Incidental Mutation 'R6246:Ano1'
| ID |
505784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| MMRRC Submission |
044436-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6246 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
144142286-144305711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144187462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 435
(T435A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033393]
[ENSMUST00000118556]
[ENSMUST00000121758]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033393
AA Change: T377A
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: T377A
| 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: T435A
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: T435A
| 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: T434A
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: T434A
| 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: T264A
|
| SMART Domains |
Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: T264A
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (78/78) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,850,999 (GRCm39) |
V2110E |
probably damaging |
Het |
| Acaca |
C |
A |
11: 84,206,796 (GRCm39) |
T1552K |
probably benign |
Het |
| Aknad1 |
A |
G |
3: 108,659,148 (GRCm39) |
D54G |
probably damaging |
Het |
| Azgp1 |
A |
G |
5: 137,983,475 (GRCm39) |
D50G |
possibly damaging |
Het |
| Bbx |
A |
G |
16: 50,045,023 (GRCm39) |
S513P |
probably benign |
Het |
| Ccdc85a |
C |
T |
11: 28,526,897 (GRCm39) |
S209N |
probably damaging |
Het |
| Cdca2 |
T |
A |
14: 67,915,277 (GRCm39) |
R661* |
probably null |
Het |
| Cdhr2 |
T |
C |
13: 54,867,523 (GRCm39) |
V451A |
probably damaging |
Het |
| Cenpt |
C |
T |
8: 106,575,891 (GRCm39) |
G152S |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,659,045 (GRCm39) |
T2A |
probably damaging |
Het |
| Chst14 |
G |
A |
2: 118,757,482 (GRCm39) |
C117Y |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,971,067 (GRCm39) |
T266M |
probably damaging |
Het |
| Clec12a |
A |
T |
6: 129,330,733 (GRCm39) |
N105I |
possibly damaging |
Het |
| Cmah |
G |
A |
13: 24,650,773 (GRCm39) |
V525M |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,239,498 (GRCm39) |
L1233H |
probably damaging |
Het |
| Cpt1a |
T |
C |
19: 3,426,550 (GRCm39) |
L572P |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,816,657 (GRCm39) |
L1365P |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlg1 |
G |
A |
16: 31,484,468 (GRCm39) |
S32N |
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,508,453 (GRCm39) |
I1877T |
probably benign |
Het |
| Duox1 |
G |
T |
2: 122,157,655 (GRCm39) |
G594C |
probably damaging |
Het |
| Eci2 |
T |
C |
13: 35,174,181 (GRCm39) |
N127D |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,811,365 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 38,945,870 (GRCm39) |
S1588P |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,866,902 (GRCm39) |
I1489F |
probably damaging |
Het |
| Flrt3 |
A |
G |
2: 140,501,721 (GRCm39) |
Y636H |
probably damaging |
Het |
| Frmd5 |
T |
A |
2: 121,381,529 (GRCm39) |
H62L |
possibly damaging |
Het |
| Gm6309 |
A |
T |
5: 146,107,050 (GRCm39) |
Y99N |
probably damaging |
Het |
| Gm8225 |
T |
C |
17: 26,762,652 (GRCm39) |
V281A |
probably benign |
Het |
| Grep1 |
C |
A |
17: 23,929,465 (GRCm39) |
G315* |
probably null |
Het |
| Grsf1 |
A |
G |
5: 88,810,451 (GRCm39) |
L353P |
possibly damaging |
Het |
| Gtf2a1l |
A |
G |
17: 88,978,975 (GRCm39) |
R58G |
probably benign |
Het |
| Guf1 |
G |
A |
5: 69,715,898 (GRCm39) |
G113R |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,892,212 (GRCm39) |
F51I |
probably damaging |
Het |
| Hibch |
T |
C |
1: 52,943,801 (GRCm39) |
S250P |
probably damaging |
Het |
| Il1rap |
T |
A |
16: 26,533,631 (GRCm39) |
M509K |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,175,577 (GRCm39) |
V595A |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,972,546 (GRCm39) |
T460A |
probably benign |
Het |
| Itprid1 |
A |
T |
6: 55,944,657 (GRCm39) |
K459N |
probably damaging |
Het |
| Kdm5a |
G |
A |
6: 120,408,871 (GRCm39) |
G1518E |
probably damaging |
Het |
| Khsrp |
T |
C |
17: 57,332,324 (GRCm39) |
D289G |
possibly damaging |
Het |
| Kif14 |
C |
T |
1: 136,404,162 (GRCm39) |
Q29* |
probably null |
Het |
| Krt72 |
T |
C |
15: 101,689,372 (GRCm39) |
K320R |
probably damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,970,870 (GRCm39) |
L71P |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,156,136 (GRCm39) |
D1037V |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,713,058 (GRCm39) |
T15A |
unknown |
Het |
| Mia3 |
G |
T |
1: 183,126,720 (GRCm39) |
T7N |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,488,363 (GRCm39) |
|
probably null |
Het |
| Mup9 |
T |
A |
4: 60,375,809 (GRCm39) |
Y29F |
probably damaging |
Het |
| Nisch |
T |
C |
14: 30,894,516 (GRCm39) |
D1105G |
probably damaging |
Het |
| Odad1 |
A |
G |
7: 45,585,788 (GRCm39) |
I116V |
probably damaging |
Het |
| Oip5 |
T |
C |
2: 119,446,101 (GRCm39) |
T136A |
probably benign |
Het |
| Or2a52 |
G |
A |
6: 43,144,436 (GRCm39) |
|
probably null |
Het |
| Osbpl10 |
C |
A |
9: 115,055,842 (GRCm39) |
N532K |
probably benign |
Het |
| P2ry12 |
C |
T |
3: 59,124,950 (GRCm39) |
V242I |
probably benign |
Het |
| Pdhx |
A |
T |
2: 102,877,137 (GRCm39) |
C26S |
probably damaging |
Het |
| Pgk2 |
A |
T |
17: 40,518,315 (GRCm39) |
I371K |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,704,495 (GRCm39) |
V238A |
probably damaging |
Het |
| Pla2g4a |
G |
A |
1: 149,748,338 (GRCm39) |
T282I |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 175,791,475 (GRCm39) |
C448* |
probably null |
Het |
| Plk1 |
T |
A |
7: 121,768,659 (GRCm39) |
I553N |
probably damaging |
Het |
| Ppp1r13l |
T |
A |
7: 19,103,783 (GRCm39) |
I88K |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,577,692 (GRCm39) |
|
probably null |
Het |
| Septin7 |
A |
G |
9: 25,218,817 (GRCm39) |
E428G |
probably benign |
Het |
| Serpina3j |
G |
A |
12: 104,283,706 (GRCm39) |
G268D |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,460,289 (GRCm39) |
D555V |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,962,980 (GRCm39) |
I376F |
probably benign |
Het |
| Spag6 |
G |
A |
2: 18,703,906 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,289,204 (GRCm39) |
I454V |
probably benign |
Het |
| Tlcd3b |
T |
A |
7: 126,426,668 (GRCm39) |
F30L |
probably damaging |
Het |
| Tm9sf1 |
C |
T |
14: 55,873,827 (GRCm39) |
R557H |
probably damaging |
Het |
| Traf5 |
C |
T |
1: 191,754,853 (GRCm39) |
E28K |
probably damaging |
Het |
| Trav23 |
G |
A |
14: 54,214,885 (GRCm39) |
E33K |
probably damaging |
Het |
| Trim32 |
T |
C |
4: 65,532,801 (GRCm39) |
S453P |
probably damaging |
Het |
| Tssk1 |
A |
G |
16: 17,713,303 (GRCm39) |
T363A |
probably benign |
Het |
| Txnrd3 |
A |
G |
6: 89,628,523 (GRCm39) |
N88S |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,216,246 (GRCm39) |
S182G |
probably benign |
Het |
| Vmn2r89 |
A |
T |
14: 51,693,503 (GRCm39) |
R284S |
probably damaging |
Het |
| Zbtb14 |
A |
G |
17: 69,694,478 (GRCm39) |
T59A |
possibly damaging |
Het |
| Zcchc2 |
T |
A |
1: 105,957,796 (GRCm39) |
S756T |
possibly damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
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 |
144,149,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01285:Ano1
|
APN |
7 |
144,198,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGAAGAGTGTGTTCCTG -3'
(R):5'- TGGGTCCCATGCCTGTAAAG -3'
Sequencing Primer
(F):5'- CAGAAGAGTGTGTTCCTGTCCCTG -3'
(R):5'- TGCCTGTAAAGCATGTGACAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation