Incidental Mutation 'R9470:Cyp2c54'
ID |
715441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c54
|
Ensembl Gene |
ENSMUSG00000067225 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 54 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R9470 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
40026384-40062271 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40060888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 85
(E85G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048284
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048959]
|
AlphaFold |
Q6XVG2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048959
AA Change: E85G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048284 Gene: ENSMUSG00000067225 AA Change: E85G
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
T |
A |
4: 129,903,074 (GRCm39) |
L558Q |
probably damaging |
Het |
Apob |
A |
G |
12: 8,039,219 (GRCm39) |
D483G |
possibly damaging |
Het |
Arid1a |
T |
C |
4: 133,413,057 (GRCm39) |
D994G |
unknown |
Het |
Barx2 |
A |
T |
9: 31,770,044 (GRCm39) |
Y161* |
probably null |
Het |
Bmp7 |
G |
T |
2: 172,711,960 (GRCm39) |
N421K |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,974,439 (GRCm39) |
C2292S |
probably damaging |
Het |
Ces1c |
C |
T |
8: 93,830,746 (GRCm39) |
|
probably null |
Het |
Clca3b |
T |
C |
3: 144,543,456 (GRCm39) |
T458A |
probably damaging |
Het |
Cntnap5a |
T |
G |
1: 116,374,344 (GRCm39) |
V952G |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 50,026,777 (GRCm39) |
K1962E |
possibly damaging |
Het |
Dnajc13 |
A |
G |
9: 104,107,919 (GRCm39) |
V254A |
probably benign |
Het |
Dysf |
A |
T |
6: 84,090,352 (GRCm39) |
I955F |
possibly damaging |
Het |
Fam184b |
A |
G |
5: 45,741,854 (GRCm39) |
S126P |
probably damaging |
Het |
Gapvd1 |
A |
T |
2: 34,602,280 (GRCm39) |
D622E |
possibly damaging |
Het |
Ggta1 |
T |
C |
2: 35,292,767 (GRCm39) |
Y180C |
probably damaging |
Het |
Gpr31b |
A |
G |
17: 13,270,845 (GRCm39) |
V108A |
probably damaging |
Het |
Kcnu1 |
A |
G |
8: 26,409,660 (GRCm39) |
Y861C |
probably benign |
Het |
Mov10l1 |
T |
C |
15: 88,904,518 (GRCm39) |
L799P |
probably damaging |
Het |
Nkx1-1 |
G |
A |
5: 33,591,275 (GRCm39) |
P16S |
unknown |
Het |
Nos1 |
T |
C |
5: 118,064,560 (GRCm39) |
L997P |
probably damaging |
Het |
Noxred1 |
A |
G |
12: 87,269,829 (GRCm39) |
Y301H |
possibly damaging |
Het |
Nup50l |
T |
C |
6: 96,142,474 (GRCm39) |
H190R |
possibly damaging |
Het |
Or11g1 |
T |
C |
14: 50,651,235 (GRCm39) |
V78A |
possibly damaging |
Het |
Or52j3 |
G |
A |
7: 102,836,270 (GRCm39) |
R154H |
probably benign |
Het |
Or5ak4 |
A |
T |
2: 85,161,673 (GRCm39) |
S190T |
probably damaging |
Het |
Or5b113 |
A |
G |
19: 13,342,115 (GRCm39) |
N41S |
probably damaging |
Het |
Or6b6 |
A |
T |
7: 106,571,461 (GRCm39) |
I30N |
probably benign |
Het |
Paqr7 |
T |
C |
4: 134,234,914 (GRCm39) |
V257A |
probably benign |
Het |
Parp8 |
A |
T |
13: 117,031,292 (GRCm39) |
S473R |
probably benign |
Het |
Pcdhb14 |
A |
T |
18: 37,581,076 (GRCm39) |
T61S |
probably benign |
Het |
Pde11a |
G |
A |
2: 75,821,612 (GRCm39) |
A889V |
probably benign |
Het |
Potefam3e |
T |
A |
8: 19,797,809 (GRCm39) |
S292T |
probably benign |
Het |
Scart2 |
A |
G |
7: 139,827,345 (GRCm39) |
T18A |
probably benign |
Het |
Sertad1 |
T |
C |
7: 27,188,871 (GRCm39) |
L64P |
probably damaging |
Het |
Tmem156 |
C |
T |
5: 65,237,531 (GRCm39) |
R43K |
probably damaging |
Het |
Tmem82 |
T |
A |
4: 141,342,341 (GRCm39) |
D287V |
probably damaging |
Het |
Traf1 |
A |
G |
2: 34,833,974 (GRCm39) |
F381L |
probably benign |
Het |
Trim44 |
T |
C |
2: 102,230,651 (GRCm39) |
S127G |
unknown |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Ubap2 |
G |
A |
4: 41,195,434 (GRCm39) |
A1068V |
possibly damaging |
Het |
Vmn1r47 |
T |
G |
6: 89,999,777 (GRCm39) |
M303R |
probably null |
Het |
Zc3h12d |
T |
C |
10: 7,743,321 (GRCm39) |
S364P |
possibly damaging |
Het |
Zdbf2 |
T |
A |
1: 63,344,784 (GRCm39) |
N1054K |
possibly damaging |
Het |
Zpbp |
A |
T |
11: 11,358,541 (GRCm39) |
I242N |
probably damaging |
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 |
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 |
|
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'- AGACATTACAGAGTAAATCCTGGAG -3'
(R):5'- TGCGCAGTACTATTACCAGTC -3'
Sequencing Primer
(F):5'- TCTGGTGGCTGCCATAGAATCC -3'
(R):5'- GCGCAGTACTATTACCAGTCTAAAAG -3'
|
Posted On |
2022-06-15 |