Incidental Mutation 'R5060:Cyp2c65'
ID |
386584 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c65
|
Ensembl Gene |
ENSMUSG00000067231 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 65 |
Synonyms |
2210009K14Rik |
MMRRC Submission |
042650-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R5060 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39049459-39082388 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39049514 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 14
(L14P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084489
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087236]
|
AlphaFold |
Q148B1 |
Predicted Effect |
unknown
Transcript: ENSMUST00000087236
AA Change: L14P
|
SMART Domains |
Protein: ENSMUSP00000084489 Gene: ENSMUSG00000067231 AA Change: L14P
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 |
0.0869 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
T |
17: 48,474,107 (GRCm39) |
L17Q |
probably damaging |
Het |
Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
Abcc9 |
A |
G |
6: 142,571,836 (GRCm39) |
|
probably benign |
Het |
Actg1 |
A |
G |
11: 120,237,839 (GRCm39) |
S234P |
probably benign |
Het |
Acvr2a |
A |
G |
2: 48,780,311 (GRCm39) |
D177G |
probably damaging |
Het |
Adamts12 |
T |
C |
15: 11,300,054 (GRCm39) |
C914R |
probably damaging |
Het |
Adprhl1 |
A |
G |
8: 13,298,621 (GRCm39) |
I103T |
possibly damaging |
Het |
Als2cl |
C |
T |
9: 110,713,205 (GRCm39) |
L32F |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,739,570 (GRCm39) |
|
probably benign |
Het |
Ankrd52 |
T |
A |
10: 128,225,710 (GRCm39) |
S959R |
possibly damaging |
Het |
Bnc2 |
C |
A |
4: 84,449,872 (GRCm39) |
A122S |
probably benign |
Het |
Cert1 |
A |
T |
13: 96,739,663 (GRCm39) |
K226N |
probably benign |
Het |
Cfap54 |
C |
T |
10: 92,875,013 (GRCm39) |
V443M |
probably damaging |
Het |
Cilk1 |
C |
T |
9: 78,060,978 (GRCm39) |
T208I |
probably benign |
Het |
Clca4b |
T |
A |
3: 144,617,267 (GRCm39) |
R794S |
probably damaging |
Het |
Ggt5 |
T |
C |
10: 75,440,608 (GRCm39) |
M243T |
probably benign |
Het |
Gmds |
A |
G |
13: 32,124,482 (GRCm39) |
I292T |
probably benign |
Het |
Gpcpd1 |
A |
T |
2: 132,386,355 (GRCm39) |
V341E |
probably damaging |
Het |
Grm3 |
A |
G |
5: 9,620,167 (GRCm39) |
F359S |
probably damaging |
Het |
Hcn1 |
A |
T |
13: 118,010,441 (GRCm39) |
K340* |
probably null |
Het |
Heatr9 |
T |
C |
11: 83,403,258 (GRCm39) |
E427G |
probably benign |
Het |
Kif26b |
G |
A |
1: 178,358,195 (GRCm39) |
G102D |
unknown |
Het |
Mark3 |
T |
C |
12: 111,584,760 (GRCm39) |
F119L |
probably damaging |
Het |
Melk |
T |
C |
4: 44,350,959 (GRCm39) |
V500A |
probably benign |
Het |
Mrpl41 |
A |
G |
2: 24,864,295 (GRCm39) |
F126L |
probably damaging |
Het |
Or10c1 |
C |
A |
17: 37,522,307 (GRCm39) |
A146S |
probably benign |
Het |
Or6c3b |
C |
T |
10: 129,527,699 (GRCm39) |
M70I |
probably benign |
Het |
Pax7 |
A |
T |
4: 139,506,928 (GRCm39) |
S372T |
probably benign |
Het |
Pax7 |
A |
T |
4: 139,556,906 (GRCm39) |
I118N |
probably damaging |
Het |
Plcl1 |
G |
T |
1: 55,735,671 (GRCm39) |
M337I |
possibly damaging |
Het |
Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
Rabgef1 |
A |
G |
5: 130,240,844 (GRCm39) |
Y321C |
probably damaging |
Het |
Rhobtb3 |
A |
C |
13: 76,061,389 (GRCm39) |
L252R |
probably benign |
Het |
Rlf |
A |
G |
4: 121,004,063 (GRCm39) |
V1639A |
probably benign |
Het |
Tff1 |
A |
G |
17: 31,381,682 (GRCm39) |
V65A |
probably damaging |
Het |
Trpm4 |
G |
T |
7: 44,971,258 (GRCm39) |
D222E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,643,741 (GRCm39) |
D13162E |
probably damaging |
Het |
Unc5d |
A |
T |
8: 29,209,723 (GRCm39) |
S466T |
probably benign |
Het |
Vmn1r73 |
A |
G |
7: 11,490,683 (GRCm39) |
Y167C |
probably damaging |
Het |
Vwde |
C |
T |
6: 13,208,323 (GRCm39) |
|
probably null |
Het |
Xpr1 |
T |
C |
1: 155,204,430 (GRCm39) |
|
probably null |
Het |
Zbtb40 |
A |
G |
4: 136,728,604 (GRCm39) |
V413A |
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 |
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 |
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'- GCCAGTACTTTAATCACGATGTTG -3'
(R):5'- ACATTGGCACTTCCCTTTGG -3'
Sequencing Primer
(F):5'- TGGAACAAAGTCCACTGGG -3'
(R):5'- CATTGGCACTTCCCTTTGGAGAAAG -3'
|
Posted On |
2016-06-06 |