Incidental Mutation 'R8923:Ano1'
| ID |
679398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| MMRRC Submission |
068768-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8923 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
144142286-144305711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144204288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 308
(Y308H)
|
| 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 benign
Transcript: ENSMUST00000033393
AA Change: Y251H
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: Y251H
| 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: Y309H
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: Y309H
| 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: Y308H
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: Y308H
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: Y116H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoct_dimer
|
2 |
205 |
4.4e-64 |
PFAM |
|
Pfam:Anoctamin
|
208 |
335 |
3e-36 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155175
AA Change: Y275H
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120306
Gene: ENSMUSG00000031075
AA Change: Y275H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
171 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1331 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (53/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano6 |
T |
C |
15: 95,811,428 (GRCm39) |
I176T |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,126,931 (GRCm39) |
E273G |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,412,304 (GRCm39) |
I1245T |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,892,974 (GRCm39) |
S1618P |
possibly damaging |
Het |
| Atp5f1e |
G |
T |
2: 174,304,309 (GRCm39) |
S49* |
probably null |
Het |
| Bsdc1 |
C |
T |
4: 129,355,405 (GRCm39) |
|
probably benign |
Het |
| Ccni |
T |
C |
5: 93,335,943 (GRCm39) |
H152R |
probably damaging |
Het |
| Cdk5 |
A |
G |
5: 24,625,284 (GRCm39) |
V208A |
possibly damaging |
Het |
| Cmtm5 |
G |
A |
14: 55,176,345 (GRCm39) |
D137N |
probably damaging |
Het |
| Cyp3a41b |
A |
G |
5: 145,521,448 (GRCm39) |
M1T |
probably null |
Het |
| Cyp3a44 |
A |
T |
5: 145,736,171 (GRCm39) |
V93E |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,478,309 (GRCm39) |
I241F |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,673,901 (GRCm39) |
T1114A |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,788,284 (GRCm39) |
I750M |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,168,515 (GRCm39) |
K398E |
probably benign |
Het |
| Efcab12 |
G |
C |
6: 115,787,982 (GRCm39) |
T660S |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,831,864 (GRCm39) |
L2126P |
unknown |
Het |
| Ercc1 |
T |
A |
7: 19,081,062 (GRCm39) |
|
probably benign |
Het |
| Flnc |
G |
T |
6: 29,452,236 (GRCm39) |
D1687Y |
probably damaging |
Het |
| Frrs1 |
A |
T |
3: 116,696,070 (GRCm39) |
I530F |
possibly damaging |
Het |
| Gp5 |
G |
T |
16: 30,128,222 (GRCm39) |
L151I |
probably damaging |
Het |
| H2-Q5 |
A |
G |
17: 35,613,982 (GRCm39) |
D177G |
|
Het |
| Itgal |
A |
T |
7: 126,895,533 (GRCm39) |
|
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,129,882 (GRCm39) |
C277* |
probably null |
Het |
| Lefty1 |
T |
A |
1: 180,765,318 (GRCm39) |
C295* |
probably null |
Het |
| Lmo7 |
A |
T |
14: 102,137,679 (GRCm39) |
T794S |
probably benign |
Het |
| Mss51 |
A |
G |
14: 20,537,177 (GRCm39) |
M97T |
possibly damaging |
Het |
| Mtmr11 |
C |
T |
3: 96,072,188 (GRCm39) |
P262S |
probably damaging |
Het |
| Muc15 |
A |
T |
2: 110,562,212 (GRCm39) |
N216I |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,549,972 (GRCm39) |
D5440E |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,960,800 (GRCm39) |
K1038E |
unknown |
Het |
| Naa15 |
G |
A |
3: 51,367,443 (GRCm39) |
V539M |
probably damaging |
Het |
| Or10al2 |
A |
T |
17: 37,983,702 (GRCm39) |
I263F |
probably benign |
Het |
| Or1e26 |
T |
C |
11: 73,480,076 (GRCm39) |
I163V |
probably benign |
Het |
| Or5ac20 |
G |
C |
16: 59,104,399 (GRCm39) |
L154V |
probably benign |
Het |
| Parpbp |
C |
T |
10: 87,947,474 (GRCm39) |
V387I |
probably benign |
Het |
| Pbxip1 |
T |
C |
3: 89,352,921 (GRCm39) |
I189T |
possibly damaging |
Het |
| Prkci |
T |
A |
3: 31,095,250 (GRCm39) |
Y111* |
probably null |
Het |
| Prkd2 |
C |
G |
7: 16,599,682 (GRCm39) |
T715R |
probably damaging |
Het |
| Rab40c |
A |
C |
17: 26,102,664 (GRCm39) |
S262A |
probably benign |
Het |
| Rad51d |
A |
G |
11: 82,773,798 (GRCm39) |
L164P |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,093,106 (GRCm39) |
K513I |
probably damaging |
Het |
| Rubcn |
G |
T |
16: 32,646,049 (GRCm39) |
T828K |
probably damaging |
Het |
| Sdha |
G |
A |
13: 74,487,179 (GRCm39) |
T203M |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,217,562 (GRCm39) |
|
probably null |
Het |
| Spag8 |
T |
A |
4: 43,651,471 (GRCm39) |
T468S |
probably damaging |
Het |
| Spdl1 |
T |
C |
11: 34,704,478 (GRCm39) |
K452E |
possibly damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,308 (GRCm39) |
F597S |
|
Het |
| Sult1b1 |
A |
C |
5: 87,662,893 (GRCm39) |
F269C |
probably damaging |
Het |
| Ubap1 |
A |
G |
4: 41,379,170 (GRCm39) |
N128S |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,627,604 (GRCm39) |
Q954* |
probably null |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,768 (GRCm39) |
M1K |
probably null |
Het |
| Wdfy1 |
A |
G |
1: 79,684,017 (GRCm39) |
S373P |
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 |
|
|
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 |
|
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'- TGTAAAACCCCTGGCTGTAAATCC -3'
(R):5'- GGTGAAGGCTAAGGGTTCTC -3'
Sequencing Primer
(F):5'- CTGGCTGTAAATCCACTGGG -3'
(R):5'- AAGGCTAAGGGTTCTCTGTGACC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation