Incidental Mutation 'R4401:Cyp2c54'
| ID |
326649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c54
|
| Ensembl Gene |
ENSMUSG00000067225 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 54 |
| Synonyms |
|
| MMRRC Submission |
041132-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R4401 (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 C
at 40060615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 122
(N122S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048959]
|
| AlphaFold |
Q6XVG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048959
AA Change: N122S
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: N122S
| 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: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,752,390 (GRCm39) |
I454V |
possibly damaging |
Het |
| Acvr2a |
A |
G |
2: 48,789,714 (GRCm39) |
T486A |
probably benign |
Het |
| Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 4,990,145 (GRCm39) |
C157S |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
| Cct2 |
A |
G |
10: 116,893,714 (GRCm39) |
I287T |
possibly damaging |
Het |
| Cntn4 |
A |
G |
6: 106,466,625 (GRCm39) |
T176A |
possibly damaging |
Het |
| Cracd |
G |
A |
5: 76,996,763 (GRCm39) |
V74I |
probably damaging |
Het |
| Cytip |
T |
C |
2: 58,023,947 (GRCm39) |
D291G |
probably benign |
Het |
| Eef1d |
C |
T |
15: 75,774,769 (GRCm39) |
V213I |
probably benign |
Het |
| Fnbp4 |
A |
G |
2: 90,577,102 (GRCm39) |
T145A |
possibly damaging |
Het |
| Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
| Gm11937 |
C |
T |
11: 99,500,901 (GRCm39) |
V39M |
probably damaging |
Het |
| Gm6712 |
C |
T |
17: 17,538,366 (GRCm39) |
|
noncoding transcript |
Het |
| Hira |
A |
G |
16: 18,744,470 (GRCm39) |
I352V |
probably damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Lpcat2 |
T |
C |
8: 93,599,683 (GRCm39) |
V217A |
possibly damaging |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Or2a25 |
G |
T |
6: 42,889,260 (GRCm39) |
E268* |
probably null |
Het |
| Or4k35 |
A |
G |
2: 111,100,178 (GRCm39) |
F178S |
probably damaging |
Het |
| Or51f5 |
C |
T |
7: 102,424,006 (GRCm39) |
R92* |
probably null |
Het |
| Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
| Rfng |
A |
T |
11: 120,673,306 (GRCm39) |
V245E |
possibly damaging |
Het |
| Rpf2 |
A |
G |
10: 40,112,124 (GRCm39) |
V104A |
possibly damaging |
Het |
| Rps6kc1 |
G |
T |
1: 190,532,155 (GRCm39) |
H616N |
probably benign |
Het |
| Slc66a1 |
T |
C |
4: 139,033,854 (GRCm39) |
I22V |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,042,305 (GRCm39) |
V528A |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,640,826 (GRCm39) |
|
probably null |
Het |
| Trrap |
A |
G |
5: 144,780,128 (GRCm39) |
T3240A |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
A |
3: 5,468,405 (GRCm39) |
Y2854* |
probably null |
Het |
| Zfp986 |
C |
T |
4: 145,625,513 (GRCm39) |
R58C |
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 |
|
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 |
|
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'- TGACAATGCTTTGGAACACTGAC -3'
(R):5'- GACCATGGGGATGTCTTTGC -3'
Sequencing Primer
(F):5'- TGCTTTGGAACACTGACATGAGAC -3'
(R):5'- GGAAGGCTCCCAGTTTTTGATAAAGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation