Incidental Mutation 'R4179:Ano1'
| ID |
501794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| MMRRC Submission |
041015-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4179 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
144588549-144751974 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144650505 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 290
(M290K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033393]
[ENSMUST00000118556]
[ENSMUST00000121758]
[ENSMUST00000155175]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033393
AA Change: M266K
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: M266K
| 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: M324K
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: M324K
| 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: M323K
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: M323K
| 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 |
noncoding transcript
Transcript: ENSMUST00000141632
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152531
AA Change: M131K
|
| SMART Domains |
Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: M131K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoct_dimer
|
2 |
205 |
4.4e-64 |
PFAM |
|
Pfam:Anoctamin
|
208 |
335 |
3e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155175
AA Change: M290K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120306
Gene: ENSMUSG00000031075
AA Change: M290K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208985
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 43,651,091 (GRCm38) |
M506V |
probably benign |
Het |
| Arrdc2 |
A |
T |
8: 70,837,177 (GRCm38) |
L34Q |
probably damaging |
Het |
| Cdadc1 |
G |
T |
14: 59,592,486 (GRCm38) |
T77N |
probably benign |
Het |
| Cmtr2 |
C |
G |
8: 110,221,037 (GRCm38) |
|
probably null |
Het |
| Cnot2 |
A |
T |
10: 116,498,143 (GRCm38) |
V374E |
possibly damaging |
Het |
| Crnn |
T |
C |
3: 93,146,813 (GRCm38) |
M1T |
probably null |
Het |
| Ctsb |
A |
G |
14: 63,133,452 (GRCm38) |
N38D |
probably benign |
Het |
| Dock10 |
A |
C |
1: 80,510,417 (GRCm38) |
S2010A |
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,059,479 (GRCm38) |
T155A |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,186,509 (GRCm38) |
|
probably null |
Het |
| Eci1 |
T |
C |
17: 24,436,277 (GRCm38) |
W119R |
probably damaging |
Het |
| Foxo1 |
C |
A |
3: 52,345,419 (GRCm38) |
D334E |
probably benign |
Het |
| Gck |
T |
C |
11: 5,910,295 (GRCm38) |
T116A |
probably benign |
Het |
| Gcn1l1 |
T |
C |
5: 115,588,050 (GRCm38) |
V588A |
probably benign |
Het |
| Gm7168 |
A |
G |
17: 13,949,003 (GRCm38) |
I211V |
probably benign |
Het |
| Idh3g |
A |
T |
X: 73,782,004 (GRCm38) |
|
probably null |
Het |
| Jag1 |
A |
G |
2: 137,101,658 (GRCm38) |
F206S |
probably damaging |
Het |
| Loxl3 |
G |
A |
6: 83,037,584 (GRCm38) |
V158I |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,155,718 (GRCm38) |
|
probably null |
Het |
| Myo1b |
A |
G |
1: 51,778,526 (GRCm38) |
F532L |
probably damaging |
Het |
| Naip1 |
T |
A |
13: 100,426,176 (GRCm38) |
N827I |
probably damaging |
Het |
| Nlrp9c |
G |
A |
7: 26,384,661 (GRCm38) |
H498Y |
possibly damaging |
Het |
| Olfr149 |
A |
G |
9: 39,702,091 (GRCm38) |
I226T |
probably benign |
Het |
| Pak2 |
C |
G |
16: 32,052,187 (GRCm38) |
G59A |
probably benign |
Het |
| Pcdha2 |
T |
A |
18: 36,941,476 (GRCm38) |
L720Q |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,401,115 (GRCm38) |
M54K |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,481,383 (GRCm38) |
*71W |
probably null |
Het |
| Pkd2l1 |
T |
C |
19: 44,192,181 (GRCm38) |
N32D |
probably benign |
Het |
| Pkhd1l1 |
A |
C |
15: 44,523,649 (GRCm38) |
Y1306S |
probably benign |
Het |
| Plec |
T |
C |
15: 76,180,215 (GRCm38) |
K1953R |
possibly damaging |
Het |
| Plekhg4 |
T |
A |
8: 105,381,398 (GRCm38) |
V1029E |
possibly damaging |
Het |
| Prkd1 |
C |
A |
12: 50,366,448 (GRCm38) |
G647C |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,534,329 (GRCm38) |
R537H |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,776,384 (GRCm38) |
I1510T |
probably benign |
Het |
| Ranbp3l |
T |
C |
15: 9,057,198 (GRCm38) |
I314T |
possibly damaging |
Het |
| Rgs9 |
C |
A |
11: 109,281,448 (GRCm38) |
|
probably null |
Het |
| Riok1 |
T |
C |
13: 38,048,955 (GRCm38) |
F216L |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,457,198 (GRCm38) |
I308N |
probably damaging |
Het |
| Serpina1f |
A |
T |
12: 103,691,920 (GRCm38) |
M242K |
probably benign |
Het |
| Smox |
G |
A |
2: 131,524,850 (GRCm38) |
M576I |
possibly damaging |
Het |
| Spaca7 |
A |
T |
8: 12,586,435 (GRCm38) |
N87I |
probably damaging |
Het |
| Spink5 |
A |
T |
18: 43,987,867 (GRCm38) |
Q296L |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,498,395 (GRCm38) |
|
probably null |
Het |
| Sult2b1 |
T |
A |
7: 45,735,311 (GRCm38) |
I114F |
probably damaging |
Het |
| Tex12 |
T |
C |
9: 50,559,287 (GRCm38) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,624,475 (GRCm38) |
L26P |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsen54 |
T |
C |
11: 115,820,852 (GRCm38) |
V365A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,811,243 (GRCm38) |
L5176Q |
possibly damaging |
Het |
| Usp47 |
T |
C |
7: 112,087,884 (GRCm38) |
L683P |
probably damaging |
Het |
| Wdr18 |
T |
C |
10: 79,965,041 (GRCm38) |
L146P |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 71,889,906 (GRCm38) |
Y392C |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,960,864 (GRCm38) |
I828N |
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 |
|
R1301:Ano1
|
UTSW |
7 |
144,633,689 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
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 |
|
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'- CCTGGCTGTAAATCCACTGG -3'
(R):5'- GGCTAAGGGTTCTCTGTGAC -3'
Sequencing Primer
(F):5'- GGAACAGGTCTCTGGCACTTTTC -3'
(R):5'- TTTGCTTACCTCTGGGAGTCAC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation