Incidental Mutation 'R7145:Ano3'
| ID |
553690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano3
|
| Ensembl Gene |
ENSMUSG00000074968 |
| Gene Name |
anoctamin 3 |
| Synonyms |
B230324K02Rik, Tmem16c |
| MMRRC Submission |
045223-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R7145 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
110485546-110780854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110693205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 131
(V131D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099623]
|
| AlphaFold |
A2AHL1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099623
AA Change: V131D
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: V131D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoct_dimer
|
156 |
381 |
2.9e-70 |
PFAM |
|
Pfam:Anoctamin
|
384 |
950 |
4.4e-138 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,775,820 (GRCm39) |
Y1670H |
probably damaging |
Het |
| Abca12 |
T |
C |
1: 71,346,212 (GRCm39) |
K886R |
possibly damaging |
Het |
| Adcy3 |
G |
A |
12: 4,250,992 (GRCm39) |
E584K |
probably benign |
Het |
| Arhgdig |
C |
T |
17: 26,418,337 (GRCm39) |
W215* |
probably null |
Het |
| Cad |
G |
T |
5: 31,224,956 (GRCm39) |
W953L |
possibly damaging |
Het |
| Calhm2 |
T |
C |
19: 47,124,080 (GRCm39) |
Y88C |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,156,468 (GRCm39) |
D1681E |
probably benign |
Het |
| Cenpl |
T |
A |
1: 160,910,482 (GRCm39) |
L143H |
possibly damaging |
Het |
| Cherp |
T |
C |
8: 73,222,230 (GRCm39) |
K270E |
|
Het |
| Cmss1 |
A |
G |
16: 57,131,718 (GRCm39) |
I136T |
probably benign |
Het |
| Col23a1 |
T |
C |
11: 51,456,050 (GRCm39) |
|
probably null |
Het |
| Crnn |
C |
A |
3: 93,055,689 (GRCm39) |
D158E |
probably damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,922,844 (GRCm39) |
Q149L |
probably benign |
Het |
| Dst |
T |
A |
1: 34,228,963 (GRCm39) |
N2185K |
probably benign |
Het |
| Eif1ad18 |
G |
T |
12: 88,050,597 (GRCm39) |
C44F |
probably benign |
Het |
| Elp2 |
T |
A |
18: 24,737,126 (GRCm39) |
N25K |
probably benign |
Het |
| Ephb4 |
A |
T |
5: 137,370,308 (GRCm39) |
D845V |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,201,627 (GRCm39) |
T561A |
probably damaging |
Het |
| F3 |
G |
T |
3: 121,525,235 (GRCm39) |
V159L |
probably damaging |
Het |
| Fam81a |
A |
T |
9: 70,017,560 (GRCm39) |
D128E |
probably damaging |
Het |
| Flot1 |
T |
G |
17: 36,135,835 (GRCm39) |
H155Q |
probably benign |
Het |
| Fut9 |
T |
A |
4: 25,620,507 (GRCm39) |
K102N |
probably damaging |
Het |
| Gm6309 |
T |
C |
5: 146,107,100 (GRCm39) |
Q82R |
possibly damaging |
Het |
| H13 |
A |
G |
2: 152,522,992 (GRCm39) |
N102D |
probably damaging |
Het |
| Lamc2 |
C |
G |
1: 153,006,518 (GRCm39) |
A878P |
possibly damaging |
Het |
| Lepr |
C |
T |
4: 101,609,394 (GRCm39) |
T327I |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,285,152 (GRCm39) |
|
probably null |
Het |
| Ly86 |
A |
G |
13: 37,560,986 (GRCm39) |
K116E |
probably damaging |
Het |
| Mapk8ip2 |
T |
A |
15: 89,343,201 (GRCm39) |
F648I |
possibly damaging |
Het |
| Muc16 |
G |
A |
9: 18,566,876 (GRCm39) |
T1881I |
unknown |
Het |
| Myh13 |
T |
G |
11: 67,245,566 (GRCm39) |
S1069A |
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,151,054 (GRCm39) |
I1903N |
possibly damaging |
Het |
| Myo18b |
A |
T |
5: 112,965,545 (GRCm39) |
L1341* |
probably null |
Het |
| Naa25 |
G |
T |
5: 121,555,552 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Ncapg |
C |
T |
5: 45,827,372 (GRCm39) |
A3V |
possibly damaging |
Het |
| Ncln |
T |
C |
10: 81,324,086 (GRCm39) |
H481R |
probably benign |
Het |
| Nek4 |
C |
A |
14: 30,704,305 (GRCm39) |
Q607K |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,796,462 (GRCm39) |
Y1182C |
probably damaging |
Het |
| Npnt |
T |
C |
3: 132,615,692 (GRCm39) |
N165S |
probably benign |
Het |
| Or2l5 |
C |
G |
16: 19,333,649 (GRCm39) |
V246L |
probably damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,721 (GRCm39) |
S215L |
probably damaging |
Het |
| Or8b8 |
A |
G |
9: 37,808,859 (GRCm39) |
H53R |
probably benign |
Het |
| Or8k30 |
T |
C |
2: 86,338,872 (GRCm39) |
L23P |
probably damaging |
Het |
| Otulin |
T |
C |
15: 27,608,856 (GRCm39) |
Y229C |
probably damaging |
Het |
| Palld |
A |
T |
8: 61,985,051 (GRCm39) |
D1071E |
unknown |
Het |
| Pcdhb20 |
T |
C |
18: 37,638,142 (GRCm39) |
S223P |
probably damaging |
Het |
| Pcdhga6 |
T |
A |
18: 37,840,781 (GRCm39) |
I167N |
probably damaging |
Het |
| Pcdhgb4 |
A |
G |
18: 37,854,843 (GRCm39) |
N413D |
probably benign |
Het |
| Pcdhgb8 |
T |
A |
18: 37,896,050 (GRCm39) |
Y373* |
probably null |
Het |
| Plxna2 |
G |
T |
1: 194,331,830 (GRCm39) |
V419L |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,959,434 (GRCm39) |
|
probably null |
Het |
| Rsrc2 |
A |
G |
5: 123,877,630 (GRCm39) |
|
probably benign |
Het |
| Scaper |
C |
T |
9: 55,819,395 (GRCm39) |
D107N |
unknown |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,573 (GRCm39) |
Y67F |
probably benign |
Het |
| Scn5a |
G |
A |
9: 119,315,437 (GRCm39) |
T1757I |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,381,218 (GRCm39) |
P538L |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,298,797 (GRCm39) |
K72R |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,685,202 (GRCm39) |
T1409S |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,867,030 (GRCm39) |
|
probably null |
Het |
| Sult2b1 |
T |
C |
7: 45,383,056 (GRCm39) |
E242G |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,663,687 (GRCm39) |
H64Q |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,435,910 (GRCm39) |
T2A |
possibly damaging |
Het |
| Tmem115 |
T |
C |
9: 107,412,285 (GRCm39) |
V203A |
probably benign |
Het |
| Tmem45b |
G |
A |
9: 31,340,337 (GRCm39) |
T108I |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,153,079 (GRCm39) |
D331E |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,029,377 (GRCm39) |
Y157C |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r27 |
C |
A |
6: 124,168,711 (GRCm39) |
R806S |
probably benign |
Het |
| Vmn2r59 |
G |
A |
7: 41,695,188 (GRCm39) |
A408V |
probably damaging |
Het |
| Ythdc1 |
T |
C |
5: 86,964,467 (GRCm39) |
V92A |
probably benign |
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 |
|
R4352:Ano3
|
UTSW |
2 |
110,576,239 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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 |
|
|
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'- TCAGTAAACAGCGACTCATGCTTG -3'
(R):5'- GGATGCCCACCTGATTCTTC -3'
Sequencing Primer
(F):5'- GTCTGGCCTTGAACTCAGAAATTCG -3'
(R):5'- TCTTCCTCAGTCCAGATTAGAAAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation