Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01063:Ano6'

52754

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano6

Ensembl Gene

ENSMUSG00000064210

Gene Name

anoctamin 6

Synonyms

Tmem16f, 2900059G15Rik, F730003B03Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

IGL01063

Quality Score

Status

Chromosome

Chromosomal Location

95790843-95974751 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95948429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 537 (I537T)

Ref Sequence

ENSEMBL: ENSMUSP00000153954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071874] [ENSMUST00000227151] [ENSMUST00000227791]

AlphaFold

Q6P9J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071874
AA Change: I516T

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

SMART Domains

Protein: ENSMUSP00000071770
Gene: ENSMUSG00000064210
AA Change: I516T

Domain	Start	End	E-Value	Type
low complexity region	9	27	N/A	INTRINSIC
Pfam:Anoct_dimer	63	285	4.5e-70	PFAM
Pfam:Anoctamin	288	872	3.3e-137	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226761

Predicted Effect

probably benign
Transcript: ENSMUST00000227151

Predicted Effect

probably damaging
Transcript: ENSMUST00000227791
AA Change: I537T

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

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired platelet coagulation with increased bleeding time. Mice homozygous for a different knock out allele or gene trap exhibit decreased bone mineral deposition and skeletal abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
4930444P10Rik	A	T	1: 16,078,646	L61*	probably null	Het
Abca7	T	C	10: 80,011,297	I1705T	probably damaging	Het
Ablim1	T	A	19: 57,061,328	I393F	probably damaging	Het
Adamts5	A	G	16: 85,899,834	L145P	probably damaging	Het
AU018091	T	C	7: 3,162,313	I190V	possibly damaging	Het
Camk1	T	A	6: 113,338,372	D155V	probably damaging	Het
Cdh6	A	C	15: 13,064,495	I103S	probably damaging	Het
Cntnap1	A	G	11: 101,181,788	D537G	probably benign	Het
Col6a3	T	C	1: 90,802,332	K1144E	probably damaging	Het
Cpeb1	T	A	7: 81,372,181	E71D	probably benign	Het
Cps1	T	C	1: 67,195,166	L904P	possibly damaging	Het
Cyfip1	T	A	7: 55,904,210	F700I	probably damaging	Het
Dmp1	G	A	5: 104,207,099	M1I	probably null	Het
Efcab6	A	T	15: 84,054,512	M1K	probably null	Het
Extl2	A	T	3: 116,027,482	H312L	possibly damaging	Het
Fat4	C	A	3: 38,890,579	A1207D	possibly damaging	Het
Flnb	T	C	14: 7,926,518		probably benign	Het
Hdac10	G	T	15: 89,123,868	A593E	possibly damaging	Het
Hdhd2	T	C	18: 76,965,273		probably null	Het
Kcnq2	A	G	2: 181,109,789		probably benign	Het
Kdm7a	A	G	6: 39,165,130	F405L	probably damaging	Het
Lypd6b	C	A	2: 49,943,630		probably benign	Het
Mki67	A	T	7: 135,694,922	D2794E	possibly damaging	Het
Mtmr14	T	A	6: 113,266,326	F40I	probably damaging	Het
Olfr131	G	T	17: 38,082,653	S108R	possibly damaging	Het
Olfr213	T	A	6: 116,541,007	C185S	probably damaging	Het
Olfr476	A	T	7: 107,967,534	I46F	probably damaging	Het
Olfr986	A	T	9: 40,187,756	I214F	probably benign	Het
Ppargc1a	C	A	5: 51,474,322	V322L	probably benign	Het
Ppfibp1	T	A	6: 147,029,697	M917K	probably benign	Het
Prkg2	C	T	5: 98,969,936		probably null	Het
Rfx4	A	G	10: 84,868,382	E296G	possibly damaging	Het
Rfx8	T	A	1: 39,682,950	K292*	probably null	Het
Scamp3	C	A	3: 89,177,666		probably benign	Het
Scn4a	A	T	11: 106,330,364	I823N	possibly damaging	Het
Sdk2	A	G	11: 113,830,842	V1316A	probably damaging	Het
Setd2	T	C	9: 110,573,673	V1794A	probably damaging	Het
Stard8	G	T	X: 99,073,088	R983L	probably damaging	Het
Tbc1d23	A	T	16: 57,192,675	D311E	probably benign	Het
Tex21	T	C	12: 76,198,818	H568R	probably benign	Het
Tex35	T	C	1: 157,105,097		probably benign	Het
Tgs1	T	A	4: 3,591,292	F442I	possibly damaging	Het
Traf2	C	A	2: 25,524,919	C303F	probably benign	Het
Trim56	A	T	5: 137,114,500	V54D	possibly damaging	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het
Zfp668	A	T	7: 127,866,282	C577S	probably damaging	Het

Other mutations in Ano6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Ano6	APN	15	95913661	splice site	probably null
IGL01490:Ano6	APN	15	95948410	missense	probably benign	0.08
IGL01663:Ano6	APN	15	95967614	splice site	probably null
IGL01783:Ano6	APN	15	95962262	missense	possibly damaging	0.94
IGL02040:Ano6	APN	15	95955944	missense	probably benign	0.00
IGL02114:Ano6	APN	15	95943460	missense	probably damaging	0.96
IGL02683:Ano6	APN	15	95948312	missense	probably damaging	1.00
IGL03297:Ano6	APN	15	95962277	missense	probably damaging	1.00
IGL03401:Ano6	APN	15	95949905	missense	probably damaging	1.00
R0730:Ano6	UTSW	15	95920371	missense	probably damaging	1.00
R1086:Ano6	UTSW	15	95949962	splice site	probably null
R1264:Ano6	UTSW	15	95949566	missense	probably damaging	1.00
R1421:Ano6	UTSW	15	95913385	missense	probably benign	0.13
R1494:Ano6	UTSW	15	95972507	missense	probably damaging	0.98
R1755:Ano6	UTSW	15	95972570	missense	possibly damaging	0.74
R1757:Ano6	UTSW	15	95962267	missense	probably damaging	1.00
R2042:Ano6	UTSW	15	95956023	critical splice donor site	probably null
R2393:Ano6	UTSW	15	95966025	critical splice donor site	probably benign
R2415:Ano6	UTSW	15	95962280	missense	probably damaging	1.00
R2483:Ano6	UTSW	15	95965974	missense	probably benign	0.00
R2879:Ano6	UTSW	15	95943427	nonsense	probably null
R3440:Ano6	UTSW	15	95967721	missense	probably damaging	1.00
R3716:Ano6	UTSW	15	95913379	missense	probably damaging	1.00
R3717:Ano6	UTSW	15	95913379	missense	probably damaging	1.00
R3718:Ano6	UTSW	15	95913379	missense	probably damaging	1.00
R3887:Ano6	UTSW	15	95894449	missense	possibly damaging	0.64
R4175:Ano6	UTSW	15	95962169	missense	probably damaging	1.00
R4214:Ano6	UTSW	15	95965909	missense	probably benign
R4591:Ano6	UTSW	15	95943427	nonsense	probably null
R5249:Ano6	UTSW	15	95913588	missense	probably benign	0.35
R5383:Ano6	UTSW	15	95916037	missense	probably benign	0.00
R5496:Ano6	UTSW	15	95967614	splice site	probably null
R5532:Ano6	UTSW	15	95962241	missense	probably damaging	1.00
R5598:Ano6	UTSW	15	95941347	missense	probably damaging	1.00
R5645:Ano6	UTSW	15	95920351	missense	probably benign	0.03
R5739:Ano6	UTSW	15	95913379	missense	probably damaging	1.00
R5794:Ano6	UTSW	15	95894524	missense	probably benign	0.00
R5864:Ano6	UTSW	15	95920380	critical splice donor site	probably null
R5936:Ano6	UTSW	15	95972601	missense	probably damaging	1.00
R5937:Ano6	UTSW	15	95913957	missense	probably damaging	0.98
R6063:Ano6	UTSW	15	95948417	missense	probably damaging	1.00
R6191:Ano6	UTSW	15	95948499	critical splice donor site	probably null
R6275:Ano6	UTSW	15	95913433	missense	probably damaging	1.00
R6349:Ano6	UTSW	15	95966022	missense	probably damaging	0.97
R6468:Ano6	UTSW	15	95967714	missense	probably benign	0.01
R6734:Ano6	UTSW	15	95949536	missense	probably damaging	0.99
R6830:Ano6	UTSW	15	95894461	missense	probably damaging	1.00
R6883:Ano6	UTSW	15	95962111	missense	probably damaging	1.00
R6892:Ano6	UTSW	15	95967624	missense	probably damaging	1.00
R7171:Ano6	UTSW	15	95920291	missense	probably damaging	1.00
R7271:Ano6	UTSW	15	95913900	missense	probably damaging	1.00
R7284:Ano6	UTSW	15	95948303	missense	probably damaging	1.00
R7326:Ano6	UTSW	15	95864244	missense	possibly damaging	0.95
R7937:Ano6	UTSW	15	95972589	missense	probably damaging	1.00
R7944:Ano6	UTSW	15	95941309	missense	probably damaging	1.00
R7945:Ano6	UTSW	15	95941309	missense	probably damaging	1.00
R7954:Ano6	UTSW	15	95965821	missense	possibly damaging	0.93
R8496:Ano6	UTSW	15	95949926	missense	probably damaging	1.00
R8903:Ano6	UTSW	15	95927582	missense	probably benign	0.05
R8923:Ano6	UTSW	15	95913547	missense	probably damaging	1.00
R8980:Ano6	UTSW	15	95967682	missense	probably damaging	1.00
R9241:Ano6	UTSW	15	95791006	missense	probably benign	0.04
X0066:Ano6	UTSW	15	95943434	missense	probably damaging	0.99
Z1176:Ano6	UTSW	15	95913460	missense	probably damaging	1.00

Posted On

2013-06-21