Incidental Mutation 'IGL02030:Oacyl'
| ID |
184337 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Oacyl
|
| Ensembl Gene |
ENSMUSG00000046610 |
| Gene Name |
O-acyltransferase like |
| Synonyms |
5330437I02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL02030
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
65831339-65884672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65870981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 394
(V394A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115097]
[ENSMUST00000117694]
|
| AlphaFold |
Q8BML2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115097
AA Change: V394A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110749
Gene: ENSMUSG00000046610
AA Change: V394A
| 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: V321A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113626
Gene: ENSMUSG00000046610
AA Change: V321A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
C |
8: 44,021,894 (GRCm39) |
D532G |
probably benign |
Het |
| Adam29 |
C |
T |
8: 56,325,157 (GRCm39) |
M432I |
probably benign |
Het |
| Cbs |
A |
G |
17: 31,844,463 (GRCm39) |
|
probably null |
Het |
| Ccer1 |
A |
G |
10: 97,529,472 (GRCm39) |
Y45C |
unknown |
Het |
| Clu |
G |
A |
14: 66,213,240 (GRCm39) |
G209S |
probably benign |
Het |
| Ddx17 |
T |
C |
15: 79,414,577 (GRCm39) |
D530G |
probably benign |
Het |
| Ddx4 |
T |
C |
13: 112,761,311 (GRCm39) |
|
probably benign |
Het |
| Fry |
C |
T |
5: 150,395,083 (GRCm39) |
|
probably benign |
Het |
| Fut10 |
C |
T |
8: 31,726,006 (GRCm39) |
Q254* |
probably null |
Het |
| Gucy2e |
A |
G |
11: 69,114,642 (GRCm39) |
F1002S |
probably damaging |
Het |
| Hsd3b6 |
T |
C |
3: 98,713,489 (GRCm39) |
Y270C |
probably benign |
Het |
| Jup |
A |
G |
11: 100,267,817 (GRCm39) |
I502T |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,531 (GRCm39) |
|
probably null |
Het |
| Mei1 |
T |
C |
15: 81,999,944 (GRCm39) |
V1127A |
probably benign |
Het |
| Ncstn |
A |
T |
1: 171,900,024 (GRCm39) |
|
probably benign |
Het |
| Nin |
T |
C |
12: 70,092,042 (GRCm39) |
R756G |
probably damaging |
Het |
| Notch2 |
C |
A |
3: 98,006,737 (GRCm39) |
|
probably null |
Het |
| Or1j19 |
A |
G |
2: 36,677,410 (GRCm39) |
Y291C |
probably damaging |
Het |
| Or5b21 |
T |
C |
19: 12,839,799 (GRCm39) |
F220S |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,545 (GRCm39) |
I46T |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,514 (GRCm39) |
|
probably null |
Het |
| Rspo3 |
T |
G |
10: 29,376,044 (GRCm39) |
E173A |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,095 (GRCm39) |
V467E |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,862,423 (GRCm39) |
E209K |
possibly damaging |
Het |
| Uchl4 |
T |
C |
9: 64,142,911 (GRCm39) |
S131P |
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,616,014 (GRCm39) |
I769V |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,339,325 (GRCm39) |
M522T |
probably benign |
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 |
|
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 |
|
|
R1138:Oacyl
|
UTSW |
18 |
65,858,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation