Incidental Mutation 'R3717:Ano6'
| ID |
259973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano6
|
| Ensembl Gene |
ENSMUSG00000064210 |
| Gene Name |
anoctamin 6 |
| Synonyms |
F730003B03Rik, 2900059G15Rik, Tmem16f |
| MMRRC Submission |
040709-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.552)
|
| Stock # |
R3717 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| 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: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd10 |
C |
T |
16: 45,552,137 (GRCm39) |
W245* |
probably null |
Het |
| Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Bpifb6 |
A |
G |
2: 153,750,061 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,948,386 (GRCm39) |
V232A |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,228,995 (GRCm39) |
M2031K |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
| Fetub |
T |
A |
16: 22,754,443 (GRCm39) |
C217S |
probably damaging |
Het |
| Fgfr2 |
G |
A |
7: 129,784,487 (GRCm39) |
T270M |
probably damaging |
Het |
| Hoxd10 |
C |
T |
2: 74,524,474 (GRCm39) |
T262I |
probably damaging |
Het |
| Htt |
G |
A |
5: 34,968,866 (GRCm39) |
|
probably benign |
Het |
| Kbtbd3 |
A |
T |
9: 4,330,598 (GRCm39) |
H324L |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,498,587 (GRCm39) |
L584Q |
probably damaging |
Het |
| Mtrex |
A |
G |
13: 113,032,129 (GRCm39) |
F561S |
probably damaging |
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 |
| Nxpe5 |
T |
C |
5: 138,249,886 (GRCm39) |
S559P |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,973,487 (GRCm39) |
C2157Y |
probably damaging |
Het |
| Or10q12 |
A |
G |
19: 13,746,428 (GRCm39) |
R241G |
probably damaging |
Het |
| Or9k2b |
T |
A |
10: 130,016,369 (GRCm39) |
I127F |
possibly damaging |
Het |
| Ptx3 |
G |
T |
3: 66,132,376 (GRCm39) |
S299I |
probably benign |
Het |
| Rbbp4 |
T |
A |
4: 129,222,425 (GRCm39) |
D89V |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,716,088 (GRCm39) |
E375G |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,999,420 (GRCm39) |
|
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 |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Spata18 |
A |
T |
5: 73,824,193 (GRCm39) |
|
probably null |
Het |
| St8sia6 |
T |
C |
2: 13,661,745 (GRCm39) |
N362S |
possibly damaging |
Het |
| Tmub2 |
G |
T |
11: 102,175,887 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,775,054 (GRCm39) |
D1996G |
possibly damaging |
Het |
| Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
| Vdac1 |
A |
G |
11: 52,267,473 (GRCm39) |
|
probably null |
Het |
| Vps51 |
G |
A |
19: 6,127,198 (GRCm39) |
|
probably benign |
Het |
| Zfp90 |
A |
G |
8: 107,150,682 (GRCm39) |
R132G |
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 |
|
|
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 |
|
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'- GTGCTGACAAATATACAGTGTGC -3'
(R):5'- ATGACACTCTCGTTCACCCG -3'
Sequencing Primer
(F):5'- ATGCTAGCTCCATGGAATCTGGC -3'
(R):5'- CGGAGGACCTTGGTGAAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation