Mutagenetix > Incidental Mutation

Incidental Mutation 'R6158:Ano3'

489679

Institutional Source

Beutler Lab

Gene Symbol

Ano3

Ensembl Gene

ENSMUSG00000074968

Gene Name

anoctamin 3

Synonyms

B230324K02Rik, Tmem16c

MMRRC Submission

044305-MU

Accession Numbers

Essential gene?

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

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110485546-110780854 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110496220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 845 (Y845N)

Ref Sequence

ENSEMBL: ENSMUSP00000097219 (fasta)

Gene Model

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

AlphaFold

A2AHL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099623
AA Change: Y845N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: Y845N

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

Meta Mutation Damage Score

0.5643

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,217,410 (GRCm39)	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,246,599 (GRCm39)	T32A	probably benign	Het
Adprhl1	C	T	8: 13,274,977 (GRCm39)	V594M	possibly damaging	Het
Arhgap24	A	T	5: 103,040,778 (GRCm39)	I575L	probably benign	Het
Aurka	A	C	2: 172,205,516 (GRCm39)		probably null	Het
C1qtnf5	A	T	9: 44,020,267 (GRCm39)		probably benign	Het
Cacnb2	A	G	2: 14,990,412 (GRCm39)	D454G	possibly damaging	Het
Chchd5	T	C	2: 128,972,437 (GRCm39)	L87P	probably damaging	Het
Col7a1	G	T	9: 108,793,671 (GRCm39)	R1377L	unknown	Het
Cpne8	A	C	15: 90,456,191 (GRCm39)	S191A	probably damaging	Het
Dhx30	A	T	9: 109,916,098 (GRCm39)	I671N	probably damaging	Het
Dnah12	A	T	14: 26,495,642 (GRCm39)	K1423N	possibly damaging	Het
Dnm3	T	C	1: 162,148,556 (GRCm39)	M272V	probably damaging	Het
Fat4	A	T	3: 39,037,411 (GRCm39)	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401 (GRCm39)	L1407F	probably damaging	Het
Fry	T	C	5: 150,378,037 (GRCm39)	S410P	probably damaging	Het
Gm11565	T	A	11: 99,805,744 (GRCm39)	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311 (GRCm39)	R30*	probably null	Het
Htt	T	C	5: 35,064,430 (GRCm39)	I2943T	possibly damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Lmo7	T	A	14: 102,137,573 (GRCm39)	D247E	probably benign	Het
Mastl	G	T	2: 23,022,784 (GRCm39)	N646K	possibly damaging	Het
Mei4	G	T	9: 81,809,629 (GRCm39)	L237F	probably damaging	Het
Mettl27	C	T	5: 134,969,430 (GRCm39)	P170S	possibly damaging	Het
Mgam	T	A	6: 40,734,648 (GRCm39)	I896K	probably damaging	Het
Mix23	T	A	16: 35,910,299 (GRCm39)	V118D	probably damaging	Het
Moxd1	T	A	10: 24,160,675 (GRCm39)	C443S	probably damaging	Het
Myo18b	A	T	5: 113,022,038 (GRCm39)	N451K	probably benign	Het
Myo7b	T	C	18: 32,121,602 (GRCm39)	I768V	probably benign	Het
Nos1	A	C	5: 118,005,639 (GRCm39)	I120L	probably benign	Het
Nsd1	T	C	13: 55,393,434 (GRCm39)	V345A	probably benign	Het
Or1j15	A	T	2: 36,459,128 (GRCm39)	T173S	probably benign	Het
Or2aj5	C	A	16: 19,424,675 (GRCm39)	V248F	probably damaging	Het
Or4c11c	T	C	2: 88,661,490 (GRCm39)	F10L	probably damaging	Het
Or5t15	A	G	2: 86,681,859 (GRCm39)	L61P	possibly damaging	Het
Or8g50	C	T	9: 39,648,372 (GRCm39)	T87I	probably benign	Het
Pdzph1	T	G	17: 59,280,622 (GRCm39)	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,824,940 (GRCm39)	L546*	probably null	Het
Pla2g4f	T	C	2: 120,131,552 (GRCm39)	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,266,596 (GRCm39)	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,679,767 (GRCm39)	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,694,565 (GRCm39)	D35G	probably damaging	Het
Rock2	A	G	12: 17,004,919 (GRCm39)	D424G	probably benign	Het
Scg2	A	T	1: 79,413,117 (GRCm39)	D495E	probably damaging	Het
Slc39a2	G	A	14: 52,131,681 (GRCm39)		probably null	Het
Snrnp48	T	A	13: 38,394,212 (GRCm39)	Y100*	probably null	Het
Spaca1	A	G	4: 34,029,176 (GRCm39)	M99T	probably damaging	Het
Specc1	T	G	11: 62,008,950 (GRCm39)	F235L	probably damaging	Het
St13	A	T	15: 81,283,802 (GRCm39)		probably null	Het
Swap70	T	A	7: 109,869,230 (GRCm39)	M341K	probably damaging	Het
Synj2	A	G	17: 6,036,487 (GRCm39)	D67G	probably benign	Het
Tmem135	T	A	7: 88,805,652 (GRCm39)	I251F	probably benign	Het
Tmem87a	A	T	2: 120,190,584 (GRCm39)		probably null	Het
Tom1l2	C	T	11: 60,123,753 (GRCm39)	D128N	probably damaging	Het
Tpx2	C	A	2: 152,715,024 (GRCm39)	H82N	probably benign	Het
Trip12	A	T	1: 84,738,733 (GRCm39)	C738S	possibly damaging	Het
Ttyh1	A	G	7: 4,128,561 (GRCm39)	T153A	probably benign	Het
Utrn	C	T	10: 12,566,566 (GRCm39)	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,013,274 (GRCm39)	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,583,104 (GRCm39)	D37V	probably damaging	Het
Vwce	C	T	19: 10,621,585 (GRCm39)	R206C	possibly damaging	Het
Wrn	G	T	8: 33,809,200 (GRCm39)	F265L	probably damaging	Het
Zfp472	T	A	17: 33,197,363 (GRCm39)	C479*	probably null	Het
Zfp831	A	T	2: 174,485,651 (GRCm39)	T109S	possibly damaging	Het
Znfx1	G	T	2: 166,898,646 (GRCm39)	Q93K	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
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
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'- ACTCTGAAATGAGTTGCTGTAGAAAGC -3'
(R):5'- AACTAGAGAGCTTTCATCTTGCAC -3'

Sequencing Primer
(F):5'- GAAAGCACTTTCTGTTCTTAGCTC -3'
(R):5'- ATCTTGCACACTTTTTATTCACTCAC -3'

Posted On

2017-10-10