Mutagenetix > Incidental Mutation

Incidental Mutation 'R6909:Ano1'

538925

Institutional Source

Beutler Lab

Gene Symbol

Ano1

Ensembl Gene

ENSMUSG00000031075

Gene Name

anoctamin 1, calcium activated chloride channel

Synonyms

Tmem16a

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6909 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144588549-144751974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144655731 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 211 (T211M)

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

possibly damaging
Transcript: ENSMUST00000033393
AA Change: T187M

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: T187M

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: T245M

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: T245M

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: T244M

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: T244M

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

possibly damaging
Transcript: ENSMUST00000131731
AA Change: T187M

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118206
Gene: ENSMUSG00000031075
AA Change: T187M

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: T52M

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: T211M

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120306
Gene: ENSMUSG00000031075
AA Change: T211M

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	G	T	11: 110,115,497	Q1261K	probably benign	Het
Acpp	T	C	9: 104,300,965	Y329C	probably damaging	Het
Agrn	G	T	4: 156,177,007	H585N	possibly damaging	Het
Atic	T	G	1: 71,576,846		probably null	Het
Catsperd	T	A	17: 56,650,781	S229R	probably damaging	Het
Ccdc173	A	T	2: 69,781,848		probably null	Het
Cmya5	T	C	13: 93,091,252	T2443A	probably benign	Het
Dysf	A	T	6: 84,192,938	E1772V	probably damaging	Het
Eps8l1	T	A	7: 4,469,900	L107*	probably null	Het
Fam92a	T	C	4: 12,168,309	T97A	probably benign	Het
Fpr3	T	A	17: 17,971,167	F233L	probably benign	Het
Gjc2	A	T	11: 59,177,092	V188E	unknown	Het
Gm45861	T	A	8: 27,527,081	Y690N	unknown	Het
Gm8251	C	T	1: 44,059,775	R721Q	possibly damaging	Het
Gsdma2	T	A	11: 98,652,557	C224*	probably null	Het
Gucy2d	T	A	7: 98,467,625	Y881N	probably damaging	Het
Hcn3	A	G	3: 89,152,629		probably null	Het
Hectd1	G	T	12: 51,764,162		probably null	Het
Ifitm5	A	G	7: 140,949,259	F146L	probably benign	Het
Impg2	T	C	16: 56,204,584	F18S	probably damaging	Het
Ino80c	T	A	18: 24,108,755		probably benign	Het
Itga10	A	G	3: 96,662,599	H1109R	probably benign	Het
Kdm3b	T	A	18: 34,827,328		probably null	Het
Klra8	T	G	6: 130,125,160	N104T	probably benign	Het
Llgl2	G	A	11: 115,850,799	C585Y	probably damaging	Het
Lmod2	T	A	6: 24,604,158	D377E	probably benign	Het
Lrat	G	A	3: 82,903,654	S20F	probably damaging	Het
Lrrc43	T	A	5: 123,500,419	H363Q	probably benign	Het
Lyst	T	G	13: 13,743,375	I3340S	probably damaging	Het
Magi1	C	A	6: 93,697,320	G948W	probably damaging	Het
Map3k4	A	C	17: 12,270,985	F520V	probably damaging	Het
Mcm4	A	T	16: 15,628,697	N607K	probably damaging	Het
Mta3	T	C	17: 83,766,551	V216A	possibly damaging	Het
Ncor1	C	A	11: 62,329,486	G2131V	probably damaging	Het
Olfr1123	A	G	2: 87,418,615	H189R	probably damaging	Het
Olfr1155	A	G	2: 87,942,690	S313P	probably benign	Het
Olfr373	T	A	8: 72,100,528	V256E	possibly damaging	Het
Olfr827	T	A	10: 130,210,753	I126L	probably benign	Het
Pramef8	T	C	4: 143,417,909	L275P	probably damaging	Het
Ptpn2	A	T	18: 67,675,971		probably null	Het
Scn10a	A	G	9: 119,609,790	I1671T	probably damaging	Het
Scyl2	A	T	10: 89,645,742	S622T	probably benign	Het
Sim1	C	T	10: 50,909,410	R192C	possibly damaging	Het
Skor2	A	G	18: 76,860,557	H658R	possibly damaging	Het
Slc10a5	A	G	3: 10,335,595	S2P	possibly damaging	Het
Slc37a4	A	T	9: 44,400,034	K207N	possibly damaging	Het
Syne2	G	T	12: 76,064,195	V5768L	probably benign	Het
Tdpoz3	T	A	3: 93,826,465	V149E	probably damaging	Het
Tekt5	T	C	16: 10,358,301	N460S	probably damaging	Het
Tk2	G	T	8: 104,236,810	Y142*	probably null	Het
Tkfc	T	A	19: 10,596,266	Q236L	probably benign	Het
Tln2	G	A	9: 67,392,532	T148I	probably damaging	Het
Trim62	A	G	4: 128,884,228	D20G	probably damaging	Het
Tspan14	A	C	14: 40,913,441	V166G	probably benign	Het
Ttn	A	T	2: 76,881,721		probably benign	Het
Vmn1r217	T	A	13: 23,113,938	M265L	probably benign	Het
Vmn2r117	C	G	17: 23,479,505	Q31H	possibly damaging	Het
Wdr66	A	G	5: 123,287,752	Y418C	probably damaging	Het
Zfp72	T	C	13: 74,371,742	T406A	possibly 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
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
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
R9572:Ano1	UTSW	7	144650556	critical splice acceptor site	probably null
R9668:Ano1	UTSW	7	144610842	critical splice donor site	probably null
R9681:Ano1	UTSW	7	144590156	missense	possibly damaging	0.68
R9756:Ano1	UTSW	7	144608929	missense	probably benign	0.45
R9780:Ano1	UTSW	7	144655621	missense	probably damaging	1.00
R9792:Ano1	UTSW	7	144621697	missense	probably damaging	1.00
R9793:Ano1	UTSW	7	144621697	missense	probably damaging	1.00
R9795:Ano1	UTSW	7	144621697	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACATGTTCCCCTGTTCGG -3'
(R):5'- GCCAGCCAAGAATAGGTACTC -3'

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

Posted On

2018-11-06