Incidental Mutation 'R1138:Oacyl'
| ID |
95325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oacyl
|
| Ensembl Gene |
ENSMUSG00000046610 |
| Gene Name |
O-acyltransferase like |
| Synonyms |
5330437I02Rik |
| MMRRC Submission |
039211-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R1138 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
65831339-65884672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65858521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 209
(L209Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115097]
[ENSMUST00000117694]
|
| AlphaFold |
Q8BML2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115097
AA Change: L282Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110749
Gene: ENSMUSG00000046610
AA Change: L282Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
NRF
|
24 |
145 |
3.58e-13 |
SMART |
|
Blast:NRF
|
152 |
191 |
1e-6 |
BLAST |
|
Pfam:Acyl_transf_3
|
274 |
664 |
6.8e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117694
AA Change: L209Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113626
Gene: ENSMUSG00000046610
AA Change: L209Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Blast:NRF
|
24 |
118 |
4e-14 |
BLAST |
|
Pfam:Acyl_transf_3
|
201 |
591 |
6.7e-23 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,967,497 (GRCm39) |
N974K |
probably benign |
Het |
| Brd8dc |
C |
T |
18: 34,713,297 (GRCm39) |
V258I |
probably benign |
Het |
| Bub1b |
C |
T |
2: 118,453,570 (GRCm39) |
T467I |
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,440,545 (GRCm39) |
Y173H |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,670,140 (GRCm39) |
D526G |
probably benign |
Het |
| Dnajc22 |
AGACACT |
A |
15: 99,002,308 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,391,224 (GRCm39) |
N920S |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,542,011 (GRCm39) |
|
probably null |
Het |
| Hpgd |
G |
A |
8: 56,760,712 (GRCm39) |
M136I |
probably benign |
Het |
| Igfbp2 |
A |
G |
1: 72,888,257 (GRCm39) |
D133G |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,591,993 (GRCm39) |
M642T |
probably damaging |
Het |
| Map7d1 |
T |
C |
4: 126,135,912 (GRCm39) |
T99A |
possibly damaging |
Het |
| Mfsd4b5 |
C |
T |
10: 39,851,150 (GRCm39) |
C35Y |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,412,262 (GRCm39) |
N2570K |
possibly damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,434 (GRCm39) |
I71V |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,006 (GRCm39) |
N3218K |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,761,234 (GRCm39) |
N46S |
possibly damaging |
Het |
| Sh2d3c |
G |
T |
2: 32,639,417 (GRCm39) |
R349L |
probably benign |
Het |
| Siae |
G |
A |
9: 37,553,988 (GRCm39) |
R366H |
probably damaging |
Het |
| Tmem108 |
T |
C |
9: 103,376,168 (GRCm39) |
N427S |
possibly damaging |
Het |
|
| Other mutations in Oacyl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Oacyl
|
APN |
18 |
65,882,711 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL00972:Oacyl
|
APN |
18 |
65,858,572 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01970:Oacyl
|
APN |
18 |
65,882,785 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02030:Oacyl
|
APN |
18 |
65,870,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02706:Oacyl
|
APN |
18 |
65,882,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0529:Oacyl
|
UTSW |
18 |
65,875,290 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0607:Oacyl
|
UTSW |
18 |
65,880,962 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0724:Oacyl
|
UTSW |
18 |
65,870,896 (GRCm39) |
splice site |
probably benign |
|
|
R1482:Oacyl
|
UTSW |
18 |
65,871,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1551:Oacyl
|
UTSW |
18 |
65,875,280 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1649:Oacyl
|
UTSW |
18 |
65,883,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Oacyl
|
UTSW |
18 |
65,843,618 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4271:Oacyl
|
UTSW |
18 |
65,871,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Oacyl
|
UTSW |
18 |
65,883,253 (GRCm39) |
missense |
probably benign |
|
|
R5525:Oacyl
|
UTSW |
18 |
65,878,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5879:Oacyl
|
UTSW |
18 |
65,882,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6132:Oacyl
|
UTSW |
18 |
65,859,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6367:Oacyl
|
UTSW |
18 |
65,858,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Oacyl
|
UTSW |
18 |
65,855,609 (GRCm39) |
nonsense |
probably null |
|
|
R7097:Oacyl
|
UTSW |
18 |
65,853,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7122:Oacyl
|
UTSW |
18 |
65,853,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7132:Oacyl
|
UTSW |
18 |
65,831,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Oacyl
|
UTSW |
18 |
65,831,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7403:Oacyl
|
UTSW |
18 |
65,870,966 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7501:Oacyl
|
UTSW |
18 |
65,858,369 (GRCm39) |
splice site |
probably null |
|
|
R7759:Oacyl
|
UTSW |
18 |
65,843,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7892:Oacyl
|
UTSW |
18 |
65,870,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7921:Oacyl
|
UTSW |
18 |
65,858,454 (GRCm39) |
missense |
probably benign |
|
|
R7977:Oacyl
|
UTSW |
18 |
65,831,462 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7987:Oacyl
|
UTSW |
18 |
65,831,462 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9065:Oacyl
|
UTSW |
18 |
65,840,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9318:Oacyl
|
UTSW |
18 |
65,858,415 (GRCm39) |
missense |
probably benign |
|
|
R9561:Oacyl
|
UTSW |
18 |
65,831,414 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9609:Oacyl
|
UTSW |
18 |
65,843,599 (GRCm39) |
missense |
probably benign |
|
|
R9613:Oacyl
|
UTSW |
18 |
65,864,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9747:Oacyl
|
UTSW |
18 |
65,880,962 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1177:Oacyl
|
UTSW |
18 |
65,858,418 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCAAAGGTCAGGTATGAGAGCCC -3'
(R):5'- GGAACCTTGGCATATGAGGTCACAC -3'
Sequencing Primer
(F):5'- CAGTACAGGTTTTGATTGAGCATCC -3'
(R):5'- CTCAGCATGTCTCTAGAACAGAAGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation