Incidental Mutation 'R2057:Ano1'
ID |
228263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano1
|
Ensembl Gene |
ENSMUSG00000031075 |
Gene Name |
anoctamin 1, calcium activated chloride channel |
Synonyms |
Tmem16a |
MMRRC Submission |
040062-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2057 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
144142286-144305711 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 144201789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 334
(V334A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033393]
[ENSMUST00000118556]
[ENSMUST00000121758]
[ENSMUST00000155175]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033393
AA Change: V276A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000033393 Gene: ENSMUSG00000031075 AA Change: V276A
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: V334A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113899 Gene: ENSMUSG00000031075 AA Change: V334A
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: V333A
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112616 Gene: ENSMUSG00000031075 AA Change: V333A
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: V163A
|
SMART Domains |
Protein: ENSMUSP00000119653 Gene: ENSMUSG00000031075 AA Change: V163A
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 benign
Transcript: ENSMUST00000155175
|
SMART Domains |
Protein: ENSMUSP00000120306 Gene: ENSMUSG00000031075
Domain | Start | End | E-Value | Type |
low complexity region
|
153 |
171 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208985
|
Meta Mutation Damage Score |
0.3632 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,806,477 (GRCm39) |
K764E |
probably damaging |
Het |
Abcg2 |
T |
C |
6: 58,667,525 (GRCm39) |
V129A |
probably benign |
Het |
Adgrf5 |
A |
G |
17: 43,739,477 (GRCm39) |
Y72C |
possibly damaging |
Het |
Ago1 |
C |
T |
4: 126,337,021 (GRCm39) |
R228H |
probably damaging |
Het |
Apob |
A |
T |
12: 8,052,164 (GRCm39) |
R1202* |
probably null |
Het |
Arfgap3 |
G |
T |
15: 83,194,501 (GRCm39) |
D389E |
probably benign |
Het |
Atf6b |
A |
T |
17: 34,867,549 (GRCm39) |
|
probably null |
Het |
Atoh8 |
T |
C |
6: 72,212,112 (GRCm39) |
K13E |
probably damaging |
Het |
Bicral |
G |
T |
17: 47,135,814 (GRCm39) |
N465K |
possibly damaging |
Het |
Bves |
T |
A |
10: 45,219,231 (GRCm39) |
Y110N |
probably damaging |
Het |
C4b |
A |
G |
17: 34,947,594 (GRCm39) |
Y1695H |
probably damaging |
Het |
Cage1 |
A |
G |
13: 38,207,356 (GRCm39) |
V163A |
probably benign |
Het |
Canx |
T |
C |
11: 50,195,252 (GRCm39) |
N272S |
probably damaging |
Het |
Caskin1 |
G |
T |
17: 24,715,433 (GRCm39) |
G93V |
probably damaging |
Het |
Cd34 |
T |
C |
1: 194,641,450 (GRCm39) |
V292A |
probably damaging |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdh16 |
C |
A |
8: 105,348,597 (GRCm39) |
G144* |
probably null |
Het |
Chaf1b |
T |
A |
16: 93,691,795 (GRCm39) |
H280Q |
probably damaging |
Het |
Chpf2 |
G |
A |
5: 24,796,220 (GRCm39) |
G389R |
probably damaging |
Het |
Crb1 |
T |
C |
1: 139,242,488 (GRCm39) |
Y330C |
probably damaging |
Het |
Cux2 |
A |
T |
5: 122,007,567 (GRCm39) |
V698E |
probably benign |
Het |
Dhtkd1 |
A |
G |
2: 5,947,430 (GRCm39) |
V18A |
unknown |
Het |
Dmbt1 |
G |
A |
7: 130,707,900 (GRCm39) |
A1381T |
possibly damaging |
Het |
Enpp1 |
C |
G |
10: 24,536,090 (GRCm39) |
A437P |
probably damaging |
Het |
Fat2 |
C |
T |
11: 55,172,686 (GRCm39) |
V2676I |
possibly damaging |
Het |
Fzd2 |
A |
G |
11: 102,496,759 (GRCm39) |
D401G |
probably damaging |
Het |
Gcm2 |
T |
C |
13: 41,263,430 (GRCm39) |
M1V |
probably null |
Het |
Gnai3 |
C |
T |
3: 108,019,812 (GRCm39) |
V233I |
probably benign |
Het |
Golim4 |
T |
A |
3: 75,802,194 (GRCm39) |
D366V |
possibly damaging |
Het |
Grin1 |
T |
A |
2: 25,206,832 (GRCm39) |
T110S |
probably damaging |
Het |
Grin2a |
A |
G |
16: 9,487,608 (GRCm39) |
V430A |
probably benign |
Het |
Gstp3 |
G |
A |
19: 4,109,282 (GRCm39) |
T5I |
probably damaging |
Het |
Il17rb |
T |
A |
14: 29,719,111 (GRCm39) |
M324L |
probably benign |
Het |
Jmy |
A |
G |
13: 93,596,211 (GRCm39) |
Y473H |
probably damaging |
Het |
Khdc1b |
A |
G |
1: 21,454,534 (GRCm39) |
D79G |
probably benign |
Het |
Kremen2 |
T |
C |
17: 23,961,691 (GRCm39) |
E272G |
possibly damaging |
Het |
Lmo7 |
G |
C |
14: 102,124,614 (GRCm39) |
A358P |
probably damaging |
Het |
Mdh1b |
T |
C |
1: 63,760,741 (GRCm39) |
I107V |
probably benign |
Het |
Mlkl |
T |
C |
8: 112,060,242 (GRCm39) |
Q48R |
probably benign |
Het |
Myh2 |
G |
A |
11: 67,079,665 (GRCm39) |
|
probably null |
Het |
Naip1 |
T |
A |
13: 100,562,081 (GRCm39) |
Q1028L |
probably damaging |
Het |
Ncald |
T |
A |
15: 37,397,423 (GRCm39) |
I86F |
possibly damaging |
Het |
Nid1 |
A |
C |
13: 13,675,058 (GRCm39) |
H926P |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,256,787 (GRCm39) |
I46K |
possibly damaging |
Het |
Or1p1 |
A |
G |
11: 74,179,652 (GRCm39) |
Y60C |
probably damaging |
Het |
Or9r3 |
A |
T |
10: 129,947,859 (GRCm39) |
S267T |
probably benign |
Het |
Pak1 |
T |
A |
7: 97,557,004 (GRCm39) |
|
probably null |
Het |
Parpbp |
T |
A |
10: 87,960,824 (GRCm39) |
M221L |
probably benign |
Het |
Pde12 |
T |
C |
14: 26,390,035 (GRCm39) |
I225V |
probably benign |
Het |
Phf19 |
G |
T |
2: 34,789,620 (GRCm39) |
R367S |
probably benign |
Het |
Plcl2 |
A |
G |
17: 50,975,139 (GRCm39) |
|
probably null |
Het |
Plxnb1 |
A |
T |
9: 108,938,294 (GRCm39) |
I1283F |
possibly damaging |
Het |
Pramel6 |
T |
A |
2: 87,339,059 (GRCm39) |
N86K |
possibly damaging |
Het |
Prkdc |
A |
G |
16: 15,545,469 (GRCm39) |
T1862A |
probably benign |
Het |
Prpf40a |
A |
T |
2: 53,034,851 (GRCm39) |
I779K |
probably damaging |
Het |
Prss3b |
G |
A |
6: 41,009,315 (GRCm39) |
T173I |
probably benign |
Het |
Ptpn20 |
A |
T |
14: 33,352,942 (GRCm39) |
E227V |
probably damaging |
Het |
Rad54b |
C |
T |
4: 11,606,088 (GRCm39) |
R499C |
probably benign |
Het |
Rarg |
C |
A |
15: 102,147,939 (GRCm39) |
A291S |
probably damaging |
Het |
Rnf169 |
A |
T |
7: 99,574,615 (GRCm39) |
L660Q |
probably damaging |
Het |
Scn4a |
A |
G |
11: 106,226,550 (GRCm39) |
V670A |
probably damaging |
Het |
Serpinb9c |
A |
T |
13: 33,340,854 (GRCm39) |
C81* |
probably null |
Het |
Sik1 |
A |
G |
17: 32,067,771 (GRCm39) |
S435P |
probably benign |
Het |
Slc35g2 |
G |
A |
9: 100,435,329 (GRCm39) |
A114V |
probably damaging |
Het |
Slc7a14 |
A |
T |
3: 31,291,645 (GRCm39) |
V211E |
probably damaging |
Het |
Snrpn |
A |
T |
7: 59,637,204 (GRCm39) |
H37Q |
possibly damaging |
Het |
Spock3 |
T |
A |
8: 63,698,204 (GRCm39) |
C185* |
probably null |
Het |
Tbc1d4 |
A |
G |
14: 101,714,591 (GRCm39) |
S627P |
probably damaging |
Het |
Tgoln1 |
T |
C |
6: 72,592,653 (GRCm39) |
T276A |
probably benign |
Het |
Tmem176b |
G |
A |
6: 48,813,267 (GRCm39) |
T64I |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,776,742 (GRCm39) |
L483P |
probably damaging |
Het |
Tpte |
T |
A |
8: 22,808,355 (GRCm39) |
D163E |
probably benign |
Het |
Trim36 |
A |
T |
18: 46,329,229 (GRCm39) |
D70E |
probably benign |
Het |
Umodl1 |
G |
A |
17: 31,227,740 (GRCm39) |
|
probably null |
Het |
Wdr90 |
T |
C |
17: 26,074,173 (GRCm39) |
T691A |
probably benign |
Het |
Zdhhc8 |
A |
G |
16: 18,046,210 (GRCm39) |
S118P |
probably damaging |
Het |
Zfp438 |
T |
C |
18: 5,214,085 (GRCm39) |
E291G |
probably benign |
Het |
Zfp879 |
C |
T |
11: 50,723,428 (GRCm39) |
E543K |
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 |
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'- AGCCAAAACTGCCCTGTGTG -3'
(R):5'- AGTGGATAGCTAACTCGCCC -3'
Sequencing Primer
(F):5'- AAAACTGCCCTGTGTGTGACTTTTC -3'
(R):5'- GATAGCTAACTCGCCCTGCTG -3'
|
Posted On |
2014-09-17 |