Incidental Mutation 'R5525:Oacyl'
| ID |
431830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oacyl
|
| Ensembl Gene |
ENSMUSG00000046610 |
| Gene Name |
O-acyltransferase like |
| Synonyms |
5330437I02Rik |
| MMRRC Submission |
043083-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5525 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
65831339-65884672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 65878427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 457
(I457L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115097]
[ENSMUST00000117694]
|
| AlphaFold |
Q8BML2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115097
AA Change: I530L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110749
Gene: ENSMUSG00000046610
AA Change: I530L
| 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: I457L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113626
Gene: ENSMUSG00000046610
AA Change: I457L
| 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 |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,749,731 (GRCm39) |
T1501A |
probably benign |
Het |
| Acin1 |
G |
A |
14: 54,901,848 (GRCm39) |
A648V |
possibly damaging |
Het |
| Agap1 |
A |
G |
1: 89,671,495 (GRCm39) |
T401A |
possibly damaging |
Het |
| Anapc4 |
T |
G |
5: 53,014,151 (GRCm39) |
M440R |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,504,692 (GRCm39) |
M739T |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,001,273 (GRCm39) |
E721G |
possibly damaging |
Het |
| Bzw1 |
A |
G |
1: 58,442,065 (GRCm39) |
E221G |
possibly damaging |
Het |
| Cenpm |
A |
C |
15: 82,123,492 (GRCm39) |
|
probably null |
Het |
| Exosc1 |
T |
A |
19: 41,912,457 (GRCm39) |
K143N |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 92,043,228 (GRCm39) |
L1236Q |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Grm3 |
C |
T |
5: 9,554,872 (GRCm39) |
V807I |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,504,026 (GRCm39) |
N1110S |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,769,354 (GRCm39) |
V17D |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,767,961 (GRCm39) |
M5298R |
possibly damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,083,926 (GRCm39) |
E551V |
probably damaging |
Het |
| Or12d13 |
C |
T |
17: 37,647,517 (GRCm39) |
G202D |
probably damaging |
Het |
| Or5p69 |
A |
G |
7: 107,967,206 (GRCm39) |
I170V |
probably benign |
Het |
| Or5t17 |
A |
T |
2: 86,832,683 (GRCm39) |
E123D |
possibly damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,210,269 (GRCm39) |
E996G |
probably damaging |
Het |
| Rabep1 |
T |
A |
11: 70,813,972 (GRCm39) |
S554T |
probably damaging |
Het |
| Rln1 |
T |
C |
19: 29,311,920 (GRCm39) |
E26G |
probably benign |
Het |
| Rpf1 |
A |
G |
3: 146,223,559 (GRCm39) |
|
silent |
Het |
| Sdk1 |
T |
C |
5: 142,171,020 (GRCm39) |
V1961A |
possibly damaging |
Het |
| Serpinb8 |
A |
T |
1: 107,535,023 (GRCm39) |
I365F |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,623,846 (GRCm39) |
D277G |
probably damaging |
Het |
| Snapc4 |
ACTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGC |
2: 26,259,538 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,332,006 (GRCm39) |
T1269A |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,389,939 (GRCm39) |
N776D |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,645,773 (GRCm39) |
E1483G |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,485,803 (GRCm39) |
D2971G |
probably benign |
Het |
| Zfp322a |
A |
G |
13: 23,541,685 (GRCm39) |
V19A |
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,050,281 (GRCm39) |
P2164T |
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 |
|
|
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 |
|
|
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'- CTTCATCCAGTCAAAGCCGAG -3'
(R):5'- TGTGTCCCAATAGCTCAAGTG -3'
Sequencing Primer
(F):5'- AGTCAAAGCCGAGCCTTTG -3'
(R):5'- TGTCCCAATAGCTCAAGTGGAGTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation