Incidental Mutation 'R9795:Ano1'
ID 734883
Institutional Source Beutler Lab
Gene Symbol Ano1
Ensembl Gene ENSMUSG00000031075
Gene Name anoctamin 1, calcium activated chloride channel
Synonyms Tmem16a
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9795 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 144142286-144305711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 144175434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 495 (W495R)
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 damaging
Transcript: ENSMUST00000033393
AA Change: W438R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: W438R

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: W496R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: W496R

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: W495R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: W495R

DomainStartEndE-ValueType
Pfam:Anoct_dimer 54 317 7.1e-83 PFAM
Pfam:Anoctamin 320 901 2.2e-139 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152531
AA Change: W325R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: W325R

DomainStartEndE-ValueType
Pfam:Anoct_dimer 2 205 4.4e-64 PFAM
Pfam:Anoctamin 208 335 3e-36 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.6%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C T 15: 94,301,180 (GRCm39) G115R possibly damaging Het
Adgrl3 T C 5: 81,837,421 (GRCm39) V701A probably damaging Het
Afap1l1 T C 18: 61,874,822 (GRCm39) D453G possibly damaging Het
Apc T A 18: 34,447,628 (GRCm39) L1508Q probably damaging Het
Bbs12 C T 3: 37,374,224 (GRCm39) T224I possibly damaging Het
Cald1 A T 6: 34,723,071 (GRCm39) M52L Het
Calhm6 T C 10: 34,002,544 (GRCm39) I180V probably damaging Het
Ccdc9b T C 2: 118,587,784 (GRCm39) S517G unknown Het
Cdk12 T A 11: 98,102,051 (GRCm39) D636E unknown Het
Cfap53 A G 18: 74,438,741 (GRCm39) D306G probably benign Het
Cntnap4 T C 8: 113,608,357 (GRCm39) V1259A probably benign Het
Cntnap5c A T 17: 58,409,192 (GRCm39) T477S probably benign Het
Epha3 T C 16: 63,372,910 (GRCm39) E931G probably benign Het
Foxred1 CGGG CGG 9: 35,122,152 (GRCm39) probably null Het
Gstt1 T C 10: 75,634,391 (GRCm39) probably benign Het
Hao1 T A 2: 134,372,552 (GRCm39) Y152F possibly damaging Het
Hcn4 C T 9: 58,760,762 (GRCm39) Q436* probably null Het
Hmcn1 G A 1: 150,608,689 (GRCm39) P1498S possibly damaging Het
Igkv4-79 A G 6: 69,020,169 (GRCm39) S49P probably damaging Het
Krt73 C A 15: 101,710,725 (GRCm39) R3L probably damaging Het
Lrriq3 T C 3: 154,893,313 (GRCm39) M338T probably benign Het
Ltbp2 A T 12: 84,876,128 (GRCm39) I493N probably damaging Het
Ly6e G T 15: 74,830,390 (GRCm39) C80F probably damaging Het
Map1a T C 2: 121,121,304 (GRCm39) probably null Het
Mitf A G 6: 97,970,143 (GRCm39) H137R probably benign Het
Nr1h4 T G 10: 89,314,651 (GRCm39) T286P probably benign Het
Nsd2 A G 5: 34,003,489 (GRCm39) D213G possibly damaging Het
Nuggc T C 14: 65,847,345 (GRCm39) S131P probably damaging Het
Nwd2 A G 5: 63,964,232 (GRCm39) E1272G probably damaging Het
Or2y1 A T 11: 49,385,882 (GRCm39) N174I probably damaging Het
Or4a78 T C 2: 89,497,811 (GRCm39) I140V probably benign Het
Or4f14c T C 2: 111,941,330 (GRCm39) H89R probably benign Het
Or5ac17 T A 16: 59,036,938 (GRCm39) I13F possibly damaging Het
Or5p79 A G 7: 108,221,869 (GRCm39) I283M probably benign Het
Or7e170 T A 9: 19,795,347 (GRCm39) M85L probably benign Het
Or7g32 T C 9: 19,408,412 (GRCm39) Y123H probably damaging Het
Or8h9 T A 2: 86,789,119 (GRCm39) I228F probably damaging Het
Pacsin3 C A 2: 91,094,160 (GRCm39) A363D probably benign Het
Pcdh17 C T 14: 84,770,350 (GRCm39) R943* probably null Het
Pkhd1l1 T C 15: 44,406,983 (GRCm39) S2407P probably benign Het
Ppip5k2 A T 1: 97,671,822 (GRCm39) Y489* probably null Het
Qrich1 T A 9: 108,411,089 (GRCm39) S205T probably benign Het
Rasgrp1 T C 2: 117,118,429 (GRCm39) D520G probably benign Het
Rbm20 C A 19: 53,852,551 (GRCm39) T1177K probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Sel1l3 C A 5: 53,329,924 (GRCm39) R477L probably benign Het
Slc27a3 C T 3: 90,296,875 (GRCm39) W32* probably null Het
Slc5a8 T C 10: 88,757,591 (GRCm39) I527T possibly damaging Het
Slc6a7 C A 18: 61,138,866 (GRCm39) R214L probably benign Het
Stx7 T C 10: 24,057,475 (GRCm39) L167P probably damaging Het
Sult1d1 T A 5: 87,712,655 (GRCm39) N63I probably damaging Het
Ttc23l T A 15: 10,537,731 (GRCm39) I180F probably benign Het
Usp31 A G 7: 121,247,499 (GRCm39) S1315P probably benign Het
Usp9y T C Y: 1,364,679 (GRCm39) M1045V probably benign Het
Vmn2r118 T C 17: 55,899,496 (GRCm39) T803A probably damaging Het
Vmn2r97 T A 17: 19,167,561 (GRCm39) V605D probably damaging Het
Wdr26 A G 1: 181,036,812 (GRCm39) F143S probably damaging Het
Zfp51 T G 17: 21,682,051 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- GGTAGATGGAAAACGGTTGCCC -3'
(R):5'- AACACTTGTGCCCCAGAGTC -3'

Sequencing Primer
(F):5'- GCCCTGGCAACTGAGGAATAC -3'
(R):5'- TCCTCATCTGCAAAGTGGG -3'
Posted On 2022-11-14