Incidental Mutation 'R4352:Ano3'
| ID |
327318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano3
|
| Ensembl Gene |
ENSMUSG00000074968 |
| Gene Name |
anoctamin 3 |
| Synonyms |
B230324K02Rik, Tmem16c |
| MMRRC Submission |
041668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R4352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
110485546-110780854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110576239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 94
(E94V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099623]
[ENSMUST00000140777]
|
| AlphaFold |
A2AHL1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099623
AA Change: E438V
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: E438V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoct_dimer
|
156 |
381 |
2.9e-70 |
PFAM |
|
Pfam:Anoctamin
|
384 |
950 |
4.4e-138 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111019
|
| SMART Domains |
Protein: ENSMUSP00000106648
Gene: ENSMUSG00000074968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
384 |
627 |
6.3e-60 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140777
AA Change: E94V
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122387
Gene: ENSMUSG00000074968
AA Change: E94V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
40 |
141 |
5.7e-24 |
PFAM |
|
| Meta Mutation Damage Score |
0.1373 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (79/82) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abtb2 |
T |
A |
2: 103,513,738 (GRCm39) |
D382E |
possibly damaging |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Ankrd54 |
A |
T |
15: 78,939,662 (GRCm39) |
F176I |
probably benign |
Het |
| Arid1b |
A |
T |
17: 5,147,859 (GRCm39) |
Q587L |
possibly damaging |
Het |
| Atg2a |
G |
A |
19: 6,307,487 (GRCm39) |
V1474M |
probably benign |
Het |
| Bcl2a1d |
A |
G |
9: 88,613,552 (GRCm39) |
V74A |
probably damaging |
Het |
| Bmper |
A |
G |
9: 23,395,248 (GRCm39) |
I660V |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,105,365 (GRCm39) |
M1K |
probably null |
Het |
| Ctr9 |
T |
A |
7: 110,648,525 (GRCm39) |
Y722N |
probably damaging |
Het |
| Ddx47 |
C |
T |
6: 134,995,018 (GRCm39) |
T161I |
probably benign |
Het |
| Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,630,140 (GRCm39) |
L957Q |
probably null |
Het |
| Emilin2 |
T |
C |
17: 71,587,726 (GRCm39) |
M129V |
probably benign |
Het |
| Eml1 |
A |
T |
12: 108,501,096 (GRCm39) |
|
probably benign |
Het |
| Espnl |
A |
T |
1: 91,262,443 (GRCm39) |
D296V |
probably damaging |
Het |
| Fam161a |
T |
G |
11: 22,970,798 (GRCm39) |
S109R |
possibly damaging |
Het |
| Fat3 |
T |
G |
9: 16,158,074 (GRCm39) |
T1179P |
possibly damaging |
Het |
| Gfra1 |
A |
T |
19: 58,255,456 (GRCm39) |
N330K |
probably benign |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Gm20775 |
A |
T |
Y: 10,641,648 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5885 |
T |
A |
6: 133,508,152 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch11 |
T |
C |
17: 79,148,446 (GRCm39) |
L128P |
probably damaging |
Het |
| H2-Q1 |
A |
G |
17: 35,539,919 (GRCm39) |
N63D |
possibly damaging |
Het |
| Itgb2 |
A |
T |
10: 77,392,001 (GRCm39) |
N358I |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,080,588 (GRCm39) |
T2247A |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,361,720 (GRCm39) |
K1036I |
probably damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Lrch1 |
G |
T |
14: 75,056,018 (GRCm39) |
S278R |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,262,526 (GRCm39) |
|
probably null |
Het |
| Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Mpzl1 |
G |
A |
1: 165,433,376 (GRCm39) |
Q36* |
probably null |
Het |
| Msantd5 |
A |
G |
11: 51,125,646 (GRCm39) |
N190D |
possibly damaging |
Het |
| Npr2 |
T |
C |
4: 43,646,592 (GRCm39) |
S647P |
probably damaging |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,705,396 (GRCm39) |
C644S |
probably damaging |
Het |
| Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
| Paqr3 |
T |
C |
5: 97,247,455 (GRCm39) |
T218A |
probably benign |
Het |
| Pcdh7 |
C |
T |
5: 57,879,361 (GRCm39) |
S972L |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Ralb |
A |
G |
1: 119,411,282 (GRCm39) |
M19T |
probably benign |
Het |
| Rcan1 |
A |
G |
16: 92,190,384 (GRCm39) |
I185T |
probably benign |
Het |
| Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
| Rock1 |
T |
A |
18: 10,079,237 (GRCm39) |
Q1077L |
probably damaging |
Het |
| Sesn3 |
C |
T |
9: 14,231,669 (GRCm39) |
A200V |
probably damaging |
Het |
| Shh |
T |
C |
5: 28,663,187 (GRCm39) |
E327G |
probably benign |
Het |
| Shmt2 |
G |
A |
10: 127,354,686 (GRCm39) |
A333V |
probably damaging |
Het |
| Slc15a2 |
T |
A |
16: 36,592,390 (GRCm39) |
I256F |
probably benign |
Het |
| Sptbn5 |
T |
C |
2: 119,913,680 (GRCm39) |
|
noncoding transcript |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Taf10 |
A |
G |
7: 105,392,614 (GRCm39) |
|
probably benign |
Het |
| Tas2r139 |
T |
A |
6: 42,118,689 (GRCm39) |
W274R |
probably damaging |
Het |
| Tbc1d20 |
T |
A |
2: 152,150,114 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,089,429 (GRCm39) |
S584P |
probably damaging |
Het |
| Tcstv1a |
T |
C |
13: 120,355,407 (GRCm39) |
D75G |
probably damaging |
Het |
| Tex10 |
T |
G |
4: 48,452,039 (GRCm39) |
T696P |
possibly damaging |
Het |
| Tgfbr1 |
T |
C |
4: 47,402,863 (GRCm39) |
F206S |
probably damaging |
Het |
| Tmem241 |
A |
T |
18: 12,246,496 (GRCm39) |
H51Q |
probably benign |
Het |
| Trim5 |
A |
T |
7: 103,926,015 (GRCm39) |
V182D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Txnl1 |
A |
G |
18: 63,804,750 (GRCm39) |
V248A |
possibly damaging |
Het |
| Ubr5 |
A |
G |
15: 38,041,817 (GRCm39) |
V204A |
probably benign |
Het |
| Ugp2 |
C |
T |
11: 21,279,026 (GRCm39) |
V387I |
probably damaging |
Het |
| Unc45b |
G |
A |
11: 82,804,035 (GRCm39) |
D71N |
probably damaging |
Het |
| Usp34 |
A |
T |
11: 23,270,727 (GRCm39) |
Y37F |
possibly damaging |
Het |
| Zfp943 |
A |
T |
17: 22,212,104 (GRCm39) |
I397F |
probably damaging |
Het |
|
| Other mutations in Ano3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Ano3
|
APN |
2 |
110,601,395 (GRCm39) |
splice site |
probably benign |
|
|
IGL01066:Ano3
|
APN |
2 |
110,491,790 (GRCm39) |
missense |
probably null |
0.00 |
|
IGL01696:Ano3
|
APN |
2 |
110,498,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01729:Ano3
|
APN |
2 |
110,611,739 (GRCm39) |
splice site |
probably null |
|
|
IGL01785:Ano3
|
APN |
2 |
110,513,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01786:Ano3
|
APN |
2 |
110,513,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01992:Ano3
|
APN |
2 |
110,488,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02098:Ano3
|
APN |
2 |
110,496,786 (GRCm39) |
nonsense |
probably null |
|
|
IGL02333:Ano3
|
APN |
2 |
110,527,544 (GRCm39) |
splice site |
probably benign |
|
|
IGL02346:Ano3
|
APN |
2 |
110,601,271 (GRCm39) |
splice site |
probably benign |
|
|
IGL02352:Ano3
|
APN |
2 |
110,715,288 (GRCm39) |
nonsense |
probably null |
|
|
IGL02359:Ano3
|
APN |
2 |
110,715,288 (GRCm39) |
nonsense |
probably null |
|
|
IGL02544:Ano3
|
APN |
2 |
110,488,594 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02750:Ano3
|
APN |
2 |
110,496,329 (GRCm39) |
splice site |
probably benign |
|
|
IGL02861:Ano3
|
APN |
2 |
110,569,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02948:Ano3
|
APN |
2 |
110,527,363 (GRCm39) |
splice site |
probably benign |
|
|
IGL03327:Ano3
|
APN |
2 |
110,527,523 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
3-1:Ano3
|
UTSW |
2 |
110,527,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Ano3
|
UTSW |
2 |
110,605,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03147:Ano3
|
UTSW |
2 |
110,527,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0349:Ano3
|
UTSW |
2 |
110,491,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Ano3
|
UTSW |
2 |
110,491,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Ano3
|
UTSW |
2 |
110,715,200 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0557:Ano3
|
UTSW |
2 |
110,693,297 (GRCm39) |
splice site |
probably null |
|
|
R0611:Ano3
|
UTSW |
2 |
110,715,346 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0891:Ano3
|
UTSW |
2 |
110,528,321 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1459:Ano3
|
UTSW |
2 |
110,711,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1460:Ano3
|
UTSW |
2 |
110,513,103 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1773:Ano3
|
UTSW |
2 |
110,591,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Ano3
|
UTSW |
2 |
110,715,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1919:Ano3
|
UTSW |
2 |
110,715,352 (GRCm39) |
missense |
probably benign |
|
|
R2185:Ano3
|
UTSW |
2 |
110,605,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2280:Ano3
|
UTSW |
2 |
110,513,104 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2281:Ano3
|
UTSW |
2 |
110,513,104 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2348:Ano3
|
UTSW |
2 |
110,614,088 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2425:Ano3
|
UTSW |
2 |
110,693,188 (GRCm39) |
missense |
probably benign |
|
|
R2697:Ano3
|
UTSW |
2 |
110,625,305 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3888:Ano3
|
UTSW |
2 |
110,715,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3923:Ano3
|
UTSW |
2 |
110,601,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4447:Ano3
|
UTSW |
2 |
110,591,923 (GRCm39) |
splice site |
probably null |
|
|
R4790:Ano3
|
UTSW |
2 |
110,715,264 (GRCm39) |
missense |
probably benign |
|
|
R4832:Ano3
|
UTSW |
2 |
110,498,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Ano3
|
UTSW |
2 |
110,601,365 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5113:Ano3
|
UTSW |
2 |
110,491,825 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5486:Ano3
|
UTSW |
2 |
110,576,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Ano3
|
UTSW |
2 |
110,527,448 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5589:Ano3
|
UTSW |
2 |
110,715,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5627:Ano3
|
UTSW |
2 |
110,587,298 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5741:Ano3
|
UTSW |
2 |
110,488,618 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5767:Ano3
|
UTSW |
2 |
110,491,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5883:Ano3
|
UTSW |
2 |
110,711,209 (GRCm39) |
missense |
probably null |
0.15 |
|
R5899:Ano3
|
UTSW |
2 |
110,693,232 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5916:Ano3
|
UTSW |
2 |
110,512,181 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6158:Ano3
|
UTSW |
2 |
110,496,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6315:Ano3
|
UTSW |
2 |
110,527,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6401:Ano3
|
UTSW |
2 |
110,605,459 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6481:Ano3
|
UTSW |
2 |
110,625,372 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6482:Ano3
|
UTSW |
2 |
110,527,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6587:Ano3
|
UTSW |
2 |
110,628,249 (GRCm39) |
splice site |
probably null |
|
|
R6811:Ano3
|
UTSW |
2 |
110,711,212 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7048:Ano3
|
UTSW |
2 |
110,513,116 (GRCm39) |
nonsense |
probably null |
|
|
R7145:Ano3
|
UTSW |
2 |
110,693,205 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7207:Ano3
|
UTSW |
2 |
110,611,768 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7215:Ano3
|
UTSW |
2 |
110,496,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:Ano3
|
UTSW |
2 |
110,587,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7371:Ano3
|
UTSW |
2 |
110,715,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7568:Ano3
|
UTSW |
2 |
110,780,638 (GRCm39) |
start gained |
probably benign |
|
|
R7636:Ano3
|
UTSW |
2 |
110,513,048 (GRCm39) |
nonsense |
probably null |
|
|
R7888:Ano3
|
UTSW |
2 |
110,496,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7992:Ano3
|
UTSW |
2 |
110,605,367 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8024:Ano3
|
UTSW |
2 |
110,498,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8074:Ano3
|
UTSW |
2 |
110,780,577 (GRCm39) |
start gained |
probably benign |
|
|
R8111:Ano3
|
UTSW |
2 |
110,614,058 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8177:Ano3
|
UTSW |
2 |
110,496,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8297:Ano3
|
UTSW |
2 |
110,491,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8485:Ano3
|
UTSW |
2 |
110,498,200 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8509:Ano3
|
UTSW |
2 |
110,496,180 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8870:Ano3
|
UTSW |
2 |
110,614,074 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9071:Ano3
|
UTSW |
2 |
110,625,418 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9072:Ano3
|
UTSW |
2 |
110,576,243 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9073:Ano3
|
UTSW |
2 |
110,576,243 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9315:Ano3
|
UTSW |
2 |
110,528,287 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9376:Ano3
|
UTSW |
2 |
110,496,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Ano3
|
UTSW |
2 |
110,528,342 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9697:Ano3
|
UTSW |
2 |
110,496,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9716:Ano3
|
UTSW |
2 |
110,601,376 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9748:Ano3
|
UTSW |
2 |
110,488,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF012:Ano3
|
UTSW |
2 |
110,527,868 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
RF013:Ano3
|
UTSW |
2 |
110,527,381 (GRCm39) |
missense |
probably benign |
0.30 |
|
X0058:Ano3
|
UTSW |
2 |
110,527,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ano3
|
UTSW |
2 |
110,576,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGGTAACTTTTCACTGTCTAAC -3'
(R):5'- TGTGTATCATGAGAGATCATGGATC -3'
Sequencing Primer
(F):5'- TATGGTGGCTGCCACTC -3'
(R):5'- CATGAGAGATCATGGATCAAAATGTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation