Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01663:Ano6'

103252

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano6

Ensembl Gene

ENSMUSG00000064210

Gene Name

anoctamin 6

Synonyms

F730003B03Rik, 2900059G15Rik, Tmem16f

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.607) question?

Stock #

IGL01663

Quality Score

Status

Chromosome

Chromosomal Location

95688724-95872632 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 95865495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153954 (fasta)

Gene Model

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

AlphaFold

Q6P9J9

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

probably benign
Transcript: ENSMUST00000227151

Predicted Effect

probably null
Transcript: ENSMUST00000227791

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,168,628 (GRCm39)	I1085V	possibly damaging	Het
Adamts16	T	C	13: 70,941,260 (GRCm39)	T376A	probably benign	Het
Aifm3	T	A	16: 17,320,650 (GRCm39)		probably null	Het
Ankrd16	A	G	2: 11,783,473 (GRCm39)	E25G	probably damaging	Het
Cdh18	T	C	15: 23,446,077 (GRCm39)	I509T	possibly damaging	Het
Cdon	A	G	9: 35,394,510 (GRCm39)	T919A	possibly damaging	Het
Clca3a2	G	A	3: 144,522,916 (GRCm39)	P148L	probably damaging	Het
Dnph1	G	T	17: 46,809,408 (GRCm39)	R74L	probably benign	Het
Epha6	C	T	16: 59,596,007 (GRCm39)	A895T	probably damaging	Het
Exoc3l4	T	A	12: 111,395,845 (GRCm39)		probably benign	Het
Fbll1	A	G	11: 35,688,648 (GRCm39)	I205T	probably damaging	Het
Frem2	T	A	3: 53,424,434 (GRCm39)	H3001L	probably damaging	Het
Galk2	A	G	2: 125,825,099 (GRCm39)	N432D	probably benign	Het
Gm7535	A	C	17: 18,131,619 (GRCm39)		probably benign	Het
Il10	A	G	1: 130,949,151 (GRCm39)	E104G	probably benign	Het
Il1a	T	C	2: 129,146,637 (GRCm39)	K152R	probably benign	Het
Kdm1b	T	A	13: 47,227,213 (GRCm39)	N568K	probably damaging	Het
Kmt2c	A	C	5: 25,515,668 (GRCm39)	L2725R	probably damaging	Het
Krba1	G	T	6: 48,388,688 (GRCm39)	L527F	probably damaging	Het
Lrp2	A	G	2: 69,259,050 (GRCm39)	S4547P	probably benign	Het
Nin	G	T	12: 70,090,439 (GRCm39)	A992E	possibly damaging	Het
Or11g7	G	A	14: 50,690,607 (GRCm39)	V33M	probably benign	Het
Or5p81	T	A	7: 108,267,098 (GRCm39)	H158Q	probably benign	Het
Pcdhb1	A	G	18: 37,400,186 (GRCm39)	I712M	possibly damaging	Het
Prmt2	C	T	10: 76,053,143 (GRCm39)		probably null	Het
Rbm20	T	G	19: 53,829,426 (GRCm39)	V608G	probably damaging	Het
Smarcc2	C	T	10: 128,324,846 (GRCm39)		probably benign	Het
Speer3	A	T	5: 13,843,236 (GRCm39)	R48*	probably null	Het
Tlr1	A	T	5: 65,082,416 (GRCm39)	N720K	possibly damaging	Het
Tnfrsf21	A	T	17: 43,398,702 (GRCm39)	M603L	probably benign	Het
Ttc3	T	A	16: 94,210,590 (GRCm39)		probably null	Het
Usp4	C	A	9: 108,243,079 (GRCm39)	A249E	possibly damaging	Het
Wdr20	T	A	12: 110,759,948 (GRCm39)	V278E	probably damaging	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
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
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

Posted On

2014-01-21