Incidental Mutation 'R6909:Ano1'
| ID |
538925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| MMRRC Submission |
045001-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6909 (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 144209468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 211
(T211M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033393]
[ENSMUST00000118556]
[ENSMUST00000121758]
[ENSMUST00000131731]
[ENSMUST00000155175]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033393
AA Change: T187M
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: T187M
| 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: T245M
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: T245M
| 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: T244M
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: T244M
| 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 |
possibly damaging
Transcript: ENSMUST00000131731
AA Change: T187M
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118206
Gene: ENSMUSG00000031075
AA Change: T187M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: T52M
| 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 damaging
Transcript: ENSMUST00000155175
AA Change: T211M
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120306
Gene: ENSMUSG00000031075
AA Change: T211M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
171 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
T |
11: 110,006,323 (GRCm39) |
Q1261K |
probably benign |
Het |
| Acp3 |
T |
C |
9: 104,178,164 (GRCm39) |
Y329C |
probably damaging |
Het |
| Agrn |
G |
T |
4: 156,261,464 (GRCm39) |
H585N |
possibly damaging |
Het |
| Atic |
T |
G |
1: 71,616,005 (GRCm39) |
|
probably null |
Het |
| Catsperd |
T |
A |
17: 56,957,781 (GRCm39) |
S229R |
probably damaging |
Het |
| Ccdc168 |
C |
T |
1: 44,098,935 (GRCm39) |
R721Q |
possibly damaging |
Het |
| Cfap210 |
A |
T |
2: 69,612,192 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
A |
G |
5: 123,425,815 (GRCm39) |
Y418C |
probably damaging |
Het |
| Cibar1 |
T |
C |
4: 12,168,309 (GRCm39) |
T97A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,227,760 (GRCm39) |
T2443A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,169,920 (GRCm39) |
E1772V |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,472,899 (GRCm39) |
L107* |
probably null |
Het |
| Fpr3 |
T |
A |
17: 18,191,429 (GRCm39) |
F233L |
probably benign |
Het |
| Gjc2 |
A |
T |
11: 59,067,918 (GRCm39) |
V188E |
unknown |
Het |
| Gm45861 |
T |
A |
8: 28,017,109 (GRCm39) |
Y690N |
unknown |
Het |
| Gsdma2 |
T |
A |
11: 98,543,383 (GRCm39) |
C224* |
probably null |
Het |
| Gucy2d |
T |
A |
7: 98,116,832 (GRCm39) |
Y881N |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,059,936 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
G |
T |
12: 51,810,945 (GRCm39) |
|
probably null |
Het |
| Ifitm5 |
A |
G |
7: 140,529,172 (GRCm39) |
F146L |
probably benign |
Het |
| Impg2 |
T |
C |
16: 56,024,947 (GRCm39) |
F18S |
probably damaging |
Het |
| Ino80c |
T |
A |
18: 24,241,812 (GRCm39) |
|
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,569,915 (GRCm39) |
H1109R |
probably benign |
Het |
| Kdm3b |
T |
A |
18: 34,960,381 (GRCm39) |
|
probably null |
Het |
| Klra8 |
T |
G |
6: 130,102,123 (GRCm39) |
N104T |
probably benign |
Het |
| Llgl2 |
G |
A |
11: 115,741,625 (GRCm39) |
C585Y |
probably damaging |
Het |
| Lmod2 |
T |
A |
6: 24,604,157 (GRCm39) |
D377E |
probably benign |
Het |
| Lrat |
G |
A |
3: 82,810,961 (GRCm39) |
S20F |
probably damaging |
Het |
| Lrrc43 |
T |
A |
5: 123,638,482 (GRCm39) |
H363Q |
probably benign |
Het |
| Lyst |
T |
G |
13: 13,917,960 (GRCm39) |
I3340S |
probably damaging |
Het |
| Magi1 |
C |
A |
6: 93,674,301 (GRCm39) |
G948W |
probably damaging |
Het |
| Map3k4 |
A |
C |
17: 12,489,872 (GRCm39) |
F520V |
probably damaging |
Het |
| Mcm4 |
A |
T |
16: 15,446,561 (GRCm39) |
N607K |
probably damaging |
Het |
| Mta3 |
T |
C |
17: 84,073,980 (GRCm39) |
V216A |
possibly damaging |
Het |
| Ncor1 |
C |
A |
11: 62,220,312 (GRCm39) |
G2131V |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,248,959 (GRCm39) |
H189R |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,854,372 (GRCm39) |
V256E |
possibly damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,034 (GRCm39) |
S313P |
probably benign |
Het |
| Or9k7 |
T |
A |
10: 130,046,622 (GRCm39) |
I126L |
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,144,479 (GRCm39) |
L275P |
probably damaging |
Het |
| Ptpn2 |
A |
T |
18: 67,809,041 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,438,856 (GRCm39) |
I1671T |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,481,604 (GRCm39) |
S622T |
probably benign |
Het |
| Sim1 |
C |
T |
10: 50,785,506 (GRCm39) |
R192C |
possibly damaging |
Het |
| Skor2 |
A |
G |
18: 76,948,252 (GRCm39) |
H658R |
possibly damaging |
Het |
| Slc10a5 |
A |
G |
3: 10,400,655 (GRCm39) |
S2P |
possibly damaging |
Het |
| Slc37a4 |
A |
T |
9: 44,311,331 (GRCm39) |
K207N |
possibly damaging |
Het |
| Syne2 |
G |
T |
12: 76,110,969 (GRCm39) |
V5768L |
probably benign |
Het |
| Tdpoz3 |
T |
A |
3: 93,733,772 (GRCm39) |
V149E |
probably damaging |
Het |
| Tekt5 |
T |
C |
16: 10,176,165 (GRCm39) |
N460S |
probably damaging |
Het |
| Tk2 |
G |
T |
8: 104,963,442 (GRCm39) |
Y142* |
probably null |
Het |
| Tkfc |
T |
A |
19: 10,573,630 (GRCm39) |
Q236L |
probably benign |
Het |
| Tln2 |
G |
A |
9: 67,299,814 (GRCm39) |
T148I |
probably damaging |
Het |
| Trim62 |
A |
G |
4: 128,778,021 (GRCm39) |
D20G |
probably damaging |
Het |
| Tspan14 |
A |
C |
14: 40,635,398 (GRCm39) |
V166G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,712,065 (GRCm39) |
|
probably benign |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,108 (GRCm39) |
M265L |
probably benign |
Het |
| Vmn2r117 |
C |
G |
17: 23,698,479 (GRCm39) |
Q31H |
possibly damaging |
Het |
| Zfp87 |
T |
C |
13: 74,519,861 (GRCm39) |
T406A |
possibly 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 |
144,198,479 (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 |
|
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'- AACATGTTCCCCTGTTCGG -3'
(R):5'- GCCAGCCAAGAATAGGTACTC -3'
Sequencing Primer
(F):5'- CCTGTTCGGGGTGGGGAG -3'
(R):5'- CCTCGCAGTTTATGGAGATACAGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation