Incidental Mutation 'R6584:Ogfrl1'
| ID |
524256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ogfrl1
|
| Ensembl Gene |
ENSMUSG00000026158 |
| Gene Name |
opioid growth factor receptor-like 1 |
| Synonyms |
2210417C17Rik |
| MMRRC Submission |
044708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R6584 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
23405505-23422282 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 23408944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 427
(K427N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027343]
[ENSMUST00000188677]
|
| AlphaFold |
Q8VE52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027343
AA Change: K427N
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000027343
Gene: ENSMUSG00000026158
AA Change: K427N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
86 |
N/A |
INTRINSIC |
|
Pfam:OGFr_N
|
114 |
320 |
1.7e-104 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188677
|
| SMART Domains |
Protein: ENSMUSP00000139453
Gene: ENSMUSG00000026158
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OGFr_N
|
1 |
92 |
1.6e-38 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agr2 |
G |
A |
12: 36,045,625 (GRCm39) |
R37Q |
probably benign |
Het |
| Amfr |
T |
C |
8: 94,700,783 (GRCm39) |
D559G |
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,624,254 (GRCm39) |
Y711C |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,696,128 (GRCm39) |
N1122D |
possibly damaging |
Het |
| Clgn |
T |
C |
8: 84,126,665 (GRCm39) |
I122T |
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,645,293 (GRCm39) |
F180Y |
probably damaging |
Het |
| Fbxw14 |
C |
G |
9: 109,115,611 (GRCm39) |
C53S |
possibly damaging |
Het |
| Ifna9 |
A |
G |
4: 88,510,375 (GRCm39) |
L83P |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,920,137 (GRCm39) |
C1401R |
probably damaging |
Het |
| Il22 |
A |
T |
10: 118,040,932 (GRCm39) |
M13L |
probably benign |
Het |
| Il9r |
A |
G |
11: 32,141,782 (GRCm39) |
Y319H |
probably benign |
Het |
| Itgb5 |
T |
C |
16: 33,705,400 (GRCm39) |
F230S |
probably damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,703,935 (GRCm39) |
I26N |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,571,883 (GRCm39) |
R300C |
probably damaging |
Het |
| Map3k4 |
A |
C |
17: 12,479,378 (GRCm39) |
Y730D |
probably damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Paxip1 |
G |
A |
5: 27,963,450 (GRCm39) |
H792Y |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,136,043 (GRCm39) |
S621P |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,382,040 (GRCm39) |
T219S |
possibly damaging |
Het |
| Slitrk3 |
C |
A |
3: 72,956,558 (GRCm39) |
G738V |
probably damaging |
Het |
| Smurf1 |
T |
C |
5: 144,819,333 (GRCm39) |
D598G |
probably damaging |
Het |
| St6galnac2 |
A |
G |
11: 116,585,330 (GRCm39) |
S19P |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,869,635 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
C |
A |
8: 83,987,629 (GRCm39) |
Q863K |
probably damaging |
Het |
| Traf1 |
T |
A |
2: 34,848,070 (GRCm39) |
D8V |
probably damaging |
Het |
| Vmn2r24 |
T |
G |
6: 123,792,764 (GRCm39) |
M697R |
possibly damaging |
Het |
| Wdr27 |
T |
A |
17: 15,122,031 (GRCm39) |
Y625F |
probably damaging |
Het |
| Wdr49 |
T |
C |
3: 75,245,065 (GRCm39) |
M339V |
probably benign |
Het |
|
| Other mutations in Ogfrl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Ogfrl1
|
APN |
1 |
23,409,171 (GRCm39) |
missense |
probably benign |
|
|
IGL02200:Ogfrl1
|
APN |
1 |
23,409,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4508001:Ogfrl1
|
UTSW |
1 |
23,409,351 (GRCm39) |
nonsense |
probably null |
|
|
R0012:Ogfrl1
|
UTSW |
1 |
23,409,206 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0735:Ogfrl1
|
UTSW |
1 |
23,414,835 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1474:Ogfrl1
|
UTSW |
1 |
23,414,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3837:Ogfrl1
|
UTSW |
1 |
23,409,041 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4037:Ogfrl1
|
UTSW |
1 |
23,418,045 (GRCm39) |
splice site |
probably benign |
|
|
R4039:Ogfrl1
|
UTSW |
1 |
23,418,045 (GRCm39) |
splice site |
probably benign |
|
|
R4332:Ogfrl1
|
UTSW |
1 |
23,414,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Ogfrl1
|
UTSW |
1 |
23,409,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5056:Ogfrl1
|
UTSW |
1 |
23,418,130 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5994:Ogfrl1
|
UTSW |
1 |
23,418,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Ogfrl1
|
UTSW |
1 |
23,415,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6340:Ogfrl1
|
UTSW |
1 |
23,408,944 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6341:Ogfrl1
|
UTSW |
1 |
23,408,944 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6342:Ogfrl1
|
UTSW |
1 |
23,408,944 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6343:Ogfrl1
|
UTSW |
1 |
23,408,944 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6363:Ogfrl1
|
UTSW |
1 |
23,409,194 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6586:Ogfrl1
|
UTSW |
1 |
23,408,944 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7419:Ogfrl1
|
UTSW |
1 |
23,422,063 (GRCm39) |
nonsense |
probably null |
|
|
R8364:Ogfrl1
|
UTSW |
1 |
23,414,824 (GRCm39) |
nonsense |
probably null |
|
|
R8749:Ogfrl1
|
UTSW |
1 |
23,409,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9539:Ogfrl1
|
UTSW |
1 |
23,415,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCAGGACACATTAGAAAGCAG -3'
(R):5'- ATTTCCCCAGGAGCTAGTCAC -3'
Sequencing Primer
(F):5'- GCATTTTGCTGTGCCAC -3'
(R):5'- CCCAGGAGCTAGTCACGTAAATAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation