Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01490:Ano6'

88821

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 #

IGL01490

Quality Score

Status

Chromosome

Chromosomal Location

95688724-95872632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95846291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 510 (S510T)

Ref Sequence

ENSEMBL: ENSMUSP00000071770 (fasta)

Gene Model

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

AlphaFold

Q6P9J9

Predicted Effect

probably benign
Transcript: ENSMUST00000071874
AA Change: S510T

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071770
Gene: ENSMUSG00000064210
AA Change: S510T

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 benign
Transcript: ENSMUST00000227791
AA Change: S531T

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,336,023 (GRCm39)	Y2131C	probably damaging	Het
Asb16	A	T	11: 102,167,575 (GRCm39)	N314Y	probably damaging	Het
Atp6v0b	G	A	4: 117,742,303 (GRCm39)	Q150*	probably null	Het
Chct1	A	G	11: 85,069,138 (GRCm39)	D52G	probably damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cmklr2	T	C	1: 63,222,455 (GRCm39)	Y260C	probably damaging	Het
Crim1	A	G	17: 78,642,725 (GRCm39)	D481G	possibly damaging	Het
Dnajb2	T	C	1: 75,213,534 (GRCm39)	S3P	probably damaging	Het
Dnajb9	A	T	12: 44,253,869 (GRCm39)	S179R	possibly damaging	Het
Dock2	A	T	11: 34,596,608 (GRCm39)	I416N	probably damaging	Het
Dock7	G	T	4: 98,833,355 (GRCm39)		probably benign	Het
Eif6	T	C	2: 155,668,102 (GRCm39)	I46V	probably benign	Het
Fcgr1	T	C	3: 96,191,686 (GRCm39)	D374G	probably benign	Het
Gatad2b	A	G	3: 90,259,385 (GRCm39)	I374V	possibly damaging	Het
Gfpt2	T	C	11: 49,717,954 (GRCm39)		probably benign	Het
H2-M10.2	G	T	17: 36,596,377 (GRCm39)	T156K	probably damaging	Het
Il20rb	T	A	9: 100,355,207 (GRCm39)	I79F	probably damaging	Het
Kcnip3	C	T	2: 127,352,799 (GRCm39)	R44H	probably benign	Het
Lama1	A	T	17: 68,057,579 (GRCm39)	D551V	possibly damaging	Het
Mex3b	C	A	7: 82,519,035 (GRCm39)	P450Q	possibly damaging	Het
Mmp20	T	C	9: 7,628,330 (GRCm39)	L26P	probably benign	Het
Msh3	G	A	13: 92,436,813 (GRCm39)	T499M	probably damaging	Het
Myo18b	T	C	5: 112,957,566 (GRCm39)	S1466G	possibly damaging	Het
Myom3	A	G	4: 135,538,089 (GRCm39)	R1324G	possibly damaging	Het
Nxph3	A	G	11: 95,401,919 (GRCm39)	I165T	possibly damaging	Het
Prex2	G	A	1: 11,254,769 (GRCm39)		probably null	Het
Ptpn6	T	A	6: 124,705,307 (GRCm39)	E208V	probably damaging	Het
Qpct	T	C	17: 79,397,169 (GRCm39)	V354A	probably benign	Het
Rfx4	A	G	10: 84,676,715 (GRCm39)	I108V	possibly damaging	Het
Tmem67	A	G	4: 12,057,422 (GRCm39)		probably benign	Het
Trappc12	A	T	12: 28,796,914 (GRCm39)	I206N	probably damaging	Het
Vmn1r173	A	T	7: 23,402,132 (GRCm39)	K122N	probably benign	Het
Wdr35	G	T	12: 9,027,381 (GRCm39)	G54V	probably damaging	Het
Zfyve26	A	T	12: 79,291,147 (GRCm39)	C2153S	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
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
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

2013-11-18