Incidental Mutation 'IGL01970:Oacyl'
| ID |
182532 |
| 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: 0.058)
|
| Stock # |
IGL01970
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
65831339-65884672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65882785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 627
(I627F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115097]
[ENSMUST00000117694]
|
| AlphaFold |
Q8BML2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115097
AA Change: I627F
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110749
Gene: ENSMUSG00000046610
AA Change: I627F
| 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 benign
Transcript: ENSMUST00000117694
AA Change: I554F
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113626
Gene: ENSMUSG00000046610
AA Change: I554F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134343
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdk9 |
T |
C |
2: 32,598,063 (GRCm39) |
H280R |
possibly damaging |
Het |
| Cenpt |
C |
T |
8: 106,571,748 (GRCm39) |
R461H |
probably damaging |
Het |
| Cpa4 |
A |
G |
6: 30,579,645 (GRCm39) |
T151A |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,232 (GRCm39) |
I165T |
possibly damaging |
Het |
| Gm17305 |
A |
T |
11: 69,255,646 (GRCm39) |
|
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,528,465 (GRCm39) |
S391T |
probably damaging |
Het |
| Klrg2 |
T |
C |
6: 38,613,383 (GRCm39) |
K207E |
probably damaging |
Het |
| Krt1 |
T |
C |
15: 101,755,299 (GRCm39) |
I487V |
possibly damaging |
Het |
| Krt27 |
A |
G |
11: 99,239,547 (GRCm39) |
L311P |
probably damaging |
Het |
| Leng9 |
T |
C |
7: 4,151,326 (GRCm39) |
Y450C |
probably damaging |
Het |
| Perm1 |
G |
T |
4: 156,302,118 (GRCm39) |
G221W |
probably damaging |
Het |
| Rft1 |
C |
T |
14: 30,412,492 (GRCm39) |
L518F |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,071,437 (GRCm39) |
Q1209L |
possibly damaging |
Het |
| Selenbp1 |
A |
G |
3: 94,844,313 (GRCm39) |
S57G |
probably benign |
Het |
| Sema5a |
T |
C |
15: 32,686,792 (GRCm39) |
M968T |
probably benign |
Het |
| Slc16a3 |
G |
A |
11: 120,847,864 (GRCm39) |
V351M |
probably damaging |
Het |
| Sorbs2 |
G |
A |
8: 46,198,840 (GRCm39) |
V73I |
probably damaging |
Het |
| Specc1l |
T |
A |
10: 75,081,595 (GRCm39) |
D347E |
probably damaging |
Het |
| Tas2r116 |
A |
C |
6: 132,832,632 (GRCm39) |
T78P |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,997,135 (GRCm39) |
E224G |
probably damaging |
Het |
| Trnau1ap |
T |
C |
4: 132,041,298 (GRCm39) |
|
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,575,813 (GRCm39) |
M228K |
probably damaging |
Het |
| Vnn1 |
T |
C |
10: 23,773,300 (GRCm39) |
I109T |
probably benign |
Het |
| Wee1 |
C |
A |
7: 109,738,457 (GRCm39) |
H523Q |
probably damaging |
Het |
| Xpr1 |
T |
C |
1: 155,165,980 (GRCm39) |
N524S |
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 |
|
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 |
|
|
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