Mutagenetix > Incidental Mutation

Incidental Mutation 'R2415:Ano6'

248985

Institutional Source

Beutler Lab

Gene Symbol

Ano6

Ensembl Gene

ENSMUSG00000064210

Gene Name

anoctamin 6

Synonyms

F730003B03Rik, 2900059G15Rik, Tmem16f

MMRRC Submission

040379-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.607) question?

Stock #

R2415 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95688724-95872632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95860161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 761 (N761I)

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: N740I

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

SMART Domains

Protein: ENSMUSP00000071770
Gene: ENSMUSG00000064210
AA Change: N740I

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

probably benign
Transcript: ENSMUST00000227151

Predicted Effect

probably damaging
Transcript: ENSMUST00000227791
AA Change: N761I

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

Meta Mutation Damage Score

0.9716

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (37/37)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad5	T	C	11: 79,985,077 (GRCm39)	S55P	probably damaging	Het
Cul9	T	A	17: 46,854,364 (GRCm39)	T113S	probably benign	Het
Ddx56	G	A	11: 6,211,727 (GRCm39)		probably benign	Het
Dnttip2	T	C	3: 122,070,186 (GRCm39)	V467A	probably damaging	Het
Efhb	A	T	17: 53,770,124 (GRCm39)	F62I	probably benign	Het
Efl1	T	A	7: 82,347,175 (GRCm39)	M567K	probably damaging	Het
Fbxw21	G	T	9: 108,985,469 (GRCm39)	A103E	possibly damaging	Het
Flnb	T	A	14: 7,929,932 (GRCm38)	S2021T	probably benign	Het
Gabpa	T	C	16: 84,641,256 (GRCm39)		probably null	Het
Grid1	A	T	14: 35,172,326 (GRCm39)	I611F	possibly damaging	Het
Hdac1	A	C	4: 129,416,754 (GRCm39)		probably null	Het
Kcnk5	T	C	14: 20,191,880 (GRCm39)	E427G	possibly damaging	Het
Kcnu1	A	T	8: 26,400,906 (GRCm39)	T685S	probably benign	Het
Khdc1b	A	G	1: 21,454,534 (GRCm39)	D79G	probably benign	Het
Ky	G	T	9: 102,419,090 (GRCm39)	G366W	probably damaging	Het
Limch1	T	C	5: 67,131,977 (GRCm39)	S147P	probably damaging	Het
Mroh1	A	G	15: 76,305,411 (GRCm39)	K405E	probably damaging	Het
Myo15b	T	G	11: 115,770,390 (GRCm39)	F67V	probably benign	Het
Nlrp4c	A	G	7: 6,069,047 (GRCm39)	D316G	probably damaging	Het
Nudt12	A	G	17: 59,313,603 (GRCm39)	V325A	probably damaging	Het
Pdia4	G	T	6: 47,783,490 (GRCm39)	D184E	probably benign	Het
Per3	A	C	4: 151,097,147 (GRCm39)	F793V	possibly damaging	Het
Pla1a	T	A	16: 38,228,112 (GRCm39)	Y255F	possibly damaging	Het
Rxfp1	A	G	3: 79,570,626 (GRCm39)	S269P	probably benign	Het
S100pbp	A	T	4: 129,075,614 (GRCm39)	V118D	possibly damaging	Het
Sec24b	A	T	3: 129,789,729 (GRCm39)	I764N	probably benign	Het
Sh3bp1	C	T	15: 78,785,361 (GRCm39)		probably benign	Het
Surf6	C	T	2: 26,782,274 (GRCm39)	R351H	probably damaging	Het
Tspan15	A	G	10: 62,037,570 (GRCm39)	I115T	probably benign	Het
Vmn2r73	T	C	7: 85,521,431 (GRCm39)	Y179C	probably damaging	Het
Zfp750	T	C	11: 121,403,305 (GRCm39)	D481G	probably benign	Het

Other mutations in Ano6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Ano6	APN	15	95,846,310 (GRCm39)	missense	probably damaging	1.00
IGL01308:Ano6	APN	15	95,811,542 (GRCm39)	splice site	probably null
IGL01490:Ano6	APN	15	95,846,291 (GRCm39)	missense	probably benign	0.08
IGL01663:Ano6	APN	15	95,865,495 (GRCm39)	splice site	probably null
IGL01783:Ano6	APN	15	95,860,143 (GRCm39)	missense	possibly damaging	0.94
IGL02040:Ano6	APN	15	95,853,825 (GRCm39)	missense	probably benign	0.00
IGL02114:Ano6	APN	15	95,841,341 (GRCm39)	missense	probably damaging	0.96
IGL02683:Ano6	APN	15	95,846,193 (GRCm39)	missense	probably damaging	1.00
IGL03297:Ano6	APN	15	95,860,158 (GRCm39)	missense	probably damaging	1.00
IGL03401:Ano6	APN	15	95,847,786 (GRCm39)	missense	probably damaging	1.00
R0730:Ano6	UTSW	15	95,818,252 (GRCm39)	missense	probably damaging	1.00
R1086:Ano6	UTSW	15	95,847,843 (GRCm39)	splice site	probably null
R1264:Ano6	UTSW	15	95,847,447 (GRCm39)	missense	probably damaging	1.00
R1421:Ano6	UTSW	15	95,811,266 (GRCm39)	missense	probably benign	0.13
R1494:Ano6	UTSW	15	95,870,388 (GRCm39)	missense	probably damaging	0.98
R1755:Ano6	UTSW	15	95,870,451 (GRCm39)	missense	possibly damaging	0.74
R1757:Ano6	UTSW	15	95,860,148 (GRCm39)	missense	probably damaging	1.00
R2042:Ano6	UTSW	15	95,853,904 (GRCm39)	critical splice donor site	probably null
R2393:Ano6	UTSW	15	95,863,906 (GRCm39)	critical splice donor site	probably benign
R2483:Ano6	UTSW	15	95,863,855 (GRCm39)	missense	probably benign	0.00
R2879:Ano6	UTSW	15	95,841,308 (GRCm39)	nonsense	probably null
R3440:Ano6	UTSW	15	95,865,602 (GRCm39)	missense	probably damaging	1.00
R3716:Ano6	UTSW	15	95,811,260 (GRCm39)	missense	probably damaging	1.00
R3717:Ano6	UTSW	15	95,811,260 (GRCm39)	missense	probably damaging	1.00
R3718:Ano6	UTSW	15	95,811,260 (GRCm39)	missense	probably damaging	1.00
R3887:Ano6	UTSW	15	95,792,330 (GRCm39)	missense	possibly damaging	0.64
R4175:Ano6	UTSW	15	95,860,050 (GRCm39)	missense	probably damaging	1.00
R4214:Ano6	UTSW	15	95,863,790 (GRCm39)	missense	probably benign
R4591:Ano6	UTSW	15	95,841,308 (GRCm39)	nonsense	probably null
R5249:Ano6	UTSW	15	95,811,469 (GRCm39)	missense	probably benign	0.35
R5383:Ano6	UTSW	15	95,813,918 (GRCm39)	missense	probably benign	0.00
R5496:Ano6	UTSW	15	95,865,495 (GRCm39)	splice site	probably null
R5532:Ano6	UTSW	15	95,860,122 (GRCm39)	missense	probably damaging	1.00
R5598:Ano6	UTSW	15	95,839,228 (GRCm39)	missense	probably damaging	1.00
R5645:Ano6	UTSW	15	95,818,232 (GRCm39)	missense	probably benign	0.03
R5739:Ano6	UTSW	15	95,811,260 (GRCm39)	missense	probably damaging	1.00
R5794:Ano6	UTSW	15	95,792,405 (GRCm39)	missense	probably benign	0.00
R5864:Ano6	UTSW	15	95,818,261 (GRCm39)	critical splice donor site	probably null
R5936:Ano6	UTSW	15	95,870,482 (GRCm39)	missense	probably damaging	1.00
R5937:Ano6	UTSW	15	95,811,838 (GRCm39)	missense	probably damaging	0.98
R6063:Ano6	UTSW	15	95,846,298 (GRCm39)	missense	probably damaging	1.00
R6191:Ano6	UTSW	15	95,846,380 (GRCm39)	critical splice donor site	probably null
R6275:Ano6	UTSW	15	95,811,314 (GRCm39)	missense	probably damaging	1.00
R6349:Ano6	UTSW	15	95,863,903 (GRCm39)	missense	probably damaging	0.97
R6468:Ano6	UTSW	15	95,865,595 (GRCm39)	missense	probably benign	0.01
R6734:Ano6	UTSW	15	95,847,417 (GRCm39)	missense	probably damaging	0.99
R6830:Ano6	UTSW	15	95,792,342 (GRCm39)	missense	probably damaging	1.00
R6883:Ano6	UTSW	15	95,859,992 (GRCm39)	missense	probably damaging	1.00
R6892:Ano6	UTSW	15	95,865,505 (GRCm39)	missense	probably damaging	1.00
R7171:Ano6	UTSW	15	95,818,172 (GRCm39)	missense	probably damaging	1.00
R7271:Ano6	UTSW	15	95,811,781 (GRCm39)	missense	probably damaging	1.00
R7284:Ano6	UTSW	15	95,846,184 (GRCm39)	missense	probably damaging	1.00
R7326:Ano6	UTSW	15	95,762,125 (GRCm39)	missense	possibly damaging	0.95
R7937:Ano6	UTSW	15	95,870,470 (GRCm39)	missense	probably damaging	1.00
R7944:Ano6	UTSW	15	95,839,190 (GRCm39)	missense	probably damaging	1.00
R7945:Ano6	UTSW	15	95,839,190 (GRCm39)	missense	probably damaging	1.00
R7954:Ano6	UTSW	15	95,863,702 (GRCm39)	missense	possibly damaging	0.93
R8496:Ano6	UTSW	15	95,847,807 (GRCm39)	missense	probably damaging	1.00
R8903:Ano6	UTSW	15	95,825,463 (GRCm39)	missense	probably benign	0.05
R8923:Ano6	UTSW	15	95,811,428 (GRCm39)	missense	probably damaging	1.00
R8980:Ano6	UTSW	15	95,865,563 (GRCm39)	missense	probably damaging	1.00
R9241:Ano6	UTSW	15	95,688,887 (GRCm39)	missense	probably benign	0.04
X0066:Ano6	UTSW	15	95,841,315 (GRCm39)	missense	probably damaging	0.99
Z1176:Ano6	UTSW	15	95,811,341 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCATGATGTGTGTCCATTCC -3'
(R):5'- GACAGTTGCATAACAATTAGATGCC -3'

Sequencing Primer
(F):5'- TGTGTCCATTCCGTTGACAG -3'
(R):5'- GGAGAAGAACACTTGCTGCTCTTAC -3'

Posted On

2014-11-12