Incidental Mutation 'R8367:Cyp2c54'
| ID |
646234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c54
|
| Ensembl Gene |
ENSMUSG00000067225 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 54 |
| Synonyms |
|
| MMRRC Submission |
067874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R8367 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
40026384-40062271 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 40062125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 44
(Q44P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048959]
|
| AlphaFold |
Q6XVG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048959
AA Change: Q44P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: Q44P
| 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: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
G |
A |
2: 152,284,417 (GRCm39) |
|
probably null |
Het |
| 8030423J24Rik |
A |
T |
13: 71,032,096 (GRCm39) |
E56V |
unknown |
Het |
| Abcb1a |
A |
G |
5: 8,736,221 (GRCm39) |
T205A |
probably benign |
Het |
| Aplp2 |
T |
C |
9: 31,089,202 (GRCm39) |
E93G |
probably damaging |
Het |
| Arpin |
T |
A |
7: 79,579,386 (GRCm39) |
N79I |
possibly damaging |
Het |
| Atg7 |
T |
A |
6: 114,663,060 (GRCm39) |
D225E |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,641,239 (GRCm39) |
D803E |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,754,419 (GRCm39) |
M229V |
unknown |
Het |
| Cep295 |
C |
T |
9: 15,245,826 (GRCm39) |
V877I |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,523,508 (GRCm39) |
|
probably null |
Het |
| Cmip |
C |
T |
8: 118,163,610 (GRCm39) |
P359L |
probably benign |
Het |
| Cyb5rl |
A |
G |
4: 106,928,146 (GRCm39) |
Y94C |
probably benign |
Het |
| Cyp19a1 |
A |
G |
9: 54,087,543 (GRCm39) |
I125T |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,118 (GRCm39) |
H237Q |
probably benign |
Het |
| Dlgap2 |
A |
T |
8: 14,893,544 (GRCm39) |
Y953F |
probably benign |
Het |
| Hgfac |
G |
T |
5: 35,202,790 (GRCm39) |
C430F |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,662,875 (GRCm39) |
W149R |
probably damaging |
Het |
| Krt23 |
C |
T |
11: 99,383,715 (GRCm39) |
W59* |
probably null |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,908,007 (GRCm39) |
Q271L |
possibly damaging |
Het |
| Ltc4s |
C |
A |
11: 50,127,511 (GRCm39) |
R108L |
possibly damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,313,693 (GRCm39) |
S596P |
possibly damaging |
Het |
| Myot |
A |
G |
18: 44,470,166 (GRCm39) |
T48A |
probably benign |
Het |
| Mypn |
G |
C |
10: 62,971,539 (GRCm39) |
P834A |
probably damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,441 (GRCm39) |
N177S |
possibly damaging |
Het |
| Or8k30 |
C |
T |
2: 86,339,025 (GRCm39) |
S74L |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,124 (GRCm39) |
K615E |
probably benign |
Het |
| Pramel6 |
A |
C |
2: 87,340,814 (GRCm39) |
Q382P |
probably damaging |
Het |
| Prdx2 |
A |
G |
8: 85,698,244 (GRCm39) |
D145G |
probably damaging |
Het |
| Prune1 |
A |
G |
3: 95,172,837 (GRCm39) |
V76A |
probably benign |
Het |
| Sppl2b |
A |
T |
10: 80,699,025 (GRCm39) |
H198L |
probably benign |
Het |
| Ttll9 |
C |
A |
2: 152,836,068 (GRCm39) |
H271N |
probably benign |
Het |
| Vmn2r59 |
C |
A |
7: 41,661,247 (GRCm39) |
R856M |
probably benign |
Het |
| Yeats2 |
C |
T |
16: 20,041,575 (GRCm39) |
T1155I |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 74,989,034 (GRCm39) |
|
probably null |
Het |
| Zfp160 |
A |
G |
17: 21,245,804 (GRCm39) |
D118G |
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,380,551 (GRCm39) |
M549V |
possibly damaging |
Het |
| Zp3r |
A |
G |
1: 130,526,610 (GRCm39) |
S198P |
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 |
|
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'- ATTTACCAACCAGGACTAGTGAC -3'
(R):5'- GCAATTGATTGTTCTGCAACTGC -3'
Sequencing Primer
(F):5'- TTACCAACCAGGACTAGTGACAAAAG -3'
(R):5'- GCAACTGCACTACAAAAACATG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation