Incidental Mutation 'R2860:Ano1'
| ID |
252837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| MMRRC Submission |
040450-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2860 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
144588549-144751974 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 144590012 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 1011
(G1011E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033393]
[ENSMUST00000118556]
[ENSMUST00000121758]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033393
AA Change: G953E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: G953E
| 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 damaging
Transcript: ENSMUST00000118556
AA Change: G1011E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: G1011E
| 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 damaging
Transcript: ENSMUST00000121758
AA Change: G1014E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: G1014E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoct_dimer
|
54 |
317 |
7.1e-83 |
PFAM |
|
Pfam:Anoctamin
|
320 |
901 |
2.2e-139 |
PFAM |
|
| Meta Mutation Damage Score |
0.0936 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
100% (44/44) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438A13Rik |
G |
A |
3: 36,965,849 (GRCm38) |
S2079N |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,309,057 (GRCm38) |
S2928G |
probably damaging |
Het |
| Abcc9 |
C |
T |
6: 142,626,010 (GRCm38) |
V1131M |
probably benign |
Het |
| Abcd1 |
T |
A |
X: 73,737,458 (GRCm38) |
L713H |
probably damaging |
Het |
| Actg1 |
T |
C |
11: 120,346,801 (GRCm38) |
I52V |
probably benign |
Het |
| Ang |
G |
T |
14: 51,101,818 (GRCm38) |
D139Y |
probably damaging |
Het |
| Apoe |
T |
C |
7: 19,697,554 (GRCm38) |
Y46C |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 89,054,478 (GRCm38) |
W2386R |
probably damaging |
Het |
| Asph |
T |
C |
4: 9,598,277 (GRCm38) |
D250G |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,874,243 (GRCm38) |
N836S |
probably benign |
Het |
| Btg3 |
A |
G |
16: 78,364,980 (GRCm38) |
V114A |
probably damaging |
Het |
| C2 |
T |
C |
17: 34,863,878 (GRCm38) |
T471A |
possibly damaging |
Het |
| C4b |
T |
A |
17: 34,734,758 (GRCm38) |
S959C |
probably damaging |
Het |
| Cap1 |
A |
T |
4: 122,864,725 (GRCm38) |
S221T |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,472,920 (GRCm38) |
|
probably benign |
Het |
| Cd38 |
A |
G |
5: 43,901,433 (GRCm38) |
S130G |
probably damaging |
Het |
| Cd8b1 |
A |
G |
6: 71,334,101 (GRCm38) |
R202G |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,815,943 (GRCm38) |
|
probably null |
Het |
| Cps1 |
A |
T |
1: 67,166,375 (GRCm38) |
E519V |
probably benign |
Het |
| Cyp2c38 |
G |
A |
19: 39,460,694 (GRCm38) |
R72W |
probably benign |
Het |
| Cyp3a16 |
A |
T |
5: 145,455,499 (GRCm38) |
Y215* |
probably null |
Het |
| F5 |
A |
T |
1: 164,184,964 (GRCm38) |
K482N |
probably damaging |
Het |
| Fam212a |
T |
C |
9: 107,984,404 (GRCm38) |
T238A |
probably benign |
Het |
| Fam45a |
T |
C |
19: 60,814,794 (GRCm38) |
S80P |
probably benign |
Het |
| Gab1 |
T |
C |
8: 80,784,753 (GRCm38) |
M488V |
probably benign |
Het |
| Gabpb1 |
A |
G |
2: 126,653,574 (GRCm38) |
I86T |
probably damaging |
Het |
| Gbx2 |
C |
T |
1: 89,929,131 (GRCm38) |
R179Q |
probably damaging |
Het |
| Gm11938 |
C |
A |
11: 99,603,146 (GRCm38) |
R41L |
probably damaging |
Het |
| Gpn1 |
A |
G |
5: 31,497,320 (GRCm38) |
D72G |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,711,745 (GRCm38) |
S545P |
probably benign |
Het |
| Hsd3b7 |
T |
G |
7: 127,802,270 (GRCm38) |
L189R |
probably damaging |
Het |
| Iglc1 |
T |
C |
16: 19,061,910 (GRCm38) |
|
probably benign |
Het |
| Il18r1 |
T |
C |
1: 40,498,557 (GRCm38) |
V494A |
possibly damaging |
Het |
| Itsn2 |
C |
A |
12: 4,700,315 (GRCm38) |
|
probably benign |
Het |
| Kcnn1 |
T |
C |
8: 70,846,535 (GRCm38) |
K487R |
probably benign |
Het |
| Kdf1 |
G |
A |
4: 133,528,541 (GRCm38) |
E190K |
probably damaging |
Het |
| Lama3 |
G |
T |
18: 12,453,750 (GRCm38) |
L723F |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 180,187,247 (GRCm38) |
T2034A |
probably benign |
Het |
| Maged1 |
G |
A |
X: 94,538,924 (GRCm38) |
P366S |
probably damaging |
Het |
| Med14 |
A |
G |
X: 12,719,697 (GRCm38) |
I521T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,154,410 (GRCm38) |
K841E |
probably damaging |
Het |
| Mrgbp |
G |
A |
2: 180,583,410 (GRCm38) |
R53Q |
possibly damaging |
Het |
| Mum1l1 |
G |
A |
X: 139,236,680 (GRCm38) |
G656S |
possibly damaging |
Het |
| Nmnat2 |
G |
A |
1: 153,112,425 (GRCm38) |
V267I |
probably benign |
Het |
| Olfr1305 |
G |
T |
2: 111,873,473 (GRCm38) |
C127* |
probably null |
Het |
| Olfr231 |
A |
G |
1: 174,117,732 (GRCm38) |
Y95H |
probably damaging |
Het |
| Olfr490 |
A |
G |
7: 108,286,962 (GRCm38) |
S55P |
probably damaging |
Het |
| Olfr715b |
T |
A |
7: 107,106,468 (GRCm38) |
H131L |
probably benign |
Het |
| Opn4 |
A |
G |
14: 34,593,828 (GRCm38) |
|
probably null |
Het |
| Ovgp1 |
T |
C |
3: 105,986,567 (GRCm38) |
|
probably benign |
Het |
| Parp16 |
G |
T |
9: 65,233,804 (GRCm38) |
D219Y |
probably damaging |
Het |
| Pitpnm2 |
G |
C |
5: 124,121,437 (GRCm38) |
H1224Q |
probably damaging |
Het |
| Pkd1 |
C |
T |
17: 24,565,446 (GRCm38) |
T322I |
probably benign |
Het |
| Pkhd1l1 |
A |
C |
15: 44,540,871 (GRCm38) |
T2299P |
probably damaging |
Het |
| Plin4 |
T |
C |
17: 56,106,668 (GRCm38) |
D319G |
probably damaging |
Het |
| Ppp6r3 |
A |
C |
19: 3,521,782 (GRCm38) |
S122R |
possibly damaging |
Het |
| Pum3 |
A |
T |
19: 27,420,125 (GRCm38) |
|
probably benign |
Het |
| Rims1 |
A |
T |
1: 22,432,976 (GRCm38) |
F653I |
probably benign |
Het |
| Rnf113a1 |
A |
G |
X: 37,192,083 (GRCm38) |
E231G |
probably damaging |
Het |
| Rnf41 |
T |
C |
10: 128,438,154 (GRCm38) |
L225P |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,593,093 (GRCm38) |
E876G |
probably damaging |
Het |
| Slc25a10 |
G |
A |
11: 120,495,177 (GRCm38) |
V115M |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,138,117 (GRCm38) |
I798N |
probably benign |
Het |
| Sri |
A |
T |
5: 8,067,540 (GRCm38) |
Q178L |
probably benign |
Het |
| Tex14 |
T |
G |
11: 87,474,417 (GRCm38) |
D62E |
probably damaging |
Het |
| Tshz1 |
G |
T |
18: 84,014,980 (GRCm38) |
H434Q |
probably damaging |
Het |
| Vegfd |
A |
G |
X: 164,385,883 (GRCm38) |
E57G |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,603,115 (GRCm38) |
V258E |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 42,047,003 (GRCm38) |
I105T |
possibly damaging |
Het |
| Vmn2r6 |
G |
T |
3: 64,547,339 (GRCm38) |
T513N |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,750,836 (GRCm38) |
I335N |
probably damaging |
Het |
| Wiz |
G |
T |
17: 32,361,706 (GRCm38) |
T257K |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 120,019,815 (GRCm38) |
M1V |
probably null |
Het |
| Xirp1 |
A |
G |
9: 120,018,378 (GRCm38) |
S41P |
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 |
|
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 |
|
R3970:Ano1
|
UTSW |
7 |
144,607,963 (GRCm38) |
missense |
probably benign |
0.00 |
|
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'- CCCTGCATAATGGCCTTGTG -3'
(R):5'- GGTGATCCCTGATATCCCCAAAG -3'
Sequencing Primer
(F):5'- TGGCCTTGTGCAAAAATGAG -3'
(R):5'- CAGCAGATCCACAAAGAGAAGGTTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation