Incidental Mutation 'IGL03289:Or1l4b'
ID |
415816 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or1l4b
|
Ensembl Gene |
ENSMUSG00000078198 |
Gene Name |
olfactory receptor family 1 subfamily L member 4B |
Synonyms |
MOR138-4P, Olfr364, MOR138-7, GA_x6K02T2NLDC-33831282-33832243 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL03289
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
37036226-37037149 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 37036590 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 122
(A122V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151166
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000104995]
[ENSMUST00000214905]
[ENSMUST00000217298]
|
AlphaFold |
A0A140T8Q2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000104995
AA Change: A122V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100611 Gene: ENSMUSG00000078198 AA Change: A122V
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
28 |
303 |
4.8e-58 |
PFAM |
Pfam:7tm_1
|
38 |
287 |
5e-24 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214905
AA Change: A122V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217298
AA Change: A122V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap10 |
A |
G |
11: 61,768,794 (GRCm39) |
|
probably benign |
Het |
Akap9 |
A |
G |
5: 4,127,261 (GRCm39) |
Y3703C |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,326,995 (GRCm39) |
V728A |
probably benign |
Het |
B3galt2 |
T |
C |
1: 143,523,042 (GRCm39) |
Y393H |
probably damaging |
Het |
Clcn4 |
T |
A |
7: 7,287,257 (GRCm39) |
I664F |
probably damaging |
Het |
Clec2e |
A |
T |
6: 129,075,418 (GRCm39) |
I41N |
probably damaging |
Het |
Col2a1 |
A |
T |
15: 97,878,762 (GRCm39) |
N845K |
unknown |
Het |
Cubn |
T |
G |
2: 13,431,778 (GRCm39) |
I1272L |
probably benign |
Het |
Dnajc5 |
T |
C |
2: 181,189,260 (GRCm39) |
Y79H |
probably damaging |
Het |
Eml6 |
G |
T |
11: 29,745,328 (GRCm39) |
A1006E |
possibly damaging |
Het |
Igsf5 |
A |
T |
16: 96,326,632 (GRCm39) |
D271V |
possibly damaging |
Het |
Kalrn |
G |
A |
16: 34,205,667 (GRCm39) |
A70V |
possibly damaging |
Het |
Kcnn2 |
A |
T |
18: 45,810,111 (GRCm39) |
K309N |
probably damaging |
Het |
Lrch4 |
T |
C |
5: 137,631,839 (GRCm39) |
S22P |
probably damaging |
Het |
Mcpt2 |
A |
T |
14: 56,281,794 (GRCm39) |
I215F |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,313,634 (GRCm39) |
|
probably null |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Osbp2 |
A |
G |
11: 3,813,380 (GRCm39) |
V163A |
probably benign |
Het |
Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
Scart1 |
T |
C |
7: 139,808,973 (GRCm39) |
|
probably null |
Het |
Senp1 |
G |
T |
15: 97,982,926 (GRCm39) |
H20Q |
probably damaging |
Het |
Slc16a6 |
A |
G |
11: 109,354,325 (GRCm39) |
Y31H |
probably damaging |
Het |
Thbs2 |
T |
A |
17: 14,910,384 (GRCm39) |
N72Y |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,343,818 (GRCm39) |
S1366T |
possibly damaging |
Het |
Vmn1r216 |
T |
A |
13: 23,284,182 (GRCm39) |
D288E |
possibly damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,196,788 (GRCm39) |
|
probably benign |
Het |
Vnn3 |
A |
T |
10: 23,741,735 (GRCm39) |
S347C |
possibly damaging |
Het |
Yme1l1 |
T |
C |
2: 23,050,280 (GRCm39) |
V37A |
probably benign |
Het |
Zfp597 |
A |
T |
16: 3,683,786 (GRCm39) |
D323E |
possibly damaging |
Het |
|
Other mutations in Or1l4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00264:Or1l4b
|
APN |
2 |
37,037,079 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01550:Or1l4b
|
APN |
2 |
37,036,986 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01791:Or1l4b
|
APN |
2 |
37,036,548 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01886:Or1l4b
|
APN |
2 |
37,036,521 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02680:Or1l4b
|
APN |
2 |
37,036,427 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03003:Or1l4b
|
APN |
2 |
37,036,464 (GRCm39) |
missense |
probably benign |
0.00 |
R0627:Or1l4b
|
UTSW |
2 |
37,036,342 (GRCm39) |
missense |
probably damaging |
0.96 |
R1163:Or1l4b
|
UTSW |
2 |
37,037,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R1253:Or1l4b
|
UTSW |
2 |
37,036,884 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1340:Or1l4b
|
UTSW |
2 |
37,036,769 (GRCm39) |
missense |
probably benign |
0.03 |
R1542:Or1l4b
|
UTSW |
2 |
37,036,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R1633:Or1l4b
|
UTSW |
2 |
37,036,983 (GRCm39) |
missense |
probably damaging |
0.99 |
R2935:Or1l4b
|
UTSW |
2 |
37,037,123 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2982:Or1l4b
|
UTSW |
2 |
37,036,393 (GRCm39) |
missense |
probably damaging |
0.99 |
R3855:Or1l4b
|
UTSW |
2 |
37,036,835 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4849:Or1l4b
|
UTSW |
2 |
37,036,266 (GRCm39) |
missense |
probably damaging |
0.97 |
R4903:Or1l4b
|
UTSW |
2 |
37,036,383 (GRCm39) |
missense |
probably benign |
0.35 |
R5160:Or1l4b
|
UTSW |
2 |
37,036,815 (GRCm39) |
missense |
probably benign |
0.03 |
R7092:Or1l4b
|
UTSW |
2 |
37,036,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R7108:Or1l4b
|
UTSW |
2 |
37,036,272 (GRCm39) |
missense |
probably benign |
0.00 |
R7143:Or1l4b
|
UTSW |
2 |
37,036,886 (GRCm39) |
missense |
probably benign |
0.00 |
R7278:Or1l4b
|
UTSW |
2 |
37,037,021 (GRCm39) |
missense |
probably benign |
0.29 |
R7630:Or1l4b
|
UTSW |
2 |
37,036,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R7754:Or1l4b
|
UTSW |
2 |
37,036,858 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7888:Or1l4b
|
UTSW |
2 |
37,036,334 (GRCm39) |
missense |
probably benign |
|
R8342:Or1l4b
|
UTSW |
2 |
37,036,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R8768:Or1l4b
|
UTSW |
2 |
37,037,016 (GRCm39) |
missense |
probably benign |
0.02 |
R9063:Or1l4b
|
UTSW |
2 |
37,036,646 (GRCm39) |
missense |
probably benign |
|
R9079:Or1l4b
|
UTSW |
2 |
37,036,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R9086:Or1l4b
|
UTSW |
2 |
37,036,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R9091:Or1l4b
|
UTSW |
2 |
37,037,047 (GRCm39) |
missense |
probably benign |
0.05 |
R9270:Or1l4b
|
UTSW |
2 |
37,037,047 (GRCm39) |
missense |
probably benign |
0.05 |
R9668:Or1l4b
|
UTSW |
2 |
37,036,518 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1088:Or1l4b
|
UTSW |
2 |
37,036,397 (GRCm39) |
missense |
probably benign |
0.09 |
|
Posted On |
2016-08-02 |