 C T 5: 125,361,089 (GRCm39) A133T probably benign Het
Scn3a T A 2: 65,313,486 (GRCm39) K1142N probably damaging Het
Sema3c G A 5: 17,899,701 (GRCm39) V398I probably benign Het
Serpine1 C A 5: 137,099,918 (GRCm39) Q80H probably damaging Het
Sh3gl1 G A 17: 56,324,646 (GRCm39) T334M probably damaging Het
Smg7 T C 1: 152,737,576 (GRCm39) N122D probably benign Het
Speer4b T C 5: 27,703,708 (GRCm39) I144V probably benign Het
Spire2 T A 8: 124,095,989 (GRCm39) D671E probably benign Het
Sspo A T 6: 48,478,029 (GRCm39) H5144L probably benign Het
Sstr2 A T 11: 113,516,179 (GRCm39) Q366L probably damaging Het
Ssu72 T C 4: 155,815,850 (GRCm39) F98S probably damaging Het
Syde2 C T 3: 145,712,870 (GRCm39) Q1003* probably null Het
Tapbp G A 17: 34,144,461 (GRCm39) A186T possibly damaging Het
Tcf12 T A 9: 71,790,385 (GRCm39) probably null Het
Tnfrsf22 A T 7: 143,194,556 (GRCm39) C124S probably damaging Het
Txlnb A T 10: 17,703,546 (GRCm39) T235S possibly damaging Het
Uaca T C 9: 60,777,695 (GRCm39) L694P probably damaging Het
Unc13a T A 8: 72,083,197 (GRCm39) N1620Y probably damaging Het
Vmn2r10 C T 5: 109,151,200 (GRCm39) C138Y probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r28 T A 7: 5,484,495 (GRCm39) E568D probably benign Het
Vmn2r57 A T 7: 41,097,895 (GRCm39) H57Q possibly damaging Het
Vwa5b1 A G 4: 138,308,923 (GRCm39) S756P probably benign Het
Washc5 C A 15: 59,224,350 (GRCm39) E470* probably null Het
Xpot A T 10: 121,442,678 (GRCm39) V508D probably damaging Het
Zfp616 A T 11: 73,976,087 (GRCm39) K785N possibly damaging Het
Zfp653 T C 9: 21,977,195 (GRCm39) N119D probably damaging Het
Zfp729b A G 13: 67,741,495 (GRCm39) S257P probably damaging Het
Zfp82 T A 7: 29,755,592 (GRCm39) T497S probably benign Het
Znrf4 T G 17: 56,819,305 (GRCm39) M1L 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
IGL01112:Ano1 APN 7 144,190,882 (GRCm39) missense possibly damaging 0.52
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
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
Predicted Primers PCR Primer
(F):5'- AGGCAAAATTCTGCAATCCCTC -3'
(R):5'- TCTCGCCAGCCAAGAATAGG -3'

Sequencing Primer
(F):5'- GCAAAATTCTGCAATCCCTCTCTCC -3'
(R):5'- CCTCGCAGTTTATGGAGATACAGC -3'
Posted On 2019-05-15