Incidental Mutation 'R3770:Ano1'
| ID |
273216 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3770 (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 G
at 144595569 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 852
(Y852H)
|
| 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: Y791H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: Y791H
| 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: Y849H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: Y849H
| 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: Y852H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: Y852H
| 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: ENSMUST00000131571
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
T |
C |
11: 116,174,387 (GRCm38) |
D578G |
probably damaging |
Het |
| Adgrb1 |
T |
A |
15: 74,588,308 (GRCm38) |
I543N |
probably damaging |
Het |
| Agbl1 |
T |
C |
7: 76,425,929 (GRCm38) |
|
probably null |
Het |
| Apol9a |
G |
C |
15: 77,404,396 (GRCm38) |
T257S |
probably benign |
Het |
| Arhgap23 |
A |
T |
11: 97,476,106 (GRCm38) |
D1071V |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,581,194 (GRCm38) |
D842G |
probably benign |
Het |
| Brd7 |
A |
T |
8: 88,339,407 (GRCm38) |
|
probably null |
Het |
| Btbd7 |
G |
A |
12: 102,795,192 (GRCm38) |
P578L |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,205,303 (GRCm38) |
D1542N |
possibly damaging |
Het |
| Cfap54 |
C |
T |
10: 92,878,536 (GRCm38) |
M2660I |
unknown |
Het |
| Dock7 |
T |
C |
4: 98,970,829 (GRCm38) |
T1409A |
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,425,555 (GRCm38) |
D410G |
probably benign |
Het |
| Foxk2 |
CGGGGGG |
CGGGGGGGGG |
11: 121,260,491 (GRCm38) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 56,165,007 (GRCm38) |
I2703V |
probably benign |
Het |
| Ifna7 |
T |
C |
4: 88,816,727 (GRCm38) |
V167A |
probably damaging |
Het |
| Iqcg |
G |
A |
16: 33,050,008 (GRCm38) |
|
silent |
Het |
| Klf3 |
A |
G |
5: 64,827,217 (GRCm38) |
|
probably null |
Het |
| Krtap12-1 |
G |
T |
10: 77,720,895 (GRCm38) |
V91L |
probably benign |
Het |
| Lipo5 |
G |
T |
19: 33,467,800 (GRCm38) |
T123N |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,374,767 (GRCm38) |
S4689P |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 20,025,019 (GRCm38) |
V313D |
probably damaging |
Het |
| Mypn |
C |
A |
10: 63,125,707 (GRCm38) |
L1035F |
possibly damaging |
Het |
| Neurl1a |
T |
C |
19: 47,239,889 (GRCm38) |
L58P |
probably damaging |
Het |
| Or5aq1 |
C |
T |
2: 87,135,814 (GRCm38) |
C169Y |
probably damaging |
Het |
| Pla2g5 |
C |
G |
4: 138,801,435 (GRCm38) |
C70S |
probably damaging |
Het |
| Pole4 |
G |
A |
6: 82,622,114 (GRCm38) |
R119C |
possibly damaging |
Het |
| Ppm1h |
G |
T |
10: 122,904,122 (GRCm38) |
L367F |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,808,424 (GRCm38) |
C414Y |
probably damaging |
Het |
| Rasal3 |
A |
T |
17: 32,392,151 (GRCm38) |
L912Q |
probably damaging |
Het |
| Reln |
C |
T |
5: 21,948,566 (GRCm38) |
V2247M |
probably damaging |
Het |
| Rhot2 |
T |
C |
17: 25,840,547 (GRCm38) |
D407G |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 37,929,603 (GRCm38) |
R313W |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 (GRCm38) |
C537R |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,784,049 (GRCm38) |
D825V |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 94,353,040 (GRCm38) |
H832R |
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,567,798 (GRCm38) |
D300G |
possibly damaging |
Het |
| Sos1 |
A |
G |
17: 80,398,308 (GRCm38) |
V1278A |
probably damaging |
Het |
| Sstr3 |
C |
A |
15: 78,540,377 (GRCm38) |
V57L |
probably damaging |
Het |
| Tex2 |
T |
A |
11: 106,544,252 (GRCm38) |
R783W |
unknown |
Het |
| Tjp2 |
A |
T |
19: 24,100,826 (GRCm38) |
I901N |
probably benign |
Het |
| Top1 |
A |
T |
2: 160,721,522 (GRCm38) |
I758F |
probably damaging |
Het |
| Trim41 |
T |
C |
11: 48,809,084 (GRCm38) |
E98G |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,940,415 (GRCm38) |
N764K |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,270,600 (GRCm38) |
I471F |
probably damaging |
Het |
| Wdr25 |
G |
A |
12: 108,898,420 (GRCm38) |
V164M |
probably damaging |
Het |
| Zdhhc13 |
T |
A |
7: 48,802,944 (GRCm38) |
L5M |
probably damaging |
Het |
| Zfp747l1 |
A |
G |
7: 127,384,863 (GRCm38) |
|
probably benign |
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 |
|
R3970:Ano1
|
UTSW |
7 |
144,607,963 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4179:Ano1
|
UTSW |
7 |
144,650,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- ACATTACTCATTGAGTCCTGCC -3'
(R):5'- ACAATCAGGCTCCTGCAAG -3'
Sequencing Primer
(F):5'- ATTGAGTCCTGCCCCCGAAG -3'
(R):5'- GCAAGCTGCAGAGTAGAGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation