Incidental Mutation 'R9792:Ano1'
| ID |
734687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9792 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
144142286-144305711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144175434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 495
(W495R)
|
| 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: W438R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: W438R
| 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: W496R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: W496R
| 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: W495R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: W495R
| 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 |
probably damaging
Transcript: ENSMUST00000152531
AA Change: W325R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: W325R
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.0%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029F12Rik |
T |
C |
13: 97,166,719 (GRCm39) |
D99G |
unknown |
Het |
| Add2 |
A |
T |
6: 86,078,135 (GRCm39) |
|
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,874,822 (GRCm39) |
D453G |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,261,129 (GRCm39) |
V656A |
probably benign |
Het |
| Alpk3 |
T |
C |
7: 80,750,881 (GRCm39) |
|
probably null |
Het |
| Apc |
T |
A |
18: 34,447,628 (GRCm39) |
L1508Q |
probably damaging |
Het |
| Bbs12 |
C |
T |
3: 37,374,224 (GRCm39) |
T224I |
possibly damaging |
Het |
| Cald1 |
A |
T |
6: 34,723,071 (GRCm39) |
M52L |
|
Het |
| Calhm6 |
T |
C |
10: 34,002,544 (GRCm39) |
I180V |
probably damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,587,784 (GRCm39) |
S517G |
unknown |
Het |
| Cdk11b |
T |
A |
4: 155,732,378 (GRCm39) |
H510Q |
unknown |
Het |
| Cdk12 |
T |
A |
11: 98,102,051 (GRCm39) |
D636E |
unknown |
Het |
| Cfap53 |
A |
G |
18: 74,438,741 (GRCm39) |
D306G |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,482,252 (GRCm39) |
|
probably null |
Het |
| Cnrip1 |
G |
A |
11: 17,004,812 (GRCm39) |
A121T |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,409,192 (GRCm39) |
T477S |
probably benign |
Het |
| Cyp2c54 |
G |
C |
19: 40,034,525 (GRCm39) |
P382A |
probably damaging |
Het |
| Cyp4a30b |
A |
G |
4: 115,316,167 (GRCm39) |
T298A |
probably benign |
Het |
| Dmkn |
A |
T |
7: 30,464,845 (GRCm39) |
N273Y |
unknown |
Het |
| Dsp |
A |
G |
13: 38,379,494 (GRCm39) |
T2080A |
possibly damaging |
Het |
| Ermard |
T |
C |
17: 15,281,441 (GRCm39) |
L617P |
probably damaging |
Het |
| Grik3 |
A |
G |
4: 125,526,315 (GRCm39) |
T183A |
probably damaging |
Het |
| Gstt1 |
T |
C |
10: 75,634,391 (GRCm39) |
|
probably benign |
Het |
| Hao1 |
T |
A |
2: 134,372,552 (GRCm39) |
Y152F |
possibly damaging |
Het |
| Hdac7 |
T |
C |
15: 97,698,671 (GRCm39) |
T629A |
possibly damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,608,689 (GRCm39) |
P1498S |
possibly damaging |
Het |
| Iqcf3 |
T |
A |
9: 106,434,714 (GRCm39) |
K41N |
probably benign |
Het |
| Lrriq3 |
T |
C |
3: 154,893,313 (GRCm39) |
M338T |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,876,128 (GRCm39) |
I493N |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,121,304 (GRCm39) |
|
probably null |
Het |
| Mzf1 |
T |
C |
7: 12,786,131 (GRCm39) |
T267A |
probably benign |
Het |
| N4bp2l2 |
A |
G |
5: 150,584,897 (GRCm39) |
I19T |
probably benign |
Het |
| Ncoa2 |
G |
T |
1: 13,260,355 (GRCm39) |
Q107K |
possibly damaging |
Het |
| Nin |
A |
T |
12: 70,094,009 (GRCm39) |
I605N |
|
Het |
| Nr1h4 |
T |
G |
10: 89,314,651 (GRCm39) |
T286P |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 34,003,489 (GRCm39) |
D213G |
possibly damaging |
Het |
| Nuggc |
T |
C |
14: 65,847,345 (GRCm39) |
S131P |
probably damaging |
Het |
| Or4a78 |
T |
C |
2: 89,497,811 (GRCm39) |
I140V |
probably benign |
Het |
| Or4f14c |
T |
C |
2: 111,941,330 (GRCm39) |
H89R |
probably benign |
Het |
| Or52m1 |
G |
A |
7: 102,289,788 (GRCm39) |
V112I |
probably benign |
Het |
| Or5b113 |
A |
T |
19: 13,342,514 (GRCm39) |
H174L |
probably damaging |
Het |
| Or8h9 |
T |
A |
2: 86,789,119 (GRCm39) |
I228F |
probably damaging |
Het |
| Otud7a |
C |
T |
7: 63,378,845 (GRCm39) |
R232W |
probably damaging |
Het |
| Pacsin3 |
C |
A |
2: 91,094,160 (GRCm39) |
A363D |
probably benign |
Het |
| Pcdh17 |
C |
T |
14: 84,770,350 (GRCm39) |
R943* |
probably null |
Het |
| Pcnx2 |
A |
G |
8: 126,534,820 (GRCm39) |
F1270L |
probably damaging |
Het |
| Pds5a |
T |
C |
5: 65,795,989 (GRCm39) |
M634V |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,800,172 (GRCm39) |
T2978A |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,406,983 (GRCm39) |
S2407P |
probably benign |
Het |
| Polr2i |
T |
C |
7: 29,932,190 (GRCm39) |
Y44H |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,671,822 (GRCm39) |
Y489* |
probably null |
Het |
| Ppp3r1 |
C |
A |
11: 17,132,117 (GRCm39) |
A5E |
probably benign |
Het |
| Pramel60 |
C |
A |
5: 95,339,810 (GRCm39) |
H110N |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,118,429 (GRCm39) |
D520G |
probably benign |
Het |
| Rex2 |
A |
C |
4: 147,142,039 (GRCm39) |
N176H |
probably damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,017,300 (GRCm39) |
N194S |
possibly damaging |
Het |
| Sidt2 |
A |
G |
9: 45,850,563 (GRCm39) |
Y851H |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,757,591 (GRCm39) |
I527T |
possibly damaging |
Het |
| Slc6a7 |
C |
A |
18: 61,138,866 (GRCm39) |
R214L |
probably benign |
Het |
| Stx7 |
T |
C |
10: 24,057,475 (GRCm39) |
L167P |
probably damaging |
Het |
| Tas2r120 |
A |
T |
6: 132,634,528 (GRCm39) |
K203N |
possibly damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,119,839 (GRCm39) |
L81P |
probably damaging |
Het |
| Tert |
A |
G |
13: 73,792,442 (GRCm39) |
E903G |
probably benign |
Het |
| Tpm4 |
A |
G |
8: 72,905,663 (GRCm39) |
I248V |
probably benign |
Het |
| Trim42 |
A |
G |
9: 97,245,429 (GRCm39) |
I457T |
probably damaging |
Het |
| Ttc23l |
T |
A |
15: 10,537,731 (GRCm39) |
I180F |
probably benign |
Het |
| Usp9y |
T |
C |
Y: 1,364,679 (GRCm39) |
M1045V |
probably benign |
Het |
| Vim |
A |
G |
2: 13,579,598 (GRCm39) |
D119G |
probably benign |
Het |
| Vmn1r82 |
A |
T |
7: 12,039,083 (GRCm39) |
M119L |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,899,496 (GRCm39) |
T803A |
probably damaging |
Het |
| Vwa3a |
C |
A |
7: 120,383,307 (GRCm39) |
A636D |
probably damaging |
Het |
| Zbtb7a |
G |
A |
10: 80,980,378 (GRCm39) |
A191T |
probably benign |
Het |
| Zfp819 |
A |
G |
7: 43,261,519 (GRCm39) |
H62R |
possibly 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 |
|
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 |
|
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'- CCCTGGCAACTGAGGAATAC -3'
(R):5'- AACACTTGTGCCCCAGAGTC -3'
Sequencing Primer
(F):5'- CCTGGCAACTGAGGAATACCAAAG -3'
(R):5'- TCCTCATCTGCAAAGTGGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation