Incidental Mutation 'R8867:Ano1'
ID 676015
Institutional Source Beutler Lab
Gene Symbol Ano1
Ensembl Gene ENSMUSG00000031075
Gene Name anoctamin 1, calcium activated chloride channel
Synonyms Tmem16a
MMRRC Submission 068682-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8867 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 144142286-144305711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144223397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 99 (S99P)
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 possibly damaging
Transcript: ENSMUST00000033393
AA Change: S42P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: S42P

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: S100P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: S100P

DomainStartEndE-ValueType
Pfam:Anoct_dimer 112 375 5.5e-83 PFAM
Pfam:Anoctamin 378 955 6.7e-140 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121758
AA Change: S99P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: S99P

DomainStartEndE-ValueType
Pfam:Anoct_dimer 54 317 7.1e-83 PFAM
Pfam:Anoctamin 320 901 2.2e-139 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131731
AA Change: S42P

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118206
Gene: ENSMUSG00000031075
AA Change: S42P

DomainStartEndE-ValueType
low complexity region 129 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152531
SMART Domains Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075

DomainStartEndE-ValueType
Pfam:Anoct_dimer 2 205 4.4e-64 PFAM
Pfam:Anoctamin 208 335 3e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155175
AA Change: S66P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120306
Gene: ENSMUSG00000031075
AA Change: S66P

