Incidental Mutation 'IGL02164:Ano1'
| ID |
282582 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02164
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
144142286-144305711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144190918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 388
(Y388N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033393]
[ENSMUST00000118556]
[ENSMUST00000121758]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033393
AA Change: Y331N
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: Y331N
| 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: Y389N
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: Y389N
| 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: Y388N
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: Y388N
| 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: Y218N
|
| SMART Domains |
Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: Y218N
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
T |
A |
5: 48,537,524 (GRCm39) |
V187E |
probably benign |
Het |
| Abcc12 |
T |
A |
8: 87,254,033 (GRCm39) |
D917V |
probably damaging |
Het |
| Abhd15 |
A |
T |
11: 77,406,840 (GRCm39) |
E272D |
probably benign |
Het |
| Adat3 |
T |
A |
10: 80,442,461 (GRCm39) |
S100T |
probably benign |
Het |
| Adgrg6 |
T |
C |
10: 14,399,299 (GRCm39) |
|
probably benign |
Het |
| Alpl |
C |
T |
4: 137,481,290 (GRCm39) |
V121M |
probably damaging |
Het |
| Arrdc4 |
C |
T |
7: 68,389,285 (GRCm39) |
|
probably benign |
Het |
| Asxl2 |
A |
G |
12: 3,552,079 (GRCm39) |
M1274V |
probably benign |
Het |
| Bmt2 |
G |
T |
6: 13,628,878 (GRCm39) |
N268K |
possibly damaging |
Het |
| Bpifb2 |
C |
A |
2: 153,725,482 (GRCm39) |
L176M |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cd14 |
T |
C |
18: 36,858,838 (GRCm39) |
R206G |
possibly damaging |
Het |
| Cfap65 |
G |
T |
1: 74,967,304 (GRCm39) |
T215K |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,659,849 (GRCm39) |
S270P |
possibly damaging |
Het |
| Cidea |
C |
T |
18: 67,499,581 (GRCm39) |
S156L |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,703,939 (GRCm39) |
|
probably null |
Het |
| Cspg5 |
T |
C |
9: 110,080,104 (GRCm39) |
V424A |
probably damaging |
Het |
| Ctc1 |
A |
G |
11: 68,916,922 (GRCm39) |
H272R |
probably damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,772,303 (GRCm39) |
S697R |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,416,297 (GRCm39) |
S516P |
probably benign |
Het |
| Dipk2b |
T |
A |
X: 18,285,192 (GRCm39) |
R421* |
probably null |
Het |
| Dlgap4 |
G |
A |
2: 156,553,059 (GRCm39) |
R509H |
probably damaging |
Het |
| Dus3l |
T |
C |
17: 57,074,943 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,628,993 (GRCm39) |
W4183C |
probably damaging |
Het |
| Eif2s3x |
A |
T |
X: 93,248,678 (GRCm39) |
M152K |
possibly damaging |
Het |
| Epb41l1 |
C |
T |
2: 156,336,869 (GRCm39) |
|
probably benign |
Het |
| Ephx2 |
A |
G |
14: 66,341,169 (GRCm39) |
|
probably benign |
Het |
| Fabp12 |
T |
A |
3: 10,311,075 (GRCm39) |
Y129F |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,942,720 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,050,354 (GRCm39) |
|
probably null |
Het |
| Gnb1 |
T |
A |
4: 155,641,631 (GRCm39) |
|
probably null |
Het |
| Gpr107 |
C |
A |
2: 31,068,298 (GRCm39) |
Y253* |
probably null |
Het |
| Grb10 |
C |
T |
11: 11,893,962 (GRCm39) |
E320K |
probably damaging |
Het |
| Gucy2g |
G |
T |
19: 55,226,455 (GRCm39) |
H154N |
probably benign |
Het |
| H2bl1 |
T |
C |
13: 99,120,715 (GRCm39) |
K104E |
probably damaging |
Het |
| Hemk1 |
T |
A |
9: 107,208,735 (GRCm39) |
H154L |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,720,920 (GRCm39) |
|
probably null |
Het |
| Htr5a |
A |
G |
5: 28,047,463 (GRCm39) |
N6S |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,810,410 (GRCm39) |
D424G |
probably benign |
Het |
| Ift52 |
A |
G |
2: 162,867,384 (GRCm39) |
|
probably null |
Het |
| Igdcc4 |
A |
G |
9: 65,032,064 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,366,444 (GRCm39) |
K124E |
probably benign |
Het |
| Kcnc2 |
T |
A |
10: 112,291,590 (GRCm39) |
N259K |
possibly damaging |
Het |
| Kics2 |
A |
G |
10: 121,586,675 (GRCm39) |
Y194C |
probably damaging |
Het |
| Lmod2 |
A |
T |
6: 24,603,909 (GRCm39) |
I295F |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,399,536 (GRCm39) |
E2324G |
probably benign |
Het |
| Lss |
T |
C |
10: 76,372,094 (GRCm39) |
S150P |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,374,065 (GRCm39) |
N1515S |
probably benign |
Het |
| Mapk11 |
T |
C |
15: 89,029,651 (GRCm39) |
|
probably null |
Het |
| Mc3r |
T |
A |
2: 172,091,314 (GRCm39) |
F179I |
probably damaging |
Het |
| Mtmr9 |
T |
A |
14: 63,767,737 (GRCm39) |
N291Y |
probably damaging |
Het |
| Myo1h |
T |
C |
5: 114,472,157 (GRCm39) |
F396L |
probably damaging |
Het |
| Nek2 |
A |
G |
1: 191,559,416 (GRCm39) |
K307R |
probably benign |
Het |
| Or12d2 |
C |
A |
17: 37,624,578 (GRCm39) |
M232I |
probably benign |
Het |
| Osmr |
G |
A |
15: 6,871,529 (GRCm39) |
T296I |
probably damaging |
Het |
| Pcdhb11 |
T |
G |
18: 37,556,412 (GRCm39) |
S581A |
probably benign |
Het |
| Pfkp |
C |
T |
13: 6,647,951 (GRCm39) |
V542M |
probably damaging |
Het |
| Pmpca |
C |
T |
2: 26,285,581 (GRCm39) |
S519L |
probably benign |
Het |
| Ptgds |
A |
T |
2: 25,359,124 (GRCm39) |
Y44N |
probably damaging |
Het |
| Raly |
T |
A |
2: 154,701,849 (GRCm39) |
Y116* |
probably null |
Het |
| Rock2 |
A |
G |
12: 17,015,530 (GRCm39) |
D809G |
probably damaging |
Het |
| Sgsm2 |
T |
G |
11: 74,756,242 (GRCm39) |
N369T |
possibly damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,254,083 (GRCm39) |
D673G |
probably benign |
Het |
| Spire2 |
A |
T |
8: 124,059,703 (GRCm39) |
D67V |
probably damaging |
Het |
| St7l |
T |
C |
3: 104,829,597 (GRCm39) |
|
probably null |
Het |
| Stau2 |
A |
G |
1: 16,416,052 (GRCm39) |
L469P |
probably damaging |
Het |
| Tefm |
A |
G |
11: 80,030,915 (GRCm39) |
L107S |
probably damaging |
Het |
| Ticam1 |
A |
T |
17: 56,577,019 (GRCm39) |
V692D |
unknown |
Het |
| Tipin |
T |
A |
9: 64,201,631 (GRCm39) |
D143E |
probably damaging |
Het |
| Tmem132c |
C |
A |
5: 127,613,441 (GRCm39) |
T448K |
probably damaging |
Het |
| Trav8-1 |
A |
T |
14: 53,707,213 (GRCm39) |
M1L |
unknown |
Het |
| Ttn |
C |
A |
2: 76,569,141 (GRCm39) |
V27251F |
probably damaging |
Het |
| Uvrag |
A |
T |
7: 98,653,896 (GRCm39) |
C31* |
probably null |
Het |
| Zap70 |
T |
C |
1: 36,810,267 (GRCm39) |
Y126H |
probably damaging |
Het |
| Zfp644 |
A |
G |
5: 106,785,965 (GRCm39) |
V194A |
probably benign |
Het |
| Zfp663 |
C |
T |
2: 165,200,968 (GRCm39) |
W22* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation