Incidental Mutation 'IGL00333:Cyp2c54'
| ID |
5662 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2c54
|
| Ensembl Gene |
ENSMUSG00000067225 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 54 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
IGL00333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
40026384-40062271 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 40060522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 153
(V153G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048959]
|
| AlphaFold |
Q6XVG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048959
AA Change: V153G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: V153G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
2.2e-159 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosa |
T |
C |
9: 74,933,072 (GRCm39) |
I1006T |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,366,821 (GRCm39) |
C259Y |
probably damaging |
Het |
| Bag6 |
T |
G |
17: 35,363,627 (GRCm39) |
D770E |
probably damaging |
Het |
| Ccdc8 |
T |
A |
7: 16,729,967 (GRCm39) |
D485E |
unknown |
Het |
| Haus8 |
A |
G |
8: 71,708,289 (GRCm39) |
|
probably null |
Het |
| Hgf |
A |
T |
5: 16,816,880 (GRCm39) |
T499S |
possibly damaging |
Het |
| Ifitm1 |
T |
A |
7: 140,549,537 (GRCm39) |
*107R |
probably null |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Klk1b27 |
T |
A |
7: 43,705,567 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
C |
A |
17: 71,550,967 (GRCm39) |
T709K |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,849,017 (GRCm39) |
L945P |
probably benign |
Het |
| Lrrn4 |
C |
T |
2: 132,712,737 (GRCm39) |
C362Y |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,202,320 (GRCm39) |
S184P |
probably damaging |
Het |
| Nr2f1 |
A |
T |
13: 78,337,952 (GRCm39) |
V231E |
probably damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,474 (GRCm39) |
Y216* |
probably null |
Het |
| Orc1 |
T |
C |
4: 108,452,522 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
C |
12: 9,629,432 (GRCm39) |
I102L |
probably benign |
Het |
| Pcbd1 |
A |
T |
10: 60,927,949 (GRCm39) |
Q37L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,571,691 (GRCm39) |
Q359* |
probably null |
Het |
| Rpgrip1 |
A |
T |
14: 52,387,895 (GRCm39) |
|
probably null |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Speer4a2 |
A |
G |
5: 26,291,491 (GRCm39) |
M105T |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,447,387 (GRCm39) |
T2184A |
probably benign |
Het |
| Synpo2 |
C |
T |
3: 122,906,859 (GRCm39) |
G819D |
probably damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,654 (GRCm39) |
V180A |
possibly damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,433,210 (GRCm39) |
D324G |
probably damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,606,970 (GRCm39) |
L328* |
probably null |
Het |
| Tmem253 |
T |
C |
14: 52,255,418 (GRCm39) |
L76P |
probably damaging |
Het |
| Tsc1 |
G |
A |
2: 28,551,623 (GRCm39) |
V46I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,779,425 (GRCm39) |
F1152I |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,257,101 (GRCm39) |
V139A |
probably damaging |
Het |
| Ublcp1 |
T |
C |
11: 44,351,597 (GRCm39) |
D212G |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,547,574 (GRCm39) |
L1622Q |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,364 (GRCm39) |
T162A |
probably damaging |
Het |
|
| Other mutations in Cyp2c54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02694:Cyp2c54
|
APN |
19 |
40,035,987 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03170:Cyp2c54
|
APN |
19 |
40,060,809 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03175:Cyp2c54
|
APN |
19 |
40,058,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0097:Cyp2c54
|
UTSW |
19 |
40,036,103 (GRCm39) |
splice site |
probably benign |
|
|
R0097:Cyp2c54
|
UTSW |
19 |
40,036,102 (GRCm39) |
splice site |
probably benign |
|
|
R0391:Cyp2c54
|
UTSW |
19 |
40,060,613 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0581:Cyp2c54
|
UTSW |
19 |
40,035,999 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0787:Cyp2c54
|
UTSW |
19 |
40,036,079 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1253:Cyp2c54
|
UTSW |
19 |
40,034,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Cyp2c54
|
UTSW |
19 |
40,036,032 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1604:Cyp2c54
|
UTSW |
19 |
40,058,787 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3624:Cyp2c54
|
UTSW |
19 |
40,058,688 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3871:Cyp2c54
|
UTSW |
19 |
40,060,867 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3983:Cyp2c54
|
UTSW |
19 |
40,034,699 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4401:Cyp2c54
|
UTSW |
19 |
40,060,615 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4416:Cyp2c54
|
UTSW |
19 |
40,026,703 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4962:Cyp2c54
|
UTSW |
19 |
40,060,585 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5203:Cyp2c54
|
UTSW |
19 |
40,060,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5634:Cyp2c54
|
UTSW |
19 |
40,060,858 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6083:Cyp2c54
|
UTSW |
19 |
40,062,206 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6182:Cyp2c54
|
UTSW |
19 |
40,036,005 (GRCm39) |
missense |
probably benign |
|
|
R6754:Cyp2c54
|
UTSW |
19 |
40,060,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Cyp2c54
|
UTSW |
19 |
40,058,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6948:Cyp2c54
|
UTSW |
19 |
40,034,636 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7215:Cyp2c54
|
UTSW |
19 |
40,034,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7244:Cyp2c54
|
UTSW |
19 |
40,035,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7278:Cyp2c54
|
UTSW |
19 |
40,058,697 (GRCm39) |
nonsense |
probably null |
|
|
R7535:Cyp2c54
|
UTSW |
19 |
40,058,716 (GRCm39) |
missense |
probably benign |
|
|
R7838:Cyp2c54
|
UTSW |
19 |
40,058,688 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8039:Cyp2c54
|
UTSW |
19 |
40,062,176 (GRCm39) |
frame shift |
probably null |
|
|
R8275:Cyp2c54
|
UTSW |
19 |
40,026,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8340:Cyp2c54
|
UTSW |
19 |
40,060,831 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8367:Cyp2c54
|
UTSW |
19 |
40,062,125 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8477:Cyp2c54
|
UTSW |
19 |
40,058,708 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8487:Cyp2c54
|
UTSW |
19 |
40,059,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8519:Cyp2c54
|
UTSW |
19 |
40,026,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8534:Cyp2c54
|
UTSW |
19 |
40,036,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8858:Cyp2c54
|
UTSW |
19 |
40,062,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9215:Cyp2c54
|
UTSW |
19 |
40,035,950 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9236:Cyp2c54
|
UTSW |
19 |
40,060,938 (GRCm39) |
nonsense |
probably null |
|
|
R9470:Cyp2c54
|
UTSW |
19 |
40,060,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9792:Cyp2c54
|
UTSW |
19 |
40,034,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cyp2c54
|
UTSW |
19 |
40,034,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cyp2c54
|
UTSW |
19 |
40,062,201 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2012-04-20 |
Incidental Mutation