Mutagenetix > Incidental Mutation

Incidental Mutation 'R6482:Ano3'

517153

Institutional Source

Beutler Lab

Gene Symbol

Ano3

Ensembl Gene

ENSMUSG00000074968

Gene Name

anoctamin 3

Synonyms

B230324K02Rik, Tmem16c

MMRRC Submission

044614-MU

Accession Numbers

Essential gene?

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

Stock #

R6482 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110485546-110780854 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110527400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 603 (N603Y)

Ref Sequence

ENSEMBL: ENSMUSP00000097219 (fasta)

Gene Model

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

AlphaFold

A2AHL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099623
AA Change: N603Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: N603Y

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

0.5661

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

100% (40/40)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 69,902,388 (GRCm39)	I415V	probably benign	Het
Akap8l	A	G	17: 32,564,370 (GRCm39)	F6L	possibly damaging	Het
Casp8ap2	T	C	4: 32,634,813 (GRCm39)	S116P	probably damaging	Het
Ccdc110	A	T	8: 46,395,825 (GRCm39)	Q572L	probably benign	Het
Chit1	T	C	1: 134,070,980 (GRCm39)	S20P	probably damaging	Het
Col22a1	G	A	15: 71,762,338 (GRCm39)	P107L	possibly damaging	Het
Dpys	T	C	15: 39,705,369 (GRCm39)	H248R	probably damaging	Het
Dsg2	A	T	18: 20,734,371 (GRCm39)	K783I	possibly damaging	Het
Efnb2	A	T	8: 8,670,637 (GRCm39)	V321E	probably damaging	Het
Eif1ad13	A	G	12: 87,762,565 (GRCm39)	Y95C	probably damaging	Het
Fbxo11	A	T	17: 88,320,086 (GRCm39)	Y209N	probably benign	Het
Gm35315	A	T	5: 110,225,955 (GRCm39)	C495S	possibly damaging	Het
Hrh1	A	G	6: 114,457,724 (GRCm39)	Q335R	possibly damaging	Het
Il12rb2	A	G	6: 67,333,670 (GRCm39)	L203P	probably damaging	Het
Itgav	T	C	2: 83,624,614 (GRCm39)	S735P	probably damaging	Het
Klrg1	G	T	6: 122,248,412 (GRCm39)	C162*	probably null	Het
Mcc	T	C	18: 44,578,931 (GRCm39)	S651G	possibly damaging	Het
Nkx2-2	T	A	2: 147,027,896 (GRCm39)	I15F	probably damaging	Het
Nppa	G	A	4: 148,085,328 (GRCm39)	V13I	probably benign	Het
Obi1	A	T	14: 104,717,253 (GRCm39)	C373*	probably null	Het
Or8i2	G	C	2: 86,852,869 (GRCm39)	F6L	probably benign	Het
Pde2a	A	G	7: 101,150,244 (GRCm39)	N228D	probably benign	Het
Pgpep1l	C	T	7: 67,888,815 (GRCm39)		probably null	Het
Plekhg3	A	G	12: 76,622,778 (GRCm39)	N673D	probably benign	Het
Plxna4	A	G	6: 32,493,672 (GRCm39)	S315P	probably benign	Het
Psg21	A	T	7: 18,388,664 (GRCm39)		probably null	Het
Rnf111	T	C	9: 70,336,889 (GRCm39)	T925A	probably damaging	Het
Spag9	T	C	11: 93,984,328 (GRCm39)	F734L	possibly damaging	Het
Tarbp1	A	G	8: 127,177,434 (GRCm39)	V746A	probably benign	Het
Tmtc1	A	G	6: 148,314,243 (GRCm39)	F119L	probably benign	Het
Ttc21b	A	G	2: 66,057,244 (GRCm39)	M576T	probably benign	Het
Usp48	T	A	4: 137,362,232 (GRCm39)	V765E	probably damaging	Het
Vmn1r20	A	G	6: 57,409,093 (GRCm39)	S140G	probably benign	Het
Vwde	A	G	6: 13,205,843 (GRCm39)	S235P	probably damaging	Het
Wapl	A	G	14: 34,414,649 (GRCm39)	S504G	probably benign	Het
Wnt5b	A	T	6: 119,410,573 (GRCm39)	L289Q	possibly damaging	Het
Zfp142	G	A	1: 74,609,376 (GRCm39)		probably null	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,549,992 (GRCm39)		probably benign	Het
Zfp948	A	G	17: 21,807,813 (GRCm39)	H335R	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
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
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'- AACAAGCTGGATGAAATACTGC -3'
(R):5'- AGAAGGATATTCTAGCACACCAAG -3'

Sequencing Primer
(F):5'- GCTTGTTAAAATGAGTTGTTTGGAAC -3'
(R):5'- CATTTGTTAGTAACACAAAAGGCCTG -3'

Posted On

2018-05-21