Incidental Mutation 'R6782:Ano1'
| ID |
531470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| MMRRC Submission |
044896-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6782 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
144142286-144305711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 144175424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 498
(T498I)
|
| 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: T441I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: T441I
| 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: T499I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: T499I
| 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: T498I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: T498I
| 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: T328I
|
| SMART Domains |
Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: T328I
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.7%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
C |
T |
7: 119,847,308 (GRCm39) |
A724V |
probably damaging |
Het |
| Abcc3 |
A |
T |
11: 94,249,776 (GRCm39) |
F1055L |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Ankrd17 |
T |
C |
5: 90,402,597 (GRCm39) |
K1488R |
possibly damaging |
Het |
| Arhgap42 |
T |
A |
9: 9,115,721 (GRCm39) |
K118N |
probably damaging |
Het |
| Arl5b |
A |
G |
2: 15,077,993 (GRCm39) |
E106G |
probably damaging |
Het |
| Atp5mc3 |
C |
T |
2: 73,739,672 (GRCm39) |
R56Q |
probably benign |
Het |
| Bbx |
T |
C |
16: 50,020,928 (GRCm39) |
R749G |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,350,376 (GRCm39) |
S490P |
probably damaging |
Het |
| Ccdc63 |
A |
T |
5: 122,249,077 (GRCm39) |
Y417* |
probably null |
Het |
| Cep162 |
A |
T |
9: 87,093,737 (GRCm39) |
N880K |
probably benign |
Het |
| Chd2 |
G |
A |
7: 73,125,127 (GRCm39) |
Q77* |
probably null |
Het |
| Cntrl |
T |
G |
2: 35,060,658 (GRCm39) |
M1397R |
possibly damaging |
Het |
| Dcaf7 |
A |
G |
11: 105,945,581 (GRCm39) |
Y310C |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,449,302 (GRCm39) |
S4235T |
possibly damaging |
Het |
| Dot1l |
C |
T |
10: 80,625,224 (GRCm39) |
P1157L |
probably damaging |
Het |
| Esco2 |
T |
C |
14: 66,057,465 (GRCm39) |
T577A |
probably benign |
Het |
| Foxp1 |
T |
C |
6: 98,907,106 (GRCm39) |
D624G |
probably damaging |
Het |
| Gfi1 |
A |
T |
5: 107,873,819 (GRCm39) |
|
probably null |
Het |
| Gm10985 |
TTCTCTCTCTCTCTCTCT |
TTCTCTCTCTCTCTCT |
3: 53,752,626 (GRCm39) |
|
probably null |
Het |
| Gm5113 |
G |
A |
7: 29,878,178 (GRCm39) |
V89I |
probably benign |
Het |
| Gtf3c2 |
A |
C |
5: 31,327,180 (GRCm39) |
L382R |
probably benign |
Het |
| H3c2 |
T |
C |
13: 23,936,393 (GRCm39) |
S11P |
probably benign |
Het |
| Hhip |
T |
C |
8: 80,778,233 (GRCm39) |
N99S |
probably damaging |
Het |
| Htr5b |
T |
C |
1: 121,438,227 (GRCm39) |
I335V |
probably benign |
Het |
| Ifi206 |
A |
G |
1: 173,308,923 (GRCm39) |
S358P |
unknown |
Het |
| Loxhd1 |
T |
A |
18: 77,518,873 (GRCm39) |
V1893D |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,945,968 (GRCm39) |
R11G |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
| Npr1 |
T |
C |
3: 90,363,560 (GRCm39) |
N821S |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,137,090 (GRCm39) |
D180G |
probably damaging |
Het |
| Or52a24 |
A |
G |
7: 103,381,549 (GRCm39) |
T139A |
possibly damaging |
Het |
| Or5p63 |
T |
C |
7: 107,811,670 (GRCm39) |
D22G |
probably benign |
Het |
| Or5p70 |
T |
G |
7: 107,994,744 (GRCm39) |
M139R |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,143,852 (GRCm39) |
D739V |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Ptprd |
T |
C |
4: 76,243,377 (GRCm39) |
|
probably null |
Het |
| Ralgapb |
G |
A |
2: 158,278,486 (GRCm39) |
G5R |
probably damaging |
Het |
| Ric8b |
T |
C |
10: 84,783,391 (GRCm39) |
V83A |
probably damaging |
Het |
| Sdc2 |
C |
A |
15: 33,028,281 (GRCm39) |
T133K |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,947,088 (GRCm39) |
V592D |
probably damaging |
Het |
| Sorcs1 |
G |
T |
19: 50,164,560 (GRCm39) |
Y990* |
probably null |
Het |
| Spata13 |
G |
T |
14: 60,928,912 (GRCm39) |
G157W |
probably damaging |
Het |
| Tada1 |
A |
G |
1: 166,217,541 (GRCm39) |
N226S |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 49,099,291 (GRCm39) |
|
probably null |
Het |
| Tll1 |
A |
G |
8: 64,524,315 (GRCm39) |
V457A |
probably benign |
Het |
| Tmem232 |
T |
C |
17: 65,807,119 (GRCm39) |
K25E |
possibly damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,773,063 (GRCm39) |
S406G |
unknown |
Het |
| Ush2a |
A |
G |
1: 188,089,031 (GRCm39) |
M329V |
probably benign |
Het |
| Vmn2r107 |
T |
C |
17: 20,577,141 (GRCm39) |
S380P |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,519,563 (GRCm39) |
M465T |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Zfp217 |
T |
C |
2: 169,958,178 (GRCm39) |
D463G |
probably damaging |
Het |
| Zfp345 |
T |
C |
2: 150,315,274 (GRCm39) |
S88G |
probably damaging |
Het |
| Zfp975 |
A |
C |
7: 42,311,454 (GRCm39) |
N386K |
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 |
|
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 |
|
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 |
|
|
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'- GGTAGATGGAAAACGGTTGCCC -3'
(R):5'- AACACTTGTGCCCCAGAGTC -3'
Sequencing Primer
(F):5'- GCCCTGGCAACTGAGGAATAC -3'
(R):5'- TCCTCATCTGCAAAGTGGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation