Mutagenetix > Incidental Mutation

Incidental Mutation 'R1264:Ano6'

151125

Institutional Source

Beutler Lab

Gene Symbol

Ano6

Ensembl Gene

ENSMUSG00000064210

Gene Name

anoctamin 6

Synonyms

F730003B03Rik, 2900059G15Rik, Tmem16f

MMRRC Submission

039331-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.607) question?

Stock #

R1264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95688724-95872632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95847447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 585 (Y585C)

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: Y564C

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

SMART Domains

Protein: ENSMUSP00000071770
Gene: ENSMUSG00000064210
AA Change: Y564C

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: Y585C

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

Meta Mutation Damage Score

0.9702

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (35/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,592,103 (GRCm39)		probably benign	Het
Acadl	A	T	1: 66,896,712 (GRCm39)	C27S	probably benign	Het
Adgrb3	C	T	1: 25,598,931 (GRCm39)	G258E	probably damaging	Het
Akna	T	C	4: 63,299,962 (GRCm39)		probably null	Het
Angpt2	T	C	8: 18,791,233 (GRCm39)	N21S	probably benign	Het
Ascc3	A	T	10: 50,518,615 (GRCm39)		probably benign	Het
Clec10a	T	A	11: 70,060,567 (GRCm39)	S103T	possibly damaging	Het
Clstn2	T	C	9: 97,339,662 (GRCm39)	R770G	probably benign	Het
Cndp2	C	A	18: 84,696,916 (GRCm39)	C95F	possibly damaging	Het
Col12a1	A	G	9: 79,527,371 (GRCm39)	V2653A	probably benign	Het
Col4a3	A	T	1: 82,621,022 (GRCm39)		probably benign	Het
Daam1	A	G	12: 72,022,085 (GRCm39)		probably benign	Het
H2-M9	A	G	17: 36,953,484 (GRCm39)	V18A	probably benign	Het
Heatr1	T	A	13: 12,439,491 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,221,675 (GRCm39)	D715G	probably benign	Het
Incenp	T	C	19: 9,861,379 (GRCm39)	K425E	unknown	Het
Kif13b	T	C	14: 65,013,681 (GRCm39)		probably benign	Het
Msh2	T	A	17: 88,014,607 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,071,604 (GRCm39)	N474D	probably damaging	Het
Myo18b	T	C	5: 112,978,185 (GRCm39)	T1246A	probably benign	Het
Nob1	T	C	8: 108,148,136 (GRCm39)	H102R	probably damaging	Het
Or4z4	G	T	19: 12,076,198 (GRCm39)	D268E	probably benign	Het
Pard3b	A	T	1: 62,203,316 (GRCm39)	I415F	probably damaging	Het
Pfkl	T	G	10: 77,829,250 (GRCm39)	K386T	possibly damaging	Het
Plekhs1	T	C	19: 56,474,195 (GRCm39)	V447A	probably benign	Het
Poli	C	T	18: 70,650,574 (GRCm39)	V266I	probably benign	Het
Rapgef4	A	T	2: 71,861,449 (GRCm39)	K46N	possibly damaging	Het
Shisa6	T	C	11: 66,265,975 (GRCm39)		probably benign	Het
Six3	T	A	17: 85,929,285 (GRCm39)	D206E	probably damaging	Het
Slc12a1	A	T	2: 125,060,158 (GRCm39)	E944D	possibly damaging	Het
Sptb	A	G	12: 76,659,381 (GRCm39)	F1173S	probably damaging	Het
Tfdp1	C	A	8: 13,423,837 (GRCm39)		probably benign	Het
Trrap	A	G	5: 144,726,409 (GRCm39)		probably benign	Het
Wbp11	A	G	6: 136,791,513 (GRCm39)		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
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
R2415:Ano6	UTSW	15	95,860,161 (GRCm39)	missense	probably damaging	1.00
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'- GTGGGTTTAATCCCTAGCACCACAAC -3'
(R):5'- CCAGGTGTAGTAACTTGCAAAGAAGCG -3'

Sequencing Primer
(F):5'- AATCGTATTTCTTTCGgtgtgtgtg -3'
(R):5'- CACAAGGAAGTCACTATTCATTAGGC -3'

Posted On

2014-01-29