Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01066:Ano3'

50394

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano3

Ensembl Gene

ENSMUSG00000074968

Gene Name

anoctamin 3

Synonyms

B230324K02Rik, Tmem16c

Accession Numbers

Essential gene?

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

Stock #

IGL01066

Quality Score

Status

Chromosome

Chromosomal Location

110485546-110780854 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110491790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 879 (M879K)

Ref Sequence

ENSEMBL: ENSMUSP00000097219 (fasta)

Gene Model

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

AlphaFold

A2AHL1

Predicted Effect

probably null
Transcript: ENSMUST00000099623
AA Change: M879K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: M879K

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

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
2300003K06Rik	T	A	11: 99,728,454 (GRCm39)	R130*	probably null	Het
Abca12	T	A	1: 71,392,889 (GRCm39)	R117W	possibly damaging	Het
Agrn	A	G	4: 156,261,800 (GRCm39)	S497P	probably benign	Het
Alpk1	A	T	3: 127,473,874 (GRCm39)	S710T	probably benign	Het
Anapc4	T	A	5: 53,014,551 (GRCm39)	N471K	probably benign	Het
Apoe	A	G	7: 19,430,525 (GRCm39)	L239P	probably damaging	Het
Ash1l	T	C	3: 88,891,942 (GRCm39)	Y1274H	probably damaging	Het
B3glct	C	T	5: 149,632,890 (GRCm39)	T80I	possibly damaging	Het
Ccdc146	T	C	5: 21,524,540 (GRCm39)	T271A	probably benign	Het
Chd8	T	A	14: 52,455,223 (GRCm39)	N1088I	probably damaging	Het
Csnk1g2	T	C	10: 80,470,481 (GRCm39)		probably benign	Het
Daxx	T	A	17: 34,132,867 (GRCm39)	V627D	probably benign	Het
Dnai7	C	T	6: 145,121,948 (GRCm39)	G624S	probably damaging	Het
Dpy19l3	A	G	7: 35,392,192 (GRCm39)		probably benign	Het
Enc1	A	G	13: 97,381,822 (GRCm39)	I111V	probably benign	Het
Ep400	A	G	5: 110,816,065 (GRCm39)		probably benign	Het
Fig4	T	C	10: 41,161,413 (GRCm39)		probably benign	Het
Fkbp7	A	T	2: 76,503,252 (GRCm39)	L36*	probably null	Het
Fxn	A	T	19: 24,244,662 (GRCm39)		probably benign	Het
Gm10152	C	T	7: 144,316,993 (GRCm39)	P16L	unknown	Het
Hivep2	T	C	10: 14,024,768 (GRCm39)	V2194A	possibly damaging	Het
Hook3	T	G	8: 26,538,326 (GRCm39)	E525A	probably damaging	Het
Icam1	A	G	9: 20,927,401 (GRCm39)		probably null	Het
Ifngr1	C	T	10: 19,484,946 (GRCm39)	T315I	probably damaging	Het
Igsf10	A	G	3: 59,235,203 (GRCm39)		probably null	Het
Irag2	T	C	6: 145,106,681 (GRCm39)	S222P	probably damaging	Het
Krt87	A	G	15: 101,336,266 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,050,321 (GRCm39)	C311S	probably damaging	Het
Lig3	T	A	11: 82,688,141 (GRCm39)	M714K	possibly damaging	Het
Lypd5	C	T	7: 24,052,910 (GRCm39)	T189I	probably benign	Het
Mapk8ip3	C	T	17: 25,120,692 (GRCm39)	G807D	probably benign	Het
Met	T	C	6: 17,535,104 (GRCm39)		probably null	Het
Nlrp4g	C	A	9: 124,349,526 (GRCm38)		noncoding transcript	Het
Nlrp6	T	A	7: 140,501,709 (GRCm39)	V62D	possibly damaging	Het
Nme7	A	G	1: 164,172,999 (GRCm39)		probably null	Het
Or2y1f	T	C	11: 49,184,457 (GRCm39)	I103T	possibly damaging	Het
Or5m9	A	G	2: 85,877,602 (GRCm39)	R259G	probably damaging	Het
Or5p79	T	C	7: 108,221,064 (GRCm39)	F15S	probably damaging	Het
Pcnx1	G	A	12: 82,038,795 (GRCm39)	R2020Q	possibly damaging	Het
Pdzd2	T	A	15: 12,402,718 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,166,637 (GRCm39)		probably benign	Het
Pkdrej	T	G	15: 85,700,360 (GRCm39)	I1859L	probably benign	Het
Plcg1	A	T	2: 160,596,318 (GRCm39)	H638L	probably damaging	Het
Polr1b	C	T	2: 128,961,072 (GRCm39)	S677L	probably damaging	Het
Ppef2	A	G	5: 92,382,096 (GRCm39)	L533P	probably damaging	Het
Sh3rf1	T	A	8: 61,782,370 (GRCm39)	W171R	probably damaging	Het
Son	T	C	16: 91,457,024 (GRCm39)		probably benign	Het
Sycp1	A	G	3: 102,827,950 (GRCm39)	S266P	probably damaging	Het
Tedc1	A	G	12: 113,126,770 (GRCm39)	E344G	probably damaging	Het
Tkfc	T	C	19: 10,571,892 (GRCm39)	I381M	probably benign	Het
Tmprss6	T	C	15: 78,326,634 (GRCm39)	D1G	probably null	Het
Ttn	T	C	2: 76,582,770 (GRCm39)	T22708A	probably damaging	Het
Ubtf	T	C	11: 102,199,710 (GRCm39)		probably benign	Het
Vps35l	T	A	7: 118,372,234 (GRCm39)		probably null	Het
Vwc2l	T	C	1: 70,768,070 (GRCm39)	F45L	probably damaging	Het
Xpo7	T	C	14: 70,939,195 (GRCm39)	T154A	probably benign	Het
Yars2	C	T	16: 16,124,406 (GRCm39)	R338*	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
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
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

Posted On

2013-06-21