Incidental Mutation 'R8867:Ano1'
ID |
676015 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano1
|
Ensembl Gene |
ENSMUSG00000031075 |
Gene Name |
anoctamin 1, calcium activated chloride channel |
Synonyms |
Tmem16a |
MMRRC Submission |
068682-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8867 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
144142286-144305711 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 144223397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 99
(S99P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033393]
[ENSMUST00000118556]
[ENSMUST00000121758]
[ENSMUST00000131731]
[ENSMUST00000155175]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033393
AA Change: S42P
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000033393 Gene: ENSMUSG00000031075 AA Change: S42P
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: S100P
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113899 Gene: ENSMUSG00000031075 AA Change: S100P
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 |
possibly damaging
Transcript: ENSMUST00000121758
AA Change: S99P
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000112616 Gene: ENSMUSG00000031075 AA Change: S99P
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 |
possibly damaging
Transcript: ENSMUST00000131731
AA Change: S42P
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000118206 Gene: ENSMUSG00000031075 AA Change: S42P
Domain | Start | End | E-Value | Type |
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152531
|
SMART Domains |
Protein: ENSMUSP00000119653 Gene: ENSMUSG00000031075
Domain | Start | End | E-Value | Type |
Pfam:Anoct_dimer
|
2 |
205 |
4.4e-64 |
PFAM |
Pfam:Anoctamin
|
208 |
335 |
3e-36 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155175
AA Change: S66P
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000120306 Gene: ENSMUSG00000031075 AA Change: S66P
Domain | Start | End | E-Value | Type |
low complexity region
|
153 |
171 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1786 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
99% (78/79) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
G |
A |
4: 73,861,087 (GRCm39) |
S171F |
probably damaging |
Het |
A130010J15Rik |
T |
C |
1: 192,857,406 (GRCm39) |
S253P |
probably damaging |
Het |
Acbd5 |
T |
C |
2: 22,970,370 (GRCm39) |
M97T |
possibly damaging |
Het |
Aire |
T |
C |
10: 77,873,809 (GRCm39) |
E300G |
probably damaging |
Het |
Ap5z1 |
A |
G |
5: 142,463,011 (GRCm39) |
N732D |
probably benign |
Het |
Apcs |
A |
T |
1: 172,722,004 (GRCm39) |
L114Q |
possibly damaging |
Het |
Apmap |
T |
C |
2: 150,431,886 (GRCm39) |
|
probably benign |
Het |
Ark2c |
T |
C |
18: 77,563,182 (GRCm39) |
E159G |
possibly damaging |
Het |
Asxl3 |
C |
A |
18: 22,649,547 (GRCm39) |
T512N |
possibly damaging |
Het |
Atp1a4 |
T |
C |
1: 172,072,491 (GRCm39) |
T388A |
probably damaging |
Het |
B3galt9 |
A |
G |
2: 34,728,636 (GRCm39) |
D145G |
probably damaging |
Het |
Bcl2a1a |
A |
T |
9: 88,839,503 (GRCm39) |
I134L |
probably damaging |
Het |
Chd6 |
G |
A |
2: 160,862,989 (GRCm39) |
A444V |
probably benign |
Het |
Cmbl |
C |
A |
15: 31,582,073 (GRCm39) |
H23Q |
probably benign |
Het |
Cnnm2 |
T |
A |
19: 46,750,996 (GRCm39) |
I262N |
probably damaging |
Het |
Col6a3 |
C |
T |
1: 90,715,673 (GRCm39) |
R2260H |
unknown |
Het |
Cracr2a |
T |
A |
6: 127,606,736 (GRCm39) |
L260* |
probably null |
Het |
Csmd2 |
A |
G |
4: 128,451,469 (GRCm39) |
Y3409C |
|
Het |
Cyp4b1 |
C |
T |
4: 115,493,169 (GRCm39) |
R225H |
possibly damaging |
Het |
Dcdc2a |
C |
T |
13: 25,386,266 (GRCm39) |
A380V |
probably benign |
Het |
Dnah6 |
A |
G |
6: 72,998,131 (GRCm39) |
L4097P |
probably damaging |
Het |
Dppa3 |
G |
A |
6: 122,605,602 (GRCm39) |
R52Q |
probably benign |
Het |
Fbxo31 |
C |
T |
8: 122,281,967 (GRCm39) |
R311H |
probably benign |
Het |
Fhad1 |
T |
C |
4: 141,656,885 (GRCm39) |
R90G |
probably damaging |
Het |
Fitm2 |
A |
T |
2: 163,311,602 (GRCm39) |
W204R |
possibly damaging |
Het |
Gatb |
T |
A |
3: 85,511,716 (GRCm39) |
L157H |
probably damaging |
Het |
Gm5111 |
G |
A |
6: 48,566,629 (GRCm39) |
|
probably null |
Het |
Gm7298 |
A |
C |
6: 121,748,788 (GRCm39) |
I688L |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,422,275 (GRCm39) |
|
probably null |
Het |
Ift122 |
T |
A |
6: 115,857,632 (GRCm39) |
V126E |
probably damaging |
Het |
Iqcf6 |
A |
T |
9: 106,504,698 (GRCm39) |
I121F |
possibly damaging |
Het |
Kif21a |
A |
G |
15: 90,852,382 (GRCm39) |
V902A |
probably damaging |
Het |
Klhl38 |
T |
C |
15: 58,178,435 (GRCm39) |
M512V |
probably benign |
Het |
Klk1b1 |
A |
C |
7: 43,619,747 (GRCm39) |
N102T |
probably damaging |
Het |
Lama4 |
T |
A |
10: 38,923,996 (GRCm39) |
L468Q |
probably damaging |
Het |
Lilra5 |
A |
T |
7: 4,241,165 (GRCm39) |
Q34L |
possibly damaging |
Het |
Lrrc7 |
T |
A |
3: 157,867,521 (GRCm39) |
D740V |
probably damaging |
Het |
Mapk7 |
G |
T |
11: 61,384,632 (GRCm39) |
P25T |
probably benign |
Het |
Mcm3ap |
C |
A |
10: 76,306,538 (GRCm39) |
A217D |
probably benign |
Het |
Mucl3 |
A |
T |
17: 35,948,872 (GRCm39) |
F242L |
probably benign |
Het |
Ncaph2 |
A |
G |
15: 89,254,605 (GRCm39) |
E406G |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,179,739 (GRCm39) |
I69V |
unknown |
Het |
Nfatc3 |
A |
G |
8: 106,805,640 (GRCm39) |
S170G |
probably damaging |
Het |
Nptn |
G |
A |
9: 58,526,264 (GRCm39) |
R137Q |
probably damaging |
Het |
Nsd1 |
A |
T |
13: 55,430,570 (GRCm39) |
K1581N |
probably damaging |
Het |
Or1q1 |
T |
C |
2: 36,887,691 (GRCm39) |
Y290H |
probably damaging |
Het |
Or2t43 |
A |
G |
11: 58,457,562 (GRCm39) |
L203P |
probably damaging |
Het |
Or51l4 |
G |
A |
7: 103,403,893 (GRCm39) |
Q300* |
probably null |
Het |
Or52ab2 |
T |
A |
7: 102,970,449 (GRCm39) |
L277Q |
|
Het |
Or5be3 |
G |
T |
2: 86,863,803 (GRCm39) |
T254K |
probably damaging |
Het |
Or6c211 |
A |
T |
10: 129,505,628 (GRCm39) |
C253* |
probably null |
Het |
Pdcl |
T |
C |
2: 37,242,348 (GRCm39) |
E134G |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,283,576 (GRCm39) |
Y738N |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,792,807 (GRCm39) |
D1498G |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,310,079 (GRCm39) |
N1029D |
probably benign |
Het |
Ppp3cb |
C |
A |
14: 20,596,517 (GRCm39) |
|
probably benign |
Het |
Prkn |
A |
G |
17: 11,456,448 (GRCm39) |
T91A |
probably benign |
Het |
Rgs18 |
T |
A |
1: 144,629,698 (GRCm39) |
D187V |
probably damaging |
Het |
Ripor2 |
C |
T |
13: 24,822,760 (GRCm39) |
|
probably benign |
Het |
Rpl3l |
G |
A |
17: 24,954,455 (GRCm39) |
G172D |
probably damaging |
Het |
Sdf4 |
A |
G |
4: 156,093,759 (GRCm39) |
T298A |
probably damaging |
Het |
Skic3 |
C |
T |
13: 76,279,428 (GRCm39) |
S620L |
probably damaging |
Het |
Slc17a3 |
T |
C |
13: 24,039,943 (GRCm39) |
V327A |
|
Het |
Slc4a1ap |
T |
A |
5: 31,708,059 (GRCm39) |
F677L |
probably benign |
Het |
Stoml2 |
A |
G |
4: 43,028,256 (GRCm39) |
V324A |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,989,620 (GRCm39) |
Q1833R |
probably damaging |
Het |
Syt6 |
A |
G |
3: 103,534,371 (GRCm39) |
N481D |
possibly damaging |
Het |
Tert |
T |
C |
13: 73,776,566 (GRCm39) |
M439T |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,338,686 (GRCm39) |
D1181E |
|
Het |
Tln2 |
G |
A |
9: 67,237,832 (GRCm39) |
T33I |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,633,481 (GRCm39) |
S872P |
probably benign |
Het |
Trim10 |
T |
C |
17: 37,181,048 (GRCm39) |
L93P |
probably benign |
Het |
Trpc7 |
C |
T |
13: 57,008,746 (GRCm39) |
S307N |
probably benign |
Het |
Ttn |
A |
T |
2: 76,640,427 (GRCm39) |
V13727E |
probably damaging |
Het |
Vmn1r220 |
T |
C |
13: 23,368,271 (GRCm39) |
S142G |
probably benign |
Het |
Vmn1r32 |
A |
G |
6: 66,530,651 (GRCm39) |
S42P |
probably damaging |
Het |
Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
Zfp683 |
C |
T |
4: 133,785,995 (GRCm39) |
T374I |
probably damaging |
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 |
R7874:Ano1
|
UTSW |
7 |
144,175,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R8468:Ano1
|
UTSW |
7 |
144,209,357 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TCCCGTCTGAAGCGTTTGTC -3'
(R):5'- TGAACACATGGGTCAGTGAG -3'
Sequencing Primer
(F):5'- ACTTCCGGTGAGCCTGCATC -3'
(R):5'- TGCAGGCATGAATAAACATGTTG -3'
|
Posted On |
2021-07-15 |