Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01926:Ano1'

180310

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano1

Ensembl Gene

ENSMUSG00000031075

Gene Name

anoctamin 1, calcium activated chloride channel

Synonyms

Tmem16a

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01926

Quality Score

Status

Chromosome

Chromosomal Location

144142286-144305711 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 144164612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 671 (V671M)

Ref Sequence

ENSEMBL: ENSMUSP00000112616 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033393
AA Change: V610M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: V610M

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: V668M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: V668M

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: V671M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: V671M

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

noncoding transcript
Transcript: ENSMUST00000131571

Coding Region Coverage

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,026,155 (GRCm39)		probably benign	Het
Atf7ip2	G	T	16: 10,059,749 (GRCm39)	D430Y	probably damaging	Het
Atp7b	A	T	8: 22,501,797 (GRCm39)	D740E	probably damaging	Het
Bbs1	A	C	19: 4,952,891 (GRCm39)	S191A	probably benign	Het
Capn5	C	T	7: 97,777,679 (GRCm39)		probably null	Het
Cyp2c40	A	G	19: 39,791,099 (GRCm39)	I244T	probably benign	Het
Dsg1a	G	T	18: 20,466,641 (GRCm39)	D504Y	possibly damaging	Het
Eif3a	T	C	19: 60,758,399 (GRCm39)	D793G	unknown	Het
Exoc4	C	A	6: 33,839,077 (GRCm39)	D704E	probably damaging	Het
Fmo5	A	C	3: 97,544,797 (GRCm39)	T109P	probably damaging	Het
Ggt5	A	G	10: 75,439,935 (GRCm39)	I179V	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Irs1	G	T	1: 82,267,680 (GRCm39)	R179S	probably damaging	Het
Jmy	A	T	13: 93,596,294 (GRCm39)	V445E	probably damaging	Het
Jup	C	A	11: 100,274,412 (GRCm39)	V93F	probably benign	Het
Krt20	T	C	11: 99,328,652 (GRCm39)	Y91C	probably damaging	Het
Mug2	T	A	6: 122,013,063 (GRCm39)		probably benign	Het
Mybpc3	C	T	2: 90,965,752 (GRCm39)	T1188I	possibly damaging	Het
Myt1	T	C	2: 181,463,790 (GRCm39)	L1032P	probably benign	Het
Naip6	A	T	13: 100,436,704 (GRCm39)	N606K	probably damaging	Het
Nfrkb	A	T	9: 31,325,475 (GRCm39)	M973L	probably benign	Het
Or5aq6	C	T	2: 86,923,318 (GRCm39)	C141Y	probably damaging	Het
Or5b120	A	T	19: 13,480,105 (GRCm39)	T133S	possibly damaging	Het
Parp8	T	C	13: 116,998,838 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,471,642 (GRCm39)	M131K	probably benign	Het
Pomt1	T	A	2: 32,133,484 (GRCm39)	S207T	probably benign	Het
Prlr	T	A	15: 10,314,306 (GRCm39)	M1K	probably null	Het
Prr15	A	G	6: 54,306,490 (GRCm39)	K83E	probably damaging	Het
Rnf4	A	G	5: 34,504,123 (GRCm39)	N5S	probably benign	Het
Sel1l3	T	A	5: 53,357,485 (GRCm39)	H169L	probably benign	Het
Slc24a5	A	G	2: 124,910,823 (GRCm39)	I85V	probably benign	Het
Tmc2	T	C	2: 130,102,160 (GRCm39)	I775T	possibly damaging	Het
Trnau1ap	A	T	4: 132,046,873 (GRCm39)	F141L	probably benign	Het
Zscan4d	A	G	7: 10,898,921 (GRCm39)	C119R	probably damaging	Het
Zswim9	A	T	7: 12,994,248 (GRCm39)	V636D	possibly damaging	Het

Other mutations in Ano1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Ano1	APN	7	144,192,250 (GRCm39)	missense	probably damaging	1.00
IGL00754:Ano1	APN	7	144,150,968 (GRCm39)	missense	probably damaging	0.98
IGL00780:Ano1	APN	7	144,209,367 (GRCm39)	missense	probably damaging	0.99
IGL00918:Ano1	APN	7	144,198,489 (GRCm39)	splice site	probably benign
IGL01112:Ano1	APN	7	144,190,882 (GRCm39)	missense	possibly damaging	0.52
IGL01285:Ano1	APN	7	144,198,479 (GRCm39)	missense	probably benign	0.00
IGL01285:Ano1	APN	7	144,149,275 (GRCm39)	missense	probably damaging	0.98
IGL01308:Ano1	APN	7	144,149,235 (GRCm39)	missense	probably damaging	0.99
IGL01407:Ano1	APN	7	144,190,848 (GRCm39)	missense	probably benign	0.22
IGL01672:Ano1	APN	7	144,209,412 (GRCm39)	missense	probably damaging	0.96
IGL01920:Ano1	APN	7	144,165,191 (GRCm39)	splice site	probably benign
IGL02164:Ano1	APN	7	144,190,918 (GRCm39)	missense	possibly damaging	0.91
IGL02190:Ano1	APN	7	144,172,620 (GRCm39)	missense	probably benign	0.41
IGL02214:Ano1	APN	7	144,209,445 (GRCm39)	missense	possibly damaging	0.80
IGL02299:Ano1	APN	7	144,143,812 (GRCm39)	missense	possibly damaging	0.80
IGL02567:Ano1	APN	7	144,165,362 (GRCm39)	missense	probably damaging	1.00
IGL03131:Ano1	APN	7	144,157,322 (GRCm39)	missense	possibly damaging	0.90
IGL03291:Ano1	APN	7	144,175,412 (GRCm39)	missense	probably damaging	1.00
IGL03299:Ano1	APN	7	144,207,993 (GRCm39)	missense	probably damaging	1.00
IGL03394:Ano1	APN	7	144,149,176 (GRCm39)	splice site	probably null
PIT4434001:Ano1	UTSW	7	144,164,632 (GRCm39)	missense	probably benign	0.28
R0502:Ano1	UTSW	7	144,150,952 (GRCm39)	missense	probably damaging	1.00
R0595:Ano1	UTSW	7	144,143,890 (GRCm39)	missense	possibly damaging	0.94
R0732:Ano1	UTSW	7	144,173,225 (GRCm39)	critical splice acceptor site	probably null
R0970:Ano1	UTSW	7	144,149,308 (GRCm39)	missense	probably benign	0.02
R0988:Ano1	UTSW	7	144,187,390 (GRCm39)	missense	possibly damaging	0.94
R1074:Ano1	UTSW	7	144,165,417 (GRCm39)	missense	probably damaging	0.98
R1301:Ano1	UTSW	7	144,187,426 (GRCm39)	missense	possibly damaging	0.60
R1528:Ano1	UTSW	7	144,149,303 (GRCm39)	missense	probably damaging	1.00
R2018:Ano1	UTSW	7	144,207,987 (GRCm39)	missense	probably damaging	1.00
R2056:Ano1	UTSW	7	144,201,789 (GRCm39)	missense	probably damaging	1.00
R2057:Ano1	UTSW	7	144,201,789 (GRCm39)	missense	probably damaging	1.00
R2058:Ano1	UTSW	7	144,201,789 (GRCm39)	missense	probably damaging	1.00
R2059:Ano1	UTSW	7	144,165,127 (GRCm39)	missense	probably damaging	1.00
R2860:Ano1	UTSW	7	144,143,749 (GRCm39)	missense	probably damaging	1.00
R2861:Ano1	UTSW	7	144,143,749 (GRCm39)	missense	probably damaging	1.00
R3770:Ano1	UTSW	7	144,149,306 (GRCm39)	missense	probably damaging	1.00
R3970:Ano1	UTSW	7	144,161,700 (GRCm39)	missense	probably benign	0.00
R4179:Ano1	UTSW	7	144,204,242 (GRCm39)	missense	probably damaging	1.00
R4489:Ano1	UTSW	7	144,165,479 (GRCm39)	missense	probably benign	0.00
R4678:Ano1	UTSW	7	144,223,289 (GRCm39)	missense	probably benign	0.01
R4915:Ano1	UTSW	7	144,165,112 (GRCm39)	missense	possibly damaging	0.69
R5114:Ano1	UTSW	7	144,210,820 (GRCm39)	missense	possibly damaging	0.71
R5362:Ano1	UTSW	7	144,202,337 (GRCm39)	unclassified	probably benign
R5364:Ano1	UTSW	7	144,190,941 (GRCm39)	missense	probably damaging	1.00
R5366:Ano1	UTSW	7	144,207,946 (GRCm39)	missense	possibly damaging	0.85
R5387:Ano1	UTSW	7	144,202,356 (GRCm39)	missense	probably benign
R5762:Ano1	UTSW	7	144,201,774 (GRCm39)	missense	probably damaging	0.99
R5857:Ano1	UTSW	7	144,190,840 (GRCm39)	missense	probably benign	0.02
R6091:Ano1	UTSW	7	144,223,171 (GRCm39)	missense	probably benign	0.12
R6093:Ano1	UTSW	7	144,165,114 (GRCm39)	missense	possibly damaging	0.72
R6177:Ano1	UTSW	7	144,232,478 (GRCm39)	missense	possibly damaging	0.79
R6246:Ano1	UTSW	7	144,187,462 (GRCm39)	missense	possibly damaging	0.82
R6274:Ano1	UTSW	7	144,172,600 (GRCm39)	missense	probably benign	0.01
R6323:Ano1	UTSW	7	144,165,423 (GRCm39)	missense	possibly damaging	0.95
R6574:Ano1	UTSW	7	144,161,653 (GRCm39)	critical splice donor site	probably null
R6782:Ano1	UTSW	7	144,175,424 (GRCm39)	missense	probably damaging	1.00
R6880:Ano1	UTSW	7	144,198,479 (GRCm39)	missense	probably benign	0.00
R6909:Ano1	UTSW	7	144,209,468 (GRCm39)	missense	probably damaging	0.96
R7066:Ano1	UTSW	7	144,190,823 (GRCm39)	missense	probably benign	0.35
R7073:Ano1	UTSW	7	144,192,289 (GRCm39)	missense	probably damaging	0.96
R7146:Ano1	UTSW	7	144,209,393 (GRCm39)	missense	probably benign	0.00
R7420:Ano1	UTSW	7	144,209,378 (GRCm39)	missense	probably benign	0.00
R7874:Ano1	UTSW	7	144,175,461 (GRCm39)	missense	probably damaging	1.00
R8468:Ano1	UTSW	7	144,209,357 (GRCm39)	missense	probably damaging	1.00
R8867:Ano1	UTSW	7	144,223,397 (GRCm39)	missense	possibly damaging	0.66
R8923:Ano1	UTSW	7	144,204,288 (GRCm39)	missense	possibly damaging	0.61
R9215:Ano1	UTSW	7	144,149,342 (GRCm39)	missense	probably damaging	1.00
R9281:Ano1	UTSW	7	144,149,318 (GRCm39)	missense	probably damaging	1.00
R9572:Ano1	UTSW	7	144,204,293 (GRCm39)	critical splice acceptor site	probably null
R9668:Ano1	UTSW	7	144,164,579 (GRCm39)	critical splice donor site	probably null
R9681:Ano1	UTSW	7	144,143,893 (GRCm39)	missense	possibly damaging	0.68
R9756:Ano1	UTSW	7	144,162,666 (GRCm39)	missense	probably benign	0.45
R9780:Ano1	UTSW	7	144,209,358 (GRCm39)	missense	probably damaging	1.00
R9792:Ano1	UTSW	7	144,175,434 (GRCm39)	missense	probably damaging	1.00
R9793:Ano1	UTSW	7	144,175,434 (GRCm39)	missense	probably damaging	1.00
R9795:Ano1	UTSW	7	144,175,434 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07