Incidental Mutation 'R7244:Cyp2c54'
ID |
563438 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c54
|
Ensembl Gene |
ENSMUSG00000067225 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 54 |
Synonyms |
|
MMRRC Submission |
045308-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R7244 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
40026384-40062271 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40035953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 319
(V319A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048284
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048959]
|
AlphaFold |
Q6XVG2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048959
AA Change: V319A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000048284 Gene: ENSMUSG00000067225 AA Change: V319A
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (45/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
A |
G |
1: 25,170,350 (GRCm39) |
F983L |
probably damaging |
Het |
Cc2d1b |
T |
A |
4: 108,486,799 (GRCm39) |
M632K |
probably benign |
Het |
Cdyl2 |
G |
A |
8: 117,301,999 (GRCm39) |
R461* |
probably null |
Het |
Cfap57 |
G |
A |
4: 118,411,997 (GRCm39) |
Q1216* |
probably null |
Het |
Chd1l |
A |
T |
3: 97,505,066 (GRCm39) |
V167E |
probably damaging |
Het |
Col6a1 |
C |
A |
10: 76,553,242 (GRCm39) |
G391* |
probably null |
Het |
Ctsc |
C |
A |
7: 87,951,430 (GRCm39) |
Q226K |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,316,303 (GRCm39) |
S3139P |
probably damaging |
Het |
Edrf1 |
T |
C |
7: 133,256,079 (GRCm39) |
S643P |
probably benign |
Het |
Fam186a |
A |
T |
15: 99,844,273 (GRCm39) |
V657D |
unknown |
Het |
Fkbp11 |
A |
G |
15: 98,626,073 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,823,607 (GRCm39) |
A6447T |
possibly damaging |
Het |
H2-T9 |
C |
A |
17: 36,438,496 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
G |
8: 111,276,307 (GRCm39) |
D3017G |
probably damaging |
Het |
Ifi205 |
G |
A |
1: 173,845,210 (GRCm39) |
Q191* |
probably null |
Het |
Mbd4 |
C |
T |
6: 115,821,564 (GRCm39) |
D484N |
probably benign |
Het |
Med24 |
C |
T |
11: 98,605,223 (GRCm39) |
|
probably null |
Het |
Mis18bp1 |
T |
C |
12: 65,208,404 (GRCm39) |
N103S |
probably damaging |
Het |
Mmd2 |
T |
C |
5: 142,550,587 (GRCm39) |
H217R |
probably damaging |
Het |
Mn1 |
C |
T |
5: 111,566,699 (GRCm39) |
T223M |
possibly damaging |
Het |
Ms4a4a |
A |
G |
19: 11,358,794 (GRCm39) |
Y84C |
probably damaging |
Het |
Mup5 |
A |
T |
4: 61,749,818 (GRCm39) |
|
probably null |
Het |
Mybl2 |
C |
T |
2: 162,924,605 (GRCm39) |
P658S |
probably benign |
Het |
Mycbp2 |
C |
A |
14: 103,446,345 (GRCm39) |
V1828L |
probably damaging |
Het |
Myh15 |
T |
C |
16: 49,017,149 (GRCm39) |
Y1887H |
probably damaging |
Het |
Nadk2 |
A |
G |
15: 9,083,271 (GRCm39) |
|
probably null |
Het |
Nsd3 |
A |
G |
8: 26,156,055 (GRCm39) |
N541D |
probably damaging |
Het |
Or52e8b |
A |
G |
7: 104,674,148 (GRCm39) |
V13A |
probably benign |
Het |
Or52i2 |
G |
T |
7: 102,319,046 (GRCm39) |
|
probably benign |
Het |
Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
Pcdha11 |
A |
T |
18: 37,144,421 (GRCm39) |
R171* |
probably null |
Het |
Pkd1l1 |
A |
T |
11: 8,821,771 (GRCm39) |
V1641E |
|
Het |
Pramel28 |
A |
T |
4: 143,692,455 (GRCm39) |
M182K |
probably benign |
Het |
Prom1 |
T |
A |
5: 44,178,242 (GRCm39) |
I497L |
probably benign |
Het |
Rasgef1b |
T |
C |
5: 99,706,753 (GRCm39) |
K41E |
possibly damaging |
Het |
Rasgrf1 |
T |
C |
9: 89,876,810 (GRCm39) |
F725S |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,612,032 (GRCm39) |
S3962C |
probably damaging |
Het |
Sema5b |
A |
T |
16: 35,480,915 (GRCm39) |
T829S |
probably benign |
Het |
Tdp2 |
A |
G |
13: 25,025,284 (GRCm39) |
D351G |
probably benign |
Het |
Tet3 |
A |
T |
6: 83,347,603 (GRCm39) |
D1130E |
probably damaging |
Het |
Tg |
T |
C |
15: 66,612,563 (GRCm39) |
C1993R |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,478,222 (GRCm39) |
I844V |
probably benign |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Vmn2r109 |
A |
G |
17: 20,760,945 (GRCm39) |
V804A |
possibly damaging |
Het |
Vps13c |
T |
C |
9: 67,797,086 (GRCm39) |
V491A |
probably benign |
Het |
Xpo5 |
G |
T |
17: 46,525,551 (GRCm39) |
G233C |
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 |
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'- GGGAATCCAGAACACATATTCTCTAC -3'
(R):5'- TGTTGGCCACAAAATGAAGTTATCC -3'
Sequencing Primer
(F):5'- CTTTTATTAGTCACCCTCCTCATTAC -3'
(R):5'- TTGGTGGGACAGAGTCAA -3'
|
Posted On |
2019-06-26 |