Incidental Mutation 'R2058:Ano1'
ID 228372
Institutional Source Beutler Lab
Gene Symbol Ano1
Ensembl Gene ENSMUSG00000031075
Gene Name anoctamin 1, calcium activated chloride channel
Synonyms Tmem16a
MMRRC Submission 040063-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2058 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 144588549-144751974 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144648052 bp (GRCm38)
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: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 99% (94/95)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A T 8: 24,672,066 (GRCm38) probably benign Het
Adgrf5 A G 17: 43,428,586 (GRCm38) Y72C possibly damaging Het
Alas1 T C 9: 106,241,290 (GRCm38) E211G probably damaging Het
Alkbh1 C T 12: 87,443,750 (GRCm38) probably benign Het
Arhgap18 C T 10: 26,854,908 (GRCm38) T122I probably benign Het
Arhgef4 A G 1: 34,722,377 (GRCm38) K238R unknown Het
Atf6b A T 17: 34,648,575 (GRCm38) probably null Het
Atp2a1 G A 7: 126,447,672 (GRCm38) A847V possibly damaging Het
Baz1b T A 5: 135,217,225 (GRCm38) N509K probably benign Het
BC051076 A T 5: 87,963,985 (GRCm38) noncoding transcript Het
Cage1 A G 13: 38,023,380 (GRCm38) V163A probably benign Het
Canx T C 11: 50,304,425 (GRCm38) N272S probably damaging Het
Cd302 T A 2: 60,252,423 (GRCm38) I186F possibly damaging Het
Cd84 A G 1: 171,872,750 (GRCm38) T145A possibly damaging Het
Cep112 T A 11: 108,519,261 (GRCm38) probably null Het
Cmtm4 A C 8: 104,355,288 (GRCm38) F156V probably damaging Het
Col4a1 T A 8: 11,210,792 (GRCm38) D1330V probably damaging Het
Ctsa T G 2: 164,834,902 (GRCm38) M136R probably null Het
Cyp2d10 T A 15: 82,403,814 (GRCm38) I363F probably damaging Het
Dmbt1 G A 7: 131,106,170 (GRCm38) A1381T possibly damaging Het
Dmwd T A 7: 19,080,727 (GRCm38) L434Q probably damaging Het
Fat4 T A 3: 38,891,170 (GRCm38) M1404K possibly damaging Het
Gcc2 T A 10: 58,285,957 (GRCm38) S1102T probably benign Het
Gcm2 T C 13: 41,109,954 (GRCm38) M1V probably null Het
Gna14 G C 19: 16,608,141 (GRCm38) probably benign Het
Gsk3b T A 16: 38,187,909 (GRCm38) D192E probably benign Het
Gulo A G 14: 65,991,159 (GRCm38) V270A possibly damaging Het
Hps5 T A 7: 46,768,051 (GRCm38) D904V probably damaging Het
Il7 A T 3: 7,573,915 (GRCm38) N130K probably damaging Het
Jak3 A T 8: 71,685,383 (GRCm38) probably null Het
Klhl6 T G 16: 19,982,931 (GRCm38) T25P probably benign Het
Kremen2 T C 17: 23,742,717 (GRCm38) E272G possibly damaging Het
Map3k21 A G 8: 125,938,722 (GRCm38) K550R probably benign Het
Mphosph10 T A 7: 64,376,751 (GRCm38) L650F probably damaging Het
Mrpl48 T C 7: 100,549,333 (GRCm38) E204G probably damaging Het
Msh5 A C 17: 35,029,756 (GRCm38) V738G probably damaging Het
Mybph G A 1: 134,200,119 (GRCm38) C473Y probably damaging Het
Nid1 A C 13: 13,500,473 (GRCm38) H926P probably benign Het
Nlrp9a T A 7: 26,557,362 (GRCm38) I46K possibly damaging Het
Notch3 T C 17: 32,143,644 (GRCm38) T1336A probably benign Het
Nsun4 T C 4: 116,053,680 (GRCm38) probably null Het
Olfr1023 A T 2: 85,886,952 (GRCm38) T51S possibly damaging Het
Olfr390 A G 11: 73,787,274 (GRCm38) N112S probably benign Het
Osgin1 A G 8: 119,445,673 (GRCm38) D402G possibly damaging Het
Patl1 A G 19: 11,932,147 (GRCm38) E479G possibly damaging Het
Pbsn T C X: 77,847,976 (GRCm38) K72E probably damaging Het
Pcdhb13 A G 18: 37,444,567 (GRCm38) Q666R possibly damaging Het
Pi4k2b G A 5: 52,750,680 (GRCm38) V131I probably benign Het
Pkn2 G A 3: 142,853,471 (GRCm38) H98Y possibly damaging Het
Pms1 A G 1: 53,275,168 (GRCm38) Y73H probably benign Het
Ppt2 A T 17: 34,622,844 (GRCm38) probably benign Het
Prkdc A G 16: 15,727,605 (GRCm38) T1862A probably benign Het
Prl6a1 T C 13: 27,319,098 (GRCm38) Y231H probably benign Het
Ranbp3l T A 15: 9,000,817 (GRCm38) V41D probably damaging Het
Rhobtb2 T C 14: 69,794,039 (GRCm38) T546A possibly damaging Het
Ripk4 A T 16: 97,744,142 (GRCm38) L372* probably null Het
Rnf126 A G 10: 79,759,137 (GRCm38) probably benign Het
S100pbp A G 4: 129,182,100 (GRCm38) V144A probably benign Het
Saal1 T C 7: 46,699,456 (GRCm38) Q317R probably damaging Het
Sap25 G A 5: 137,642,772 (GRCm38) G277R probably damaging Het
Senp2 C T 16: 22,014,199 (GRCm38) T79I probably damaging Het
Serpinb9c A T 13: 33,156,871 (GRCm38) C81* probably null Het
Set A G 2: 30,069,036 (GRCm38) K70E possibly damaging Het
Setd3 A G 12: 108,107,341 (GRCm38) I559T probably benign Het
Sik1 A G 17: 31,848,797 (GRCm38) S435P probably benign Het
Skint3 A T 4: 112,255,783 (GRCm38) K197* probably null Het
Skint5 T A 4: 113,870,700 (GRCm38) I402F possibly damaging Het
Slc18a1 G A 8: 69,043,961 (GRCm38) T350M probably damaging Het
Slc19a3 A T 1: 83,014,791 (GRCm38) I403K probably damaging Het
Slc1a7 C T 4: 108,004,439 (GRCm38) T225I probably benign Het
Slc38a4 T C 15: 97,008,725 (GRCm38) I336V probably benign Het
Smarcc1 A G 9: 110,118,343 (GRCm38) probably benign Het
St8sia5 A T 18: 77,254,763 (GRCm38) I390F probably damaging Het
Strc A T 2: 121,378,887 (GRCm38) W290R probably damaging Het
Svep1 T C 4: 58,084,554 (GRCm38) D1858G possibly damaging Het
Sympk G A 7: 19,043,529 (GRCm38) R568Q probably damaging Het
Tex44 A C 1: 86,427,006 (GRCm38) K212N probably damaging Het
Tgm4 T C 9: 123,061,770 (GRCm38) I54T probably damaging Het
Thrap3 C T 4: 126,180,174 (GRCm38) V260I probably damaging Het
Thsd7a A T 6: 12,318,106 (GRCm38) probably benign Het
Trim12c A G 7: 104,348,191 (GRCm38) F53L possibly damaging Het
Ttc6 T A 12: 57,737,693 (GRCm38) D1849E probably benign Het
Ubap2l A T 3: 90,031,376 (GRCm38) probably benign Het
Umodl1 G A 17: 31,008,766 (GRCm38) probably null Het
Usp17la A C 7: 104,861,171 (GRCm38) T328P probably damaging Het
Vmn2r113 T A 17: 22,958,249 (GRCm38) L669* probably null Het
Vps13b T A 15: 35,841,447 (GRCm38) V2541E probably damaging Het
Wnt3 T C 11: 103,812,285 (GRCm38) I198T probably damaging Het
Zfp316 T C 5: 143,263,406 (GRCm38) E158G unknown Het
Zfp362 T G 4: 128,786,987 (GRCm38) I182L possibly damaging Het
Zfp804a A G 2: 82,257,366 (GRCm38) D513G probably benign Het
Zfp879 C T 11: 50,832,601 (GRCm38) E543K probably benign Het
Zfp97 T A 17: 17,144,756 (GRCm38) N172K possibly damaging Het
Zmym6 A T 4: 127,088,415 (GRCm38) K82* probably null Het
Other mutations in Ano1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Ano1 APN 7 144,638,513 (GRCm38) missense probably damaging 1.00
IGL00754:Ano1 APN 7 144,597,231 (GRCm38) missense probably damaging 0.98
IGL00780:Ano1 APN 7 144,655,630 (GRCm38) missense probably damaging 0.99
IGL00918:Ano1 APN 7 144,644,752 (GRCm38) splice site probably benign
IGL01112:Ano1 APN 7 144,637,145 (GRCm38) missense possibly damaging 0.52
IGL01285:Ano1 APN 7 144,644,742 (GRCm38) missense probably benign 0.00
IGL01285:Ano1 APN 7 144,595,538 (GRCm38) missense probably damaging 0.98
IGL01308:Ano1 APN 7 144,595,498 (GRCm38) missense probably damaging 0.99
IGL01407:Ano1 APN 7 144,637,111 (GRCm38) missense probably benign 0.22
IGL01672:Ano1 APN 7 144,655,675 (GRCm38) missense probably damaging 0.96
IGL01920:Ano1 APN 7 144,611,454 (GRCm38) splice site probably benign
IGL01926:Ano1 APN 7 144,610,875 (GRCm38) missense possibly damaging 0.94
IGL02164:Ano1 APN 7 144,637,181 (GRCm38) missense possibly damaging 0.91
IGL02190:Ano1 APN 7 144,618,883 (GRCm38) missense probably benign 0.41
IGL02214:Ano1 APN 7 144,655,708 (GRCm38) missense possibly damaging 0.80
IGL02299:Ano1 APN 7 144,590,075 (GRCm38) missense possibly damaging 0.80
IGL02567:Ano1 APN 7 144,611,625 (GRCm38) missense probably damaging 1.00
IGL03131:Ano1 APN 7 144,603,585 (GRCm38) missense possibly damaging 0.90
IGL03291:Ano1 APN 7 144,621,675 (GRCm38) missense probably damaging 1.00
IGL03299:Ano1 APN 7 144,654,256 (GRCm38) missense probably damaging 1.00
IGL03394:Ano1 APN 7 144,595,439 (GRCm38) splice site probably null
PIT4434001:Ano1 UTSW 7 144,610,895 (GRCm38) missense probably benign 0.28
R0502:Ano1 UTSW 7 144,597,215 (GRCm38) missense probably damaging 1.00
R0595:Ano1 UTSW 7 144,590,153 (GRCm38) missense possibly damaging 0.94
R0732:Ano1 UTSW 7 144,619,488 (GRCm38) critical splice acceptor site probably null
R0970:Ano1 UTSW 7 144,595,571 (GRCm38) missense probably benign 0.02
R0988:Ano1 UTSW 7 144,633,653 (GRCm38) missense possibly damaging 0.94
R1074:Ano1 UTSW 7 144,611,680 (GRCm38) missense probably damaging 0.98
R1301:Ano1 UTSW 7 144,633,689 (GRCm38) missense possibly damaging 0.60
R1528:Ano1 UTSW 7 144,595,566 (GRCm38) missense probably damaging 1.00
R2018:Ano1 UTSW 7 144,654,250 (GRCm38) missense probably damaging 1.00
R2056:Ano1 UTSW 7 144,648,052 (GRCm38) missense probably damaging 1.00
R2057:Ano1 UTSW 7 144,648,052 (GRCm38) missense probably damaging 1.00
R2059:Ano1 UTSW 7 144,611,390 (GRCm38) missense probably damaging 1.00
R2860:Ano1 UTSW 7 144,590,012 (GRCm38) missense probably damaging 1.00
R2861:Ano1 UTSW 7 144,590,012 (GRCm38) missense probably damaging 1.00
R3770:Ano1 UTSW 7 144,595,569 (GRCm38) missense probably damaging 1.00
R3970:Ano1 UTSW 7 144,607,963 (GRCm38) missense probably benign 0.00
R4179:Ano1 UTSW 7 144,650,505 (GRCm38) missense probably damaging 1.00
R4489:Ano1 UTSW 7 144,611,742 (GRCm38) missense probably benign 0.00
R4678:Ano1 UTSW 7 144,669,552 (GRCm38) missense probably benign 0.01
R4915:Ano1 UTSW 7 144,611,375 (GRCm38) missense possibly damaging 0.69
R5114:Ano1 UTSW 7 144,657,083 (GRCm38) missense possibly damaging 0.71
R5362:Ano1 UTSW 7 144,648,600 (GRCm38) unclassified probably benign
R5364:Ano1 UTSW 7 144,637,204 (GRCm38) missense probably damaging 1.00
R5366:Ano1 UTSW 7 144,654,209 (GRCm38) missense possibly damaging 0.85
R5387:Ano1 UTSW 7 144,648,619 (GRCm38) missense probably benign
R5762:Ano1 UTSW 7 144,648,037 (GRCm38) missense probably damaging 0.99
R5857:Ano1 UTSW 7 144,637,103 (GRCm38) missense probably benign 0.02
R6091:Ano1 UTSW 7 144,669,434 (GRCm38) missense probably benign 0.12
R6093:Ano1 UTSW 7 144,611,377 (GRCm38) missense possibly damaging 0.72
R6177:Ano1 UTSW 7 144,678,741 (GRCm38) missense possibly damaging 0.79
R6246:Ano1 UTSW 7 144,633,725 (GRCm38) missense possibly damaging 0.82
R6274:Ano1 UTSW 7 144,618,863 (GRCm38) missense probably benign 0.01
R6323:Ano1 UTSW 7 144,611,686 (GRCm38) missense possibly damaging 0.95
R6574:Ano1 UTSW 7 144,607,916 (GRCm38) critical splice donor site probably null
R6782:Ano1 UTSW 7 144,621,687 (GRCm38) missense probably damaging 1.00
R6880:Ano1 UTSW 7 144,644,742 (GRCm38) missense probably benign 0.00
R6909:Ano1 UTSW 7 144,655,731 (GRCm38) missense probably damaging 0.96
R7066:Ano1 UTSW 7 144,637,086 (GRCm38) missense probably benign 0.35
R7073:Ano1 UTSW 7 144,638,552 (GRCm38) missense probably damaging 0.96
R7146:Ano1 UTSW 7 144,655,656 (GRCm38) missense probably benign 0.00
R7420:Ano1 UTSW 7 144,655,641 (GRCm38) missense probably benign 0.00
R7874:Ano1 UTSW 7 144,621,724 (GRCm38) missense probably damaging 1.00
R8468:Ano1 UTSW 7 144,655,620 (GRCm38) missense probably damaging 1.00
R8867:Ano1 UTSW 7 144,669,660 (GRCm38) missense possibly damaging 0.66
R8923:Ano1 UTSW 7 144,650,551 (GRCm38) missense possibly damaging 0.61
R9215:Ano1 UTSW 7 144,595,605 (GRCm38) missense probably damaging 1.00
R9281:Ano1 UTSW 7 144,595,581 (GRCm38) missense probably damaging 1.00
R9572:Ano1 UTSW 7 144,650,556 (GRCm38) critical splice acceptor site probably null
R9668:Ano1 UTSW 7 144,610,842 (GRCm38) critical splice donor site probably null
R9681:Ano1 UTSW 7 144,590,156 (GRCm38) missense possibly damaging 0.68
R9756:Ano1 UTSW 7 144,608,929 (GRCm38) missense probably benign 0.45
R9780:Ano1 UTSW 7 144,655,621 (GRCm38) missense probably damaging 1.00
R9792:Ano1 UTSW 7 144,621,697 (GRCm38) missense probably damaging 1.00
R9793:Ano1 UTSW 7 144,621,697 (GRCm38) missense probably damaging 1.00
R9795:Ano1 UTSW 7 144,621,697 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTGCCAGCCAAAACTGCC -3'
(R):5'- TGCCTTCTACCCAGGGAAGAAC -3'

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