Incidental Mutation 'R2057:Ano1'
ID 228263
Institutional Source Beutler Lab
Gene Symbol Ano1
Ensembl Gene ENSMUSG00000031075
Gene Name anoctamin 1, calcium activated chloride channel
Synonyms Tmem16a
MMRRC Submission 040062-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2057 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 144142286-144305711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144201789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 334 (V334A)
Ref Sequence ENSEMBL: ENSMUSP00000113899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033393] [ENSMUST00000118556] [ENSMUST00000121758] [ENSMUST00000155175]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033393
AA Change: V276A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: V276A

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: V334A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: V334A

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: V333A

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: V333A

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: V163A
SMART Domains Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: V163A

DomainStartEndE-ValueType
Pfam:Anoct_dimer 2 205 4.4e-64 PFAM
Pfam:Anoctamin 208 335 3e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155175
SMART Domains Protein: ENSMUSP00000120306
Gene: ENSMUSG00000031075

DomainStartEndE-ValueType
low complexity region 153 171 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208985
Meta Mutation Damage Score 0.3632 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,806,477 (GRCm39) K764E probably damaging Het
Abcg2 T C 6: 58,667,525 (GRCm39) V129A probably benign Het
Adgrf5 A G 17: 43,739,477 (GRCm39) Y72C possibly damaging Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Apob A T 12: 8,052,164 (GRCm39) R1202* probably null Het
Arfgap3 G T 15: 83,194,501 (GRCm39) D389E probably benign Het
Atf6b A T 17: 34,867,549 (GRCm39) probably null Het
Atoh8 T C 6: 72,212,112 (GRCm39) K13E probably damaging Het
Bicral G T 17: 47,135,814 (GRCm39) N465K possibly damaging Het
Bves T A 10: 45,219,231 (GRCm39) Y110N probably damaging Het
C4b A G 17: 34,947,594 (GRCm39) Y1695H probably damaging Het
Cage1 A G 13: 38,207,356 (GRCm39) V163A probably benign Het
Canx T C 11: 50,195,252 (GRCm39) N272S probably damaging Het
Caskin1 G T 17: 24,715,433 (GRCm39) G93V probably damaging Het
Cd34 T C 1: 194,641,450 (GRCm39) V292A probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdh16 C A 8: 105,348,597 (GRCm39) G144* probably null Het
Chaf1b T A 16: 93,691,795 (GRCm39) H280Q probably damaging Het
Chpf2 G A 5: 24,796,220 (GRCm39) G389R probably damaging Het
Crb1 T C 1: 139,242,488 (GRCm39) Y330C probably damaging Het
Cux2 A T 5: 122,007,567 (GRCm39) V698E probably benign Het
Dhtkd1 A G 2: 5,947,430 (GRCm39) V18A unknown Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Enpp1 C G 10: 24,536,090 (GRCm39) A437P probably damaging Het
Fat2 C T 11: 55,172,686 (GRCm39) V2676I possibly damaging Het
Fzd2 A G 11: 102,496,759 (GRCm39) D401G probably damaging Het
Gcm2 T C 13: 41,263,430 (GRCm39) M1V probably null Het
Gnai3 C T 3: 108,019,812 (GRCm39) V233I probably benign Het
Golim4 T A 3: 75,802,194 (GRCm39) D366V possibly damaging Het
Grin1 T A 2: 25,206,832 (GRCm39) T110S probably damaging Het
Grin2a A G 16: 9,487,608 (GRCm39) V430A probably benign Het
Gstp3 G A 19: 4,109,282 (GRCm39) T5I probably damaging Het
Il17rb T A 14: 29,719,111 (GRCm39) M324L probably benign Het
Jmy A G 13: 93,596,211 (GRCm39) Y473H probably damaging Het
Khdc1b A G 1: 21,454,534 (GRCm39) D79G probably benign Het
Kremen2 T C 17: 23,961,691 (GRCm39) E272G possibly damaging Het
Lmo7 G C 14: 102,124,614 (GRCm39) A358P probably damaging Het
Mdh1b T C 1: 63,760,741 (GRCm39) I107V probably benign Het
Mlkl T C 8: 112,060,242 (GRCm39) Q48R probably benign Het
Myh2 G A 11: 67,079,665 (GRCm39) probably null Het
Naip1 T A 13: 100,562,081 (GRCm39) Q1028L probably damaging Het
Ncald T A 15: 37,397,423 (GRCm39) I86F possibly damaging Het
Nid1 A C 13: 13,675,058 (GRCm39) H926P probably benign Het
Nlrp9a T A 7: 26,256,787 (GRCm39) I46K possibly damaging Het
Or1p1 A G 11: 74,179,652 (GRCm39) Y60C probably damaging Het
Or9r3 A T 10: 129,947,859 (GRCm39) S267T probably benign Het
Pak1 T A 7: 97,557,004 (GRCm39) probably null Het
Parpbp T A 10: 87,960,824 (GRCm39) M221L probably benign Het
Pde12 T C 14: 26,390,035 (GRCm39) I225V probably benign Het
Phf19 G T 2: 34,789,620 (GRCm39) R367S probably benign Het
Plcl2 A G 17: 50,975,139 (GRCm39) probably null Het
Plxnb1 A T 9: 108,938,294 (GRCm39) I1283F possibly damaging Het
Pramel6 T A 2: 87,339,059 (GRCm39) N86K possibly damaging Het
Prkdc A G 16: 15,545,469 (GRCm39) T1862A probably benign Het
Prpf40a A T 2: 53,034,851 (GRCm39) I779K probably damaging Het
Prss3b G A 6: 41,009,315 (GRCm39) T173I probably benign Het
Ptpn20 A T 14: 33,352,942 (GRCm39) E227V probably damaging Het
Rad54b C T 4: 11,606,088 (GRCm39) R499C probably benign Het
Rarg C A 15: 102,147,939 (GRCm39) A291S probably damaging Het
Rnf169 A T 7: 99,574,615 (GRCm39) L660Q probably damaging Het
Scn4a A G 11: 106,226,550 (GRCm39) V670A probably damaging Het
Serpinb9c A T 13: 33,340,854 (GRCm39) C81* probably null Het
Sik1 A G 17: 32,067,771 (GRCm39) S435P probably benign Het
Slc35g2 G A 9: 100,435,329 (GRCm39) A114V probably damaging Het
Slc7a14 A T 3: 31,291,645 (GRCm39) V211E probably damaging Het
Snrpn A T 7: 59,637,204 (GRCm39) H37Q possibly damaging Het
Spock3 T A 8: 63,698,204 (GRCm39) C185* probably null Het
Tbc1d4 A G 14: 101,714,591 (GRCm39) S627P probably damaging Het
Tgoln1 T C 6: 72,592,653 (GRCm39) T276A probably benign Het
Tmem176b G A 6: 48,813,267 (GRCm39) T64I probably damaging Het
Tnpo2 T C 8: 85,776,742 (GRCm39) L483P probably damaging Het
Tpte T A 8: 22,808,355 (GRCm39) D163E probably benign Het
Trim36 A T 18: 46,329,229 (GRCm39) D70E probably benign Het
Umodl1 G A 17: 31,227,740 (GRCm39) probably null Het
Wdr90 T C 17: 26,074,173 (GRCm39) T691A probably benign Het
Zdhhc8 A G 16: 18,046,210 (GRCm39) S118P probably damaging Het
Zfp438 T C 18: 5,214,085 (GRCm39) E291G probably benign Het
Zfp879 C T 11: 50,723,428 (GRCm39) E543K 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
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
Predicted Primers PCR Primer
(F):5'- AGCCAAAACTGCCCTGTGTG -3'
(R):5'- AGTGGATAGCTAACTCGCCC -3'

Sequencing Primer
(F):5'- AAAACTGCCCTGTGTGTGACTTTTC -3'
(R):5'- GATAGCTAACTCGCCCTGCTG -3'
Posted On 2014-09-17