Incidental Mutation 'R7874:Ano1'
| ID |
608325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| MMRRC Submission |
045926-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7874 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
144142286-144305711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 144175461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 486
(R486W)
|
| 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 damaging
Transcript: ENSMUST00000033393
AA Change: R429W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: R429W
| 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: R487W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: R487W
| 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: R486W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: R486W
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: R316W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoct_dimer
|
2 |
205 |
4.4e-64 |
PFAM |
|
Pfam:Anoctamin
|
208 |
335 |
3e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (57/58) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008P02Rik |
C |
A |
3: 6,685,201 (GRCm39) |
K84N |
probably damaging |
Het |
| Aacs |
T |
C |
5: 125,583,271 (GRCm39) |
F276L |
possibly damaging |
Het |
| Aicda |
T |
A |
6: 122,538,908 (GRCm39) |
I179N |
probably damaging |
Het |
| Anks6 |
T |
A |
4: 47,049,275 (GRCm39) |
H210L |
unknown |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,600 (GRCm39) |
N536S |
possibly damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,704,095 (GRCm39) |
V341A |
probably benign |
Het |
| Btn1a1 |
T |
C |
13: 23,643,385 (GRCm39) |
T355A |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Ceacam19 |
A |
T |
7: 19,620,363 (GRCm39) |
D89E |
probably damaging |
Het |
| Cerkl |
T |
A |
2: 79,168,981 (GRCm39) |
R407S |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,667,224 (GRCm39) |
T389A |
probably benign |
Het |
| Dcn |
A |
G |
10: 97,346,056 (GRCm39) |
|
probably null |
Het |
| Defa39 |
C |
A |
8: 22,192,812 (GRCm39) |
R61S |
possibly damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,922,485 (GRCm39) |
Q558R |
possibly damaging |
Het |
| Dhx36 |
C |
A |
3: 62,396,052 (GRCm39) |
V452L |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,185,687 (GRCm39) |
V1906A |
probably damaging |
Het |
| Emc4 |
T |
C |
2: 112,194,178 (GRCm39) |
T159A |
probably damaging |
Het |
| Fstl5 |
C |
A |
3: 76,569,093 (GRCm39) |
P582Q |
probably benign |
Het |
| Izumo1r |
T |
A |
9: 14,811,875 (GRCm39) |
Y171F |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,879,566 (GRCm39) |
V401M |
probably damaging |
Het |
| Jph2 |
C |
T |
2: 163,217,762 (GRCm39) |
G305S |
probably damaging |
Het |
| Kbtbd13 |
C |
A |
9: 65,297,584 (GRCm39) |
V451L |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,409,077 (GRCm39) |
T813A |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,875,783 (GRCm39) |
L1295P |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,155,374 (GRCm39) |
D362E |
probably damaging |
Het |
| Mospd3 |
T |
C |
5: 137,598,290 (GRCm39) |
Y77C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Mup8 |
T |
A |
4: 60,222,420 (GRCm39) |
H17L |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Ndnf |
A |
T |
6: 65,680,413 (GRCm39) |
M231L |
probably benign |
Het |
| Obscn |
T |
G |
11: 59,024,102 (GRCm39) |
T523P |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,573 (GRCm39) |
V301A |
possibly damaging |
Het |
| P4htm |
G |
T |
9: 108,474,148 (GRCm39) |
A130E |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,863 (GRCm39) |
D439E |
probably benign |
Het |
| Phlpp1 |
A |
G |
1: 106,317,603 (GRCm39) |
I1275V |
probably benign |
Het |
| Poln |
A |
T |
5: 34,181,694 (GRCm39) |
I719N |
probably damaging |
Het |
| Ptch2 |
T |
A |
4: 116,963,161 (GRCm39) |
L216Q |
possibly damaging |
Het |
| Rarres2 |
T |
A |
6: 48,549,079 (GRCm39) |
K41N |
probably benign |
Het |
| Rasal3 |
C |
T |
17: 32,615,681 (GRCm39) |
E386K |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,698,491 (GRCm39) |
I996T |
possibly damaging |
Het |
| Rreb1 |
A |
G |
13: 38,131,100 (GRCm39) |
N36S |
probably damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,386,654 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
A |
G |
18: 78,203,983 (GRCm39) |
V526A |
probably benign |
Het |
| Slc45a4 |
T |
C |
15: 73,456,184 (GRCm39) |
|
probably null |
Het |
| Srrm2 |
G |
A |
17: 24,034,652 (GRCm39) |
R432H |
unknown |
Het |
| Th |
G |
A |
7: 142,449,308 (GRCm39) |
R266* |
probably null |
Het |
| Tln1 |
T |
C |
4: 43,538,041 (GRCm39) |
Y1853C |
probably damaging |
Het |
| Tln1 |
A |
T |
4: 43,555,606 (GRCm39) |
D169E |
probably damaging |
Het |
| Tmcc3 |
G |
A |
10: 94,386,889 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
G |
17: 34,930,417 (GRCm39) |
E2034G |
probably damaging |
Het |
| Top6bl |
C |
T |
19: 4,708,451 (GRCm39) |
C347Y |
probably damaging |
Het |
| Ttc4 |
T |
C |
4: 106,522,881 (GRCm39) |
T346A |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,453 (GRCm39) |
V842E |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,232,345 (GRCm39) |
N781K |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,817,978 (GRCm39) |
Y67N |
possibly damaging |
Het |
| Zfp273 |
A |
G |
13: 67,973,558 (GRCm39) |
T229A |
probably benign |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,773,217 (GRCm39) |
H1769R |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,750,479 (GRCm39) |
V929A |
probably benign |
Het |
|
| Other mutations in Ano1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Ano1
|
APN |
7 |
144,192,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00754:Ano1
|
APN |
7 |
144,150,968 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00780:Ano1
|
APN |
7 |
144,209,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00918:Ano1
|
APN |
7 |
144,198,489 (GRCm39) |
splice site |
probably benign |
|
|
IGL01112:Ano1
|
APN |
7 |
144,190,882 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01285:Ano1
|
APN |
7 |
144,198,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01285:Ano1
|
APN |
7 |
144,149,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01308:Ano1
|
APN |
7 |
144,149,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01407:Ano1
|
APN |
7 |
144,190,848 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01672:Ano1
|
APN |
7 |
144,209,412 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01920:Ano1
|
APN |
7 |
144,165,191 (GRCm39) |
splice site |
probably benign |
|
|
IGL01926:Ano1
|
APN |
7 |
144,164,612 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02164:Ano1
|
APN |
7 |
144,190,918 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02190:Ano1
|
APN |
7 |
144,172,620 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02214:Ano1
|
APN |
7 |
144,209,445 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02299:Ano1
|
APN |
7 |
144,143,812 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02567:Ano1
|
APN |
7 |
144,165,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03131:Ano1
|
APN |
7 |
144,157,322 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03291:Ano1
|
APN |
7 |
144,175,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03299:Ano1
|
APN |
7 |
144,207,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03394:Ano1
|
APN |
7 |
144,149,176 (GRCm39) |
splice site |
probably null |
|
|
PIT4434001:Ano1
|
UTSW |
7 |
144,164,632 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0502:Ano1
|
UTSW |
7 |
144,150,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Ano1
|
UTSW |
7 |
144,143,890 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0732:Ano1
|
UTSW |
7 |
144,173,225 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0970:Ano1
|
UTSW |
7 |
144,149,308 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0988:Ano1
|
UTSW |
7 |
144,187,390 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1074:Ano1
|
UTSW |
7 |
144,165,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1301:Ano1
|
UTSW |
7 |
144,187,426 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1528:Ano1
|
UTSW |
7 |
144,149,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Ano1
|
UTSW |
7 |
144,207,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2056:Ano1
|
UTSW |
7 |
144,201,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Ano1
|
UTSW |
7 |
144,201,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Ano1
|
UTSW |
7 |
144,201,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2059:Ano1
|
UTSW |
7 |
144,165,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2860:Ano1
|
UTSW |
7 |
144,143,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2861:Ano1
|
UTSW |
7 |
144,143,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3770:Ano1
|
UTSW |
7 |
144,149,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3970:Ano1
|
UTSW |
7 |
144,161,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4179:Ano1
|
UTSW |
7 |
144,204,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4489:Ano1
|
UTSW |
7 |
144,165,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4678:Ano1
|
UTSW |
7 |
144,223,289 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4915:Ano1
|
UTSW |
7 |
144,165,112 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5114:Ano1
|
UTSW |
7 |
144,210,820 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5362:Ano1
|
UTSW |
7 |
144,202,337 (GRCm39) |
unclassified |
probably benign |
|
|
R5364:Ano1
|
UTSW |
7 |
144,190,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5366:Ano1
|
UTSW |
7 |
144,207,946 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5387:Ano1
|
UTSW |
7 |
144,202,356 (GRCm39) |
missense |
probably benign |
|
|
R5762:Ano1
|
UTSW |
7 |
144,201,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5857:Ano1
|
UTSW |
7 |
144,190,840 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6091:Ano1
|
UTSW |
7 |
144,223,171 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6093:Ano1
|
UTSW |
7 |
144,165,114 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6177:Ano1
|
UTSW |
7 |
144,232,478 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6246:Ano1
|
UTSW |
7 |
144,187,462 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6274:Ano1
|
UTSW |
7 |
144,172,600 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6323:Ano1
|
UTSW |
7 |
144,165,423 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6574:Ano1
|
UTSW |
7 |
144,161,653 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6782:Ano1
|
UTSW |
7 |
144,175,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6880:Ano1
|
UTSW |
7 |
144,198,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6909:Ano1
|
UTSW |
7 |
144,209,468 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7066:Ano1
|
UTSW |
7 |
144,190,823 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7073:Ano1
|
UTSW |
7 |
144,192,289 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7146:Ano1
|
UTSW |
7 |
144,209,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7420:Ano1
|
UTSW |
7 |
144,209,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8468:Ano1
|
UTSW |
7 |
144,209,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8867:Ano1
|
UTSW |
7 |
144,223,397 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8923:Ano1
|
UTSW |
7 |
144,204,288 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9215:Ano1
|
UTSW |
7 |
144,149,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9281:Ano1
|
UTSW |
7 |
144,149,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9572:Ano1
|
UTSW |
7 |
144,204,293 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9668:Ano1
|
UTSW |
7 |
144,164,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9681:Ano1
|
UTSW |
7 |
144,143,893 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9756:Ano1
|
UTSW |
7 |
144,162,666 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9780:Ano1
|
UTSW |
7 |
144,209,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9792:Ano1
|
UTSW |
7 |
144,175,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9793:Ano1
|
UTSW |
7 |
144,175,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9795:Ano1
|
UTSW |
7 |
144,175,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGCAACTGAGGAATACC -3'
(R):5'- AACACTTGTGCCCCAGAGTC -3'
Sequencing Primer
(F):5'- CTGGCAACTGAGGAATACCAAAGC -3'
(R):5'- TCCTCATCTGCAAAGTGGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation