Incidental Mutation 'R0787:Cyp2c54'
ID |
76935 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c54
|
Ensembl Gene |
ENSMUSG00000067225 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 54 |
Synonyms |
|
MMRRC Submission |
038967-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R0787 (G1)
|
Quality Score |
164 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
40026384-40062271 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40036079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 277
(N277S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048284
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048959]
|
AlphaFold |
Q6XVG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048959
AA Change: N277S
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000048284 Gene: ENSMUSG00000067225 AA Change: N277S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
2.2e-159 |
PFAM |
|
Meta Mutation Damage Score |
0.1551 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001F09Rik |
A |
T |
14: 43,202,950 (GRCm39) |
|
probably null |
Het |
Abca8a |
T |
A |
11: 109,933,814 (GRCm39) |
Y1197F |
possibly damaging |
Het |
Abcc2 |
T |
C |
19: 43,786,955 (GRCm39) |
|
probably null |
Het |
Adamts16 |
A |
T |
13: 70,886,948 (GRCm39) |
C979S |
probably damaging |
Het |
Agap2 |
T |
A |
10: 126,921,019 (GRCm39) |
D523E |
unknown |
Het |
Ankfy1 |
T |
A |
11: 72,651,122 (GRCm39) |
I1024N |
probably damaging |
Het |
Ankrd13c |
A |
G |
3: 157,700,315 (GRCm39) |
S379G |
probably null |
Het |
Arhgap40 |
T |
C |
2: 158,389,710 (GRCm39) |
S625P |
probably benign |
Het |
Armc12 |
G |
C |
17: 28,757,740 (GRCm39) |
A291P |
probably damaging |
Het |
Armc9 |
A |
G |
1: 86,130,227 (GRCm39) |
N524D |
probably damaging |
Het |
Col12a1 |
G |
T |
9: 79,545,767 (GRCm39) |
T2305K |
probably damaging |
Het |
Czib |
T |
A |
4: 107,747,326 (GRCm39) |
L6Q |
probably damaging |
Het |
Dennd2b |
G |
T |
7: 109,124,827 (GRCm39) |
R1068S |
possibly damaging |
Het |
E130311K13Rik |
A |
T |
3: 63,827,719 (GRCm39) |
V129E |
probably benign |
Het |
Ehbp1l1 |
T |
C |
19: 5,772,696 (GRCm39) |
D79G |
possibly damaging |
Het |
Epb41l1 |
A |
G |
2: 156,336,010 (GRCm39) |
E58G |
probably damaging |
Het |
Fam217b |
T |
A |
2: 178,062,702 (GRCm39) |
V222E |
probably benign |
Het |
Fat1 |
T |
A |
8: 45,493,592 (GRCm39) |
Y3913N |
probably damaging |
Het |
Fgd4 |
A |
G |
16: 16,241,765 (GRCm39) |
|
probably benign |
Het |
Hltf |
A |
T |
3: 20,160,610 (GRCm39) |
D759V |
probably damaging |
Het |
Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
Isg15 |
C |
T |
4: 156,284,396 (GRCm39) |
R44H |
probably benign |
Het |
Itga4 |
C |
T |
2: 79,109,497 (GRCm39) |
T232I |
probably benign |
Het |
Kntc1 |
C |
A |
5: 123,934,167 (GRCm39) |
H1399Q |
probably benign |
Het |
Lig1 |
A |
C |
7: 13,032,995 (GRCm39) |
K499Q |
probably benign |
Het |
Lrrn3 |
C |
A |
12: 41,504,230 (GRCm39) |
C29F |
probably damaging |
Het |
Mtmr10 |
T |
C |
7: 63,950,363 (GRCm39) |
I136T |
possibly damaging |
Het |
Naip1 |
A |
G |
13: 100,562,604 (GRCm39) |
Y854H |
probably benign |
Het |
Or6c201 |
T |
C |
10: 128,969,395 (GRCm39) |
N81D |
possibly damaging |
Het |
Pcdh9 |
G |
A |
14: 94,124,193 (GRCm39) |
A659V |
possibly damaging |
Het |
Phf20l1 |
T |
A |
15: 66,487,479 (GRCm39) |
|
probably benign |
Het |
Phgdh |
A |
G |
3: 98,241,865 (GRCm39) |
V83A |
probably damaging |
Het |
Pik3r1 |
A |
T |
13: 101,827,031 (GRCm39) |
M326K |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,802,916 (GRCm39) |
D235G |
possibly damaging |
Het |
Pkhd1l1 |
C |
A |
15: 44,392,660 (GRCm39) |
P1665Q |
probably damaging |
Het |
Ppp1r7 |
A |
G |
1: 93,292,678 (GRCm39) |
T326A |
probably damaging |
Het |
Prr22 |
A |
T |
17: 57,078,072 (GRCm39) |
Y75F |
possibly damaging |
Het |
Ptov1 |
A |
C |
7: 44,514,894 (GRCm39) |
|
probably null |
Het |
Rasal2 |
A |
G |
1: 156,986,266 (GRCm39) |
S766P |
probably damaging |
Het |
Shmt1 |
T |
C |
11: 60,683,802 (GRCm39) |
T337A |
probably benign |
Het |
Tbc1d4 |
A |
T |
14: 101,686,645 (GRCm39) |
I1168N |
probably damaging |
Het |
Tecpr2 |
T |
C |
12: 110,912,777 (GRCm39) |
V1126A |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,066,687 (GRCm39) |
S2304T |
possibly damaging |
Het |
Tiam1 |
C |
A |
16: 89,586,449 (GRCm39) |
R1446M |
probably damaging |
Het |
Tmem87a |
T |
C |
2: 120,200,965 (GRCm39) |
I425V |
probably benign |
Het |
Ubr3 |
T |
C |
2: 69,781,765 (GRCm39) |
|
probably benign |
Het |
Ubxn7 |
T |
A |
16: 32,200,581 (GRCm39) |
|
probably benign |
Het |
Vmn2r13 |
A |
G |
5: 109,304,713 (GRCm39) |
S573P |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,105,254 (GRCm39) |
V191E |
probably damaging |
Het |
Zdhhc3 |
A |
T |
9: 122,912,688 (GRCm39) |
C153* |
probably null |
Het |
Zfp407 |
A |
T |
18: 84,227,147 (GRCm39) |
V2154D |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,227,471 (GRCm39) |
V2046A |
probably benign |
Het |
Zfr |
T |
A |
15: 12,140,634 (GRCm39) |
I227N |
unknown |
Het |
|
Other mutations in Cyp2c54 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00333:Cyp2c54
|
APN |
19 |
40,060,522 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACAGTGGTTCAACACCTGTTTC -3'
(R):5'- ACACACCTGGGCAGATAATCTTTGG -3'
Sequencing Primer
(F):5'- GGTTCAACACCTGTTTCATCCTC -3'
(R):5'- GACAGTGTGTTGGCCACAAAA -3'
|
Posted On |
2013-10-16 |