Mutagenetix > Incidental Mutations

Incidental Mutation 'R5362:Ano1'

422876

Institutional Source

Beutler Lab

Gene Symbol

Ano1

Ensembl Gene

ENSMUSG00000031075

Gene Name

anoctamin 1, calcium activated chloride channel

Synonyms

Tmem16a

MMRRC Submission

043264-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5362 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144588549-144751974 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to C at 144648600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120306 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033393

SMART Domains

Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075

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

SMART Domains

Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075

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

SMART Domains

Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075

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: S145R

SMART Domains

Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: S145R

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	T	6: 133,294,482	D163V	probably benign	Het
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ankrd17	G	A	5: 90,265,545	A1170V	probably damaging	Het
Atl2	T	C	17: 79,861,461	N37D	probably damaging	Het
C2cd5	T	C	6: 143,083,243	Y90C	probably damaging	Het
Carm1	A	G	9: 21,587,359	N499S	probably benign	Het
Ccdc47	G	A	11: 106,208,213		probably null	Het
Cd300lf	G	T	11: 115,117,114	L251M	probably damaging	Het
Cfap74	A	G	4: 155,438,166	S670G	probably damaging	Het
Clec4a1	A	G	6: 122,932,237	D188G	probably damaging	Het
Col4a1	T	C	8: 11,245,760		probably benign	Het
Csn2	T	A	5: 87,694,649	H165L	probably benign	Het
Dlx3	T	C	11: 95,120,500	V60A	possibly damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fam221a	A	G	6: 49,376,115	H21R	probably damaging	Het
Foxj3	T	A	4: 119,620,143	H349Q	unknown	Het
Gm37240	G	A	3: 84,515,693	T123I	probably damaging	Het
Gpc1	A	T	1: 92,854,893	T121S	probably benign	Het
Ikbkap	A	C	4: 56,778,969	I616S	probably damaging	Het
Itga2b	A	G	11: 102,461,135	V512A	probably damaging	Het
Itgae	A	G	11: 73,111,849	Y144C	probably damaging	Het
Izumo3	A	T	4: 92,146,800	I60K	possibly damaging	Het
Kif9	G	A	9: 110,489,944	V159M	probably damaging	Het
Lrp1b	T	C	2: 41,375,902	D229G	probably damaging	Het
Nkpd1	G	A	7: 19,523,268	G324D	probably damaging	Het
Nrp2	T	A	1: 62,769,062	Y617N	probably benign	Het
Ocm	T	C	5: 144,023,856	D91G	probably damaging	Het
Olfr600	A	G	7: 103,346,247	V227A	probably damaging	Het
Olfr667	A	G	7: 104,916,627	I223T	probably damaging	Het
Olfr724	A	G	14: 49,960,529	L181P	possibly damaging	Het
Olfr814	T	C	10: 129,874,553	E68G	probably damaging	Het
Pex5l	G	A	3: 32,992,916	A295V	probably damaging	Het
Plekhg4	T	A	8: 105,381,398	V1029E	possibly damaging	Het
Pou2f2	G	A	7: 25,092,895	P512S	probably benign	Het
Prpf8	G	A	11: 75,506,410	R2023Q	possibly damaging	Het
Ptprd	A	T	4: 76,128,813	S399R	probably damaging	Het
Qrich2	T	C	11: 116,447,150	Y1889C	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Ranbp6	G	T	19: 29,811,728	T408K	probably benign	Het
Scn7a	G	A	2: 66,699,998	R668C	probably damaging	Het
Sertad4	T	C	1: 192,847,106	N134S	probably damaging	Het
Spg11	G	T	2: 122,061,000	N1963K	probably damaging	Het
Svil	C	T	18: 5,057,345	P598S	probably damaging	Het
Top2a	T	C	11: 99,018,912	N120S	probably damaging	Het
Trappc9	C	T	15: 73,058,217	E97K	possibly damaging	Het
Vmn1r91	A	T	7: 20,101,461	T102S	probably benign	Het
Vmn2r99	G	T	17: 19,379,339	M428I	probably benign	Het
Zfp62	A	T	11: 49,216,612	H510L	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
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
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'- GGCAGAACAGTTCAGTCACC -3'
(R):5'- TTCTCCTATGCCAGTGTGGG -3'

Sequencing Primer
(F):5'- TGGATTCACCAGCTACCCC -3'
(R):5'- GCCAAGAAAGGGCCCAGC -3'

Posted On

2016-08-04