Incidental Mutation 'R6274:Ano1'
| ID |
507525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| MMRRC Submission |
044444-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6274 (G1)
|
| Quality Score |
211.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
144142286-144305711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144172600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 528
(S528T)
|
| 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 benign
Transcript: ENSMUST00000033393
AA Change: S467T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: S467T
| 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: S525T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: S525T
| 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: S528T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: S528T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
| 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: 99.6%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
100% (56/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Bcl2l10 |
T |
C |
9: 75,258,354 (GRCm39) |
I172T |
possibly damaging |
Het |
| Bpifb3 |
A |
T |
2: 153,771,243 (GRCm39) |
N385I |
possibly damaging |
Het |
| Bsnd |
A |
G |
4: 106,343,832 (GRCm39) |
V158A |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,016,783 (GRCm39) |
N481S |
probably benign |
Het |
| Cdk5rap1 |
A |
G |
2: 154,210,161 (GRCm39) |
V138A |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,366,069 (GRCm39) |
E1099G |
probably damaging |
Het |
| Cers1 |
T |
A |
8: 70,783,727 (GRCm39) |
L225Q |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,081,069 (GRCm39) |
Q7R |
probably benign |
Het |
| Clk4 |
A |
G |
11: 51,162,748 (GRCm39) |
S98G |
possibly damaging |
Het |
| Clock |
A |
G |
5: 76,385,000 (GRCm39) |
S406P |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,484,833 (GRCm39) |
I3178V |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,516,540 (GRCm39) |
S1397P |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,871,188 (GRCm39) |
L1421P |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Greb1 |
G |
T |
12: 16,785,152 (GRCm39) |
T91K |
probably damaging |
Het |
| Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
| Gucy1b2 |
A |
T |
14: 62,653,388 (GRCm39) |
C336S |
probably damaging |
Het |
| Hdac1 |
A |
G |
4: 129,412,902 (GRCm39) |
C261R |
probably damaging |
Het |
| Htt |
T |
C |
5: 35,009,431 (GRCm39) |
S1471P |
possibly damaging |
Het |
| Ice1 |
A |
G |
13: 70,742,958 (GRCm39) |
V2134A |
probably damaging |
Het |
| Ikzf1 |
C |
T |
11: 11,718,961 (GRCm39) |
Q310* |
probably null |
Het |
| Il3ra |
G |
A |
14: 14,350,180 (GRCm38) |
V112I |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,077,156 (GRCm39) |
I393V |
possibly damaging |
Het |
| Krt74 |
T |
C |
15: 101,671,872 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap29-1 |
T |
C |
11: 99,869,809 (GRCm39) |
N24S |
probably null |
Het |
| Mmut |
T |
C |
17: 41,267,136 (GRCm39) |
V570A |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,216,943 (GRCm39) |
D1138G |
probably damaging |
Het |
| Nktr |
T |
C |
9: 121,560,631 (GRCm39) |
I125T |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,320,554 (GRCm39) |
L861Q |
probably damaging |
Het |
| Notch3 |
C |
A |
17: 32,366,264 (GRCm39) |
R990L |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,350,153 (GRCm39) |
D655G |
probably benign |
Het |
| Or10ak8 |
A |
T |
4: 118,774,427 (GRCm39) |
V79E |
probably benign |
Het |
| Or5b99 |
G |
A |
19: 12,977,234 (GRCm39) |
V295I |
probably damaging |
Het |
| Osbpl11 |
T |
A |
16: 33,047,426 (GRCm39) |
I463N |
probably damaging |
Het |
| Pcsk6 |
A |
T |
7: 65,683,592 (GRCm39) |
R749W |
probably damaging |
Het |
| Plaat5 |
C |
T |
19: 7,614,831 (GRCm39) |
T231I |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,941,209 (GRCm39) |
|
probably null |
Het |
| Polr1a |
T |
A |
6: 71,931,874 (GRCm39) |
|
probably null |
Het |
| Ppm1g |
T |
C |
5: 31,363,750 (GRCm39) |
I153V |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,096,751 (GRCm39) |
S191P |
probably benign |
Het |
| Prodh |
T |
C |
16: 17,898,922 (GRCm39) |
K178E |
possibly damaging |
Het |
| Rilpl2 |
A |
G |
5: 124,607,911 (GRCm39) |
V103A |
possibly damaging |
Het |
| Sap18b |
C |
T |
8: 96,552,169 (GRCm39) |
H60Y |
probably benign |
Het |
| Sclt1 |
A |
G |
3: 41,583,951 (GRCm39) |
|
probably null |
Het |
| Serpinb1a |
G |
T |
13: 33,026,849 (GRCm39) |
H364Q |
probably damaging |
Het |
| Sez6l |
G |
A |
5: 112,623,231 (GRCm39) |
Q107* |
probably null |
Het |
| Sipa1l2 |
C |
T |
8: 126,196,611 (GRCm39) |
V708I |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Uaca |
T |
A |
9: 60,757,573 (GRCm39) |
|
probably null |
Het |
| Uqcrc1 |
C |
A |
9: 108,771,224 (GRCm39) |
H95N |
probably damaging |
Het |
| Usp9y |
C |
T |
Y: 1,316,735 (GRCm39) |
R1938H |
probably damaging |
Homo |
| Wnk4 |
C |
T |
11: 101,156,257 (GRCm39) |
R42W |
probably damaging |
Het |
| Zfp326 |
T |
A |
5: 106,053,846 (GRCm39) |
L242Q |
probably damaging |
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 |
|
R6246:Ano1
|
UTSW |
7 |
144,187,462 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- TGCTGACTCCTGGACATACC -3'
(R):5'- GCTGAGATTCAGGCCAAGTTC -3'
Sequencing Primer
(F):5'- CTGACTCCTGGACATACCTATAAATG -3'
(R):5'- ATTCAGGCCAAGTTCAGGGAGTTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation