Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02948:Ano3'

364868

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano3

Ensembl Gene

ENSMUSG00000074968

Gene Name

anoctamin 3

Synonyms

B230324K02Rik, Tmem16c

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02948

Quality Score

Status

Chromosome

Chromosomal Location

110485546-110780854 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 110527363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097219 (fasta)

Gene Model

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

AlphaFold

A2AHL1

Predicted Effect

probably benign
Transcript: ENSMUST00000099623

SMART Domains

Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000111019

SMART Domains

Protein: ENSMUSP00000106648
Gene: ENSMUSG00000074968

Domain	Start	End	E-Value	Type
Pfam:Anoctamin	384	627	6.3e-60	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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,094,318 (GRCm39)		probably benign	Het
Arpp21	T	C	9: 112,005,268 (GRCm39)	Y193C	probably damaging	Het
Atm	G	A	9: 53,364,740 (GRCm39)		probably benign	Het
Ceacam13	C	T	7: 17,744,988 (GRCm39)		probably benign	Het
Cenpi	T	A	X: 133,250,017 (GRCm39)	C599S	possibly damaging	Het
Clec7a	A	C	6: 129,442,441 (GRCm39)	D195E	possibly damaging	Het
Cnksr1	T	C	4: 133,962,417 (GRCm39)		probably null	Het
Cntn1	A	G	15: 92,143,891 (GRCm39)	T285A	probably benign	Het
Dusp4	G	T	8: 35,285,726 (GRCm39)	G329V	probably damaging	Het
Emb	C	A	13: 117,409,602 (GRCm39)		probably benign	Het
Esyt1	A	T	10: 128,355,040 (GRCm39)	S496T	probably damaging	Het
Evpl	T	C	11: 116,112,648 (GRCm39)	T1681A	probably damaging	Het
Fam131b	A	C	6: 42,297,926 (GRCm39)		probably benign	Het
Fam162b	T	C	10: 51,463,392 (GRCm39)	M92V	probably damaging	Het
Fbxw2	T	C	2: 34,695,723 (GRCm39)	*455W	probably null	Het
Gm12886	A	G	4: 121,280,234 (GRCm39)	L14P	unknown	Het
Gpc4	A	T	X: 51,163,178 (GRCm39)	V235E	probably damaging	Het
Gss	A	G	2: 155,419,541 (GRCm39)	L170P	probably damaging	Het
Hbs1l	C	T	10: 21,217,610 (GRCm39)		probably benign	Het
Hhatl	T	C	9: 121,618,857 (GRCm39)	M92V	probably benign	Het
Hhla1	A	T	15: 65,814,542 (GRCm39)	L194H	probably damaging	Het
Hivep2	C	A	10: 14,004,757 (GRCm39)	R452S	probably benign	Het
Homer2	C	A	7: 81,299,393 (GRCm39)	W24L	probably damaging	Het
Lhcgr	A	T	17: 89,050,050 (GRCm39)	L492H	probably damaging	Het
Lrba	C	A	3: 86,217,691 (GRCm39)		probably null	Het
Lrp2	G	T	2: 69,318,181 (GRCm39)	P2090Q	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Madd	T	A	2: 90,973,172 (GRCm39)	M1497L	probably benign	Het
Naprt	C	T	15: 75,764,206 (GRCm39)	R336Q	probably damaging	Het
Nars1	A	G	18: 64,638,266 (GRCm39)	C266R	possibly damaging	Het
Or10v1	T	A	19: 11,874,145 (GRCm39)	Y253*	probably null	Het
Or5k8	T	A	16: 58,644,451 (GRCm39)	Q207L	probably benign	Het
Pard3	A	T	8: 128,032,975 (GRCm39)	T190S	probably benign	Het
Pstpip2	A	G	18: 77,942,507 (GRCm39)	N86S	probably benign	Het
Ptgfrn	T	C	3: 100,980,135 (GRCm39)	T402A	probably benign	Het
Rnf130	T	C	11: 49,943,598 (GRCm39)		probably benign	Het
Ropn1l	T	C	15: 31,451,325 (GRCm39)	D53G	possibly damaging	Het
Rps6ka2	G	A	17: 7,521,849 (GRCm39)		probably null	Het
Rtn2	T	C	7: 19,027,036 (GRCm39)	S17P	probably damaging	Het
Shank2	T	C	7: 143,963,373 (GRCm39)	V327A	probably benign	Het
Slc22a16	T	G	10: 40,449,958 (GRCm39)	Y131*	probably null	Het
Slc28a2	T	A	2: 122,288,458 (GRCm39)	M583K	possibly damaging	Het
Slco1a6	G	T	6: 142,078,961 (GRCm39)		probably null	Het
Slfn8	T	A	11: 82,894,078 (GRCm39)	I854F	probably damaging	Het
Strip1	T	C	3: 107,520,582 (GRCm39)	R823G	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tcl1b5	C	T	12: 105,145,273 (GRCm39)	T79M	probably benign	Het
Tmem104	G	T	11: 115,088,122 (GRCm39)	A36S	probably damaging	Het
Trim55	T	A	3: 19,725,116 (GRCm39)	L211Q	probably damaging	Het
Trim80	T	C	11: 115,332,419 (GRCm39)	W204R	possibly damaging	Het
Ttbk1	G	A	17: 46,757,256 (GRCm39)	T1126I	probably benign	Het
Ubqln2	C	T	X: 152,282,692 (GRCm39)	Q415*	probably null	Het
Unc13a	C	T	8: 72,103,193 (GRCm39)	R931H	possibly damaging	Het
Utp4	T	A	8: 107,621,273 (GRCm39)	S17T	probably benign	Het

Other mutations in Ano3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Ano3	APN	2	110,601,395 (GRCm39)	splice site	probably benign
IGL01066:Ano3	APN	2	110,491,790 (GRCm39)	missense	probably null	0.00
IGL01696:Ano3	APN	2	110,498,082 (GRCm39)	missense	probably damaging	1.00
IGL01729:Ano3	APN	2	110,611,739 (GRCm39)	splice site	probably null
IGL01785:Ano3	APN	2	110,513,060 (GRCm39)	missense	probably damaging	1.00
IGL01786:Ano3	APN	2	110,513,060 (GRCm39)	missense	probably damaging	1.00
IGL01992:Ano3	APN	2	110,488,564 (GRCm39)	missense	probably damaging	1.00
IGL02098:Ano3	APN	2	110,496,786 (GRCm39)	nonsense	probably null
IGL02333:Ano3	APN	2	110,527,544 (GRCm39)	splice site	probably benign
IGL02346:Ano3	APN	2	110,601,271 (GRCm39)	splice site	probably benign
IGL02352:Ano3	APN	2	110,715,288 (GRCm39)	nonsense	probably null
IGL02359:Ano3	APN	2	110,715,288 (GRCm39)	nonsense	probably null
IGL02544:Ano3	APN	2	110,488,594 (GRCm39)	missense	possibly damaging	0.79
IGL02750:Ano3	APN	2	110,496,329 (GRCm39)	splice site	probably benign
IGL02861:Ano3	APN	2	110,569,157 (GRCm39)	missense	probably damaging	1.00
IGL03327:Ano3	APN	2	110,527,523 (GRCm39)	missense	possibly damaging	0.62
3-1:Ano3	UTSW	2	110,527,469 (GRCm39)	missense	probably damaging	1.00
IGL02988:Ano3	UTSW	2	110,605,355 (GRCm39)	missense	probably damaging	1.00
IGL03147:Ano3	UTSW	2	110,527,763 (GRCm39)	missense	probably damaging	1.00
R0349:Ano3	UTSW	2	110,491,832 (GRCm39)	missense	probably damaging	1.00
R0426:Ano3	UTSW	2	110,491,519 (GRCm39)	missense	probably damaging	1.00
R0523:Ano3	UTSW	2	110,715,200 (GRCm39)	missense	probably benign	0.13
R0557:Ano3	UTSW	2	110,693,297 (GRCm39)	splice site	probably null
R0611:Ano3	UTSW	2	110,715,346 (GRCm39)	missense	possibly damaging	0.93
R0891:Ano3	UTSW	2	110,528,321 (GRCm39)	missense	probably benign	0.03
R1459:Ano3	UTSW	2	110,711,174 (GRCm39)	missense	probably benign	0.00
R1460:Ano3	UTSW	2	110,513,103 (GRCm39)	missense	probably damaging	0.97
R1773:Ano3	UTSW	2	110,591,800 (GRCm39)	missense	probably damaging	1.00
R1874:Ano3	UTSW	2	110,715,217 (GRCm39)	missense	probably benign	0.00
R1919:Ano3	UTSW	2	110,715,352 (GRCm39)	missense	probably benign
R2185:Ano3	UTSW	2	110,605,390 (GRCm39)	missense	probably benign	0.01
R2280:Ano3	UTSW	2	110,513,104 (GRCm39)	missense	probably benign	0.22
R2281:Ano3	UTSW	2	110,513,104 (GRCm39)	missense	probably benign	0.22
R2348:Ano3	UTSW	2	110,614,088 (GRCm39)	missense	possibly damaging	0.82
R2425:Ano3	UTSW	2	110,693,188 (GRCm39)	missense	probably benign
R2697:Ano3	UTSW	2	110,625,305 (GRCm39)	missense	possibly damaging	0.79
R3888:Ano3	UTSW	2	110,715,345 (GRCm39)	missense	probably damaging	0.99
R3923:Ano3	UTSW	2	110,601,304 (GRCm39)	missense	probably damaging	1.00
R4352:Ano3	UTSW	2	110,576,239 (GRCm39)	missense	possibly damaging	0.74
R4447:Ano3	UTSW	2	110,591,923 (GRCm39)	splice site	probably null
R4790:Ano3	UTSW	2	110,715,264 (GRCm39)	missense	probably benign
R4832:Ano3	UTSW	2	110,498,067 (GRCm39)	missense	probably damaging	1.00
R4916:Ano3	UTSW	2	110,601,365 (GRCm39)	missense	possibly damaging	0.74
R5113:Ano3	UTSW	2	110,491,825 (GRCm39)	missense	possibly damaging	0.61
R5486:Ano3	UTSW	2	110,576,215 (GRCm39)	missense	probably damaging	1.00
R5498:Ano3	UTSW	2	110,527,448 (GRCm39)	missense	possibly damaging	0.68
R5589:Ano3	UTSW	2	110,715,340 (GRCm39)	missense	probably damaging	0.99
R5627:Ano3	UTSW	2	110,587,298 (GRCm39)	missense	possibly damaging	0.61
R5741:Ano3	UTSW	2	110,488,618 (GRCm39)	missense	probably benign	0.11
R5767:Ano3	UTSW	2	110,491,616 (GRCm39)	missense	probably damaging	1.00
R5883:Ano3	UTSW	2	110,711,209 (GRCm39)	missense	probably null	0.15
R5899:Ano3	UTSW	2	110,693,232 (GRCm39)	missense	probably benign	0.39
R5916:Ano3	UTSW	2	110,512,181 (GRCm39)	missense	probably benign	0.29
R6158:Ano3	UTSW	2	110,496,220 (GRCm39)	missense	probably damaging	1.00
R6315:Ano3	UTSW	2	110,527,384 (GRCm39)	missense	probably damaging	1.00
R6401:Ano3	UTSW	2	110,605,459 (GRCm39)	missense	probably benign	0.01
R6481:Ano3	UTSW	2	110,625,372 (GRCm39)	missense	probably benign	0.16
R6482:Ano3	UTSW	2	110,527,400 (GRCm39)	missense	probably damaging	1.00
R6587:Ano3	UTSW	2	110,628,249 (GRCm39)	splice site	probably null
R6811:Ano3	UTSW	2	110,711,212 (GRCm39)	missense	probably benign	0.03
R7048:Ano3	UTSW	2	110,513,116 (GRCm39)	nonsense	probably null
R7145:Ano3	UTSW	2	110,693,205 (GRCm39)	missense	probably benign	0.31
R7207:Ano3	UTSW	2	110,611,768 (GRCm39)	missense	probably damaging	0.96
R7215:Ano3	UTSW	2	110,496,277 (GRCm39)	missense	probably damaging	1.00
R7366:Ano3	UTSW	2	110,587,412 (GRCm39)	missense	probably damaging	1.00
R7371:Ano3	UTSW	2	110,715,194 (GRCm39)	critical splice donor site	probably null
R7568:Ano3	UTSW	2	110,780,638 (GRCm39)	start gained	probably benign
R7636:Ano3	UTSW	2	110,513,048 (GRCm39)	nonsense	probably null
R7888:Ano3	UTSW	2	110,496,773 (GRCm39)	missense	probably damaging	1.00
R7992:Ano3	UTSW	2	110,605,367 (GRCm39)	missense	possibly damaging	0.77
R8024:Ano3	UTSW	2	110,498,128 (GRCm39)	missense	probably damaging	0.99
R8074:Ano3	UTSW	2	110,780,577 (GRCm39)	start gained	probably benign
R8111:Ano3	UTSW	2	110,614,058 (GRCm39)	missense	possibly damaging	0.95
R8177:Ano3	UTSW	2	110,496,801 (GRCm39)	missense	probably damaging	1.00
R8297:Ano3	UTSW	2	110,491,616 (GRCm39)	missense	probably damaging	1.00
R8485:Ano3	UTSW	2	110,498,200 (GRCm39)	critical splice acceptor site	probably null
R8509:Ano3	UTSW	2	110,496,180 (GRCm39)	missense	possibly damaging	0.50
R8870:Ano3	UTSW	2	110,614,074 (GRCm39)	missense	probably benign	0.12
R9071:Ano3	UTSW	2	110,625,418 (GRCm39)	critical splice acceptor site	probably null
R9072:Ano3	UTSW	2	110,576,243 (GRCm39)	missense	probably benign	0.06
R9073:Ano3	UTSW	2	110,576,243 (GRCm39)	missense	probably benign	0.06
R9315:Ano3	UTSW	2	110,528,287 (GRCm39)	missense	probably damaging	0.97
R9376:Ano3	UTSW	2	110,496,782 (GRCm39)	missense	probably damaging	1.00
R9588:Ano3	UTSW	2	110,528,342 (GRCm39)	missense	possibly damaging	0.91
R9697:Ano3	UTSW	2	110,496,253 (GRCm39)	missense	probably damaging	1.00
R9716:Ano3	UTSW	2	110,601,376 (GRCm39)	missense	probably damaging	0.97
R9748:Ano3	UTSW	2	110,488,640 (GRCm39)	missense	probably damaging	1.00
RF012:Ano3	UTSW	2	110,527,868 (GRCm39)	missense	possibly damaging	0.83
RF013:Ano3	UTSW	2	110,527,381 (GRCm39)	missense	probably benign	0.30
X0058:Ano3	UTSW	2	110,527,763 (GRCm39)	missense	probably damaging	1.00
Z1088:Ano3	UTSW	2	110,576,192 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18