Mutagenetix > Incidental Mutation

Incidental Mutation 'R3718:Ano6'

258801

Institutional Source

Beutler Lab

Gene Symbol

Ano6

Ensembl Gene

ENSMUSG00000064210

Gene Name

anoctamin 6

Synonyms

F730003B03Rik, 2900059G15Rik, Tmem16f

MMRRC Submission

040710-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.607) question?

Stock #

R3718 (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 95811260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 120 (D120G)

Ref Sequence

ENSEMBL: ENSMUSP00000153853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071874] [ENSMUST00000226793] [ENSMUST00000227151] [ENSMUST00000227791]

AlphaFold

Q6P9J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071874
AA Change: D120G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071770
Gene: ENSMUSG00000064210
AA Change: D120G

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

possibly damaging
Transcript: ENSMUST00000226793
AA Change: D106G

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227151
AA Change: D120G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227791
AA Change: D141G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.1803

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (36/37)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	T	C	15: 41,729,689 (GRCm39)	D237G	probably benign	Het
Alas2	T	C	X: 149,343,726 (GRCm39)		probably benign	Het
Aspm	T	C	1: 139,408,627 (GRCm39)	Y2505H	probably benign	Het
Aspm	G	A	1: 139,418,165 (GRCm39)	V2965I	probably benign	Het
Ccna2	A	T	3: 36,620,387 (GRCm39)	V285E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnajc10	A	G	2: 80,155,089 (GRCm39)		probably benign	Het
Dpp3	A	G	19: 4,973,093 (GRCm39)		probably null	Het
Gng11	G	A	6: 4,008,078 (GRCm39)	R47H	probably benign	Het
Hivep1	C	T	13: 42,311,971 (GRCm39)	H1404Y	probably damaging	Het
Il18r1	A	G	1: 40,534,948 (GRCm39)	E381G	probably benign	Het
Il9	G	A	13: 56,627,264 (GRCm39)	T116I	probably damaging	Het
Kcnh1	A	G	1: 191,921,107 (GRCm39)	T129A	probably damaging	Het
Mroh7	T	C	4: 106,561,407 (GRCm39)	E612G	probably benign	Het
Nav1	A	T	1: 135,378,368 (GRCm39)	I1653K	probably damaging	Het
Neb	T	C	2: 52,167,482 (GRCm39)	E1948G	probably damaging	Het
Ntsr1	T	C	2: 180,184,499 (GRCm39)	F401L	probably benign	Het
Nup210	A	T	6: 90,997,162 (GRCm39)	D1626E	probably benign	Het
Or10q12	A	G	19: 13,746,428 (GRCm39)	R241G	probably damaging	Het
Or4k35	A	G	2: 111,100,571 (GRCm39)	V47A	probably benign	Het
Or8g26	A	G	9: 39,096,361 (GRCm39)	R293G	probably damaging	Het
Pign	A	G	1: 105,577,006 (GRCm39)		probably null	Het
Rad54l2	A	G	9: 106,570,726 (GRCm39)	V1198A	probably benign	Het
Sh3tc2	T	C	18: 62,123,414 (GRCm39)	V725A	probably benign	Het
Skint10	A	T	4: 112,603,936 (GRCm39)	W84R	probably damaging	Het
Slc40a1	G	T	1: 45,950,151 (GRCm39)	H434N	probably benign	Het
Trdv2-1	T	C	14: 54,183,995 (GRCm39)	Y76H	probably benign	Het
Trim43c	T	C	9: 88,727,030 (GRCm39)	S286P	probably benign	Het
Ttn	G	A	2: 76,575,558 (GRCm39)	P25112S	probably damaging	Het
Ubac1	C	T	2: 25,904,953 (GRCm39)	R95H	probably damaging	Het
Vps13d	A	G	4: 144,802,296 (GRCm39)	I405T	probably damaging	Het
Zc3hav1l	G	T	6: 38,272,060 (GRCm39)	S236R	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
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
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'- TGTGTGCTGACAAATATACAGTGTG -3'
(R):5'- ATGACACTCTCGTTCACCCG -3'

Sequencing Primer
(F):5'- ATGCTAGCTCCATGGAATCTGGC -3'
(R):5'- CGGAGGACCTTGGTGAAC -3'

Posted On

2015-01-23