Incidental Mutation 'R5762:Ano1'
| ID |
446060 |
| 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 # |
R5762 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
144588549-144751974 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144648037 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 338
(Y338F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033393]
[ENSMUST00000118556]
[ENSMUST00000121758]
[ENSMUST00000155175]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033393
AA Change: Y281F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: Y281F
| 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: Y339F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: Y339F
| 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: Y338F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: Y338F
| 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: Y168F
|
| SMART Domains |
Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: Y168F
| 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 benign
Transcript: ENSMUST00000155175
|
| SMART Domains |
Protein: ENSMUSP00000120306
Gene: ENSMUSG00000031075
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208985
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 76,896,598 (GRCm38) |
D148E |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,581,665 (GRCm38) |
I4631V |
probably damaging |
Het |
| Adamts16 |
A |
T |
13: 70,738,498 (GRCm38) |
W1058R |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,430,695 (GRCm38) |
I163V |
probably null |
Het |
| Atp4a |
A |
G |
7: 30,719,096 (GRCm38) |
D603G |
probably damaging |
Het |
| Bmp2k |
GGCCCGC |
GGC |
5: 97,087,191 (GRCm38) |
|
probably null |
Het |
| Brinp2 |
T |
C |
1: 158,246,586 (GRCm38) |
D655G |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,850,362 (GRCm38) |
S299P |
probably benign |
Het |
| Calhm1 |
T |
A |
19: 47,143,619 (GRCm38) |
|
probably null |
Het |
| Ccdc187 |
G |
A |
2: 26,276,092 (GRCm38) |
P775L |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,236,598 (GRCm38) |
F48S |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,954,121 (GRCm38) |
Y41H |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 9,748,389 (GRCm38) |
S701P |
possibly damaging |
Het |
| Ctbp2 |
G |
T |
7: 132,995,359 (GRCm38) |
A665D |
probably damaging |
Het |
| Ctsd |
C |
A |
7: 142,383,529 (GRCm38) |
G81C |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,450,750 (GRCm38) |
D246H |
probably benign |
Het |
| Dpysl4 |
C |
T |
7: 139,091,937 (GRCm38) |
A67V |
probably benign |
Het |
| Dst |
C |
T |
1: 34,179,357 (GRCm38) |
T1626I |
probably damaging |
Het |
| Etfdh |
A |
C |
3: 79,615,954 (GRCm38) |
D217E |
probably null |
Het |
| Far1 |
T |
A |
7: 113,568,189 (GRCm38) |
Y494N |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,771,534 (GRCm38) |
T1110M |
unknown |
Het |
| Frmd4a |
G |
T |
2: 4,484,065 (GRCm38) |
D78Y |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,977,916 (GRCm38) |
M1526I |
probably benign |
Het |
| Ggn |
C |
T |
7: 29,172,352 (GRCm38) |
P399S |
probably damaging |
Het |
| H2ac6 |
C |
T |
13: 23,683,905 (GRCm38) |
G5S |
probably damaging |
Het |
| Hap1 |
A |
G |
11: 100,355,774 (GRCm38) |
W102R |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 56,197,190 (GRCm38) |
S3629R |
possibly damaging |
Het |
| Hyal4 |
A |
C |
6: 24,765,862 (GRCm38) |
Y405S |
possibly damaging |
Het |
| Ifi204 |
G |
A |
1: 173,752,759 (GRCm38) |
T395I |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,498,438 (GRCm38) |
E1147G |
probably damaging |
Het |
| Inpp5a |
T |
A |
7: 139,538,181 (GRCm38) |
I225N |
possibly damaging |
Het |
| Kcnv1 |
T |
C |
15: 45,109,122 (GRCm38) |
K455R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,310,457 (GRCm38) |
D2796G |
probably benign |
Het |
| Ngp |
A |
T |
9: 110,422,333 (GRCm38) |
D143V |
probably benign |
Het |
| Nlrp5 |
T |
C |
7: 23,418,839 (GRCm38) |
C663R |
possibly damaging |
Het |
| Nup205 |
G |
T |
6: 35,227,680 (GRCm38) |
R1469L |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,230,548 (GRCm38) |
F1512I |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 72,670,914 (GRCm38) |
S594P |
probably damaging |
Het |
| Nxpe2 |
A |
C |
9: 48,319,575 (GRCm38) |
V498G |
probably benign |
Het |
| P3h4 |
G |
A |
11: 100,411,851 (GRCm38) |
R320C |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,179,255 (GRCm38) |
L2273P |
probably damaging |
Het |
| Ppp1r14b |
C |
T |
19: 6,976,583 (GRCm38) |
L100F |
probably damaging |
Het |
| Prlhr |
C |
T |
19: 60,467,068 (GRCm38) |
W353* |
probably null |
Het |
| Ralgps2 |
C |
T |
1: 156,832,664 (GRCm38) |
|
probably null |
Het |
| Rrp12 |
C |
T |
19: 41,880,152 (GRCm38) |
G584D |
possibly damaging |
Het |
| Scamp3 |
T |
C |
3: 89,181,197 (GRCm38) |
F237L |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,635,441 (GRCm38) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,377,495 (GRCm38) |
R265L |
probably benign |
Het |
| Shroom1 |
A |
T |
11: 53,463,991 (GRCm38) |
D246V |
probably benign |
Het |
| Snapc4 |
T |
A |
2: 26,378,606 (GRCm38) |
E14D |
probably damaging |
Het |
| Spag5 |
A |
T |
11: 78,304,146 (GRCm38) |
Q93L |
probably benign |
Het |
| Tcstv5 |
T |
A |
13: 119,949,965 (GRCm38) |
Q35L |
probably benign |
Het |
| Tle1 |
C |
T |
4: 72,120,135 (GRCm38) |
|
probably null |
Het |
| Ttll10 |
G |
A |
4: 156,034,981 (GRCm38) |
P683S |
possibly damaging |
Het |
| Unc13c |
A |
C |
9: 73,812,367 (GRCm38) |
D1006E |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,693,796 (GRCm38) |
K3101N |
possibly damaging |
Het |
| Vdac1 |
A |
G |
11: 52,387,453 (GRCm38) |
Y247C |
possibly damaging |
Het |
| Vmn2r1 |
G |
A |
3: 64,090,053 (GRCm38) |
V377I |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,733,393 (GRCm38) |
T552A |
probably damaging |
Het |
| Xrcc3 |
C |
T |
12: 111,804,610 (GRCm38) |
R295Q |
probably damaging |
Het |
| Zfp780b |
T |
C |
7: 27,964,818 (GRCm38) |
N104S |
probably benign |
Het |
| Zkscan17 |
A |
G |
11: 59,487,571 (GRCm38) |
V262A |
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 |
|
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 |
|
|
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'- TTCTGCCAGCCAAAACTGC -3'
(R):5'- TGCCTTCTACCCAGGGAAGAAC -3'
Sequencing Primer
(F):5'- AAAACTGCCCTGTGTGTGAC -3'
(R):5'- ACCCCAAGATGGTGACTGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation