Mutagenetix > Incidental Mutations

Incidental Mutation 'R7073:Ano1'

549037

Institutional Source

Beutler Lab

Gene Symbol

Ano1

Ensembl Gene

ENSMUSG00000031075

Gene Name

anoctamin 1, calcium activated chloride channel

Synonyms

Tmem16a

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7073 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144588549-144751974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 144638552 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 361 (E361K)

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: E304K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: E304K

Domain	Start	End	E-Value	Type
low complexity region	129	147	N/A	INTRINSIC
Pfam:Anoctamin	320	898	1.3e-149	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118556
AA Change: E362K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: E362K

Domain	Start	End	E-Value	Type
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: E361K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: E361K

Domain	Start	End	E-Value	Type
Pfam:Anoct_dimer	54	317	7.1e-83	PFAM
Pfam:Anoctamin	320	901	2.2e-139	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152531
AA Change: E191K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: E191K

Domain	Start	End	E-Value	Type
Pfam:Anoct_dimer	2	205	4.4e-64	PFAM
Pfam:Anoctamin	208	335	3e-36	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	G	13: 81,561,474	E1133D	probably damaging	Het
Ankrd13b	A	T	11: 77,472,509	D505E	probably benign	Het
Arap3	T	A	18: 37,974,442	K1341*	probably null	Het
Arhgef17	A	C	7: 100,929,991	Y583*	probably null	Het
Ash1l	G	A	3: 88,985,340	E1509K	probably damaging	Het
B430305J03Rik	T	G	3: 61,364,260	R21S	unknown	Het
Bbof1	A	G	12: 84,426,835	E313G	probably damaging	Het
Catsperb	C	T	12: 101,509,238	T347I	probably benign	Het
Ccdc24	G	T	4: 117,872,004	A92D	probably damaging	Het
Ccdc63	T	C	5: 122,111,010	T419A	probably benign	Het
Ccdc7a	C	T	8: 128,892,385	V893I	possibly damaging	Het
Ccdc88b	G	T	19: 6,853,962	D537E	probably benign	Het
Cd276	T	C	9: 58,537,332	S119G	probably damaging	Het
Cdkn3	T	C	14: 46,767,190	Y70H	possibly damaging	Het
Cdo1	G	A	18: 46,728,199		probably benign	Het
Cdr2	A	T	7: 120,982,024	F10Y	probably damaging	Het
Cep290	A	T	10: 100,539,003	K1370N	possibly damaging	Het
Crb1	T	A	1: 139,248,311	I645F	probably damaging	Het
Cul7	T	C	17: 46,658,731	W975R	probably damaging	Het
Ddx39b	A	C	17: 35,252,850	E324A	probably benign	Het
Diaph1	T	G	18: 37,889,814		probably null	Het
Dnah2	G	A	11: 69,430,492	R3917*	probably null	Het
Dnph1	T	A	17: 46,496,889	L27Q	probably damaging	Het
Duox2	A	G	2: 122,289,307	F880S	probably damaging	Het
Ell2	C	A	13: 75,761,887	L119M	probably damaging	Het
Enpep	A	T	3: 129,312,670	Y302*	probably null	Het
Ergic2	G	T	6: 148,195,209	H186Q	probably damaging	Het
Fam83b	T	C	9: 76,545,749	D12G	probably benign	Het
Fbxw16	A	T	9: 109,441,055	V206D	probably damaging	Het
Fhod1	A	T	8: 105,337,139	V278D	unknown	Het
Gba2	G	C	4: 43,573,753	Q180E	probably damaging	Het
Gm11127	A	T	17: 36,058,343	C7S	unknown	Het
Grhl3	G	A	4: 135,573,412	L5F	probably benign	Het
Ifit1bl1	C	T	19: 34,599,267		probably null	Het
Ift57	A	G	16: 49,763,867	T413A	probably benign	Het
Itga2	A	G	13: 114,859,613	F714S	probably damaging	Het
Jmy	A	G	13: 93,441,333	S776P	probably benign	Het
Kbtbd8	G	A	6: 95,121,833	A108T	probably damaging	Het
Kpna6	G	A	4: 129,654,346	A230V	probably damaging	Het
Lrfn1	C	T	7: 28,459,972	L439F	possibly damaging	Het
Lrrc1	T	A	9: 77,468,565	I147F	probably benign	Het
Lrrc7	C	T	3: 158,127,247	G1425R	probably damaging	Het
Madd	T	A	2: 91,162,509	I1022F	probably damaging	Het
Map2k2	A	T	10: 81,106,183	T13S	probably benign	Het
Mdc1	G	A	17: 35,854,068	V1459I	probably benign	Het
Mdh1b	G	A	1: 63,721,560	T114M	probably damaging	Het
Mfsd2a	T	C	4: 122,951,295	I208V	possibly damaging	Het
Mmrn1	T	A	6: 60,988,427	D1147E	probably damaging	Het
Nbeal2	T	A	9: 110,626,109	I2574F	probably damaging	Het
Nr1d1	T	G	11: 98,772,066	S34R	probably damaging	Het
Nr3c1	A	T	18: 39,486,396	D279E	probably benign	Het
Nrde2	T	C	12: 100,132,488	D640G	probably benign	Het
Odf4	A	G	11: 68,926,688	L58P	probably damaging	Het
Olfr1184	A	T	2: 88,487,307	I192F	probably benign	Het
Olfr1287	A	T	2: 111,449,286	I49F	probably benign	Het
Otud6b	A	C	4: 14,811,743	M300R	probably damaging	Het
Pamr1	T	A	2: 102,640,935	D534E	probably benign	Het
Pcdh7	T	A	5: 57,720,957	V618E	probably benign	Het
Pcgf6	A	C	19: 47,042,787	N266K	possibly damaging	Het
Plcz1	A	T	6: 140,023,123	Y196*	probably null	Het
Plxna1	A	T	6: 89,357,329	L106Q	probably damaging	Het
Qrich2	G	A	11: 116,446,875	A184V	probably damaging	Het
Rimkla	A	G	4: 119,468,078	L378S	probably benign	Het
Rufy1	G	T	11: 50,404,463	H472Q	probably benign	Het
Samd7	T	A	3: 30,756,482	M216K	probably benign	Het
Samd9l	A	T	6: 3,375,856	Y468*	probably null	Het
Scn2a	T	G	2: 65,728,443	L1194R	probably benign	Het
Sgo2a	T	A	1: 58,017,785	S1043T	possibly damaging	Het
Slc6a17	G	T	3: 107,471,439	H642Q	probably benign	Het
Smox	C	T	2: 131,522,111	A45V	possibly damaging	Het
St6galnac3	T	A	3: 153,411,637	T150S	possibly damaging	Het
Strip2	T	A	6: 29,941,912	I627N	possibly damaging	Het
Sv2c	A	T	13: 96,088,250	C184S	probably damaging	Het
Tm7sf2	A	T	19: 6,066,497		probably null	Het
Ttc28	T	C	5: 111,223,416	I608T	possibly damaging	Het
Vmn1r183	T	G	7: 24,055,501	L243R	probably damaging	Het
Vmn1r68	T	C	7: 10,527,851	T107A	probably benign	Het
Vnn3	G	A	10: 23,864,413	G205R	probably damaging	Het
Zfp516	T	A	18: 82,988,200		probably null	Het
Zpbp2	A	G	11: 98,552,509	D56G	probably damaging	Het

Other mutations in Ano1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Ano1	APN	7	144638513	missense	probably damaging	1.00
IGL00754:Ano1	APN	7	144597231	missense	probably damaging	0.98
IGL00780:Ano1	APN	7	144655630	missense	probably damaging	0.99
IGL00918:Ano1	APN	7	144644752	splice site	probably benign
IGL01112:Ano1	APN	7	144637145	missense	possibly damaging	0.52
IGL01285:Ano1	APN	7	144644742	missense	probably benign	0.00
IGL01285:Ano1	APN	7	144595538	missense	probably damaging	0.98
IGL01308:Ano1	APN	7	144595498	missense	probably damaging	0.99
IGL01407:Ano1	APN	7	144637111	missense	probably benign	0.22
IGL01672:Ano1	APN	7	144655675	missense	probably damaging	0.96
IGL01920:Ano1	APN	7	144611454	splice site	probably benign
IGL01926:Ano1	APN	7	144610875	missense	possibly damaging	0.94
IGL02164:Ano1	APN	7	144637181	missense	possibly damaging	0.91
IGL02190:Ano1	APN	7	144618883	missense	probably benign	0.41
IGL02214:Ano1	APN	7	144655708	missense	possibly damaging	0.80
IGL02299:Ano1	APN	7	144590075	missense	possibly damaging	0.80
IGL02567:Ano1	APN	7	144611625	missense	probably damaging	1.00
IGL03131:Ano1	APN	7	144603585	missense	possibly damaging	0.90
IGL03291:Ano1	APN	7	144621675	missense	probably damaging	1.00
IGL03299:Ano1	APN	7	144654256	missense	probably damaging	1.00
IGL03394:Ano1	APN	7	144595439	splice site	probably null
PIT4434001:Ano1	UTSW	7	144610895	missense	probably benign	0.28
R0502:Ano1	UTSW	7	144597215	missense	probably damaging	1.00
R0595:Ano1	UTSW	7	144590153	missense	possibly damaging	0.94
R0732:Ano1	UTSW	7	144619488	critical splice acceptor site	probably null
R0970:Ano1	UTSW	7	144595571	missense	probably benign	0.02
R0988:Ano1	UTSW	7	144633653	missense	possibly damaging	0.94
R1074:Ano1	UTSW	7	144611680	missense	probably damaging	0.98
R1301:Ano1	UTSW	7	144633689	missense	possibly damaging	0.60
R1528:Ano1	UTSW	7	144595566	missense	probably damaging	1.00
R2018:Ano1	UTSW	7	144654250	missense	probably damaging	1.00
R2056:Ano1	UTSW	7	144648052	missense	probably damaging	1.00
R2057:Ano1	UTSW	7	144648052	missense	probably damaging	1.00
R2058:Ano1	UTSW	7	144648052	missense	probably damaging	1.00
R2059:Ano1	UTSW	7	144611390	missense	probably damaging	1.00
R2860:Ano1	UTSW	7	144590012	missense	probably damaging	1.00
R2861:Ano1	UTSW	7	144590012	missense	probably damaging	1.00
R3770:Ano1	UTSW	7	144595569	missense	probably damaging	1.00
R3970:Ano1	UTSW	7	144607963	missense	probably benign	0.00
R4179:Ano1	UTSW	7	144650505	missense	probably damaging	1.00
R4489:Ano1	UTSW	7	144611742	missense	probably benign	0.00
R4678:Ano1	UTSW	7	144669552	missense	probably benign	0.01
R4915:Ano1	UTSW	7	144611375	missense	possibly damaging	0.69
R5114:Ano1	UTSW	7	144657083	missense	possibly damaging	0.71
R5362:Ano1	UTSW	7	144648600	unclassified	probably benign
R5364:Ano1	UTSW	7	144637204	missense	probably damaging	1.00
R5366:Ano1	UTSW	7	144654209	missense	possibly damaging	0.85
R5387:Ano1	UTSW	7	144648619	missense	probably benign
R5762:Ano1	UTSW	7	144648037	missense	probably damaging	0.99
R5857:Ano1	UTSW	7	144637103	missense	probably benign	0.02
R6091:Ano1	UTSW	7	144669434	missense	probably benign	0.12
R6093:Ano1	UTSW	7	144611377	missense	possibly damaging	0.72
R6177:Ano1	UTSW	7	144678741	missense	possibly damaging	0.79
R6246:Ano1	UTSW	7	144633725	missense	possibly damaging	0.82
R6274:Ano1	UTSW	7	144618863	missense	probably benign	0.01
R6323:Ano1	UTSW	7	144611686	missense	possibly damaging	0.95
R6574:Ano1	UTSW	7	144607916	critical splice donor site	probably null
R6782:Ano1	UTSW	7	144621687	missense	probably damaging	1.00
R6880:Ano1	UTSW	7	144644742	missense	probably benign	0.00
R6909:Ano1	UTSW	7	144655731	missense	probably damaging	0.96
R7066:Ano1	UTSW	7	144637086	missense	probably benign	0.35
R7146:Ano1	UTSW	7	144655656	missense	probably benign	0.00
R7420:Ano1	UTSW	7	144655641	missense	probably benign	0.00
R7874:Ano1	UTSW	7	144621724	missense	probably damaging	1.00
R8468:Ano1	UTSW	7	144655620	missense	probably damaging	1.00
R8867:Ano1	UTSW	7	144669660	missense	possibly damaging	0.66
R8923:Ano1	UTSW	7	144650551	missense	possibly damaging	0.61
R9215:Ano1	UTSW	7	144595605	missense	probably damaging	1.00
R9281:Ano1	UTSW	7	144595581	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATAGCCTCTGAATTCAAGCAGG -3'
(R):5'- TGGCAGCTCCACAATAACAG -3'

Sequencing Primer
(F):5'- TCTGAATTCAAGCAGGTTCCCAGG -3'
(R):5'- CAGATAGCTGTTCTGGGATTCG -3'

Posted On

2019-05-15