Incidental Mutation 'R7888:Or1l4b'
| ID |
609145 |
| 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 |
| MMRRC Submission |
045940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R7888 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37036226-37037149 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37036334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 37
(M37L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000104995]
[ENSMUST00000214905]
[ENSMUST00000217298]
|
| AlphaFold |
A0A140T8Q2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000104995
AA Change: M37L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100611
Gene: ENSMUSG00000078198
AA Change: M37L
| 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 benign
Transcript: ENSMUST00000214905
AA Change: M37L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217298
AA Change: M37L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
G |
T |
14: 8,246,415 (GRCm38) |
Q459K |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,496,773 (GRCm39) |
Y792F |
probably damaging |
Het |
| Aoc3 |
C |
T |
11: 101,223,323 (GRCm39) |
H520Y |
probably damaging |
Het |
| Atp4b |
A |
G |
8: 13,439,811 (GRCm39) |
F137S |
probably damaging |
Het |
| Blvrb |
A |
G |
7: 27,165,159 (GRCm39) |
T160A |
probably damaging |
Het |
| Brd2 |
G |
A |
17: 34,335,995 (GRCm39) |
R73W |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,943,036 (GRCm39) |
T306A |
probably benign |
Het |
| Ccdc154 |
G |
A |
17: 25,383,578 (GRCm39) |
V212M |
possibly damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,119,967 (GRCm39) |
E3G |
unknown |
Het |
| Cenpb |
T |
A |
2: 131,021,762 (GRCm39) |
E12V |
probably damaging |
Het |
| Cnot8 |
T |
C |
11: 58,002,137 (GRCm39) |
S57P |
probably benign |
Het |
| Cryba4 |
T |
C |
5: 112,398,918 (GRCm39) |
E42G |
probably benign |
Het |
| Fam72a |
T |
A |
1: 131,456,578 (GRCm39) |
I47N |
probably damaging |
Het |
| Gm27027 |
A |
C |
2: 93,787,880 (GRCm39) |
|
probably null |
Het |
| Itgb2 |
T |
C |
10: 77,400,478 (GRCm39) |
V697A |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,262,208 (GRCm39) |
N336D |
probably damaging |
Het |
| Kansl1 |
T |
C |
11: 104,233,248 (GRCm39) |
T760A |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,392,307 (GRCm39) |
E1039D |
probably benign |
Het |
| Meaf6 |
T |
G |
4: 125,003,213 (GRCm39) |
|
probably null |
Het |
| Mpz |
T |
C |
1: 170,987,204 (GRCm39) |
|
probably null |
Het |
| Mtss1 |
A |
T |
15: 58,844,373 (GRCm39) |
M82K |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,203,947 (GRCm39) |
S1063P |
probably damaging |
Het |
| Niban2 |
T |
A |
2: 32,812,137 (GRCm39) |
Y406* |
probably null |
Het |
| Nsun6 |
T |
A |
2: 15,001,355 (GRCm39) |
E400D |
probably benign |
Het |
| Or10al5 |
A |
T |
17: 38,062,888 (GRCm39) |
N48Y |
probably damaging |
Het |
| Or1e26 |
T |
C |
11: 73,480,354 (GRCm39) |
D70G |
probably damaging |
Het |
| Or2t26 |
T |
C |
11: 49,039,266 (GRCm39) |
Y61H |
probably damaging |
Het |
| Or52ae7 |
T |
A |
7: 103,120,006 (GRCm39) |
Y253* |
probably null |
Het |
| Or5au1 |
A |
G |
14: 52,273,347 (GRCm39) |
S74P |
probably damaging |
Het |
| Or8j3b |
C |
A |
2: 86,205,270 (GRCm39) |
C162F |
probably benign |
Het |
| Pfdn5 |
T |
A |
15: 102,237,024 (GRCm39) |
V92E |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,842,470 (GRCm39) |
V801A |
|
Het |
| Psme2b |
T |
A |
11: 48,836,402 (GRCm39) |
T182S |
possibly damaging |
Het |
| Ptcd3 |
G |
A |
6: 71,860,431 (GRCm39) |
A592V |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,427,319 (GRCm39) |
Y633* |
probably null |
Het |
| Rnf39 |
A |
T |
17: 37,258,133 (GRCm39) |
T222S |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,342,878 (GRCm39) |
N277S |
probably damaging |
Het |
| Slc16a13 |
T |
G |
11: 70,109,806 (GRCm39) |
I232L |
possibly damaging |
Het |
| Slco2b1 |
T |
G |
7: 99,338,050 (GRCm39) |
R111S |
unknown |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Tmc3 |
T |
C |
7: 83,249,217 (GRCm39) |
W269R |
probably damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,313,943 (GRCm39) |
E346G |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,184,725 (GRCm39) |
N666S |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,812,920 (GRCm39) |
D1618N |
|
Het |
| Zfp773 |
C |
A |
7: 7,135,978 (GRCm39) |
C206F |
probably benign |
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 |
|
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 |
|
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'- GATTTCATTGCAGGCCAGAGG -3'
(R):5'- ATCCGTGTTTGCTAATGCTATGAAG -3'
Sequencing Primer
(F):5'- TTTCATTGCAGGCCAGAGGATAGG -3'
(R):5'- GAAGTACATCTGAACTAGGCATCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation