Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01786:Ano3'

278915

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano3

Ensembl Gene

ENSMUSG00000074968

Gene Name

anoctamin 3

Synonyms

Tmem16c, B230324K02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01786

Quality Score

Status

Chromosome

Chromosomal Location

110655201-110950923 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110682715 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 645 (Q645L)

Ref Sequence

ENSEMBL: ENSMUSP00000097219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099623]

AlphaFold

A2AHL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099623
AA Change: Q645L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: Q645L

Domain	Start	End	E-Value	Type
Pfam:Anoct_dimer	156	381	2.9e-70	PFAM
Pfam:Anoctamin	384	950	4.4e-138	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	T	A	8: 24,996,839 (GRCm38)	H20L	probably damaging	Het
Clasp1	T	A	1: 118,497,736 (GRCm38)	L272Q	possibly damaging	Het
Corin	T	C	5: 72,339,876 (GRCm38)	N532S	probably damaging	Het
Ddx1	A	T	12: 13,229,136 (GRCm38)	D468E	probably benign	Het
Hk2	A	G	6: 82,739,553 (GRCm38)	S333P	probably benign	Het
Kctd19	T	C	8: 105,390,304 (GRCm38)	T398A	probably benign	Het
Klra8	T	A	6: 130,119,068 (GRCm38)		probably null	Het
Mcm8	A	G	2: 132,827,948 (GRCm38)	D314G	probably benign	Het
Mga	T	A	2: 119,902,912 (GRCm38)	D80E	probably damaging	Het
Mylk3	T	C	8: 85,359,317 (GRCm38)	Q36R	probably benign	Het
Myom2	T	C	8: 15,106,330 (GRCm38)	S726P	probably damaging	Het
Nuf2	T	C	1: 169,510,483 (GRCm38)	S242G	possibly damaging	Het
Nup210l	T	A	3: 90,122,776 (GRCm38)	Y265*	probably null	Het
Olfr1445	C	T	19: 12,884,277 (GRCm38)	T132I	probably damaging	Het
Olfr530	T	A	7: 140,373,125 (GRCm38)	M162L	probably benign	Het
Otud3	T	C	4: 138,896,897 (GRCm38)	D278G	probably benign	Het
Papolg	A	G	11: 23,874,488 (GRCm38)	V298A	probably damaging	Het
Phc1	T	C	6: 122,319,520 (GRCm38)	D847G	possibly damaging	Het
Pkd2l1	A	G	19: 44,191,442 (GRCm38)	F110L	probably damaging	Het
Plxnd1	T	A	6: 115,959,935 (GRCm38)	T1638S	probably damaging	Het
Polr3a	G	A	14: 24,484,120 (GRCm38)	Q106*	probably null	Het
Rnf32	T	C	5: 29,206,814 (GRCm38)		probably benign	Het
Slc30a9	A	G	5: 67,346,238 (GRCm38)		probably benign	Het
Slc44a2	A	G	9: 21,352,486 (GRCm38)	Y650C	probably damaging	Het
Sv2a	A	T	3: 96,188,209 (GRCm38)	Y306F	probably benign	Het
Tmem50a	T	C	4: 134,898,447 (GRCm38)	E153G	probably damaging	Het
Tor1a	A	G	2: 30,963,703 (GRCm38)		probably null	Het
Tusc5	G	A	11: 76,680,466 (GRCm38)	V103I	probably benign	Het
Usp20	A	G	2: 31,017,163 (GRCm38)	E594G	probably benign	Het

Other mutations in Ano3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Ano3	APN	2	110,771,050 (GRCm38)	splice site	probably benign
IGL01066:Ano3	APN	2	110,661,445 (GRCm38)	missense	probably null	0.00
IGL01696:Ano3	APN	2	110,667,737 (GRCm38)	missense	probably damaging	1.00
IGL01729:Ano3	APN	2	110,781,394 (GRCm38)	splice site	probably null
IGL01785:Ano3	APN	2	110,682,715 (GRCm38)	missense	probably damaging	1.00
IGL01992:Ano3	APN	2	110,658,219 (GRCm38)	missense	probably damaging	1.00
IGL02098:Ano3	APN	2	110,666,441 (GRCm38)	nonsense	probably null
IGL02333:Ano3	APN	2	110,697,199 (GRCm38)	splice site	probably benign
IGL02346:Ano3	APN	2	110,770,926 (GRCm38)	splice site	probably benign
IGL02352:Ano3	APN	2	110,884,943 (GRCm38)	nonsense	probably null
IGL02359:Ano3	APN	2	110,884,943 (GRCm38)	nonsense	probably null
IGL02544:Ano3	APN	2	110,658,249 (GRCm38)	missense	possibly damaging	0.79
IGL02750:Ano3	APN	2	110,665,984 (GRCm38)	splice site	probably benign
IGL02861:Ano3	APN	2	110,738,812 (GRCm38)	missense	probably damaging	1.00
IGL02948:Ano3	APN	2	110,697,018 (GRCm38)	splice site	probably benign
IGL03327:Ano3	APN	2	110,697,178 (GRCm38)	missense	possibly damaging	0.62
3-1:Ano3	UTSW	2	110,697,124 (GRCm38)	missense	probably damaging	1.00
IGL02988:Ano3	UTSW	2	110,775,010 (GRCm38)	missense	probably damaging	1.00
IGL03147:Ano3	UTSW	2	110,697,418 (GRCm38)	missense	probably damaging	1.00
R0349:Ano3	UTSW	2	110,661,487 (GRCm38)	missense	probably damaging	1.00
R0426:Ano3	UTSW	2	110,661,174 (GRCm38)	missense	probably damaging	1.00
R0523:Ano3	UTSW	2	110,884,855 (GRCm38)	missense	probably benign	0.13
R0557:Ano3	UTSW	2	110,862,952 (GRCm38)	splice site	probably null
R0611:Ano3	UTSW	2	110,885,001 (GRCm38)	missense	possibly damaging	0.93
R0891:Ano3	UTSW	2	110,697,976 (GRCm38)	missense	probably benign	0.03
R1459:Ano3	UTSW	2	110,880,829 (GRCm38)	missense	probably benign	0.00
R1460:Ano3	UTSW	2	110,682,758 (GRCm38)	missense	probably damaging	0.97
R1773:Ano3	UTSW	2	110,761,455 (GRCm38)	missense	probably damaging	1.00
R1874:Ano3	UTSW	2	110,884,872 (GRCm38)	missense	probably benign	0.00
R1919:Ano3	UTSW	2	110,885,007 (GRCm38)	missense	probably benign
R2185:Ano3	UTSW	2	110,775,045 (GRCm38)	missense	probably benign	0.01
R2280:Ano3	UTSW	2	110,682,759 (GRCm38)	missense	probably benign	0.22
R2281:Ano3	UTSW	2	110,682,759 (GRCm38)	missense	probably benign	0.22
R2348:Ano3	UTSW	2	110,783,743 (GRCm38)	missense	possibly damaging	0.82
R2425:Ano3	UTSW	2	110,862,843 (GRCm38)	missense	probably benign
R2697:Ano3	UTSW	2	110,794,960 (GRCm38)	missense	possibly damaging	0.79
R3888:Ano3	UTSW	2	110,885,000 (GRCm38)	missense	probably damaging	0.99
R3923:Ano3	UTSW	2	110,770,959 (GRCm38)	missense	probably damaging	1.00
R4352:Ano3	UTSW	2	110,745,894 (GRCm38)	missense	possibly damaging	0.74
R4447:Ano3	UTSW	2	110,761,578 (GRCm38)	splice site	probably null
R4790:Ano3	UTSW	2	110,884,919 (GRCm38)	missense	probably benign
R4832:Ano3	UTSW	2	110,667,722 (GRCm38)	missense	probably damaging	1.00
R4916:Ano3	UTSW	2	110,771,020 (GRCm38)	missense	possibly damaging	0.74
R5113:Ano3	UTSW	2	110,661,480 (GRCm38)	missense	possibly damaging	0.61
R5486:Ano3	UTSW	2	110,745,870 (GRCm38)	missense	probably damaging	1.00
R5498:Ano3	UTSW	2	110,697,103 (GRCm38)	missense	possibly damaging	0.68
R5589:Ano3	UTSW	2	110,884,995 (GRCm38)	missense	probably damaging	0.99
R5627:Ano3	UTSW	2	110,756,953 (GRCm38)	missense	possibly damaging	0.61
R5741:Ano3	UTSW	2	110,658,273 (GRCm38)	missense	probably benign	0.11
R5767:Ano3	UTSW	2	110,661,271 (GRCm38)	missense	probably damaging	1.00
R5883:Ano3	UTSW	2	110,880,864 (GRCm38)	missense	probably null	0.15
R5899:Ano3	UTSW	2	110,862,887 (GRCm38)	missense	probably benign	0.39
R5916:Ano3	UTSW	2	110,681,836 (GRCm38)	missense	probably benign	0.29
R6158:Ano3	UTSW	2	110,665,875 (GRCm38)	missense	probably damaging	1.00
R6315:Ano3	UTSW	2	110,697,039 (GRCm38)	missense	probably damaging	1.00
R6401:Ano3	UTSW	2	110,775,114 (GRCm38)	missense	probably benign	0.01
R6481:Ano3	UTSW	2	110,795,027 (GRCm38)	missense	probably benign	0.16
R6482:Ano3	UTSW	2	110,697,055 (GRCm38)	missense	probably damaging	1.00
R6587:Ano3	UTSW	2	110,797,904 (GRCm38)	splice site	probably null
R6811:Ano3	UTSW	2	110,880,867 (GRCm38)	missense	probably benign	0.03
R7048:Ano3	UTSW	2	110,682,771 (GRCm38)	nonsense	probably null
R7145:Ano3	UTSW	2	110,862,860 (GRCm38)	missense	probably benign	0.31
R7207:Ano3	UTSW	2	110,781,423 (GRCm38)	missense	probably damaging	0.96
R7215:Ano3	UTSW	2	110,665,932 (GRCm38)	missense	probably damaging	1.00
R7366:Ano3	UTSW	2	110,757,067 (GRCm38)	missense	probably damaging	1.00
R7371:Ano3	UTSW	2	110,884,849 (GRCm38)	critical splice donor site	probably null
R7568:Ano3	UTSW	2	110,950,293 (GRCm38)	start gained	probably benign
R7636:Ano3	UTSW	2	110,682,703 (GRCm38)	nonsense	probably null
R7888:Ano3	UTSW	2	110,666,428 (GRCm38)	missense	probably damaging	1.00
R7992:Ano3	UTSW	2	110,775,022 (GRCm38)	missense	possibly damaging	0.77
R8024:Ano3	UTSW	2	110,667,783 (GRCm38)	missense	probably damaging	0.99
R8074:Ano3	UTSW	2	110,950,232 (GRCm38)	start gained	probably benign
R8111:Ano3	UTSW	2	110,783,713 (GRCm38)	missense	possibly damaging	0.95
R8177:Ano3	UTSW	2	110,666,456 (GRCm38)	missense	probably damaging	1.00
R8297:Ano3	UTSW	2	110,661,271 (GRCm38)	missense	probably damaging	1.00
R8485:Ano3	UTSW	2	110,667,855 (GRCm38)	critical splice acceptor site	probably null
R8509:Ano3	UTSW	2	110,665,835 (GRCm38)	missense	possibly damaging	0.50
R8870:Ano3	UTSW	2	110,783,729 (GRCm38)	missense	probably benign	0.12
R9071:Ano3	UTSW	2	110,795,073 (GRCm38)	critical splice acceptor site	probably null
R9072:Ano3	UTSW	2	110,745,898 (GRCm38)	missense	probably benign	0.06
R9073:Ano3	UTSW	2	110,745,898 (GRCm38)	missense	probably benign	0.06
R9315:Ano3	UTSW	2	110,697,942 (GRCm38)	missense	probably damaging	0.97
R9376:Ano3	UTSW	2	110,666,437 (GRCm38)	missense	probably damaging	1.00
R9588:Ano3	UTSW	2	110,697,997 (GRCm38)	missense	possibly damaging	0.91
R9697:Ano3	UTSW	2	110,665,908 (GRCm38)	missense	probably damaging	1.00
R9716:Ano3	UTSW	2	110,771,031 (GRCm38)	missense	probably damaging	0.97
R9748:Ano3	UTSW	2	110,658,295 (GRCm38)	missense	probably damaging	1.00
RF012:Ano3	UTSW	2	110,697,523 (GRCm38)	missense	possibly damaging	0.83
RF013:Ano3	UTSW	2	110,697,036 (GRCm38)	missense	probably benign	0.30
X0058:Ano3	UTSW	2	110,697,418 (GRCm38)	missense	probably damaging	1.00
Z1088:Ano3	UTSW	2	110,745,847 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16