Incidental Mutation 'R0595:Ano1'
ID |
55065 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano1
|
Ensembl Gene |
ENSMUSG00000031075 |
Gene Name |
anoctamin 1, calcium activated chloride channel |
Synonyms |
Tmem16a |
MMRRC Submission |
038785-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0595 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
144142286-144305711 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 144143890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 964
(R964H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033393]
[ENSMUST00000118556]
[ENSMUST00000121758]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033393
AA Change: R906H
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000033393 Gene: ENSMUSG00000031075 AA Change: R906H
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: R964H
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113899 Gene: ENSMUSG00000031075 AA Change: R964H
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: R967H
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112616 Gene: ENSMUSG00000031075 AA Change: R967H
Domain | Start | End | E-Value | Type |
Pfam:Anoct_dimer
|
54 |
317 |
7.1e-83 |
PFAM |
Pfam:Anoctamin
|
320 |
901 |
2.2e-139 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
A |
5: 8,790,417 (GRCm39) |
D1093E |
probably damaging |
Het |
Aldh2 |
G |
T |
5: 121,711,563 (GRCm39) |
A276D |
probably damaging |
Het |
Aldh2 |
C |
T |
5: 121,711,564 (GRCm39) |
A276T |
probably damaging |
Het |
Aldh7a1 |
C |
T |
18: 56,679,965 (GRCm39) |
|
probably benign |
Het |
Apob |
G |
A |
12: 8,058,369 (GRCm39) |
V2251I |
probably benign |
Het |
Atp6v1e1 |
A |
G |
6: 120,778,091 (GRCm39) |
V148A |
probably benign |
Het |
Bbs9 |
T |
A |
9: 22,408,111 (GRCm39) |
H73Q |
probably benign |
Het |
Brca1 |
A |
G |
11: 101,415,713 (GRCm39) |
V807A |
probably benign |
Het |
Cacna1b |
C |
T |
2: 24,540,001 (GRCm39) |
|
probably benign |
Het |
Cadps2 |
A |
T |
6: 23,321,703 (GRCm39) |
|
probably null |
Het |
Cep152 |
T |
C |
2: 125,436,983 (GRCm39) |
Q519R |
probably damaging |
Het |
Cep295 |
A |
C |
9: 15,243,487 (GRCm39) |
Y1608* |
probably null |
Het |
Cfap54 |
T |
C |
10: 92,720,598 (GRCm39) |
I2619V |
unknown |
Het |
Dnajb9 |
A |
G |
12: 44,255,067 (GRCm39) |
V7A |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,851,408 (GRCm39) |
K1358R |
unknown |
Het |
Fbxw7 |
C |
A |
3: 84,884,674 (GRCm39) |
|
probably null |
Het |
Fsip2 |
T |
C |
2: 82,777,296 (GRCm39) |
Y108H |
probably damaging |
Het |
Ggt6 |
T |
A |
11: 72,328,493 (GRCm39) |
L331Q |
probably damaging |
Het |
Ifitm1 |
T |
A |
7: 140,548,242 (GRCm39) |
I25N |
possibly damaging |
Het |
Krt75 |
C |
T |
15: 101,476,789 (GRCm39) |
E367K |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,206,950 (GRCm39) |
Y487C |
probably damaging |
Het |
Map3k6 |
G |
T |
4: 132,968,574 (GRCm39) |
G59W |
probably damaging |
Het |
Mme |
A |
G |
3: 63,235,602 (GRCm39) |
T129A |
probably benign |
Het |
Mmp10 |
G |
A |
9: 7,508,199 (GRCm39) |
E442K |
probably benign |
Het |
Myh13 |
T |
C |
11: 67,235,672 (GRCm39) |
S646P |
probably benign |
Het |
Nbea |
A |
T |
3: 55,535,917 (GRCm39) |
I2889N |
probably benign |
Het |
Nlrp4d |
T |
A |
7: 10,114,972 (GRCm39) |
K581N |
probably benign |
Het |
Nr3c2 |
C |
T |
8: 77,636,233 (GRCm39) |
P445S |
possibly damaging |
Het |
Or5p63 |
A |
T |
7: 107,810,868 (GRCm39) |
N289K |
probably damaging |
Het |
Pck1 |
T |
A |
2: 172,998,822 (GRCm39) |
V360E |
probably damaging |
Het |
Plekha7 |
T |
C |
7: 115,744,203 (GRCm39) |
D766G |
probably damaging |
Het |
Prag1 |
A |
G |
8: 36,614,156 (GRCm39) |
N1236S |
probably damaging |
Het |
Prkdc |
A |
C |
16: 15,625,952 (GRCm39) |
Q3326P |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,073,189 (GRCm39) |
M57T |
probably damaging |
Het |
Rb1 |
A |
T |
14: 73,511,120 (GRCm39) |
F330I |
probably damaging |
Het |
Rufy4 |
A |
G |
1: 74,180,089 (GRCm39) |
E448G |
possibly damaging |
Het |
Scn10a |
T |
A |
9: 119,495,129 (GRCm39) |
M371L |
probably benign |
Het |
Sgta |
T |
C |
10: 80,884,742 (GRCm39) |
D189G |
probably damaging |
Het |
Spata31d1b |
A |
G |
13: 59,864,091 (GRCm39) |
H413R |
probably benign |
Het |
Stau2 |
T |
C |
1: 16,510,674 (GRCm39) |
T95A |
probably damaging |
Het |
Supt4a |
C |
T |
11: 87,633,982 (GRCm39) |
|
probably null |
Het |
Tanc2 |
A |
G |
11: 105,605,003 (GRCm39) |
|
probably null |
Het |
Tap2 |
T |
A |
17: 34,431,328 (GRCm39) |
V422D |
probably damaging |
Het |
Tas2r138 |
A |
G |
6: 40,589,799 (GRCm39) |
L149P |
probably damaging |
Het |
Tex15 |
T |
C |
8: 34,062,645 (GRCm39) |
S692P |
probably damaging |
Het |
Tgm2 |
C |
T |
2: 157,984,962 (GRCm39) |
R48H |
probably damaging |
Het |
Ticrr |
T |
A |
7: 79,345,311 (GRCm39) |
F1725L |
possibly damaging |
Het |
Tnpo2 |
T |
A |
8: 85,778,670 (GRCm39) |
C672* |
probably null |
Het |
Xkr9 |
A |
G |
1: 13,771,008 (GRCm39) |
I175V |
probably benign |
Het |
Zfp428 |
T |
A |
7: 24,214,803 (GRCm39) |
S140T |
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 |
144,198,479 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01285:Ano1
|
APN |
7 |
144,149,275 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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 |
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'- CAGACTAAGGATGCTGACTTGGCTC -3'
(R):5'- ACACAGGCGATGTAGACACTAGGC -3'
Sequencing Primer
(F):5'- AAGACCGTTGTCTCATCAGAGTG -3'
(R):5'- GCAGAGGCTGAGGCATTC -3'
|
Posted On |
2013-07-11 |