Mutagenetix > Incidental Mutation

Incidental Mutation 'R4790:Ano3'

368419

Institutional Source

Beutler Lab

Gene Symbol

Ano3

Ensembl Gene

ENSMUSG00000074968

Gene Name

anoctamin 3

Synonyms

B230324K02Rik, Tmem16c

MMRRC Submission

042418-MU

Accession Numbers

Essential gene?

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

Stock #

R4790 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110485546-110780854 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110715264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 58 (Q58L)

Ref Sequence

ENSEMBL: ENSMUSP00000097219 (fasta)

Gene Model

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

AlphaFold

A2AHL1

Predicted Effect

probably benign
Transcript: ENSMUST00000099623
AA Change: Q58L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: Q58L

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	G	11: 110,202,236 (GRCm39)	T390P	possibly damaging	Het
Acss3	A	T	10: 106,859,563 (GRCm39)	Y345*	probably null	Het
Adam26b	A	T	8: 43,973,764 (GRCm39)	S413T	probably benign	Het
Angpt2	T	A	8: 18,764,098 (GRCm39)	Q148L	probably damaging	Het
Ank3	T	A	10: 69,823,981 (GRCm39)	Y883*	probably null	Het
Ankrd52	A	G	10: 128,216,814 (GRCm39)	K190E	possibly damaging	Het
Anks1b	A	G	10: 89,999,137 (GRCm39)	R415G	probably damaging	Het
Aoc1l2	T	A	6: 48,907,486 (GRCm39)	I162N	probably damaging	Het
Arhgap39	A	T	15: 76,610,931 (GRCm39)	M924K	possibly damaging	Het
AU040320	A	G	4: 126,741,008 (GRCm39)	M910V	possibly damaging	Het
BC051019	T	A	7: 109,315,553 (GRCm39)	H86L	probably benign	Het
C1qbp	G	A	11: 70,870,856 (GRCm39)	Q151*	probably null	Het
C4b	G	T	17: 34,953,117 (GRCm39)	D1069E	probably benign	Het
Casp1	C	T	9: 5,303,020 (GRCm39)	T158I	probably benign	Het
Casq1	T	C	1: 172,044,404 (GRCm39)	D141G	probably damaging	Het
Ccdc33	T	A	9: 57,937,240 (GRCm39)	E653V	probably damaging	Het
Cd180	C	T	13: 102,839,330 (GRCm39)	T71M	probably damaging	Het
Cdk4	T	C	10: 126,900,570 (GRCm39)	L112P	probably damaging	Het
Celf2	A	G	2: 6,554,714 (GRCm39)	F425S	probably damaging	Het
Chrm3	A	T	13: 9,927,698 (GRCm39)	V446E	probably benign	Het
Chst9	A	T	18: 15,586,107 (GRCm39)	L152H	probably damaging	Het
Cib2	A	G	9: 54,457,087 (GRCm39)		probably null	Het
Clec18a	T	C	8: 111,798,717 (GRCm39)	S366G	probably damaging	Het
Crebbp	A	G	16: 3,997,983 (GRCm39)	F34L	probably damaging	Het
Dapk1	AT	A	13: 60,870,919 (GRCm39)		probably null	Het
Ddi1	T	A	9: 6,265,761 (GRCm39)	M203L	probably benign	Het
Ddx20	G	T	3: 105,590,485 (GRCm39)	S270R	probably benign	Het
Eddm13	A	T	7: 6,269,317 (GRCm39)	K31*	probably null	Het
Espnl	A	T	1: 91,272,146 (GRCm39)	E458V	probably damaging	Het
Fat3	T	C	9: 15,909,780 (GRCm39)	D2074G	probably damaging	Het
Fcf1	A	G	12: 85,020,902 (GRCm39)	T61A	probably benign	Het
Fkbp15	T	C	4: 62,226,234 (GRCm39)	R772G	probably benign	Het
Flnb	T	C	14: 7,905,661 (GRCm38)	V1137A	probably benign	Het
Fosb	C	A	7: 19,043,313 (GRCm39)	C15F	probably damaging	Het
Frem2	A	T	3: 53,424,162 (GRCm39)	W3092R	probably benign	Het
Gm3248	T	C	14: 5,945,831 (GRCm38)	I28V	probably damaging	Het
Gm4922	G	T	10: 18,659,916 (GRCm39)	L269I	possibly damaging	Het
Gucy2e	G	A	11: 69,119,274 (GRCm39)	R627W	probably damaging	Het
Hephl1	T	A	9: 14,970,467 (GRCm39)	E1009V	probably damaging	Het
Hsf4	A	T	8: 105,997,237 (GRCm39)	Q61L	probably damaging	Het
Itgam	T	A	7: 127,715,445 (GRCm39)	N1046K	probably benign	Het
Itgav	G	A	2: 83,586,154 (GRCm39)	C138Y	probably damaging	Het
Itih4	A	T	14: 30,611,867 (GRCm39)	Y157F	probably damaging	Het
Kcnt2	C	T	1: 140,282,254 (GRCm39)	R80C	probably damaging	Het
Kdm4b	G	A	17: 56,708,618 (GRCm39)	V986M	probably damaging	Het
Lamb3	T	A	1: 193,022,194 (GRCm39)	V1014D	probably damaging	Het
Lrrc74b	G	T	16: 17,367,717 (GRCm39)	N282K	probably damaging	Het
Map3k20	T	A	2: 72,272,048 (GRCm39)	H725Q	probably benign	Het
Mink1	A	G	11: 70,489,867 (GRCm39)	N81S	probably damaging	Het
Mmp21	A	G	7: 133,276,759 (GRCm39)	Y415H	probably damaging	Het
Mycbp2	A	T	14: 103,466,873 (GRCm39)	W1297R	probably damaging	Het
Myh8	T	C	11: 67,170,789 (GRCm39)	M95T	probably damaging	Het
Myo7b	A	T	18: 32,133,158 (GRCm39)		probably null	Het
Nanog	A	G	6: 122,684,874 (GRCm39)	M20V	probably benign	Het
Ncapd3	A	G	9: 26,963,146 (GRCm39)	I484V	probably benign	Het
Ndufa12	A	T	10: 94,056,620 (GRCm39)	N116I	probably benign	Het
Nedd4l	A	G	18: 65,337,016 (GRCm39)	I668V	possibly damaging	Het
Nhsl3	C	A	4: 129,117,095 (GRCm39)	R523L	probably damaging	Het
Nobox	T	C	6: 43,282,480 (GRCm39)	D309G	probably benign	Het
Npnt	A	G	3: 132,596,523 (GRCm39)		probably benign	Het
Nrxn1	A	C	17: 90,762,477 (GRCm39)	Y2D	possibly damaging	Het
Obox6	G	T	7: 15,568,502 (GRCm39)	P125T	possibly damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or14j8	T	C	17: 38,263,633 (GRCm39)	Y94C	probably damaging	Het
Or2ag15	C	G	7: 106,340,998 (GRCm39)	V48L	probably benign	Het
Or4s2b	T	A	2: 88,508,731 (GRCm39)	N177K	possibly damaging	Het
Or56a3	T	C	7: 104,735,844 (GRCm39)		probably benign	Het
Or5ac20	A	T	16: 59,104,821 (GRCm39)	V13D	probably damaging	Het
Or5an10	A	G	19: 12,276,305 (GRCm39)	Y64H	possibly damaging	Het
Or8k32	T	C	2: 86,369,224 (GRCm39)	T10A	possibly damaging	Het
Osm	A	T	11: 4,188,435 (GRCm39)	M21L	probably benign	Het
Otogl	T	A	10: 107,657,894 (GRCm39)		probably null	Het
Otud4	T	G	8: 80,393,402 (GRCm39)	S493A	possibly damaging	Het
Pars2	A	G	4: 106,508,308 (GRCm39)		probably benign	Het
Phlda3	T	A	1: 135,694,557 (GRCm39)	V124E	possibly damaging	Het
Pias4	T	C	10: 80,993,326 (GRCm39)	D199G	probably damaging	Het
Pm20d1	T	C	1: 131,739,777 (GRCm39)	L375P	probably benign	Het
Pole2	T	C	12: 69,273,139 (GRCm39)	I48V	probably benign	Het
Prrc2c	T	C	1: 162,538,050 (GRCm39)	R527G	unknown	Het
Rasgrf2	G	T	13: 92,136,135 (GRCm39)	N592K	probably damaging	Het
Rbm7	A	G	9: 48,406,474 (GRCm39)	L26P	probably damaging	Het
Rhag	A	G	17: 41,142,181 (GRCm39)	H208R	probably benign	Het
Rnf17	A	G	14: 56,671,812 (GRCm39)	E268G	probably damaging	Het
Rnf220	A	G	4: 117,146,252 (GRCm39)	V23A	probably benign	Het
Rnf7	A	T	9: 96,360,472 (GRCm39)	V55D	probably damaging	Het
Sdr9c7	C	A	10: 127,739,448 (GRCm39)	R188S	possibly damaging	Het
Senp6	T	A	9: 79,997,140 (GRCm39)	N51K	probably benign	Het
Skint3	C	A	4: 112,113,095 (GRCm39)	T235K	possibly damaging	Het
Slc10a5	A	G	3: 10,400,096 (GRCm39)	F188S	probably damaging	Het
Slc41a1	G	A	1: 131,758,690 (GRCm39)	G111R	probably damaging	Het
Smarca1	T	C	X: 46,972,944 (GRCm39)	D132G	probably null	Het
Snrnp48	C	T	13: 38,405,299 (GRCm39)	R299W	probably damaging	Het
Sspo	G	A	6: 48,437,705 (GRCm39)	G1413D	probably benign	Het
Star	T	A	8: 26,298,644 (GRCm39)	H16Q	probably damaging	Het
Strc	T	C	2: 121,206,075 (GRCm39)	D779G	probably benign	Het
Sulf2	T	C	2: 165,931,215 (GRCm39)	Y264C	probably damaging	Het
Supt7l	A	G	5: 31,680,248 (GRCm39)	S6P	possibly damaging	Het
Syne2	A	G	12: 76,067,165 (GRCm39)	D4289G	probably benign	Het
Szrd1	A	T	4: 140,867,001 (GRCm39)		probably null	Het
Tada1	T	C	1: 166,219,523 (GRCm39)	V275A	possibly damaging	Het
Tbr1	A	T	2: 61,641,932 (GRCm39)	Y136F	probably benign	Het
Tbx20	T	A	9: 24,637,010 (GRCm39)	H359L	probably benign	Het
Thbs4	G	T	13: 92,899,314 (GRCm39)	D560E	probably damaging	Het
Tnfsf14	T	C	17: 57,497,740 (GRCm39)	H164R	probably damaging	Het
Trmu	T	C	15: 85,767,006 (GRCm39)	S72P	probably damaging	Het
Tsnaxip1	C	A	8: 106,560,155 (GRCm39)	Q36K	probably benign	Het
Ttc28	T	A	5: 111,372,083 (GRCm39)	M844K	possibly damaging	Het
Tubgcp2	T	C	7: 139,579,201 (GRCm39)	Y695C	probably damaging	Het
Ugt1a10	T	A	1: 87,984,009 (GRCm39)	M269K	probably damaging	Het
Urb1	A	T	16: 90,566,443 (GRCm39)	L1448*	probably null	Het
Vmn2r124	A	T	17: 18,269,855 (GRCm39)	H37L	probably damaging	Het
Vmn2r44	T	C	7: 8,370,949 (GRCm39)	N699S	probably damaging	Het
Vps35	A	T	8: 86,005,486 (GRCm39)		probably null	Het
Yipf1	G	T	4: 107,193,396 (GRCm39)		probably null	Het
Zfp395	A	G	14: 65,623,990 (GRCm39)	N153S	possibly damaging	Het
Zfp395	A	G	14: 65,630,656 (GRCm39)	D402G	probably damaging	Het
Zfp652	T	C	11: 95,640,435 (GRCm39)	V120A	probably damaging	Het
Zp3r	T	C	1: 130,510,629 (GRCm39)	I364M	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCAGGAAGAAAGCAATTGTCAAAATT -3'
(R):5'- TGCATTTGTTGGTCTCTGACAT -3'

Sequencing Primer
(F):5'- AGATGAGCCTAGTCTTACTGCAGC -3'
(R):5'- GGTCTCTGACATGTTGCTAATAC -3'

Posted On

2016-02-04