Incidental Mutation 'R1301:Ano1'
| ID |
158372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| MMRRC Submission |
039367-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1301 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
144588549-144751974 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144633689 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 447
(W447R)
|
| 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 benign
Transcript: ENSMUST00000033393
AA Change: W389R
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: W389R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
Pfam:Anoctamin
|
320 |
898 |
1.3e-149 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118556
AA Change: W447R
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: W447R
| 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: W446R
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: W446R
| 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 |
unknown
Transcript: ENSMUST00000152531
AA Change: W276R
|
| SMART Domains |
Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: W276R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoct_dimer
|
2 |
205 |
4.4e-64 |
PFAM |
|
Pfam:Anoctamin
|
208 |
335 |
3e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208985
|
| Meta Mutation Damage Score |
0.8848 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.3%
- 20x: 82.6%
|
| Validation Efficiency |
96% (67/70) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Blm |
T |
A |
7: 80,455,417 (GRCm38) |
K103* |
probably null |
Het |
| Camta2 |
A |
G |
11: 70,676,404 (GRCm38) |
I675T |
probably benign |
Het |
| Catsperz |
G |
A |
19: 6,925,082 (GRCm38) |
R15C |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,603,648 (GRCm38) |
|
probably benign |
Het |
| Corin |
C |
A |
5: 72,304,933 (GRCm38) |
E844D |
possibly damaging |
Het |
| Cyb5rl |
T |
G |
4: 107,080,907 (GRCm38) |
M127R |
probably damaging |
Het |
| Dcdc2a |
A |
T |
13: 25,102,586 (GRCm38) |
N164I |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 73,208,545 (GRCm38) |
|
probably null |
Het |
| Emilin2 |
T |
C |
17: 71,255,965 (GRCm38) |
|
probably benign |
Het |
| Epb41l2 |
T |
A |
10: 25,443,902 (GRCm38) |
V211D |
probably damaging |
Het |
| Fbxo47 |
C |
T |
11: 97,868,601 (GRCm38) |
M166I |
probably benign |
Het |
| Gm13124 |
T |
A |
4: 144,565,065 (GRCm38) |
I24L |
probably benign |
Het |
| Gm4450 |
G |
A |
3: 98,446,866 (GRCm38) |
Q106* |
probably null |
Het |
| Golm1 |
T |
C |
13: 59,638,373 (GRCm38) |
D335G |
probably damaging |
Het |
| Gpn1 |
T |
A |
5: 31,503,429 (GRCm38) |
M188K |
probably damaging |
Het |
| Gpr84 |
T |
A |
15: 103,309,219 (GRCm38) |
S144C |
probably damaging |
Het |
| Grm8 |
G |
T |
6: 27,981,201 (GRCm38) |
Q237K |
possibly damaging |
Het |
| Gsdmd |
C |
A |
15: 75,867,059 (GRCm38) |
|
probably null |
Het |
| Hmgcr |
G |
A |
13: 96,659,020 (GRCm38) |
T347I |
probably damaging |
Het |
| Hsd17b7 |
T |
A |
1: 169,961,205 (GRCm38) |
|
probably benign |
Het |
| Klhl7 |
T |
G |
5: 24,159,491 (GRCm38) |
W508G |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,428,604 (GRCm38) |
D4581Y |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 158,135,331 (GRCm38) |
N1357D |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,486,658 (GRCm38) |
|
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,720,495 (GRCm38) |
T329A |
probably damaging |
Het |
| Mroh9 |
C |
T |
1: 163,043,983 (GRCm38) |
|
probably null |
Het |
| Mta2 |
A |
G |
19: 8,949,186 (GRCm38) |
|
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,267,095 (GRCm38) |
|
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,407,389 (GRCm38) |
D153G |
probably benign |
Het |
| Nup133 |
T |
C |
8: 123,917,417 (GRCm38) |
|
probably benign |
Het |
| Nup210 |
C |
T |
6: 91,042,347 (GRCm38) |
V259M |
possibly damaging |
Het |
| Olfr1338 |
C |
T |
4: 118,753,619 (GRCm38) |
M308I |
probably benign |
Het |
| Olfr1466 |
A |
T |
19: 13,341,847 (GRCm38) |
I30F |
probably benign |
Het |
| Olfr1499 |
A |
T |
19: 13,815,362 (GRCm38) |
V76D |
probably damaging |
Het |
| Otog |
C |
T |
7: 46,289,689 (GRCm38) |
R2048C |
probably damaging |
Het |
| Paqr7 |
T |
C |
4: 134,507,813 (GRCm38) |
L327P |
probably damaging |
Het |
| Parl |
A |
G |
16: 20,286,926 (GRCm38) |
S249P |
probably damaging |
Het |
| Phc1 |
A |
G |
6: 122,325,874 (GRCm38) |
I230T |
probably benign |
Het |
| Pitpnm1 |
T |
G |
19: 4,110,831 (GRCm38) |
|
probably null |
Het |
| Plpp1 |
A |
G |
13: 112,834,943 (GRCm38) |
Y48C |
probably damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,628,887 (GRCm38) |
F194L |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,345,936 (GRCm38) |
V1651D |
possibly damaging |
Het |
| Serpinb1c |
T |
A |
13: 32,896,960 (GRCm38) |
R47* |
probably null |
Het |
| Sis |
T |
C |
3: 72,946,582 (GRCm38) |
T521A |
possibly damaging |
Het |
| Slc16a9 |
A |
G |
10: 70,282,478 (GRCm38) |
D209G |
probably benign |
Het |
| Slc26a4 |
A |
T |
12: 31,525,568 (GRCm38) |
C706* |
probably null |
Het |
| Slc37a2 |
A |
G |
9: 37,236,881 (GRCm38) |
V325A |
probably benign |
Het |
| Speg |
T |
A |
1: 75,401,501 (GRCm38) |
D784E |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,920,622 (GRCm38) |
I270V |
probably benign |
Het |
| Tatdn2 |
T |
A |
6: 113,704,115 (GRCm38) |
F309I |
probably damaging |
Het |
| Tmem206 |
T |
C |
1: 191,348,435 (GRCm38) |
V284A |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,089,400 (GRCm38) |
|
probably benign |
Het |
| Trpm1 |
T |
A |
7: 64,203,053 (GRCm38) |
|
probably null |
Het |
| Wrn |
T |
C |
8: 33,292,686 (GRCm38) |
R496G |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,063,397 (GRCm38) |
V2299A |
probably benign |
Het |
| Zfp819 |
T |
A |
7: 43,617,100 (GRCm38) |
S260T |
possibly damaging |
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 |
|
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 |
|
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'- GCTCATCTGGGATTCAGTGCAGAC -3'
(R):5'- ATACACCTATGACTGCCAGGGACG -3'
Sequencing Primer
(F):5'- GGCCATCAGGTACACTATGTGAC -3'
(R):5'- GGACGCCCTCCATTGAC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation