Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01285:Ano1'

72668

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano1

Ensembl Gene

ENSMUSG00000031075

Gene Name

anoctamin 1, calcium activated chloride channel

Synonyms

Tmem16a

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01285

Quality Score

Status

Chromosome

Chromosomal Location

144588549-144751974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144644742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 345 (Y345C)

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 benign
Transcript: ENSMUST00000033393
AA Change: Y288C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: Y288C

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 benign
Transcript: ENSMUST00000118556
AA Change: Y346C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: Y346C

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 benign
Transcript: ENSMUST00000121758
AA Change: Y345C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: Y345C

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

SMART Domains

Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: Y175C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208985

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 24,781,594	N599S	probably benign	Het
Adam6a	A	T	12: 113,546,273	*755Y	probably null	Het
Adgrb3	G	T	1: 25,093,787	T1166K	probably benign	Het
Asap2	C	T	12: 21,229,263	A382V	probably damaging	Het
Asb18	A	G	1: 89,996,241	V100A	probably benign	Het
Bdnf	G	A	2: 109,723,586	A102T	probably benign	Het
Ccser2	G	A	14: 36,938,669	T509M	probably damaging	Het
Des	G	A	1: 75,362,583	A251T	probably benign	Het
Dmd	C	T	X: 85,109,984	Q3224*	probably null	Het
Endog	G	T	2: 30,171,963		probably null	Het
Ggt7	A	G	2: 155,500,771	V269A	probably damaging	Het
Gm17727	A	T	9: 35,776,748	N65K	possibly damaging	Het
Gm7173	A	G	X: 79,489,158	I767T	possibly damaging	Het
Gucy2c	A	G	6: 136,709,741	F808S	probably damaging	Het
Hira	A	G	16: 18,912,180	T210A	probably benign	Het
Ifitm5	C	A	7: 140,950,163	R16L	probably benign	Het
Igdcc4	T	C	9: 65,123,991	C404R	probably damaging	Het
Ints7	G	A	1: 191,615,778	R754H	probably benign	Het
Irf9	A	G	14: 55,607,601	E258G	probably damaging	Het
Megf11	T	C	9: 64,660,446	C406R	probably damaging	Het
Olfml1	A	G	7: 107,590,157	N143S	possibly damaging	Het
Olfr734	A	G	14: 50,320,256	F193S	possibly damaging	Het
Olfr792	T	A	10: 129,540,842	F102I	probably benign	Het
Olfr849	A	G	9: 19,440,970	D19G	probably benign	Het
Otof	G	T	5: 30,405,183	Q254K	probably damaging	Het
Plcd3	A	G	11: 103,077,870	F332L	probably benign	Het
Plxnc1	T	C	10: 94,799,368	D1332G	probably damaging	Het
Rnasel	A	T	1: 153,758,384	D521V	probably benign	Het
Sema5a	T	A	15: 32,574,997	V417D	possibly damaging	Het
Senp6	G	A	9: 80,136,718	R877Q	probably benign	Het
Shroom2	A	T	X: 152,659,357	D937E	probably damaging	Het
Slc35a3	A	G	3: 116,694,613	S142P	probably damaging	Het
Srpx	A	T	X: 10,039,059	V398E	probably damaging	Het
Stk10	A	T	11: 32,610,653	K669N	possibly damaging	Het
Sumf2	A	G	5: 129,849,970	D49G	probably damaging	Het
Syde1	T	A	10: 78,588,887	E370D	probably damaging	Het
Tas2r115	G	T	6: 132,737,678	S103R	probably damaging	Het
Top2a	G	A	11: 99,006,159		probably benign	Het
Ttn	T	A	2: 76,720,498	T23190S	probably damaging	Het
Ttyh3	C	A	5: 140,629,412	C407F	probably damaging	Het
Vmn2r27	G	T	6: 124,192,411	H587N	possibly damaging	Het
Vmn2r74	A	G	7: 85,957,484	I218T	possibly damaging	Het
Vsig10	A	G	5: 117,324,889	N60S	probably benign	Het
Zc3h7a	A	G	16: 11,139,115	S877P	probably damaging	Het
Zfp979	G	T	4: 147,615,396	T29N	probably damaging	Het
Znfx1	G	A	2: 167,038,695	R390C	possibly 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	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
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

Posted On

2013-10-07