Incidental Mutation 'R6400:Cyp2c65'
ID |
516145 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c65
|
Ensembl Gene |
ENSMUSG00000067231 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 65 |
Synonyms |
2210009K14Rik |
MMRRC Submission |
044547-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R6400 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39049459-39082388 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 39049558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 29
(L29F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084489
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087236]
|
AlphaFold |
Q148B1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087236
AA Change: L29F
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000084489 Gene: ENSMUSG00000067231 AA Change: L29F
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 |
0.1480 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.2%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,638,435 (GRCm39) |
*160Q |
probably null |
Het |
Aen |
G |
A |
7: 78,557,142 (GRCm39) |
G330E |
probably benign |
Het |
Akap8l |
G |
A |
17: 32,555,294 (GRCm39) |
R262C |
probably damaging |
Het |
Cbx8 |
G |
A |
11: 118,929,694 (GRCm39) |
Q300* |
probably null |
Het |
Cd274 |
C |
T |
19: 29,362,808 (GRCm39) |
T290M |
probably damaging |
Het |
Cd36 |
A |
C |
5: 18,019,721 (GRCm39) |
S127A |
probably damaging |
Het |
Celf3 |
A |
G |
3: 94,387,593 (GRCm39) |
Y55C |
probably damaging |
Het |
Clec1a |
A |
T |
6: 129,412,316 (GRCm39) |
|
probably null |
Het |
Cog2 |
A |
T |
8: 125,277,045 (GRCm39) |
I684F |
probably damaging |
Het |
Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
Dytn |
A |
T |
1: 63,680,335 (GRCm39) |
L408* |
probably null |
Het |
Flg |
A |
G |
3: 93,187,228 (GRCm39) |
T227A |
probably benign |
Het |
Heatr4 |
T |
A |
12: 84,001,784 (GRCm39) |
K887M |
probably null |
Het |
Hoxb1 |
C |
T |
11: 96,256,818 (GRCm39) |
Q56* |
probably null |
Het |
Kcnh7 |
T |
A |
2: 62,569,688 (GRCm39) |
N736I |
probably damaging |
Het |
Lgr4 |
T |
C |
2: 109,821,478 (GRCm39) |
V120A |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,458,397 (GRCm39) |
Y326C |
possibly damaging |
Het |
Map3k1 |
A |
T |
13: 111,892,259 (GRCm39) |
S999T |
probably damaging |
Het |
Med12l |
T |
C |
3: 59,155,332 (GRCm39) |
F1171L |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,412,402 (GRCm39) |
S1783P |
unknown |
Het |
Nbr1 |
T |
C |
11: 101,456,600 (GRCm39) |
L159P |
probably damaging |
Het |
Nme9 |
T |
C |
9: 99,351,760 (GRCm39) |
F248S |
possibly damaging |
Het |
Or4x11 |
C |
T |
2: 89,867,739 (GRCm39) |
L159F |
probably benign |
Het |
Or6k2 |
T |
C |
1: 173,986,830 (GRCm39) |
S164P |
probably damaging |
Het |
Rasgrf1 |
C |
T |
9: 89,873,683 (GRCm39) |
T664I |
probably damaging |
Het |
Setx |
A |
G |
2: 29,020,286 (GRCm39) |
D91G |
probably damaging |
Het |
Stim1 |
A |
G |
7: 102,080,157 (GRCm39) |
R514G |
probably null |
Het |
Svep1 |
C |
A |
4: 58,049,169 (GRCm39) |
G3446V |
probably damaging |
Het |
Tcte2 |
T |
A |
17: 13,942,714 (GRCm39) |
|
probably benign |
Het |
Trmt10b |
A |
G |
4: 45,308,562 (GRCm39) |
K239E |
probably damaging |
Het |
Wdr70 |
A |
T |
15: 8,072,322 (GRCm39) |
S189T |
probably benign |
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 |
R0378:Cyp2c65
|
UTSW |
19 |
39,061,662 (GRCm39) |
missense |
probably benign |
0.19 |
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 |
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'- TCAGAGAATCACGGATGTATTAGC -3'
(R):5'- AAGTAGCCCATCAAGCTTAGG -3'
Sequencing Primer
(F):5'- ATCACGGATGTATTAGCAGTTGTCC -3'
(R):5'- TCTATTGTATAGAGCAGGCCCAGC -3'
|
Posted On |
2018-05-04 |