Mutagenetix > Incidental Mutations

Incidental Mutation 'R2058:Ano1'

228372

Institutional Source

Beutler Lab

Gene Symbol

Ano1

Ensembl Gene

ENSMUSG00000031075

Gene Name

anoctamin 1, calcium activated chloride channel

Synonyms

Tmem16a

MMRRC Submission

040063-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144588549-144751974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144648052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 334 (V334A)

Ref Sequence

ENSEMBL: ENSMUSP00000113899 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000033393
AA Change: V276A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: V276A

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: V334A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: V334A

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: V333A

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: V333A

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: V163A

SMART Domains

Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: V163A

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 benign
Transcript: ENSMUST00000155175

SMART Domains

Protein: ENSMUSP00000120306
Gene: ENSMUSG00000031075

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208985

Meta Mutation Damage Score

0.3632

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

99% (94/95)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 24,672,066		probably benign	Het
Adgrf5	A	G	17: 43,428,586	Y72C	possibly damaging	Het
Alas1	T	C	9: 106,241,290	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,443,750		probably benign	Het
Arhgap18	C	T	10: 26,854,908	T122I	probably benign	Het
Arhgef4	A	G	1: 34,722,377	K238R	unknown	Het
Atf6b	A	T	17: 34,648,575		probably null	Het
Atp2a1	G	A	7: 126,447,672	A847V	possibly damaging	Het
Baz1b	T	A	5: 135,217,225	N509K	probably benign	Het
BC051076	A	T	5: 87,963,985		noncoding transcript	Het
Cage1	A	G	13: 38,023,380	V163A	probably benign	Het
Canx	T	C	11: 50,304,425	N272S	probably damaging	Het
Cd302	T	A	2: 60,252,423	I186F	possibly damaging	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Cep112	T	A	11: 108,519,261		probably null	Het
Cmtm4	A	C	8: 104,355,288	F156V	probably damaging	Het
Col4a1	T	A	8: 11,210,792	D1330V	probably damaging	Het
Ctsa	T	G	2: 164,834,902	M136R	probably null	Het
Cyp2d10	T	A	15: 82,403,814	I363F	probably damaging	Het
Dmbt1	G	A	7: 131,106,170	A1381T	possibly damaging	Het
Dmwd	T	A	7: 19,080,727	L434Q	probably damaging	Het
Fat4	T	A	3: 38,891,170	M1404K	possibly damaging	Het
Gcc2	T	A	10: 58,285,957	S1102T	probably benign	Het
Gcm2	T	C	13: 41,109,954	M1V	probably null	Het
Gna14	G	C	19: 16,608,141		probably benign	Het
Gsk3b	T	A	16: 38,187,909	D192E	probably benign	Het
Gulo	A	G	14: 65,991,159	V270A	possibly damaging	Het
Hps5	T	A	7: 46,768,051	D904V	probably damaging	Het
Il7	A	T	3: 7,573,915	N130K	probably damaging	Het
Jak3	A	T	8: 71,685,383		probably null	Het
Klhl6	T	G	16: 19,982,931	T25P	probably benign	Het
Kremen2	T	C	17: 23,742,717	E272G	possibly damaging	Het
Map3k21	A	G	8: 125,938,722	K550R	probably benign	Het
Mphosph10	T	A	7: 64,376,751	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,549,333	E204G	probably damaging	Het
Msh5	A	C	17: 35,029,756	V738G	probably damaging	Het
Mybph	G	A	1: 134,200,119	C473Y	probably damaging	Het
Nid1	A	C	13: 13,500,473	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,557,362	I46K	possibly damaging	Het
Notch3	T	C	17: 32,143,644	T1336A	probably benign	Het
Nsun4	T	C	4: 116,053,680		probably null	Het
Olfr1023	A	T	2: 85,886,952	T51S	possibly damaging	Het
Olfr390	A	G	11: 73,787,274	N112S	probably benign	Het
Osgin1	A	G	8: 119,445,673	D402G	possibly damaging	Het
Patl1	A	G	19: 11,932,147	E479G	possibly damaging	Het
Pbsn	T	C	X: 77,847,976	K72E	probably damaging	Het
Pcdhb13	A	G	18: 37,444,567	Q666R	possibly damaging	Het
Pi4k2b	G	A	5: 52,750,680	V131I	probably benign	Het
Pkn2	G	A	3: 142,853,471	H98Y	possibly damaging	Het
Pms1	A	G	1: 53,275,168	Y73H	probably benign	Het
Ppt2	A	T	17: 34,622,844		probably benign	Het
Prkdc	A	G	16: 15,727,605	T1862A	probably benign	Het
Prl6a1	T	C	13: 27,319,098	Y231H	probably benign	Het
Ranbp3l	T	A	15: 9,000,817	V41D	probably damaging	Het
Rhobtb2	T	C	14: 69,794,039	T546A	possibly damaging	Het
Ripk4	A	T	16: 97,744,142	L372*	probably null	Het
Rnf126	A	G	10: 79,759,137		probably benign	Het
S100pbp	A	G	4: 129,182,100	V144A	probably benign	Het
Saal1	T	C	7: 46,699,456	Q317R	probably damaging	Het
Sap25	G	A	5: 137,642,772	G277R	probably damaging	Het
Senp2	C	T	16: 22,014,199	T79I	probably damaging	Het
Serpinb9c	A	T	13: 33,156,871	C81*	probably null	Het
Set	A	G	2: 30,069,036	K70E	possibly damaging	Het
Setd3	A	G	12: 108,107,341	I559T	probably benign	Het
Sik1	A	G	17: 31,848,797	S435P	probably benign	Het
Skint3	A	T	4: 112,255,783	K197*	probably null	Het
Skint5	T	A	4: 113,870,700	I402F	possibly damaging	Het
Slc18a1	G	A	8: 69,043,961	T350M	probably damaging	Het
Slc19a3	A	T	1: 83,014,791	I403K	probably damaging	Het
Slc1a7	C	T	4: 108,004,439	T225I	probably benign	Het
Slc38a4	T	C	15: 97,008,725	I336V	probably benign	Het
Smarcc1	A	G	9: 110,118,343		probably benign	Het
St8sia5	A	T	18: 77,254,763	I390F	probably damaging	Het
Strc	A	T	2: 121,378,887	W290R	probably damaging	Het
Svep1	T	C	4: 58,084,554	D1858G	possibly damaging	Het
Sympk	G	A	7: 19,043,529	R568Q	probably damaging	Het
Tex44	A	C	1: 86,427,006	K212N	probably damaging	Het
Tgm4	T	C	9: 123,061,770	I54T	probably damaging	Het
Thrap3	C	T	4: 126,180,174	V260I	probably damaging	Het
Thsd7a	A	T	6: 12,318,106		probably benign	Het
Trim12c	A	G	7: 104,348,191	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,737,693	D1849E	probably benign	Het
Ubap2l	A	T	3: 90,031,376		probably benign	Het
Umodl1	G	A	17: 31,008,766		probably null	Het
Usp17la	A	C	7: 104,861,171	T328P	probably damaging	Het
Vmn2r113	T	A	17: 22,958,249	L669*	probably null	Het
Vps13b	T	A	15: 35,841,447	V2541E	probably damaging	Het
Wnt3	T	C	11: 103,812,285	I198T	probably damaging	Het
Zfp316	T	C	5: 143,263,406	E158G	unknown	Het
Zfp362	T	G	4: 128,786,987	I182L	possibly damaging	Het
Zfp804a	A	G	2: 82,257,366	D513G	probably benign	Het
Zfp879	C	T	11: 50,832,601	E543K	probably benign	Het
Zfp97	T	A	17: 17,144,756	N172K	possibly damaging	Het
Zmym6	A	T	4: 127,088,415	K82*	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
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
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'- TTCTGCCAGCCAAAACTGCC -3'
(R):5'- TGCCTTCTACCCAGGGAAGAAC -3'

Sequencing Primer
(F):5'- AAAACTGCCCTGTGTGTGAC -3'
(R):5'- ACCCCAAGATGGTGACTGG -3'

Posted On

2014-09-17