Mutagenetix > Incidental Mutations

Incidental Mutation 'R6191:Ano6'

502596

Institutional Source

Beutler Lab

Gene Symbol

Ano6

Ensembl Gene

ENSMUSG00000064210

Gene Name

anoctamin 6

Synonyms

Tmem16f, 2900059G15Rik, F730003B03Rik

MMRRC Submission

044331-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.522) question?

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95790843-95974751 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 95948499 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153954 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000071874

SMART Domains

Protein: ENSMUSP00000071770
Gene: ENSMUSG00000064210

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 null
Transcript: ENSMUST00000227791

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 56,002,523	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,245,538	K334N	probably benign	Het
Ap1m2	C	A	9: 21,299,305	V343F	probably benign	Het
Apol6	T	C	15: 77,055,898	V307A	probably benign	Het
Arsi	C	A	18: 60,912,472	A78E	probably damaging	Het
B2m	A	T	2: 122,150,915	N37I	possibly damaging	Het
C8a	T	C	4: 104,845,903	K363R	probably benign	Het
Ccdc117	C	A	11: 5,534,242		probably null	Het
Ccdc154	C	A	17: 25,167,971	Q325K	probably damaging	Het
Cd300e	A	T	11: 115,054,533	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,317,393	P673Q	probably damaging	Het
Csn2	A	G	5: 87,696,026		probably null	Het
Ctnna1	T	C	18: 35,174,355	V135A	probably damaging	Het
Dnah11	T	A	12: 118,190,897	D216V	probably benign	Het
Dnah12	A	G	14: 26,710,257	H410R	probably benign	Het
Dock2	C	T	11: 34,231,652	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,177,348	N526D	unknown	Het
Frem2	T	C	3: 53,655,280	H602R	probably benign	Het
Galc	A	T	12: 98,252,034	H186Q	probably damaging	Het
Grina	T	C	15: 76,249,018	V262A	probably damaging	Het
Gse1	G	A	8: 120,553,803		probably null	Het
H2-Oa	C	A	17: 34,093,868	Q40K	probably damaging	Het
Hfm1	C	A	5: 106,886,553	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,458,746	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,889,203	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Itpr2	A	G	6: 146,328,335	V1221A	probably benign	Het
K230010J24Rik	T	C	15: 76,046,369		probably null	Het
Kdm6b	T	C	11: 69,406,758	N285S	probably benign	Het
Klk1b1	T	A	7: 43,970,657	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,826,828		probably benign	Het
Lama5	T	A	2: 180,180,611	T2890S	probably damaging	Het
Lama5	T	C	2: 180,185,959	D2170G	probably damaging	Het
Lsm2	T	A	17: 34,982,155		probably benign	Het
Map3k5	G	T	10: 20,023,669	C232F	probably damaging	Het
Mapk9	T	G	11: 49,863,556	D45E	probably damaging	Het
Mpnd	T	C	17: 56,012,482	V315A	possibly damaging	Het
Msh2	A	G	17: 87,723,472	I926V	probably benign	Het
Mtcl1	C	T	17: 66,343,526	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,627,990		probably null	Het
Neo1	T	C	9: 58,889,029	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,570,859	S259G	probably benign	Het
Nkain4	G	A	2: 180,936,003	P186L	probably damaging	Het
Nkain4	G	A	2: 180,936,004	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,218,457	R73*	probably null	Het
Nr5a2	T	C	1: 136,890,798	D330G	probably damaging	Het
Nup54	A	G	5: 92,424,294	L299P	probably damaging	Het
Olfr259	A	G	2: 87,107,952	V145A	probably damaging	Het
Olfr56	T	C	11: 49,135,050	L286P	probably damaging	Het
Pcdhb8	T	A	18: 37,356,226	V319E	probably benign	Het
Pcsk6	T	A	7: 65,929,127	D129E	probably benign	Het
Pld5	G	A	1: 175,970,534	T433I	probably benign	Het
Plin1	A	T	7: 79,721,599	L459H	probably benign	Het
Psd4	T	C	2: 24,394,487	V121A	probably damaging	Het
Pxdn	A	T	12: 29,982,717	I167F	possibly damaging	Het
R3hdm2	T	C	10: 127,484,515	S569P	probably damaging	Het
Rfng	T	A	11: 120,782,690	T202S	probably damaging	Het
Robo1	T	C	16: 72,933,808	S266P	probably benign	Het
Sema3c	G	T	5: 17,653,806	V68L	probably damaging	Het
Slco6c1	C	T	1: 97,066,083	R645H	possibly damaging	Het
Slfn8	A	G	11: 83,016,800	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,838,052	D144G	probably damaging	Het
St7l	T	G	3: 104,868,033	F75C	probably damaging	Het
Stard10	A	G	7: 101,343,261	I145V	probably damaging	Het
Tekt3	C	T	11: 63,078,173	A242V	probably damaging	Het
Tex44	A	G	1: 86,426,584		probably benign	Het
Thg1l	T	C	11: 45,954,161	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,346,287	I67N	probably damaging	Het
Ttn	G	A	2: 76,847,426		probably benign	Het
Ube4a	A	T	9: 44,949,753	L253*	probably null	Het
Uggt1	A	T	1: 36,162,208	N1150K	probably damaging	Het
Uhrf1bp1l	G	T	10: 89,805,318	G784C	possibly damaging	Het
Ush2a	T	A	1: 188,263,101	L23*	probably null	Het
Usp22	T	A	11: 61,174,776	N37I	probably benign	Het
Usp53	T	A	3: 122,949,741	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,415,281	K6E	probably benign	Het
Vps13d	C	T	4: 145,149,348	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,114,531	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,264,330	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,990,170		probably benign	Het
Zfp345	A	C	2: 150,473,090	Y176D	probably benign	Het
Zfp598	T	C	17: 24,677,876	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,502,994	D10G	probably damaging	Het
Zmat4	T	G	8: 23,902,067	M13R	probably damaging	Het

Other mutations in Ano6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Ano6	APN	15	95948429	missense	probably damaging	1.00
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
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
X0066:Ano6	UTSW	15	95943434	missense	probably damaging	0.99
Z1176:Ano6	UTSW	15	95913460	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCATCGCCTCTGTGATCGG -3'
(R):5'- TTCAGCCAGACGTGCCTATAG -3'

Sequencing Primer
(F):5'- ATCGGGATCATTGTCTACAGGC -3'
(R):5'- TGCCTATAGAGCTCGGACATGAC -3'

Posted On

2018-02-27