Incidental Mutation 'R0378:Cyp2c65'
ID |
36492 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c65
|
Ensembl Gene |
ENSMUSG00000067231 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 65 |
Synonyms |
2210009K14Rik |
MMRRC Submission |
038584-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R0378 (G1)
|
Quality Score |
206 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39049459-39082388 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 39061662 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 216
(C216F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084489
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087236]
|
AlphaFold |
Q148B1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087236
AA Change: C216F
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000084489 Gene: ENSMUSG00000067231 AA Change: C216F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
2.1e-160 |
PFAM |
|
Meta Mutation Damage Score |
0.1387 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
95% (40/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
C |
A |
8: 114,469,749 (GRCm39) |
R651L |
probably damaging |
Het |
Amd1 |
T |
C |
10: 40,165,380 (GRCm39) |
D317G |
possibly damaging |
Het |
Artn |
A |
G |
4: 117,784,815 (GRCm39) |
|
probably benign |
Het |
Bub1b |
T |
A |
2: 118,471,604 (GRCm39) |
V988E |
probably benign |
Het |
Cyp3a11 |
T |
C |
5: 145,805,417 (GRCm39) |
E200G |
probably benign |
Het |
Cyp3a25 |
T |
A |
5: 145,923,652 (GRCm39) |
K330N |
probably damaging |
Het |
Duox2 |
C |
A |
2: 122,115,064 (GRCm39) |
V1138L |
probably benign |
Het |
Erc2 |
A |
G |
14: 27,733,651 (GRCm39) |
D567G |
probably damaging |
Het |
Eri2 |
A |
G |
7: 119,393,139 (GRCm39) |
|
probably null |
Het |
Foxa3 |
A |
G |
7: 18,757,294 (GRCm39) |
Y17H |
probably damaging |
Het |
Fto |
T |
C |
8: 92,200,940 (GRCm39) |
S324P |
probably damaging |
Het |
Get3 |
A |
T |
8: 85,751,893 (GRCm39) |
M1K |
probably null |
Het |
Gls2 |
T |
G |
10: 128,043,180 (GRCm39) |
L457R |
probably benign |
Het |
Gstcd |
A |
T |
3: 132,692,169 (GRCm39) |
L582H |
probably damaging |
Het |
Gtf3c1 |
G |
A |
7: 125,246,786 (GRCm39) |
R1508* |
probably null |
Het |
Kif21a |
T |
C |
15: 90,853,977 (GRCm39) |
|
probably null |
Het |
Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
Lgr5 |
T |
C |
10: 115,290,404 (GRCm39) |
D456G |
probably damaging |
Het |
Mau2 |
A |
G |
8: 70,483,305 (GRCm39) |
S186P |
probably damaging |
Het |
Msr1 |
T |
C |
8: 40,042,423 (GRCm39) |
D384G |
possibly damaging |
Het |
Ncf4 |
T |
C |
15: 78,137,503 (GRCm39) |
V93A |
probably damaging |
Het |
Oas1f |
T |
G |
5: 120,994,489 (GRCm39) |
C337G |
probably damaging |
Het |
Or10al3 |
A |
G |
17: 38,011,932 (GRCm39) |
M124V |
probably damaging |
Het |
Or5p58 |
A |
T |
7: 107,694,429 (GRCm39) |
F116Y |
probably benign |
Het |
Or6c33 |
T |
A |
10: 129,853,872 (GRCm39) |
L214H |
probably damaging |
Het |
Pwwp3a |
C |
A |
10: 80,074,713 (GRCm39) |
|
probably null |
Het |
Rasl10b |
T |
C |
11: 83,309,519 (GRCm39) |
S159P |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Smg8 |
C |
A |
11: 86,971,249 (GRCm39) |
D841Y |
probably damaging |
Het |
Sox7 |
T |
C |
14: 64,181,398 (GRCm39) |
V65A |
probably damaging |
Het |
Sp140 |
C |
T |
1: 85,547,772 (GRCm39) |
|
probably benign |
Het |
Srsf10 |
A |
G |
4: 135,590,501 (GRCm39) |
Y142C |
possibly damaging |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tcerg1l |
A |
G |
7: 137,878,384 (GRCm39) |
V326A |
probably benign |
Het |
Tcl1b5 |
T |
A |
12: 105,145,326 (GRCm39) |
W97R |
probably damaging |
Het |
Tmem108 |
T |
C |
9: 103,376,856 (GRCm39) |
R198G |
possibly damaging |
Het |
Ube2ql1 |
T |
A |
13: 69,887,017 (GRCm39) |
Q148L |
possibly damaging |
Het |
Vmn1r5 |
A |
T |
6: 56,962,570 (GRCm39) |
I82L |
probably benign |
Het |
Wdr6 |
A |
T |
9: 108,453,063 (GRCm39) |
S273R |
probably damaging |
Het |
Ylpm1 |
C |
T |
12: 85,043,850 (GRCm39) |
|
probably benign |
Het |
Zfp90 |
G |
A |
8: 107,152,138 (GRCm39) |
R617Q |
possibly damaging |
Het |
|
Other mutations in Cyp2c65 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01122:Cyp2c65
|
APN |
19 |
39,060,621 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01124:Cyp2c65
|
APN |
19 |
39,081,954 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01895:Cyp2c65
|
APN |
19 |
39,060,676 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02544:Cyp2c65
|
APN |
19 |
39,079,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R0172:Cyp2c65
|
UTSW |
19 |
39,076,100 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0517:Cyp2c65
|
UTSW |
19 |
39,070,792 (GRCm39) |
splice site |
probably benign |
|
R0585:Cyp2c65
|
UTSW |
19 |
39,057,686 (GRCm39) |
missense |
probably benign |
0.00 |
R1770:Cyp2c65
|
UTSW |
19 |
39,070,642 (GRCm39) |
missense |
probably benign |
0.07 |
R2051:Cyp2c65
|
UTSW |
19 |
39,070,675 (GRCm39) |
missense |
probably benign |
0.12 |
R2310:Cyp2c65
|
UTSW |
19 |
39,081,826 (GRCm39) |
missense |
probably benign |
0.02 |
R2911:Cyp2c65
|
UTSW |
19 |
39,076,126 (GRCm39) |
missense |
probably damaging |
0.96 |
R4208:Cyp2c65
|
UTSW |
19 |
39,079,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R4258:Cyp2c65
|
UTSW |
19 |
39,081,872 (GRCm39) |
missense |
probably benign |
0.41 |
R4734:Cyp2c65
|
UTSW |
19 |
39,060,778 (GRCm39) |
missense |
probably benign |
0.00 |
R4821:Cyp2c65
|
UTSW |
19 |
39,060,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R4926:Cyp2c65
|
UTSW |
19 |
39,049,597 (GRCm39) |
missense |
probably benign |
0.00 |
R5060:Cyp2c65
|
UTSW |
19 |
39,049,514 (GRCm39) |
missense |
unknown |
|
R5091:Cyp2c65
|
UTSW |
19 |
39,076,009 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5433:Cyp2c65
|
UTSW |
19 |
39,081,928 (GRCm39) |
missense |
probably benign |
0.00 |
R6051:Cyp2c65
|
UTSW |
19 |
39,049,610 (GRCm39) |
missense |
probably benign |
0.29 |
R6182:Cyp2c65
|
UTSW |
19 |
39,049,606 (GRCm39) |
missense |
probably benign |
0.18 |
R6400:Cyp2c65
|
UTSW |
19 |
39,049,558 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6586:Cyp2c65
|
UTSW |
19 |
39,070,662 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6672:Cyp2c65
|
UTSW |
19 |
39,076,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R6850:Cyp2c65
|
UTSW |
19 |
39,057,535 (GRCm39) |
missense |
probably benign |
0.15 |
R8075:Cyp2c65
|
UTSW |
19 |
39,060,682 (GRCm39) |
missense |
probably benign |
0.10 |
R8756:Cyp2c65
|
UTSW |
19 |
39,049,552 (GRCm39) |
nonsense |
probably null |
|
R9006:Cyp2c65
|
UTSW |
19 |
39,070,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R9031:Cyp2c65
|
UTSW |
19 |
39,061,663 (GRCm39) |
nonsense |
probably null |
|
R9231:Cyp2c65
|
UTSW |
19 |
39,060,661 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9663:Cyp2c65
|
UTSW |
19 |
39,079,070 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTAGGAACCCTGGAGTACAGCATTG -3'
(R):5'- GCTGGTCTGAGCCATTAAAATCTCCC -3'
Sequencing Primer
(F):5'- TGGTCTGCACAGGTTCACAG -3'
(R):5'- TGTAAACACAGACAATTCATGGGAC -3'
|
Posted On |
2013-05-09 |