Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03401:Ano6'

421435

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 #

IGL03401

Quality Score

Status

Chromosome

Chromosomal Location

95688724-95872632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95847786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 611 (I611T)

Ref Sequence

ENSEMBL: ENSMUSP00000071770 (fasta)

Gene Model

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

AlphaFold

Q6P9J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071874
AA Change: I611T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071770
Gene: ENSMUSG00000064210
AA Change: I611T

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: I632T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,223 (GRCm39)	R581*	probably null	Het
Actn1	A	T	12: 80,215,741 (GRCm39)	L799*	probably null	Het
Adam12	A	T	7: 133,518,192 (GRCm39)	N327K	probably damaging	Het
Adamts9	A	G	6: 92,763,849 (GRCm39)	V1314A	probably damaging	Het
Agbl4	G	T	4: 110,976,216 (GRCm39)	R191L	probably damaging	Het
Arhgef26	T	A	3: 62,330,953 (GRCm39)	S556T	possibly damaging	Het
AW209491	A	G	13: 14,812,041 (GRCm39)	D298G	probably benign	Het
Cc2d1a	A	G	8: 84,861,258 (GRCm39)	M763T	probably benign	Het
Cep290	A	G	10: 100,336,127 (GRCm39)	D388G	probably benign	Het
Cept1	T	C	3: 106,440,706 (GRCm39)	E151G	probably damaging	Het
Chat	T	C	14: 32,174,526 (GRCm39)	K139E	probably damaging	Het
Edc4	T	A	8: 106,614,146 (GRCm39)	Y7*	probably null	Het
Enpep	T	A	3: 129,106,269 (GRCm39)	Q319L	probably benign	Het
F13a1	A	G	13: 37,082,054 (GRCm39)	I550T	probably benign	Het
Fbxw19	A	G	9: 109,324,038 (GRCm39)		probably null	Het
Frem3	T	G	8: 81,341,170 (GRCm39)	D1154E	probably damaging	Het
Frmpd1	G	T	4: 45,284,383 (GRCm39)	C1068F	probably benign	Het
Fsip2	C	A	2: 82,820,814 (GRCm39)	P5516T	probably benign	Het
Hyou1	G	A	9: 44,296,206 (GRCm39)	A429T	probably damaging	Het
Lrp1b	C	T	2: 41,000,790 (GRCm39)	E2145K	probably benign	Het
Map1b	A	T	13: 99,563,776 (GRCm39)	V2397D	unknown	Het
Mcm3ap	T	C	10: 76,320,483 (GRCm39)		probably benign	Het
Mgst2	T	G	3: 51,571,933 (GRCm39)	S20R	possibly damaging	Het
Nr4a3	T	A	4: 48,070,987 (GRCm39)		probably null	Het
Nup93	T	A	8: 95,036,339 (GRCm39)		probably null	Het
Or1e1f	T	C	11: 73,856,388 (GRCm39)		probably benign	Het
Papola	A	T	12: 105,795,381 (GRCm39)	T611S	probably benign	Het
Pik3ca	C	A	3: 32,491,963 (GRCm39)		probably null	Het
Pklr	T	C	3: 89,050,036 (GRCm39)	V337A	probably benign	Het
Prl7b1	A	G	13: 27,785,964 (GRCm39)	Y235H	probably benign	Het
Proc	T	C	18: 32,256,326 (GRCm39)	Y447C	possibly damaging	Het
Pum1	T	C	4: 130,470,992 (GRCm39)		probably benign	Het
Rimklb	A	T	6: 122,441,077 (GRCm39)	I32N	probably damaging	Het
Rrm1	T	A	7: 102,114,951 (GRCm39)	D644E	possibly damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Shbg	A	G	11: 69,505,925 (GRCm39)	S361P	probably damaging	Het
Trmt9b	A	C	8: 36,972,823 (GRCm39)	D91A	probably damaging	Het
Zfp647	T	A	15: 76,795,568 (GRCm39)	H364L	probably damaging	Het
Zfp715	A	T	7: 42,949,160 (GRCm39)	S267T	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
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

2016-08-02