Incidental Mutation 'R7066:Ano1'
| ID |
548572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| MMRRC Submission |
045162-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
144588549-144751974 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144637086 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 249
(E249D)
|
| 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: E362D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: E362D
| 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 benign
Transcript: ENSMUST00000118556
AA Change: E420D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: E420D
| 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 benign
Transcript: ENSMUST00000121758
AA Change: E419D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: E419D
| 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 benign
Transcript: ENSMUST00000152531
AA Change: E249D
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: E249D
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (52/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,927,114 (GRCm38) |
V175A |
probably damaging |
Het |
| Adamts5 |
A |
T |
16: 85,862,764 (GRCm38) |
V880E |
probably damaging |
Het |
| Adgrf1 |
T |
A |
17: 43,310,260 (GRCm38) |
F463I |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,908,619 (GRCm38) |
D686G |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 30,352,978 (GRCm38) |
|
probably benign |
Het |
| Cdc42ep4 |
A |
G |
11: 113,729,218 (GRCm38) |
S116P |
probably damaging |
Het |
| Ces2a |
T |
C |
8: 104,740,248 (GRCm38) |
V463A |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 32,901,848 (GRCm38) |
D297G |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,990,891 (GRCm38) |
V5656E |
possibly damaging |
Het |
| Gbp5 |
A |
G |
3: 142,507,729 (GRCm38) |
T469A |
probably benign |
Het |
| Gm21663 |
C |
G |
5: 25,941,261 (GRCm38) |
|
probably null |
Het |
| Iqch |
A |
G |
9: 63,524,745 (GRCm38) |
V456A |
probably benign |
Het |
| Lpcat1 |
A |
C |
13: 73,511,381 (GRCm38) |
I373L |
probably benign |
Het |
| Morc2b |
C |
T |
17: 33,136,636 (GRCm38) |
V721I |
probably benign |
Het |
| Mrgprb1 |
C |
T |
7: 48,447,676 (GRCm38) |
V163M |
probably benign |
Het |
| Mtfr2 |
A |
G |
10: 20,354,226 (GRCm38) |
I142V |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,658,021 (GRCm38) |
S1067R |
unknown |
Het |
| Myh14 |
T |
C |
7: 44,630,755 (GRCm38) |
S892G |
possibly damaging |
Het |
| Mylk2 |
C |
T |
2: 152,911,668 (GRCm38) |
|
probably null |
Het |
| Mzf1 |
A |
T |
7: 13,043,563 (GRCm38) |
V638E |
possibly damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,322,934 (GRCm38) |
V156I |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,556,720 (GRCm38) |
E2450G |
probably damaging |
Het |
| Olfr1048 |
T |
C |
2: 86,236,658 (GRCm38) |
D52G |
probably damaging |
Het |
| Olfr1086 |
T |
A |
2: 86,677,226 (GRCm38) |
T36S |
possibly damaging |
Het |
| Olfr114 |
T |
A |
17: 37,590,143 (GRCm38) |
D70V |
probably damaging |
Het |
| Olfr1245 |
T |
C |
2: 89,575,703 (GRCm38) |
T8A |
probably damaging |
Het |
| Olfr1313 |
G |
A |
2: 112,072,196 (GRCm38) |
P129L |
probably damaging |
Het |
| Olfr389 |
A |
G |
11: 73,777,192 (GRCm38) |
I45T |
probably damaging |
Het |
| Olfr794 |
T |
C |
10: 129,571,504 (GRCm38) |
L283S |
probably damaging |
Het |
| Olfr969 |
A |
G |
9: 39,796,124 (GRCm38) |
I250V |
probably benign |
Het |
| P4htm |
T |
G |
9: 108,596,963 (GRCm38) |
K125N |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,413,197 (GRCm38) |
T240A |
probably benign |
Het |
| Pcolce2 |
T |
C |
9: 95,681,621 (GRCm38) |
V220A |
probably benign |
Het |
| Pcyox1 |
A |
T |
6: 86,394,496 (GRCm38) |
I136N |
probably damaging |
Het |
| Pde4b |
A |
G |
4: 102,602,806 (GRCm38) |
S395G |
probably benign |
Het |
| Peg3 |
C |
A |
7: 6,708,857 (GRCm38) |
R1122L |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,370,988 (GRCm38) |
V922A |
possibly damaging |
Het |
| Rad51c |
T |
C |
11: 87,402,676 (GRCm38) |
N118S |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,250,005 (GRCm38) |
V1216D |
possibly damaging |
Het |
| Rictor |
C |
T |
15: 6,772,154 (GRCm38) |
S441L |
probably benign |
Het |
| Rlf |
T |
C |
4: 121,148,787 (GRCm38) |
M999V |
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,579,918 (GRCm38) |
|
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,751,123 (GRCm38) |
K18N |
probably benign |
Het |
| Sema5b |
A |
C |
16: 35,651,312 (GRCm38) |
D425A |
probably benign |
Het |
| Siglecg |
A |
G |
7: 43,411,742 (GRCm38) |
E413G |
probably benign |
Het |
| Tcaf1 |
A |
T |
6: 42,679,177 (GRCm38) |
N288K |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,894,732 (GRCm38) |
D210G |
probably benign |
Het |
| Umps |
A |
T |
16: 33,961,733 (GRCm38) |
L273* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,705,686 (GRCm38) |
V385D |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 111,465,845 (GRCm38) |
T676A |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,307,559 (GRCm38) |
H1699R |
probably benign |
Het |
| Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,895,021 (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 |
|
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 |
|
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 |
|
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'- TGACGAGATCCCACCTCTTC -3'
(R):5'- AGAGCCTCACACTCTGACTCTC -3'
Sequencing Primer
(F):5'- AGCTGACAGAAACCAAGTTCTC -3'
(R):5'- CTCTGACTCTCGGGAAAAACAGTG -3'
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| Posted On |
2019-05-13 |
Incidental Mutation