Incidental Mutation 'R2982:Or1l4b'
ID |
257092 |
Institutional Source |
Beutler Lab
|
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 # |
R2982 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
37036226-37037149 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 37036393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 56
(M56I)
|
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: M56I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000100611 Gene: ENSMUSG00000078198 AA Change: M56I
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: M56I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217298
AA Change: M56I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fgfr1 |
T |
C |
8: 26,048,227 (GRCm39) |
F106L |
probably benign |
Het |
Hpse2 |
T |
A |
19: 43,373,182 (GRCm39) |
D149V |
probably null |
Het |
Hsd3b5 |
T |
A |
3: 98,527,116 (GRCm39) |
D110V |
possibly damaging |
Het |
Klhl42 |
T |
C |
6: 146,993,114 (GRCm39) |
Y29H |
probably damaging |
Het |
Klk1 |
G |
A |
7: 43,878,863 (GRCm39) |
C117Y |
probably damaging |
Het |
Mfhas1 |
T |
C |
8: 36,058,269 (GRCm39) |
Y915H |
probably benign |
Het |
Msantd2 |
A |
G |
9: 37,434,639 (GRCm39) |
Q293R |
probably damaging |
Het |
Or7a36 |
T |
C |
10: 78,820,274 (GRCm39) |
S217P |
probably damaging |
Het |
Or9g20 |
T |
A |
2: 85,629,694 (GRCm39) |
I307F |
probably benign |
Het |
Osgin1 |
T |
G |
8: 120,169,274 (GRCm39) |
L35R |
probably damaging |
Het |
Rufy1 |
C |
T |
11: 50,310,535 (GRCm39) |
R210K |
possibly damaging |
Het |
Spats2 |
T |
C |
15: 99,108,927 (GRCm39) |
S426P |
probably benign |
Het |
Tnc |
T |
A |
4: 63,938,756 (GRCm39) |
I28F |
possibly damaging |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Zfp512 |
C |
A |
5: 31,634,122 (GRCm39) |
|
probably null |
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 |
IGL03289:Or1l4b
|
APN |
2 |
37,036,590 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATTGCAGGCCAGAGGATAG -3'
(R):5'- CAGTCGATCAATGGCCATGG -3'
Sequencing Primer
(F):5'- GGATAGGAGAAACATTGTCTTGATC -3'
(R):5'- CCATGGAGGCCAGCAGGTAG -3'
|
Posted On |
2015-01-11 |