Incidental Mutation 'IGL00159:Otop3'
ID |
1106 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Otop3
|
Ensembl Gene |
ENSMUSG00000018862 |
Gene Name |
otopetrin 3 |
Synonyms |
2310011E08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
IGL00159
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115225557-115237753 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 115235223 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 285
(C285Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102153
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019006]
[ENSMUST00000044152]
[ENSMUST00000106542]
[ENSMUST00000106543]
|
AlphaFold |
Q80UF9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019006
AA Change: C304Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019006 Gene: ENSMUSG00000018862 AA Change: C304Y
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
transmembrane domain
|
102 |
120 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
142 |
483 |
3e-40 |
PFAM |
Pfam:Otopetrin
|
506 |
583 |
1.2e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000044152
|
SMART Domains |
Protein: ENSMUSP00000043789 Gene: ENSMUSG00000034586
Domain | Start | End | E-Value | Type |
Pfam:Dymeclin
|
1 |
763 |
3.9e-242 |
PFAM |
Pfam:Hid1
|
1 |
784 |
3.1e-260 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106542
|
SMART Domains |
Protein: ENSMUSP00000102152 Gene: ENSMUSG00000034586
Domain | Start | End | E-Value | Type |
Pfam:Dymeclin
|
1 |
764 |
7.5e-275 |
PFAM |
Pfam:Hid1
|
1 |
785 |
2.3e-261 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106543
AA Change: C285Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102153 Gene: ENSMUSG00000018862 AA Change: C285Y
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
transmembrane domain
|
102 |
120 |
N/A |
INTRINSIC |
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
transmembrane domain
|
178 |
195 |
N/A |
INTRINSIC |
transmembrane domain
|
208 |
227 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
241 |
462 |
2.1e-20 |
PFAM |
Pfam:Otopetrin
|
487 |
564 |
2.2e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146256
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Axin1 |
A |
T |
17: 26,361,779 (GRCm39) |
D41V |
possibly damaging |
Het |
BC034090 |
C |
A |
1: 155,101,197 (GRCm39) |
E718* |
probably null |
Het |
Cdc123 |
G |
T |
2: 5,809,746 (GRCm39) |
Q222K |
probably benign |
Het |
Clip1 |
A |
C |
5: 123,741,717 (GRCm39) |
V1053G |
possibly damaging |
Het |
Dock7 |
T |
A |
4: 98,952,222 (GRCm39) |
E416V |
probably damaging |
Het |
Dydc1 |
T |
C |
14: 40,809,370 (GRCm39) |
L143P |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,158,839 (GRCm39) |
V732A |
probably benign |
Het |
Dzip1l |
T |
A |
9: 99,519,830 (GRCm39) |
L119Q |
probably damaging |
Het |
Erp27 |
T |
A |
6: 136,886,500 (GRCm39) |
S178C |
probably damaging |
Het |
Fbn1 |
A |
G |
2: 125,239,793 (GRCm39) |
V298A |
probably benign |
Het |
Fbxo34 |
A |
G |
14: 47,766,931 (GRCm39) |
H97R |
probably damaging |
Het |
Gm20521 |
C |
T |
14: 55,122,079 (GRCm39) |
Q81* |
probably null |
Het |
Gspt1 |
T |
C |
16: 11,040,476 (GRCm39) |
M610V |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,344,964 (GRCm39) |
Q1919R |
possibly damaging |
Het |
Il19 |
A |
G |
1: 130,862,792 (GRCm39) |
|
probably benign |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,632,002 (GRCm39) |
K1309E |
possibly damaging |
Het |
Lurap1 |
T |
C |
4: 115,994,887 (GRCm39) |
T115A |
probably damaging |
Het |
Myo18b |
G |
T |
5: 113,021,997 (GRCm39) |
T465K |
probably benign |
Het |
Nwd1 |
A |
T |
8: 73,397,705 (GRCm39) |
D648V |
probably damaging |
Het |
Or13c25 |
T |
G |
4: 52,911,618 (GRCm39) |
M59L |
possibly damaging |
Het |
Or2at4 |
G |
A |
7: 99,384,524 (GRCm39) |
R58H |
probably benign |
Het |
Otof |
T |
C |
5: 30,533,248 (GRCm39) |
Y1527C |
probably damaging |
Het |
Parp3 |
A |
G |
9: 106,348,586 (GRCm39) |
I478T |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,458,069 (GRCm39) |
E265K |
possibly damaging |
Het |
Pik3c2g |
T |
C |
6: 139,841,851 (GRCm39) |
L634P |
probably damaging |
Het |
Prkg1 |
C |
A |
19: 31,279,740 (GRCm39) |
V165L |
probably benign |
Het |
Riok3 |
A |
G |
18: 12,281,948 (GRCm39) |
I306V |
possibly damaging |
Het |
Ror2 |
T |
C |
13: 53,267,118 (GRCm39) |
D439G |
probably benign |
Het |
Scn2a |
T |
A |
2: 65,573,434 (GRCm39) |
I1428N |
probably damaging |
Het |
Sgcg |
C |
T |
14: 61,469,924 (GRCm39) |
D146N |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,291,397 (GRCm39) |
|
probably null |
Het |
Slc16a9 |
A |
G |
10: 70,118,529 (GRCm39) |
R283G |
probably benign |
Het |
Sptb |
T |
C |
12: 76,668,105 (GRCm39) |
D664G |
probably benign |
Het |
Tmprss3 |
T |
A |
17: 31,413,982 (GRCm39) |
D54V |
probably damaging |
Het |
Tubd1 |
G |
T |
11: 86,456,555 (GRCm39) |
V374F |
probably benign |
Het |
Vmn2r57 |
A |
T |
7: 41,078,209 (GRCm39) |
M83K |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,853,281 (GRCm39) |
E2458G |
probably benign |
Het |
Vps35l |
G |
A |
7: 118,396,270 (GRCm39) |
|
probably null |
Het |
Zhx2 |
A |
T |
15: 57,686,266 (GRCm39) |
E545V |
probably damaging |
Het |
|
Other mutations in Otop3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00094:Otop3
|
APN |
11 |
115,235,279 (GRCm39) |
missense |
probably benign |
|
IGL01372:Otop3
|
APN |
11 |
115,235,930 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01380:Otop3
|
APN |
11 |
115,237,237 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01960:Otop3
|
APN |
11 |
115,231,795 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03099:Otop3
|
APN |
11 |
115,230,408 (GRCm39) |
missense |
probably damaging |
0.99 |
F5770:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R1560:Otop3
|
UTSW |
11 |
115,235,289 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2847:Otop3
|
UTSW |
11 |
115,235,384 (GRCm39) |
missense |
probably damaging |
0.99 |
R2849:Otop3
|
UTSW |
11 |
115,235,384 (GRCm39) |
missense |
probably damaging |
0.99 |
R5582:Otop3
|
UTSW |
11 |
115,230,165 (GRCm39) |
missense |
unknown |
|
R6383:Otop3
|
UTSW |
11 |
115,235,898 (GRCm39) |
missense |
probably damaging |
0.99 |
R6601:Otop3
|
UTSW |
11 |
115,230,673 (GRCm39) |
missense |
probably damaging |
0.98 |
R7001:Otop3
|
UTSW |
11 |
115,230,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R7339:Otop3
|
UTSW |
11 |
115,237,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R7487:Otop3
|
UTSW |
11 |
115,235,826 (GRCm39) |
missense |
probably benign |
|
R7609:Otop3
|
UTSW |
11 |
115,230,546 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7639:Otop3
|
UTSW |
11 |
115,235,187 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7643:Otop3
|
UTSW |
11 |
115,230,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R7820:Otop3
|
UTSW |
11 |
115,230,414 (GRCm39) |
missense |
probably damaging |
0.99 |
R8044:Otop3
|
UTSW |
11 |
115,237,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R8110:Otop3
|
UTSW |
11 |
115,230,221 (GRCm39) |
missense |
probably benign |
|
R8281:Otop3
|
UTSW |
11 |
115,235,901 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8556:Otop3
|
UTSW |
11 |
115,235,782 (GRCm39) |
missense |
probably benign |
0.00 |
R8899:Otop3
|
UTSW |
11 |
115,231,886 (GRCm39) |
critical splice donor site |
probably null |
|
R9137:Otop3
|
UTSW |
11 |
115,235,868 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9165:Otop3
|
UTSW |
11 |
115,235,424 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9306:Otop3
|
UTSW |
11 |
115,237,248 (GRCm39) |
missense |
probably benign |
0.09 |
R9788:Otop3
|
UTSW |
11 |
115,235,087 (GRCm39) |
missense |
unknown |
|
V7580:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
V7581:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
V7582:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
V7583:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Otop3
|
UTSW |
11 |
115,230,693 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Otop3
|
UTSW |
11 |
115,231,838 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Otop3
|
UTSW |
11 |
115,230,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2011-07-12 |