Mutagenetix > Incidental Mutations

Incidental Mutation 'R2860:Ano1'

252837

Institutional Source

Beutler Lab

Gene Symbol

Ano1

Ensembl Gene

ENSMUSG00000031075

Gene Name

anoctamin 1, calcium activated chloride channel

Synonyms

Tmem16a

MMRRC Submission

040450-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144588549-144751974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 144590012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 1011 (G1011E)

Ref Sequence

ENSEMBL: ENSMUSP00000113899 (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: G953E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: G953E

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: G1011E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: G1011E

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: G1014E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: G1014E

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

Meta Mutation Damage Score

0.0936

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (44/44)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,965,849	S2079N	probably damaging	Het
Abca13	A	G	11: 9,309,057	S2928G	probably damaging	Het
Abcc9	C	T	6: 142,626,010	V1131M	probably benign	Het
Abcd1	T	A	X: 73,737,458	L713H	probably damaging	Het
Actg1	T	C	11: 120,346,801	I52V	probably benign	Het
Ang	G	T	14: 51,101,818	D139Y	probably damaging	Het
Apoe	T	C	7: 19,697,554	Y46C	probably damaging	Het
Ash1l	T	C	3: 89,054,478	W2386R	probably damaging	Het
Asph	T	C	4: 9,598,277	D250G	probably damaging	Het
Atr	A	G	9: 95,874,243	N836S	probably benign	Het
Btg3	A	G	16: 78,364,980	V114A	probably damaging	Het
C2	T	C	17: 34,863,878	T471A	possibly damaging	Het
C4b	T	A	17: 34,734,758	S959C	probably damaging	Het
Cap1	A	T	4: 122,864,725	S221T	probably benign	Het
Capn2	A	T	1: 182,472,920		probably benign	Het
Cd38	A	G	5: 43,901,433	S130G	probably damaging	Het
Cd8b1	A	G	6: 71,334,101	R202G	probably damaging	Het
Col22a1	A	G	15: 71,815,943		probably null	Het
Cps1	A	T	1: 67,166,375	E519V	probably benign	Het
Cyp2c38	G	A	19: 39,460,694	R72W	probably benign	Het
Cyp3a16	A	T	5: 145,455,499	Y215*	probably null	Het
F5	A	T	1: 164,184,964	K482N	probably damaging	Het
Fam212a	T	C	9: 107,984,404	T238A	probably benign	Het
Fam45a	T	C	19: 60,814,794	S80P	probably benign	Het
Gab1	T	C	8: 80,784,753	M488V	probably benign	Het
Gabpb1	A	G	2: 126,653,574	I86T	probably damaging	Het
Gbx2	C	T	1: 89,929,131	R179Q	probably damaging	Het
Gm11938	C	A	11: 99,603,146	R41L	probably damaging	Het
Gpn1	A	G	5: 31,497,320	D72G	probably damaging	Het
Greb1	A	G	12: 16,711,745	S545P	probably benign	Het
Hsd3b7	T	G	7: 127,802,270	L189R	probably damaging	Het
Iglc1	T	C	16: 19,061,910		probably benign	Het
Il18r1	T	C	1: 40,498,557	V494A	possibly damaging	Het
Itsn2	C	A	12: 4,700,315		probably benign	Het
Kcnn1	T	C	8: 70,846,535	K487R	probably benign	Het
Kdf1	G	A	4: 133,528,541	E190K	probably damaging	Het
Lama3	G	T	18: 12,453,750	L723F	probably damaging	Het
Lama5	T	C	2: 180,187,247	T2034A	probably benign	Het
Maged1	G	A	X: 94,538,924	P366S	probably damaging	Het
Med14	A	G	X: 12,719,697	I521T	probably benign	Het
Mia2	A	G	12: 59,154,410	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,583,410	R53Q	possibly damaging	Het
Mum1l1	G	A	X: 139,236,680	G656S	possibly damaging	Het
Nmnat2	G	A	1: 153,112,425	V267I	probably benign	Het
Olfr1305	G	T	2: 111,873,473	C127*	probably null	Het
Olfr231	A	G	1: 174,117,732	Y95H	probably damaging	Het
Olfr490	A	G	7: 108,286,962	S55P	probably damaging	Het
Olfr715b	T	A	7: 107,106,468	H131L	probably benign	Het
Opn4	A	G	14: 34,593,828		probably null	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Parp16	G	T	9: 65,233,804	D219Y	probably damaging	Het
Pitpnm2	G	C	5: 124,121,437	H1224Q	probably damaging	Het
Pkd1	C	T	17: 24,565,446	T322I	probably benign	Het
Pkhd1l1	A	C	15: 44,540,871	T2299P	probably damaging	Het
Plin4	T	C	17: 56,106,668	D319G	probably damaging	Het
Ppp6r3	A	C	19: 3,521,782	S122R	possibly damaging	Het
Pum3	A	T	19: 27,420,125		probably benign	Het
Rims1	A	T	1: 22,432,976	F653I	probably benign	Het
Rnf113a1	A	G	X: 37,192,083	E231G	probably damaging	Het
Rnf41	T	C	10: 128,438,154	L225P	possibly damaging	Het
Ryr2	T	C	13: 11,593,093	E876G	probably damaging	Het
Slc25a10	G	A	11: 120,495,177	V115M	probably damaging	Het
Snx13	T	A	12: 35,138,117	I798N	probably benign	Het
Sri	A	T	5: 8,067,540	Q178L	probably benign	Het
Tex14	T	G	11: 87,474,417	D62E	probably damaging	Het
Tshz1	G	T	18: 84,014,980	H434Q	probably damaging	Het
Vegfd	A	G	X: 164,385,883	E57G	probably damaging	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Vmn2r59	A	G	7: 42,047,003	I105T	possibly damaging	Het
Vmn2r6	G	T	3: 64,547,339	T513N	probably benign	Het
Vmn2r72	A	T	7: 85,750,836	I335N	probably damaging	Het
Wiz	G	T	17: 32,361,706	T257K	probably damaging	Het
Xirp1	T	C	9: 120,019,815	M1V	probably null	Het
Xirp1	A	G	9: 120,018,378	S41P	probably benign	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
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
R7073:Ano1	UTSW	7	144638552	missense	probably damaging	0.96
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'- CCCTGCATAATGGCCTTGTG -3'
(R):5'- GGTGATCCCTGATATCCCCAAAG -3'

Sequencing Primer
(F):5'- TGGCCTTGTGCAAAAATGAG -3'
(R):5'- CAGCAGATCCACAAAGAGAAGGTTC -3'

Posted On

2014-12-04