Incidental Mutation 'R1253:Cyp2c54'
| ID |
151864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c54
|
| Ensembl Gene |
ENSMUSG00000067225 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 54 |
| Synonyms |
|
| MMRRC Submission |
039320-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R1253 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
40026384-40062271 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40034629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 347
(Y347F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048959]
|
| AlphaFold |
Q6XVG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048959
AA Change: Y347F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: Y347F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
2.2e-159 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg2 |
G |
A |
6: 83,499,869 (GRCm39) |
T127I |
probably damaging |
Het |
| Aph1b |
T |
A |
9: 66,697,931 (GRCm39) |
K102* |
probably null |
Het |
| Caskin1 |
A |
G |
17: 24,724,047 (GRCm39) |
K945R |
probably damaging |
Het |
| Ccdc137 |
C |
A |
11: 120,349,005 (GRCm39) |
A12E |
probably benign |
Het |
| Cdhr1 |
A |
G |
14: 36,801,582 (GRCm39) |
M787T |
probably benign |
Het |
| Cic |
T |
A |
7: 24,990,373 (GRCm39) |
V1958E |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,651,502 (GRCm39) |
I1170F |
probably null |
Het |
| Kntc1 |
AGTGT |
AGT |
5: 123,948,925 (GRCm39) |
|
probably null |
Het |
| Large1 |
T |
C |
8: 73,775,050 (GRCm39) |
Y220C |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,351,760 (GRCm39) |
D1592E |
probably damaging |
Het |
| Mtus2 |
C |
T |
5: 148,240,380 (GRCm39) |
Q76* |
probably null |
Het |
| Olfm3 |
A |
T |
3: 114,916,418 (GRCm39) |
D450V |
probably damaging |
Het |
| Or1l4b |
T |
A |
2: 37,036,884 (GRCm39) |
V220D |
possibly damaging |
Het |
| Or4k6 |
A |
G |
14: 50,475,581 (GRCm39) |
C254R |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,917 (GRCm39) |
I310K |
probably benign |
Het |
| Ormdl1 |
G |
A |
1: 53,344,681 (GRCm39) |
R81K |
possibly damaging |
Het |
| Pcdhb12 |
G |
A |
18: 37,568,874 (GRCm39) |
V7I |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 162,120,146 (GRCm39) |
I107T |
probably damaging |
Het |
| Rbm27 |
A |
C |
18: 42,434,839 (GRCm39) |
D301A |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,380,232 (GRCm39) |
I200N |
probably damaging |
Het |
| Rtn4ip1 |
A |
T |
10: 43,786,867 (GRCm39) |
I192L |
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,439,102 (GRCm39) |
F176S |
possibly damaging |
Het |
| Sorcs3 |
C |
A |
19: 48,195,175 (GRCm39) |
A186E |
possibly damaging |
Het |
| Spata31 |
A |
G |
13: 65,069,838 (GRCm39) |
Y662C |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,256,619 (GRCm39) |
P377S |
possibly damaging |
Het |
| Srrt |
T |
C |
5: 137,298,598 (GRCm39) |
K222R |
probably benign |
Het |
| Tas2r129 |
T |
C |
6: 132,928,999 (GRCm39) |
I312T |
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,913,413 (GRCm39) |
P169Q |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,287,252 (GRCm39) |
M515V |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,028 (GRCm39) |
N122K |
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 |
|
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 |
|
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'- TGTGGACTGGAGTCACATTGTGAAC -3'
(R):5'- GCACTGGGTAACCTTGCATTATTGTAAC -3'
Sequencing Primer
(F):5'- CCTTGGGAATGAAGTAGTTCCT -3'
(R):5'- TGAGCATGTGATCGGCAA -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation