Mutagenetix > Incidental Mutation

Incidental Mutation 'R5883:Ano3'

454502

Institutional Source

Beutler Lab

Gene Symbol

Ano3

Ensembl Gene

ENSMUSG00000074968

Gene Name

anoctamin 3

Synonyms

B230324K02Rik, Tmem16c

MMRRC Submission

044086-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110485546-110780854 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110711209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 85 (E85V)

Ref Sequence

ENSEMBL: ENSMUSP00000097219 (fasta)

Gene Model

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

AlphaFold

A2AHL1

Predicted Effect

probably null
Transcript: ENSMUST00000099623
AA Change: E85V

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: E85V

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

Meta Mutation Damage Score

0.0772

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 95.9%
20x: 83.7%

Validation Efficiency

100% (70/70)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Aass	G	A	6: 23,072,993 (GRCm39)	T920I	probably benign	Het
Akirin2	A	G	4: 34,565,256 (GRCm39)	I168V	possibly damaging	Het
Ambn	T	A	5: 88,615,688 (GRCm39)	Y372*	probably null	Het
Bmf	C	T	2: 118,377,447 (GRCm39)		silent	Het
Bmper	T	A	9: 23,317,970 (GRCm39)	S530T	probably benign	Het
Bop1	T	C	15: 76,339,049 (GRCm39)	D383G	probably damaging	Het
Bub1b	T	A	2: 118,440,363 (GRCm39)	Y156N	probably damaging	Het
Cacna1h	A	G	17: 25,595,896 (GRCm39)	V1987A	probably benign	Het
Cd84	T	C	1: 171,700,405 (GRCm39)	V174A	possibly damaging	Het
Cep290	T	A	10: 100,359,261 (GRCm39)	L997Q	probably benign	Het
Chil4	C	T	3: 106,117,886 (GRCm39)	R128H	possibly damaging	Het
Cpne3	A	T	4: 19,552,314 (GRCm39)	V106D	possibly damaging	Het
D6Wsu163e	A	G	6: 126,943,879 (GRCm39)	E425G	probably damaging	Het
Dlgap1	A	T	17: 70,824,008 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,369,711 (GRCm39)	H4379N	probably damaging	Het
Gm10309	A	G	17: 86,806,185 (GRCm39)		probably benign	Het
Gm6264	G	A	1: 85,148,903 (GRCm39)		probably benign	Het
Has2	T	A	15: 56,531,459 (GRCm39)	I419F	possibly damaging	Het
Hscb	A	G	5: 110,987,444 (GRCm39)	C51R	probably benign	Het
Ighv1-61	T	C	12: 115,323,183 (GRCm39)	S4G	probably benign	Het
Islr2	G	T	9: 58,105,998 (GRCm39)	Q465K	probably benign	Het
Jakmip2	T	C	18: 43,715,059 (GRCm39)	I156V	possibly damaging	Het
Klk1b24	A	G	7: 43,839,787 (GRCm39)	I49V	probably benign	Het
Krt90	C	T	15: 101,461,654 (GRCm39)		probably benign	Het
Larp1	C	T	11: 57,933,125 (GRCm39)	S243F	probably damaging	Het
Lrp4	T	C	2: 91,318,778 (GRCm39)	Y872H	probably benign	Het
Maip1	T	C	1: 57,446,260 (GRCm39)	M110T	probably damaging	Het
Marchf7	G	A	2: 60,064,786 (GRCm39)	R354Q	probably damaging	Het
Med12l	G	T	3: 58,998,889 (GRCm39)	E605D	probably damaging	Het
Nt5c1a	T	A	4: 123,110,049 (GRCm39)		probably null	Het
Or2j6	T	A	7: 139,980,101 (GRCm39)	Y286F	probably damaging	Het
Or5ac25	A	T	16: 59,182,078 (GRCm39)	C168S	probably damaging	Het
Or5p66	C	T	7: 107,885,451 (GRCm39)	S294N	probably damaging	Het
Pdzd9	T	A	7: 120,267,776 (GRCm39)	E13V	possibly damaging	Het
Ppip5k2	C	T	1: 97,635,535 (GRCm39)	A1100T	possibly damaging	Het
Prkdc	C	A	16: 15,533,778 (GRCm39)	Q1539K	probably benign	Het
Rad54l	C	G	4: 115,956,243 (GRCm39)		probably benign	Het
Ric1	T	A	19: 29,573,389 (GRCm39)	I943N	probably damaging	Het
Rif1	T	A	2: 51,995,651 (GRCm39)		probably null	Het
Rpl12	T	C	2: 32,852,536 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,860,637 (GRCm39)		probably benign	Het
Scarb1	C	A	5: 125,417,971 (GRCm39)		probably benign	Het
Sox10	T	C	15: 79,040,463 (GRCm39)	E359G	probably damaging	Het
Taf5	A	G	19: 47,056,228 (GRCm39)	T9A	unknown	Het
Tmem128	C	T	5: 38,423,885 (GRCm39)	A33V	possibly damaging	Het
Tox	A	C	4: 6,697,444 (GRCm39)	V453G	probably benign	Het
Ubxn4	T	A	1: 128,183,867 (GRCm39)	C76S	probably damaging	Het
Vmn2r100	A	T	17: 19,743,786 (GRCm39)	Y483F	probably benign	Het
Xkr5	A	G	8: 18,990,806 (GRCm39)	S154P	probably damaging	Het
Zfp687	T	C	3: 94,919,355 (GRCm39)	N139S	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
IGL02948:Ano3	APN	2	110,527,363 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CACTGTCGATGCACTTACTTG -3'
(R):5'- CTTAAAGTGATGTGTGACAAAGTGG -3'

Sequencing Primer
(F):5'- CGATGCACTTACTTGTTTAGAATGG -3'
(R):5'- GGTAACTGTAACAAAAGTTGGTGTTG -3'

Posted On

2017-02-10