DomainStartEndE-ValueType
low complexity region 153 171 N/A INTRINSIC
Meta Mutation Damage Score 0.1786 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (78/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik G A 4: 73,861,087 (GRCm39) S171F probably damaging Het
A130010J15Rik T C 1: 192,857,406 (GRCm39) S253P probably damaging Het
Acbd5 T C 2: 22,970,370 (GRCm39) M97T possibly damaging Het
Aire T C 10: 77,873,809 (GRCm39) E300G probably damaging Het
Ap5z1 A G 5: 142,463,011 (GRCm39) N732D probably benign Het
Apcs A T 1: 172,722,004 (GRCm39) L114Q possibly damaging Het
Apmap T C 2: 150,431,886 (GRCm39) probably benign Het
Ark2c T C 18: 77,563,182 (GRCm39) E159G possibly damaging Het
Asxl3 C A 18: 22,649,547 (GRCm39) T512N possibly damaging Het
Atp1a4 T C 1: 172,072,491 (GRCm39) T388A probably damaging Het
B3galt9 A G 2: 34,728,636 (GRCm39) D145G probably damaging Het
Bcl2a1a A T 9: 88,839,503 (GRCm39) I134L probably damaging Het
Chd6 G A 2: 160,862,989 (GRCm39) A444V probably benign Het
Cmbl C A 15: 31,582,073 (GRCm39) H23Q probably benign Het
Cnnm2 T A 19: 46,750,996 (GRCm39) I262N probably damaging Het
Col6a3 C T 1: 90,715,673 (GRCm39) R2260H unknown Het
Cracr2a T A 6: 127,606,736 (GRCm39) L260* probably null Het
Csmd2 A G 4: 128,451,469 (GRCm39) Y3409C Het
Cyp4b1 C T 4: 115,493,169 (GRCm39) R225H possibly damaging Het
Dcdc2a C T 13: 25,386,266 (GRCm39) A380V probably benign Het
Dnah6 A G 6: 72,998,131 (GRCm39) L4097P probably damaging Het
Dppa3 G A 6: 122,605,602 (GRCm39) R52Q probably benign Het
Fbxo31 C T 8: 122,281,967 (GRCm39) R311H probably benign Het
Fhad1 T C 4: 141,656,885 (GRCm39) R90G probably damaging Het
Fitm2 A T 2: 163,311,602 (GRCm39) W204R possibly damaging Het
Gatb T A 3: 85,511,716 (GRCm39) L157H probably damaging Het
Gm5111 G A 6: 48,566,629 (GRCm39) probably null Het
Gm7298 A C 6: 121,748,788 (GRCm39) I688L probably benign Het
Hecw1 T C 13: 14,422,275 (GRCm39) probably null Het
Ift122 T A 6: 115,857,632 (GRCm39) V126E probably damaging Het
Iqcf6 A T 9: 106,504,698 (GRCm39) I121F possibly damaging Het
Kif21a A G 15: 90,852,382 (GRCm39) V902A probably damaging Het
Klhl38 T C 15: 58,178,435 (GRCm39) M512V probably benign Het
Klk1b1 A C 7: 43,619,747 (GRCm39) N102T probably damaging Het
Lama4 T A 10: 38,923,996 (GRCm39) L468Q probably damaging Het
Lilra5 A T 7: 4,241,165 (GRCm39) Q34L possibly damaging Het
Lrrc7 T A 3: 157,867,521 (GRCm39) D740V probably damaging Het
Mapk7 G T 11: 61,384,632 (GRCm39) P25T probably benign Het
Mcm3ap C A 10: 76,306,538 (GRCm39) A217D probably benign Het
Mucl3 A T 17: 35,948,872 (GRCm39) F242L probably benign Het
Ncaph2 A G 15: 89,254,605 (GRCm39) E406G probably benign Het
Ncor2 T C 5: 125,179,739 (GRCm39) I69V unknown Het
Nfatc3 A G 8: 106,805,640 (GRCm39) S170G probably damaging Het
Nptn G A 9: 58,526,264 (GRCm39) R137Q probably damaging Het
Nsd1 A T 13: 55,430,570 (GRCm39) K1581N probably damaging Het
Or1q1 T C 2: 36,887,691 (GRCm39) Y290H probably damaging Het
Or2t43 A G 11: 58,457,562 (GRCm39) L203P probably damaging Het
Or51l4 G A 7: 103,403,893 (GRCm39) Q300* probably null Het
Or52ab2 T A 7: 102,970,449 (GRCm39) L277Q Het
Or5be3 G T 2: 86,863,803 (GRCm39) T254K probably damaging Het
Or6c211 A T 10: 129,505,628 (GRCm39) C253* probably null Het
Pdcl T C 2: 37,242,348 (GRCm39) E134G probably damaging Het
Pikfyve T A 1: 65,283,576 (GRCm39) Y738N probably damaging Het
Pkd1 A G 17: 24,792,807 (GRCm39) D1498G probably damaging Het
Plxna1 T C 6: 89,310,079 (GRCm39) N1029D probably benign Het
Ppp3cb C A 14: 20,596,517 (GRCm39) probably benign Het
Prkn A G 17: 11,456,448 (GRCm39) T91A probably benign Het
Rgs18 T A 1: 144,629,698 (GRCm39) D187V probably damaging Het
Ripor2 C T 13: 24,822,760 (GRCm39) probably benign Het
Rpl3l G A 17: 24,954,455 (GRCm39) G172D probably damaging Het
Sdf4 A G 4: 156,093,759 (GRCm39) T298A probably damaging Het
Skic3 C T 13: 76,279,428 (GRCm39) S620L probably damaging Het
Slc17a3 T C 13: 24,039,943 (GRCm39) V327A Het
Slc4a1ap T A 5: 31,708,059 (GRCm39) F677L probably benign Het
Stoml2 A G 4: 43,028,256 (GRCm39) V324A probably benign Het
Syne2 A G 12: 75,989,620 (GRCm39) Q1833R probably damaging Het
Syt6 A G 3: 103,534,371 (GRCm39) N481D possibly damaging Het
Tert T C 13: 73,776,566 (GRCm39) M439T probably benign Het
Thsd7a A T 6: 12,338,686 (GRCm39) D1181E Het
Tln2 G A 9: 67,237,832 (GRCm39) T33I probably damaging Het
Top3a A G 11: 60,633,481 (GRCm39) S872P probably benign Het
Trim10 T C 17: 37,181,048 (GRCm39) L93P probably benign Het
Trpc7 C T 13: 57,008,746 (GRCm39) S307N probably benign Het
Ttn A T 2: 76,640,427 (GRCm39) V13727E probably damaging Het
Vmn1r220 T C 13: 23,368,271 (GRCm39) S142G probably benign Het
Vmn1r32 A G 6: 66,530,651 (GRCm39) S42P probably damaging Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfp683 C T 4: 133,785,995 (GRCm39) T374I probably damaging 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
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
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'- TCCCGTCTGAAGCGTTTGTC -3'
(R):5'- TGAACACATGGGTCAGTGAG -3'

Sequencing Primer
(F):5'- ACTTCCGGTGAGCCTGCATC -3'
(R):5'- TGCAGGCATGAATAAACATGTTG -3'
Posted On 2021-07-15