Mutagenetix > Incidental Mutations

Incidental Mutation 'R2018:Ano1'

223427

Institutional Source

Beutler Lab

Gene Symbol

Ano1

Ensembl Gene

ENSMUSG00000031075

Gene Name

anoctamin 1, calcium activated chloride channel

Synonyms

Tmem16a

MMRRC Submission

040027-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2018 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

144588549-144751974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144654250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 258 (L258P)

Ref Sequence

ENSEMBL: ENSMUSP00000120306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033393] [ENSMUST00000118556] [ENSMUST00000121758] [ENSMUST00000131731] [ENSMUST00000155175]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000033393
AA Change: L234P

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

SMART Domains

Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: L234P

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: L292P

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

SMART Domains

Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: L292P

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: L291P

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

SMART Domains

Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: L291P

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

probably benign
Transcript: ENSMUST00000131731

SMART Domains

Protein: ENSMUSP00000118206
Gene: ENSMUSG00000031075

Domain	Start	End	E-Value	Type
low complexity region	129	147	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141632

Predicted Effect

unknown
Transcript: ENSMUST00000152531
AA Change: L99P

SMART Domains

Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: L99P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000155175
AA Change: L258P

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

SMART Domains

Protein: ENSMUSP00000120306
Gene: ENSMUSG00000031075
AA Change: L258P

Domain	Start	End	E-Value	Type
low complexity region	153	171	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208985

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,458,065	F252L	possibly damaging	Het
4921501E09Rik	T	C	17: 33,066,967	N287S	probably benign	Het
4930447A16Rik	T	G	15: 37,440,498		probably benign	Het
Abca14	A	T	7: 120,216,185	M219L	probably benign	Het
Abi3bp	A	G	16: 56,677,796	T918A	probably damaging	Het
Acss3	C	T	10: 106,936,207	S669N	probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adamtsl4	A	G	3: 95,681,102	Y559H	probably damaging	Het
Adgrg5	T	A	8: 94,934,480	M106K	probably damaging	Het
Akt1	T	C	12: 112,659,625	N71S	probably damaging	Het
Amer2	A	C	14: 60,378,445	K30Q	probably damaging	Het
Anapc5	T	C	5: 122,800,524	K383E	probably damaging	Het
Arhgef10l	A	G	4: 140,544,384	S560P	probably damaging	Het
Arhgef40	T	A	14: 52,003,705	L1395Q	probably damaging	Het
Arid1a	A	T	4: 133,681,834	D1787E	unknown	Het
C77080	A	G	4: 129,222,355	S884P	probably damaging	Het
Ces2h	T	C	8: 105,018,398	L388P	probably damaging	Het
Cfap54	T	A	10: 93,016,604	N880I	probably benign	Het
Cryz	T	C	3: 154,621,683	V116A	probably damaging	Het
Csrp1	G	A	1: 135,750,628	A159T	probably damaging	Het
Cttnbp2	A	G	6: 18,434,518	F447S	probably damaging	Het
Cyp4a12a	A	T	4: 115,327,505	I328F	probably damaging	Het
Cyth4	T	G	15: 78,608,171	H133Q	probably damaging	Het
Ddah2	A	G	17: 35,060,426	I88V	possibly damaging	Het
Dmbt1	T	G	7: 131,110,989	I1563S	possibly damaging	Het
Dnajc22	T	C	15: 99,101,233	S100P	probably benign	Het
Fam172a	A	G	13: 77,999,637	T321A	possibly damaging	Het
Fancl	T	A	11: 26,422,459	D123E	probably damaging	Het
Fbxo30	A	G	10: 11,291,028	Q498R	probably damaging	Het
Fgd4	T	C	16: 16,435,960	H581R	probably benign	Het
Gm2663	T	C	6: 40,997,966	Q57R	probably benign	Het
Gm5065	A	G	7: 5,359,574	D68G	probably benign	Het
Gm7247	A	T	14: 51,365,347	M47L	possibly damaging	Het
Gsdmc2	T	A	15: 63,828,126		probably null	Het
Hc	A	C	2: 35,013,528	F1038C	probably damaging	Het
Heatr1	C	A	13: 12,414,478	Q890K	possibly damaging	Het
Hipk4	C	A	7: 27,529,004	T293K	probably damaging	Het
Hp1bp3	C	A	4: 138,221,632	A2E	probably damaging	Het
Il6	T	C	5: 30,014,947		probably null	Het
Itga6	A	G	2: 71,818,484	D104G	probably benign	Het
Krt24	A	G	11: 99,282,451	S293P	probably damaging	Het
Krt4	C	T	15: 101,920,651	R309Q	probably damaging	Het
Krt40	A	T	11: 99,540,087	W199R	probably damaging	Het
Lamc1	T	C	1: 153,242,632	E931G	probably benign	Het
Lamp3	A	T	16: 19,701,211	M74K	probably benign	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
March7	T	A	2: 60,229,040	Y37*	probably null	Het
Mrpl36	A	G	13: 73,331,568	K66E	probably damaging	Het
Mrps35	G	T	6: 147,061,484	E229*	probably null	Het
Mtmr6	T	C	14: 60,298,992	M557T	probably benign	Het
Myocd	A	T	11: 65,187,028	I647N	probably damaging	Het
Myom2	A	C	8: 15,131,151	L1350F	probably damaging	Het
Nosip	T	A	7: 45,076,609	S197T	probably benign	Het
Npat	A	G	9: 53,562,491	K528E	probably benign	Het
Nyap2	A	G	1: 81,191,872	T115A	probably benign	Het
Olfr1032	A	T	2: 86,008,223	Y149F	probably damaging	Het
Olfr1214	G	T	2: 88,988,145	P19Q	probably benign	Het
Olfr122	A	G	17: 37,772,576	R317G	probably benign	Het
Olfr1245	A	G	2: 89,575,393	V111A	probably damaging	Het
Olfr65	T	A	7: 103,907,042	V201D	possibly damaging	Het
Olfr972	A	G	9: 39,874,058	Q261R	probably benign	Het
Orc1	T	C	4: 108,590,700	V48A	possibly damaging	Het
Pde6d	T	C	1: 86,546,716	E69G	probably damaging	Het
Pdgfrb	A	T	18: 61,083,334	D1088V	possibly damaging	Het
Peg12	A	G	7: 62,463,638	V237A	probably benign	Het
Piezo1	A	G	8: 122,482,712	F2371L	probably benign	Het
Podn	T	A	4: 108,023,373	S27C	probably damaging	Het
Pom121l2	A	G	13: 21,982,734	M392V	possibly damaging	Het
Ppm1b	A	G	17: 84,994,202	K170R	probably damaging	Het
Rab18	A	T	18: 6,770,113		probably null	Het
Raet1d	G	A	10: 22,371,012	A80T	probably damaging	Het
Rfx7	T	A	9: 72,617,685	V719E	probably benign	Het
Rnf219	T	A	14: 104,522,542	K24M	probably damaging	Het
Ror1	C	T	4: 100,407,841	Q171*	probably null	Het
Rufy4	G	A	1: 74,140,947	V454M	possibly damaging	Het
Ryr2	C	T	13: 11,851,188	G292D	possibly damaging	Het
Ryr3	G	T	2: 112,781,065	N2257K	probably benign	Het
Saal1	A	G	7: 46,699,489	F306S	possibly damaging	Het
Sap18	A	G	14: 57,798,564	N69S	probably damaging	Het
Sar1b	A	T	11: 51,779,687		probably null	Het
Serpina3n	G	T	12: 104,409,214	V182L	probably damaging	Het
Setd3	A	T	12: 108,118,254	H279Q	probably damaging	Het
Slc18a2	C	A	19: 59,276,505	A307E	possibly damaging	Het
Slc4a10	A	T	2: 62,234,381	D193V	probably damaging	Het
Spire2	T	C	8: 123,332,918	C52R	probably damaging	Het
Syne2	A	T	12: 76,074,579	I5940F	probably damaging	Het
Sytl1	C	T	4: 133,256,160	S355N	probably damaging	Het
Tarbp1	C	T	8: 126,428,114	V1424I	probably damaging	Het
Tatdn3	A	T	1: 191,049,280		probably null	Het
Tbpl1	T	A	10: 22,707,677	E131D	probably damaging	Het
Telo2	A	T	17: 25,105,408	M501K	probably damaging	Het
Terb1	A	G	8: 104,452,699	V619A	probably benign	Het
Tmem132e	A	G	11: 82,445,163	T1024A	probably benign	Het
Tmem30a	T	C	9: 79,774,218	D223G	probably damaging	Het
Tmprss11d	A	G	5: 86,339,554	V19A	probably damaging	Het
Tnks	A	T	8: 34,851,106	S872T	probably damaging	Het
Tnxb	A	G	17: 34,671,750	S356G	probably benign	Het
Tob2	T	C	15: 81,851,199	K190E	probably damaging	Het
Togaram1	T	C	12: 65,002,659	V1240A	possibly damaging	Het
Trim13	T	A	14: 61,604,886	C117*	probably null	Het
Trpv4	G	A	5: 114,634,605	R308C	probably damaging	Het
Ttn	C	G	2: 76,755,332	D21987H	probably damaging	Het
Ttn	C	A	2: 76,826,074		probably null	Het
Upp1	A	T	11: 9,133,240	M111L	possibly damaging	Het
Vmn1r206	A	T	13: 22,620,188	V283E	probably damaging	Het
Vmn2r79	G	T	7: 87,002,426	L344F	probably benign	Het
Vmn2r93	T	G	17: 18,326,062	I732S	probably damaging	Het
Vmn2r96	G	T	17: 18,584,001	M504I	probably benign	Het
Vps39	T	C	2: 120,343,227	Y147C	probably damaging	Het
Zbtb20	T	A	16: 43,577,652	C35S	possibly damaging	Het
Zfp871	A	T	17: 32,774,777	C475S	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
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

Predicted Primers

PCR Primer
(F):5'- TCCTCCTCCAAACTGAGCAG -3'
(R):5'- TAGGGTTAATGAGGTCTGCTAACC -3'

Sequencing Primer
(F):5'- TCCAAACTGAGCAGCCAGGG -3'
(R):5'- TGCTAACCTCATGCCCAGG -3'

Posted On

2014-08-25