Incidental Mutation 'R3970:Ano1'
| ID |
310920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| MMRRC Submission |
040938-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
144588549-144751974 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144607963 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 749
(N749D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033393]
[ENSMUST00000118556]
[ENSMUST00000121758]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033393
AA Change: N688D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: N688D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
Pfam:Anoctamin
|
320 |
898 |
1.3e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118556
AA Change: N746D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: N746D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoct_dimer
|
112 |
375 |
5.5e-83 |
PFAM |
|
Pfam:Anoctamin
|
378 |
955 |
6.7e-140 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121758
AA Change: N749D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: N749D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoct_dimer
|
54 |
317 |
7.1e-83 |
PFAM |
|
Pfam:Anoctamin
|
320 |
901 |
2.2e-139 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131571
|
| Meta Mutation Damage Score |
0.0717 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knockout allele exhibit postnatal death associated with aerophagia, slow postnatal weight gain, cyanosis, and abnormal tracheal morphology. Mice homozygous for a different knock-out allele exhibit proteinuria and intracellular endosomal vesicles in PTE cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 147,945,322 (GRCm38) |
M583T |
probably damaging |
Het |
| Actn4 |
T |
C |
7: 28,962,032 (GRCm38) |
K51R |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,910,602 (GRCm38) |
Y513C |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,569,951 (GRCm38) |
L34* |
probably null |
Het |
| Akap6 |
A |
T |
12: 53,141,453 (GRCm38) |
K1883N |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 134,749,756 (GRCm38) |
H109N |
possibly damaging |
Het |
| Camk4 |
T |
A |
18: 33,179,581 (GRCm38) |
I258N |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,726,458 (GRCm38) |
N781I |
probably damaging |
Het |
| Cherp |
T |
C |
8: 72,469,951 (GRCm38) |
H196R |
possibly damaging |
Het |
| Chia1 |
T |
G |
3: 106,121,635 (GRCm38) |
|
probably null |
Het |
| Col11a1 |
A |
T |
3: 114,097,189 (GRCm38) |
T392S |
unknown |
Het |
| Commd9 |
C |
A |
2: 101,897,141 (GRCm38) |
N93K |
probably benign |
Het |
| Csf2rb |
T |
C |
15: 78,341,467 (GRCm38) |
V286A |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 118,041,158 (GRCm38) |
|
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,564,022 (GRCm38) |
G144R |
probably damaging |
Het |
| Fam196b |
A |
T |
11: 34,419,739 (GRCm38) |
Q481L |
probably damaging |
Het |
| Fcho2 |
A |
T |
13: 98,735,056 (GRCm38) |
S551T |
probably benign |
Het |
| Flna |
A |
T |
X: 74,235,667 (GRCm38) |
V1253E |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,907,345 (GRCm38) |
C774S |
probably benign |
Het |
| Gm14401 |
T |
C |
2: 177,086,996 (GRCm38) |
Y292H |
possibly damaging |
Het |
| Kif5c |
A |
G |
2: 49,688,744 (GRCm38) |
E128G |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,580,341 (GRCm38) |
K3230M |
probably damaging |
Het |
| Myof |
T |
G |
19: 38,022,610 (GRCm38) |
D60A |
possibly damaging |
Het |
| Myof |
C |
T |
19: 37,901,263 (GRCm38) |
V1287M |
probably damaging |
Het |
| Myrf |
A |
G |
19: 10,223,237 (GRCm38) |
L332P |
probably damaging |
Het |
| Nampt |
T |
A |
12: 32,833,096 (GRCm38) |
D93E |
probably benign |
Het |
| Narf |
A |
T |
11: 121,238,421 (GRCm38) |
E10D |
possibly damaging |
Het |
| Nlrp6 |
C |
A |
7: 140,921,655 (GRCm38) |
A45E |
probably damaging |
Het |
| Obscn |
G |
A |
11: 59,051,662 (GRCm38) |
P4898L |
probably damaging |
Het |
| Olfr251 |
T |
C |
9: 38,377,926 (GRCm38) |
V15A |
probably damaging |
Het |
| Pabpc5 |
A |
G |
X: 119,928,624 (GRCm38) |
E212G |
probably benign |
Het |
| Pcdh8 |
C |
T |
14: 79,770,266 (GRCm38) |
G286S |
possibly damaging |
Het |
| Pcdha2 |
C |
A |
18: 36,940,697 (GRCm38) |
Y460* |
probably null |
Het |
| Pcdhga4 |
G |
T |
18: 37,687,601 (GRCm38) |
L734F |
possibly damaging |
Het |
| Pecr |
G |
A |
1: 72,276,309 (GRCm38) |
T94I |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,011,696 (GRCm38) |
V2776E |
probably damaging |
Het |
| Pign |
A |
C |
1: 105,656,003 (GRCm38) |
S125A |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 70,770,421 (GRCm38) |
R452C |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,874,218 (GRCm38) |
E1566K |
probably damaging |
Het |
| Plcb2 |
A |
G |
2: 118,715,690 (GRCm38) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 5,100,332 (GRCm38) |
|
probably null |
Het |
| Pramel4 |
A |
T |
4: 144,068,474 (GRCm38) |
N477I |
possibly damaging |
Het |
| Psd |
C |
T |
19: 46,324,406 (GRCm38) |
R175H |
probably benign |
Het |
| Sema3g |
T |
C |
14: 31,226,521 (GRCm38) |
|
probably null |
Het |
| Sf3b1 |
G |
A |
1: 55,012,182 (GRCm38) |
R196* |
probably null |
Het |
| Slc26a4 |
G |
T |
12: 31,528,687 (GRCm38) |
H656N |
probably damaging |
Het |
| Slc6a7 |
A |
C |
18: 61,003,345 (GRCm38) |
L328R |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,878,886 (GRCm38) |
T139A |
probably damaging |
Het |
| Tiam2 |
T |
A |
17: 3,428,831 (GRCm38) |
I613N |
probably damaging |
Het |
| Tlk1 |
A |
G |
2: 70,716,652 (GRCm38) |
V695A |
probably damaging |
Het |
| Trpc2 |
A |
G |
7: 102,084,324 (GRCm38) |
D160G |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,079,915 (GRCm38) |
V491A |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,017,708 (GRCm38) |
A84T |
probably damaging |
Het |
| Zfp219 |
T |
A |
14: 52,006,964 (GRCm38) |
Q541L |
probably benign |
Het |
|
| Other mutations in Ano1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Ano1
|
APN |
7 |
144,638,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00754:Ano1
|
APN |
7 |
144,597,231 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL00780:Ano1
|
APN |
7 |
144,655,630 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00918:Ano1
|
APN |
7 |
144,644,752 (GRCm38) |
splice site |
probably benign |
|
|
IGL01112:Ano1
|
APN |
7 |
144,637,145 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL01285:Ano1
|
APN |
7 |
144,644,742 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01285:Ano1
|
APN |
7 |
144,595,538 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01308:Ano1
|
APN |
7 |
144,595,498 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01407:Ano1
|
APN |
7 |
144,637,111 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL01672:Ano1
|
APN |
7 |
144,655,675 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01920:Ano1
|
APN |
7 |
144,611,454 (GRCm38) |
splice site |
probably benign |
|
|
IGL01926:Ano1
|
APN |
7 |
144,610,875 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02164:Ano1
|
APN |
7 |
144,637,181 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02190:Ano1
|
APN |
7 |
144,618,883 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL02214:Ano1
|
APN |
7 |
144,655,708 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL02299:Ano1
|
APN |
7 |
144,590,075 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL02567:Ano1
|
APN |
7 |
144,611,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03131:Ano1
|
APN |
7 |
144,603,585 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL03291:Ano1
|
APN |
7 |
144,621,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03299:Ano1
|
APN |
7 |
144,654,256 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03394:Ano1
|
APN |
7 |
144,595,439 (GRCm38) |
splice site |
probably null |
|
|
PIT4434001:Ano1
|
UTSW |
7 |
144,610,895 (GRCm38) |
missense |
probably benign |
0.28 |
|
R0502:Ano1
|
UTSW |
7 |
144,597,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0595:Ano1
|
UTSW |
7 |
144,590,153 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0732:Ano1
|
UTSW |
7 |
144,619,488 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0970:Ano1
|
UTSW |
7 |
144,595,571 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0988:Ano1
|
UTSW |
7 |
144,633,653 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1074:Ano1
|
UTSW |
7 |
144,611,680 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1301:Ano1
|
UTSW |
7 |
144,633,689 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1528:Ano1
|
UTSW |
7 |
144,595,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2018:Ano1
|
UTSW |
7 |
144,654,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2056:Ano1
|
UTSW |
7 |
144,648,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2057:Ano1
|
UTSW |
7 |
144,648,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2058:Ano1
|
UTSW |
7 |
144,648,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2059:Ano1
|
UTSW |
7 |
144,611,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2860:Ano1
|
UTSW |
7 |
144,590,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2861:Ano1
|
UTSW |
7 |
144,590,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3770:Ano1
|
UTSW |
7 |
144,595,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4179:Ano1
|
UTSW |
7 |
144,650,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4489:Ano1
|
UTSW |
7 |
144,611,742 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4678:Ano1
|
UTSW |
7 |
144,669,552 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4915:Ano1
|
UTSW |
7 |
144,611,375 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R5114:Ano1
|
UTSW |
7 |
144,657,083 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5362:Ano1
|
UTSW |
7 |
144,648,600 (GRCm38) |
unclassified |
probably benign |
|
|
R5364:Ano1
|
UTSW |
7 |
144,637,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5366:Ano1
|
UTSW |
7 |
144,654,209 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R5387:Ano1
|
UTSW |
7 |
144,648,619 (GRCm38) |
missense |
probably benign |
|
|
R5762:Ano1
|
UTSW |
7 |
144,648,037 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5857:Ano1
|
UTSW |
7 |
144,637,103 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6091:Ano1
|
UTSW |
7 |
144,669,434 (GRCm38) |
missense |
probably benign |
0.12 |
|
R6093:Ano1
|
UTSW |
7 |
144,611,377 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R6177:Ano1
|
UTSW |
7 |
144,678,741 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6246:Ano1
|
UTSW |
7 |
144,633,725 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6274:Ano1
|
UTSW |
7 |
144,618,863 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6323:Ano1
|
UTSW |
7 |
144,611,686 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6574:Ano1
|
UTSW |
7 |
144,607,916 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6782:Ano1
|
UTSW |
7 |
144,621,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6880:Ano1
|
UTSW |
7 |
144,644,742 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6909:Ano1
|
UTSW |
7 |
144,655,731 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7066:Ano1
|
UTSW |
7 |
144,637,086 (GRCm38) |
missense |
probably benign |
0.35 |
|
R7073:Ano1
|
UTSW |
7 |
144,638,552 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7146:Ano1
|
UTSW |
7 |
144,655,656 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7420:Ano1
|
UTSW |
7 |
144,655,641 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7874:Ano1
|
UTSW |
7 |
144,621,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8468:Ano1
|
UTSW |
7 |
144,655,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8867:Ano1
|
UTSW |
7 |
144,669,660 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R8923:Ano1
|
UTSW |
7 |
144,650,551 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9215:Ano1
|
UTSW |
7 |
144,595,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9281:Ano1
|
UTSW |
7 |
144,595,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9572:Ano1
|
UTSW |
7 |
144,650,556 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9668:Ano1
|
UTSW |
7 |
144,610,842 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9681:Ano1
|
UTSW |
7 |
144,590,156 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R9756:Ano1
|
UTSW |
7 |
144,608,929 (GRCm38) |
missense |
probably benign |
0.45 |
|
R9780:Ano1
|
UTSW |
7 |
144,655,621 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9792:Ano1
|
UTSW |
7 |
144,621,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9793:Ano1
|
UTSW |
7 |
144,621,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9795:Ano1
|
UTSW |
7 |
144,621,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTCTAATGTGGTAGCCTGTTTCC -3'
(R):5'- TAGCAGTGGTCCAGGCTTAG -3'
Sequencing Primer
(F):5'- ACTGGCTTGGCACTCATCAAG -3'
(R):5'- TCCAGGCTTAGGGCAGACAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation