Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02164:Ano1'

282582

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 #

IGL02164

Quality Score

Status

Chromosome

Chromosomal Location

144588549-144751974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144637181 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 388 (Y388N)

Ref Sequence

ENSEMBL: ENSMUSP00000112616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033393] [ENSMUST00000118556] [ENSMUST00000121758]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033393
AA Change: Y331N

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: Y331N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118556
AA Change: Y389N

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: Y389N

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

possibly damaging
Transcript: ENSMUST00000121758
AA Change: Y388N

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: Y388N

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

unknown
Transcript: ENSMUST00000152531
AA Change: Y218N

SMART Domains

Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: Y218N

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: ENSMUST00000208094

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024P04Rik	T	C	13: 98,984,207	K104E	probably damaging	Het
4930578C19Rik	T	A	X: 18,418,953	R421*	probably null	Het
5730480H06Rik	T	A	5: 48,380,182	V187E	probably benign	Het
Abcc12	T	A	8: 86,527,404	D917V	probably damaging	Het
Abhd15	A	T	11: 77,516,014	E272D	probably benign	Het
Adat3	T	A	10: 80,606,627	S100T	probably benign	Het
Adgrg6	T	C	10: 14,523,555		probably benign	Het
Alpl	C	T	4: 137,753,979	V121M	probably damaging	Het
Arrdc4	C	T	7: 68,739,537		probably benign	Het
Asxl2	A	G	12: 3,502,079	M1274V	probably benign	Het
BC048403	A	G	10: 121,750,770	Y194C	probably damaging	Het
Bmt2	G	T	6: 13,628,879	N268K	possibly damaging	Het
Bpifb2	C	A	2: 153,883,562	L176M	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cd14	T	C	18: 36,725,785	R206G	possibly damaging	Het
Cfap65	G	T	1: 74,928,145	T215K	possibly damaging	Het
Chd9	T	C	8: 90,933,221	S270P	possibly damaging	Het
Cidea	C	T	18: 67,366,511	S156L	probably damaging	Het
Col5a3	A	G	9: 20,792,643		probably null	Het
Cspg5	T	C	9: 110,251,036	V424A	probably damaging	Het
Ctc1	A	G	11: 69,026,096	H272R	probably damaging	Het
D5Ertd579e	A	T	5: 36,614,959	S697R	probably damaging	Het
Dennd3	T	C	15: 73,544,448	S516P	probably benign	Het
Dlgap4	G	A	2: 156,711,139	R509H	probably damaging	Het
Dus3l	T	C	17: 56,767,943		probably benign	Het
Dync1h1	G	T	12: 110,662,559	W4183C	probably damaging	Het
Eif2s3x	A	T	X: 94,205,072	M152K	possibly damaging	Het
Epb41l1	C	T	2: 156,494,949		probably benign	Het
Ephx2	A	G	14: 66,103,720		probably benign	Het
Fabp12	T	A	3: 10,246,015	Y129F	probably damaging	Het
Fat3	A	G	9: 16,031,424		probably benign	Het
Fat4	T	C	3: 38,996,205		probably null	Het
Gnb1	T	A	4: 155,557,174		probably null	Het
Gpr107	C	A	2: 31,178,286	Y253*	probably null	Het
Grb10	C	T	11: 11,943,962	E320K	probably damaging	Het
Gucy2g	G	T	19: 55,238,023	H154N	probably benign	Het
Hemk1	T	A	9: 107,331,536	H154L	probably benign	Het
Hk2	A	T	6: 82,743,939		probably null	Het
Htr5a	A	G	5: 27,842,465	N6S	probably damaging	Het
Htra3	T	C	5: 35,653,066	D424G	probably benign	Het
Ift52	A	G	2: 163,025,464		probably null	Het
Igdcc4	A	G	9: 65,124,782		probably benign	Het
Itpr1	A	G	6: 108,389,483	K124E	probably benign	Het
Kcnc2	T	A	10: 112,455,685	N259K	possibly damaging	Het
Lmod2	A	T	6: 24,603,910	I295F	possibly damaging	Het
Lrp1	T	C	10: 127,563,667	E2324G	probably benign	Het
Lss	T	C	10: 76,536,260	S150P	probably damaging	Het
Macf1	T	C	4: 123,480,272	N1515S	probably benign	Het
Mapk11	T	C	15: 89,145,448		probably null	Het
Mc3r	T	A	2: 172,249,394	F179I	probably damaging	Het
Mtmr9	T	A	14: 63,530,288	N291Y	probably damaging	Het
Myo1h	T	C	5: 114,334,096	F396L	probably damaging	Het
Nek2	A	G	1: 191,827,304	K307R	probably benign	Het
Olfr102	C	A	17: 37,313,687	M232I	probably benign	Het
Osmr	G	A	15: 6,842,048	T296I	probably damaging	Het
Pcdhb11	T	G	18: 37,423,359	S581A	probably benign	Het
Pfkp	C	T	13: 6,597,915	V542M	probably damaging	Het
Pmpca	C	T	2: 26,395,569	S519L	probably benign	Het
Ptgds	A	T	2: 25,469,112	Y44N	probably damaging	Het
Raly	T	A	2: 154,859,929	Y116*	probably null	Het
Rock2	A	G	12: 16,965,529	D809G	probably damaging	Het
Sgsm2	T	G	11: 74,865,416	N369T	possibly damaging	Het
Slc6a15	A	G	10: 103,418,222	D673G	probably benign	Het
Spire2	A	T	8: 123,332,964	D67V	probably damaging	Het
St7l	T	C	3: 104,922,281		probably null	Het
Stau2	A	G	1: 16,345,828	L469P	probably damaging	Het
Tefm	A	G	11: 80,140,089	L107S	probably damaging	Het
Ticam1	A	T	17: 56,270,019	V692D	unknown	Het
Tipin	T	A	9: 64,294,349	D143E	probably damaging	Het
Tmem132c	C	A	5: 127,536,377	T448K	probably damaging	Het
Trav8-1	A	T	14: 53,469,756	M1L	unknown	Het
Ttn	C	A	2: 76,738,797	V27251F	probably damaging	Het
Uvrag	A	T	7: 99,004,689	C31*	probably null	Het
Zap70	T	C	1: 36,771,186	Y126H	probably damaging	Het
Zfp644	A	G	5: 106,638,099	V194A	probably benign	Het
Zfp663	C	T	2: 165,359,048	W22*	probably null	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
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

2015-04-16