Mutagenetix > Incidental Mutation

Incidental Mutation 'R5113:Ano3'

393999

Institutional Source

Beutler Lab

Gene Symbol

Ano3

Ensembl Gene

ENSMUSG00000074968

Gene Name

anoctamin 3

Synonyms

B230324K02Rik, Tmem16c

MMRRC Submission

042701-MU

Accession Numbers

Essential gene?

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

Stock #

R5113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110485546-110780854 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110491825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 867 (N867K)

Ref Sequence

ENSEMBL: ENSMUSP00000097219 (fasta)

Gene Model

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

AlphaFold

A2AHL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099623
AA Change: N867K

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: N867K

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

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,206,821 (GRCm39)	V622A	possibly damaging	Het
Ankef1	A	G	2: 136,394,361 (GRCm39)	N590S	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ash1l	T	C	3: 88,973,582 (GRCm39)	V2547A	probably damaging	Het
Chil5	A	T	3: 105,925,294 (GRCm39)	V209E	possibly damaging	Het
Cltc	A	T	11: 86,613,147 (GRCm39)	C459S	probably damaging	Het
Col6a4	T	A	9: 105,944,159 (GRCm39)	D1105V	possibly damaging	Het
Cyp2c66	A	G	19: 39,151,882 (GRCm39)	D199G	probably benign	Het
Cyp4f18	A	G	8: 72,742,902 (GRCm39)		probably null	Het
Cysrt1	A	T	2: 25,129,363 (GRCm39)	C50S	possibly damaging	Het
Dapk1	A	G	13: 60,869,592 (GRCm39)	K278R	probably benign	Het
Eefsec	C	A	6: 88,258,557 (GRCm39)	S512I	probably damaging	Het
Emilin1	T	C	5: 31,077,964 (GRCm39)	F908L	possibly damaging	Het
Eml1	T	C	12: 108,503,596 (GRCm39)	V731A	possibly damaging	Het
Erc2	T	C	14: 27,374,829 (GRCm39)	S16P	probably benign	Het
Gfpt2	A	G	11: 49,714,626 (GRCm39)	R342G	probably damaging	Het
Gpr142	A	T	11: 114,695,143 (GRCm39)	Q36L	probably benign	Het
Grik5	A	G	7: 24,714,952 (GRCm39)	S681P	probably damaging	Het
Hecw1	A	T	13: 14,520,614 (GRCm39)	S208T	possibly damaging	Het
Hmgcr	G	A	13: 96,793,240 (GRCm39)	A464V	probably benign	Het
Igkv2-109	A	G	6: 68,280,069 (GRCm39)	T97A	possibly damaging	Het
Ino80	G	T	2: 119,262,426 (GRCm39)	Q687K	probably damaging	Het
Kdm4d	T	C	9: 14,375,409 (GRCm39)	N150D	probably damaging	Het
Klf4	A	G	4: 55,530,481 (GRCm39)	I210T	possibly damaging	Het
Klkb1	C	A	8: 45,723,734 (GRCm39)	Q560H	probably benign	Het
Lce1a2	A	T	3: 92,576,442 (GRCm39)	V40E	unknown	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Mipol1	C	T	12: 57,543,285 (GRCm39)	T393I	probably benign	Het
Mst1	A	G	9: 107,959,446 (GRCm39)	D244G	probably damaging	Het
Nexn	G	A	3: 151,949,525 (GRCm39)	R258C	probably damaging	Het
Optc	T	C	1: 133,828,715 (GRCm39)		probably benign	Het
Or10d5	T	C	9: 39,861,221 (GRCm39)	N282S	probably damaging	Het
Or11h23	A	C	14: 50,948,371 (GRCm39)	I195L	probably benign	Het
Or6c207	A	G	10: 129,104,535 (GRCm39)	I219T	probably damaging	Het
Or7a37	A	G	10: 78,806,037 (GRCm39)	I185V	probably benign	Het
Pabpc2	C	A	18: 39,908,436 (GRCm39)	P567Q	probably benign	Het
Pierce2	T	A	9: 72,887,175 (GRCm39)	R111*	probably null	Het
Ppm1j	A	G	3: 104,691,990 (GRCm39)	H324R	possibly damaging	Het
Reg3g	A	T	6: 78,443,544 (GRCm39)		probably null	Het
Sipa1l1	C	T	12: 82,487,682 (GRCm39)	A1652V	probably benign	Het
Ski	T	C	4: 155,243,849 (GRCm39)	T554A	probably benign	Het
Slfn5	G	A	11: 82,852,522 (GRCm39)	V883M	probably benign	Het
Stradb	T	C	1: 59,030,333 (GRCm39)		probably benign	Het
Tex19.1	A	G	11: 121,038,625 (GRCm39)	T328A	probably benign	Het
Tpsab1	T	C	17: 25,564,373 (GRCm39)	N27S	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	A	T	2: 76,643,244 (GRCm39)	L13225Q	probably damaging	Het
Vmn1r28	A	G	6: 58,242,843 (GRCm39)	T229A	probably benign	Het
Wapl	A	G	14: 34,446,711 (GRCm39)	K600E	probably damaging	Het
Zfp217	T	C	2: 169,955,978 (GRCm39)		probably null	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
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'- AGGGAGCAGAGCATTCTTGA -3'
(R):5'- GTTAGAACAGGAGGAACAATGGTATT -3'

Sequencing Primer
(F):5'- GGAGCAGAGCATTCTTGATTTACCC -3'
(R):5'- CTCACAGTCAGCTATTGGATGGATC -3'

Posted On

2016-06-15