Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00918:Ano1'

27799

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 #

IGL00918

Quality Score

Status

Chromosome

Chromosomal Location

144142286-144305711 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 144198489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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

probably benign
Transcript: ENSMUST00000152531

SMART Domains

Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075

Domain	Start	End	E-Value	Type
Pfam:Anoct_dimer	2	205	4.4e-64	PFAM
Pfam:Anoctamin	208	335	3e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208985

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C6	T	C	15: 4,764,739 (GRCm39)	L145P	possibly damaging	Het
Cfap43	A	T	19: 47,885,100 (GRCm39)	L505H	probably damaging	Het
Irag2	A	G	6: 145,113,720 (GRCm39)	E296G	probably damaging	Het
Plekhg6	T	A	6: 125,349,514 (GRCm39)	E361V	probably null	Het
Pnp	T	A	14: 51,188,459 (GRCm39)	M233K	probably benign	Het
Ptpre	T	C	7: 135,260,782 (GRCm39)	S140P	probably damaging	Het
Rgs3	C	T	4: 62,619,304 (GRCm39)	T463I	probably damaging	Het
Rragc	T	C	4: 123,813,636 (GRCm39)		probably benign	Het
Taar6	C	A	10: 23,861,480 (GRCm39)	C22F	probably damaging	Het
Taok2	T	A	7: 126,471,583 (GRCm39)	Q532L	probably damaging	Het
Tas2r130	T	C	6: 131,607,234 (GRCm39)	N187S	probably 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
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
IGL01926:Ano1	APN	7	144,164,612 (GRCm39)	missense	possibly damaging	0.94
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

2013-04-17