Incidental Mutation 'R0581:Cyp2c54'
| ID |
56447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c54
|
| Ensembl Gene |
ENSMUSG00000067225 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 54 |
| Synonyms |
|
| MMRRC Submission |
038771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R0581 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
40026384-40062271 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40035999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 304
(T304S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048959]
|
| AlphaFold |
Q6XVG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048959
AA Change: T304S
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: T304S
| 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 |
0.3098 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
G |
5: 4,100,620 (GRCm39) |
T2761A |
probably benign |
Het |
| Apold1 |
G |
A |
6: 134,960,776 (GRCm39) |
V77I |
probably benign |
Het |
| Atad2 |
T |
C |
15: 57,990,060 (GRCm39) |
T139A |
probably benign |
Het |
| Cacna1a |
A |
T |
8: 85,328,565 (GRCm39) |
I1668F |
possibly damaging |
Het |
| Ccer2 |
T |
A |
7: 28,456,451 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
T |
A |
2: 62,187,020 (GRCm39) |
M497L |
probably benign |
Het |
| Evpl |
T |
A |
11: 116,120,316 (GRCm39) |
I541L |
probably benign |
Het |
| Ggn |
A |
G |
7: 28,871,729 (GRCm39) |
T370A |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,418,116 (GRCm39) |
|
probably benign |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr68 |
G |
C |
12: 100,844,815 (GRCm39) |
P243R |
probably damaging |
Het |
| Gtf3c2 |
G |
T |
5: 31,316,862 (GRCm39) |
Y720* |
probably null |
Het |
| Il2rb |
T |
A |
15: 78,366,136 (GRCm39) |
Y387F |
possibly damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,427,529 (GRCm39) |
V282E |
probably damaging |
Het |
| Krt222 |
G |
A |
11: 99,127,018 (GRCm39) |
Q201* |
probably null |
Het |
| Lats1 |
A |
G |
10: 7,578,705 (GRCm39) |
T610A |
possibly damaging |
Het |
| Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
| Myh7 |
T |
C |
14: 55,222,953 (GRCm39) |
I751V |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,998,023 (GRCm39) |
I429T |
probably benign |
Het |
| Nemf |
A |
T |
12: 69,369,045 (GRCm39) |
D723E |
probably benign |
Het |
| Nlrp4b |
T |
C |
7: 10,448,457 (GRCm39) |
L220P |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,851,536 (GRCm39) |
D418V |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,200,718 (GRCm39) |
N1270S |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,458,834 (GRCm39) |
S75P |
probably damaging |
Het |
| Or2g1 |
A |
G |
17: 38,106,993 (GRCm39) |
I219M |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,624,901 (GRCm39) |
T1579I |
possibly damaging |
Het |
| Pkp2 |
T |
A |
16: 16,087,647 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,173,598 (GRCm39) |
Y301C |
probably damaging |
Het |
| Psmb4 |
T |
C |
3: 94,793,479 (GRCm39) |
H134R |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,334,881 (GRCm39) |
T1043A |
probably benign |
Het |
| Sec14l5 |
T |
A |
16: 4,996,349 (GRCm39) |
|
probably null |
Het |
| Serpina12 |
T |
A |
12: 103,997,399 (GRCm39) |
Q374L |
probably damaging |
Het |
| Serpinb10 |
C |
T |
1: 107,474,692 (GRCm39) |
R362* |
probably null |
Het |
| Sorcs1 |
T |
A |
19: 50,241,139 (GRCm39) |
I416F |
possibly damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,241,178 (GRCm39) |
D82G |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,483,985 (GRCm39) |
Q89L |
probably damaging |
Het |
| Tat |
A |
G |
8: 110,718,270 (GRCm39) |
T52A |
possibly damaging |
Het |
| Yipf7 |
T |
A |
5: 69,678,406 (GRCm39) |
I128F |
probably benign |
Het |
| Zfp112 |
T |
A |
7: 23,825,288 (GRCm39) |
C419S |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,742,726 (GRCm39) |
I769V |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACCCTCCTCATTACAGACAGTG -3'
(R):5'- ACACACCTGGGCAGATAATCTTTGG -3'
Sequencing Primer
(F):5'- TCCTCATTACAGACAGTGAAACAG -3'
(R):5'- GGAAGATGACAATCATCCTTTGAAA -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation