Mutagenetix > Incidental Mutations

Incidental Mutation 'R7420:Ano1'

575603

Institutional Source

Beutler Lab

Gene Symbol

Ano1

Ensembl Gene

ENSMUSG00000031075

Gene Name

anoctamin 1, calcium activated chloride channel

Synonyms

Tmem16a

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7420 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144588549-144751974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144655641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 274 (T274I)

Ref Sequence

ENSEMBL: ENSMUSP00000112616 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033393
AA Change: T217I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: T217I

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: T275I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: T275I

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: T274I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: T274I

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
AA Change: T217I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118206
Gene: ENSMUSG00000031075
AA Change: T217I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152531
AA Change: T82I

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: T82I

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
AA Change: T241I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120306
Gene: ENSMUSG00000031075
AA Change: T241I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

95% (54/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	C	T	13: 64,297,317	G164D	possibly damaging	Het
Abca6	A	G	11: 110,250,477	V6A	probably benign	Het
Adam29	T	A	8: 55,872,898	M174L	probably benign	Het
Atad5	A	T	11: 80,095,862	T592S	probably benign	Het
Bud13	C	T	9: 46,287,815	P158L	probably benign	Het
Card19	T	C	13: 49,208,137	Y6C	probably damaging	Het
Cd36	C	G	5: 17,788,274	V393L	probably benign	Het
Cd79a	A	T	7: 24,897,546	R9*	probably null	Het
Cep164	T	C	9: 45,768,542	H1131R	probably benign	Het
Chia1	T	A	3: 106,130,664	S321T	probably benign	Het
Chrnd	T	A	1: 87,194,821	V217E	possibly damaging	Het
Cmtm7	T	C	9: 114,763,394		probably null	Het
Csn1s2a	T	C	5: 87,780,006	S60P	possibly damaging	Het
Defa30	T	A	8: 21,135,455	N78K	probably benign	Het
Dnah2	C	T	11: 69,478,797	A1618T	possibly damaging	Het
Dnah9	A	G	11: 66,117,407		probably null	Het
Epn1	A	T	7: 5,097,688	T546S	possibly damaging	Het
Fam135a	A	G	1: 24,012,486	S1443P	possibly damaging	Het
Fam13b	G	T	18: 34,494,611	P179Q	probably damaging	Het
Git2	T	C	5: 114,730,370	T647A	probably benign	Het
Gli2	T	C	1: 118,835,939	N1494S	probably benign	Het
Gm4952	G	A	19: 12,626,901	G226R	probably damaging	Het
Gm5460	T	A	14: 34,036,757	F156I	probably damaging	Het
Gm884	A	T	11: 103,613,625	S2506T	probably benign	Het
Heatr5b	A	T	17: 78,808,480	V849D	probably damaging	Het
Hepacam	A	G	9: 37,380,709	D111G	probably benign	Het
Hk1	T	C	10: 62,269,982	D895G	probably damaging	Het
Kdm5b	T	C	1: 134,604,497	V471A	probably benign	Het
Klhdc8b	A	G	9: 108,449,118	Y239H	possibly damaging	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Krt82	T	C	15: 101,545,587	T229A	probably damaging	Het
Lztr1	T	C	16: 17,524,129	L656P	probably damaging	Het
Mfrp	T	C	9: 44,102,476		probably benign	Het
Mrvi1	A	T	7: 110,871,473	Y678*	probably null	Het
Nfe2l1	A	G	11: 96,819,913	S497P	probably benign	Het
Olfr694	G	A	7: 106,689,020	A237V	possibly damaging	Het
Olfr907	G	T	9: 38,499,063	L131F	probably benign	Het
Otud4	C	A	8: 79,664,108	T418K	probably benign	Het
Pcdhb21	A	G	18: 37,515,203	N462D	probably damaging	Het
Plch1	A	G	3: 63,722,857	S497P	probably damaging	Het
Plekha8	T	C	6: 54,613,194	V48A	probably damaging	Het
Ppp2r5d	A	T	17: 46,687,581	F121L	probably null	Het
Sdad1	G	A	5: 92,305,737	A64V	possibly damaging	Het
Selenop	G	T	15: 3,279,570	A335S	probably damaging	Het
Shc3	T	C	13: 51,431,235	N448S	probably benign	Het
Shcbp1	G	A	8: 4,748,737	T394I	probably benign	Het
Slc39a11	G	T	11: 113,247,822	A276E	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Speg	T	A	1: 75,430,905	S3185R	probably damaging	Het
Tmem100	A	T	11: 90,035,753	*135Y	probably null	Het
Ube2o	A	T	11: 116,540,072	F1001I	probably damaging	Het
Usp7	T	C	16: 8,710,121	D148G	probably benign	Het
Vmn2r16	A	G	5: 109,363,870	T648A	probably damaging	Het
Vmn2r67	A	G	7: 85,136,736	L687P	possibly damaging	Het
Zcchc14	ACCGCCGCCGCCGCCGCC	ACCGCCGCCGCCGCC	8: 121,651,791		probably benign	Het
Zfp800	A	G	6: 28,243,719	S416P	probably benign	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
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
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'- AGGCAAAATTCTGCAATCCCTC -3'
(R):5'- CGCCAGCCAAGAATAGGTAC -3'

Sequencing Primer
(F):5'- GCAAAATTCTGCAATCCCTCTCTCC -3'
(R):5'- CCTCGCAGTTTATGGAGATACAGC -3'

Posted On

2019-10-07