Incidental Mutation 'R2911:Cyp2c65'
ID |
261280 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c65
|
Ensembl Gene |
ENSMUSG00000067231 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 65 |
Synonyms |
2210009K14Rik |
MMRRC Submission |
040498-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R2911 (G1)
|
Quality Score |
223 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
39049459-39082388 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 39076126 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 359
(I359M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084489
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087236]
|
AlphaFold |
Q148B1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087236
AA Change: I359M
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000084489 Gene: ENSMUSG00000067231 AA Change: I359M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
2.1e-160 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
A |
G |
16: 20,378,982 (GRCm39) |
T645A |
probably damaging |
Het |
Adam10 |
C |
T |
9: 70,626,005 (GRCm39) |
S91L |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,989,018 (GRCm39) |
D3434G |
probably damaging |
Het |
Ankrd11 |
A |
T |
8: 123,635,537 (GRCm39) |
D32E |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,497,553 (GRCm39) |
|
probably null |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cep104 |
T |
A |
4: 154,079,884 (GRCm39) |
|
probably null |
Het |
Clstn2 |
A |
G |
9: 97,414,775 (GRCm39) |
V373A |
probably damaging |
Het |
Cyp4a12b |
A |
T |
4: 115,290,723 (GRCm39) |
K282* |
probably null |
Het |
Ddx1 |
C |
T |
12: 13,281,441 (GRCm39) |
|
probably null |
Het |
Dnah7a |
A |
T |
1: 53,466,983 (GRCm39) |
|
probably null |
Het |
Dzip1l |
T |
C |
9: 99,537,655 (GRCm39) |
V419A |
probably benign |
Het |
Epha3 |
A |
C |
16: 63,472,775 (GRCm39) |
V370G |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,652,878 (GRCm39) |
D523G |
probably benign |
Het |
Fryl |
T |
C |
5: 73,207,799 (GRCm39) |
D2457G |
probably damaging |
Het |
Gm379 |
A |
C |
X: 107,708,371 (GRCm39) |
F43V |
possibly damaging |
Het |
Grhl3 |
T |
C |
4: 135,286,457 (GRCm39) |
I75V |
probably benign |
Het |
Lcp2 |
G |
A |
11: 34,018,970 (GRCm39) |
|
probably null |
Het |
Lipo3 |
T |
A |
19: 33,556,767 (GRCm39) |
I220F |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,396,704 (GRCm39) |
E340G |
probably benign |
Het |
Lypd8l |
G |
A |
11: 58,499,252 (GRCm39) |
Q189* |
probably null |
Het |
Mbtps1 |
A |
G |
8: 120,272,776 (GRCm39) |
I123T |
possibly damaging |
Het |
Ndc80 |
A |
T |
17: 71,807,371 (GRCm39) |
S528R |
probably benign |
Het |
Odf2l |
A |
C |
3: 144,830,084 (GRCm39) |
I19L |
probably benign |
Het |
Or10d3 |
T |
C |
9: 39,462,117 (GRCm39) |
I17V |
possibly damaging |
Het |
Or5h25 |
C |
T |
16: 58,930,544 (GRCm39) |
R143H |
probably benign |
Het |
Or7e177 |
A |
G |
9: 20,211,775 (GRCm39) |
K94R |
possibly damaging |
Het |
Pigr |
A |
G |
1: 130,777,270 (GRCm39) |
D692G |
probably damaging |
Het |
Reep2 |
T |
C |
18: 34,978,743 (GRCm39) |
|
probably null |
Het |
Rin3 |
T |
G |
12: 102,339,843 (GRCm39) |
S598A |
probably benign |
Het |
Rreb1 |
A |
T |
13: 38,132,896 (GRCm39) |
E1690D |
probably benign |
Het |
Rubcnl |
C |
T |
14: 75,278,248 (GRCm39) |
T344I |
probably benign |
Het |
Shcbp1l |
C |
A |
1: 153,304,372 (GRCm39) |
L144I |
probably damaging |
Het |
Snx2 |
C |
T |
18: 53,332,946 (GRCm39) |
P207S |
probably damaging |
Het |
Sox17 |
A |
T |
1: 4,563,354 (GRCm39) |
D92E |
probably damaging |
Het |
Spata21 |
A |
G |
4: 140,830,393 (GRCm39) |
M288V |
possibly damaging |
Het |
Sra1 |
T |
C |
18: 36,809,238 (GRCm39) |
D273G |
possibly damaging |
Het |
Syt7 |
T |
C |
19: 10,420,799 (GRCm39) |
I448T |
probably benign |
Het |
Tac1 |
A |
G |
6: 7,559,097 (GRCm39) |
|
probably null |
Het |
Tgs1 |
C |
A |
4: 3,585,616 (GRCm39) |
N164K |
probably benign |
Het |
Tmem72 |
T |
A |
6: 116,675,292 (GRCm39) |
I67F |
possibly damaging |
Het |
Ythdc1 |
T |
C |
5: 86,964,418 (GRCm39) |
S88P |
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 |
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'- TTCAGAATACTGCCAGGCATCTTC -3'
(R):5'- GTAACCTGGAATTGCAAGACTCAG -3'
Sequencing Primer
(F):5'- TACAAGTGACCCCCGAGTTG -3'
(R):5'- GCAAGACTCAGTATCTTGGGC -3'
|
Posted On |
2015-01-23 |