Incidental Mutation 'R3404:Cyp2c66'
ID |
259308 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c66
|
Ensembl Gene |
ENSMUSG00000067229 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 66 |
Synonyms |
2010301M18Rik |
MMRRC Submission |
040622-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R3404 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39102342-39175200 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39151771 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 162
(V162A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087234]
[ENSMUST00000146494]
|
AlphaFold |
Q5GLZ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087234
AA Change: V162A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000084487 Gene: ENSMUSG00000067229 AA Change: V162A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
1e-157 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146494
|
SMART Domains |
Protein: ENSMUSP00000120397 Gene: ENSMUSG00000067229
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
SCOP:d1cpt__
|
26 |
55 |
4e-9 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.8%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
C |
T |
15: 64,571,449 (GRCm39) |
V1065M |
probably damaging |
Het |
Alg12 |
A |
T |
15: 88,698,782 (GRCm39) |
I181N |
probably damaging |
Het |
Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
Ankar |
T |
A |
1: 72,682,252 (GRCm39) |
K1220* |
probably null |
Het |
Apc |
A |
G |
18: 34,446,655 (GRCm39) |
T1150A |
probably benign |
Het |
Baz1a |
C |
T |
12: 54,963,774 (GRCm39) |
S770N |
probably benign |
Het |
Bcorl1 |
T |
A |
X: 47,459,884 (GRCm39) |
M1139K |
probably benign |
Het |
Bdkrb2 |
T |
C |
12: 105,558,755 (GRCm39) |
V332A |
possibly damaging |
Het |
Bnc2 |
G |
T |
4: 84,464,478 (GRCm39) |
N20K |
probably damaging |
Het |
Brip1 |
T |
A |
11: 86,034,089 (GRCm39) |
N544I |
possibly damaging |
Het |
Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
Dnai1 |
A |
T |
4: 41,603,246 (GRCm39) |
E176D |
probably benign |
Het |
Dnhd1 |
C |
T |
7: 105,343,968 (GRCm39) |
Q1771* |
probably null |
Het |
Fezf1 |
A |
T |
6: 23,247,283 (GRCm39) |
V264D |
probably benign |
Het |
Gsdma |
T |
C |
11: 98,563,964 (GRCm39) |
|
probably benign |
Het |
Hemk1 |
G |
A |
9: 107,214,415 (GRCm39) |
Q6* |
probably null |
Het |
Hspa13 |
C |
A |
16: 75,554,914 (GRCm39) |
E391* |
probably null |
Het |
Ighv1-53 |
T |
A |
12: 115,122,058 (GRCm39) |
T106S |
possibly damaging |
Het |
Immp2l |
T |
A |
12: 41,160,846 (GRCm39) |
L48* |
probably null |
Het |
Itgam |
A |
G |
7: 127,669,875 (GRCm39) |
|
probably null |
Het |
Ltn1 |
A |
T |
16: 87,213,103 (GRCm39) |
V486D |
probably damaging |
Het |
Mki67 |
T |
A |
7: 135,309,204 (GRCm39) |
T416S |
probably benign |
Het |
Mycbp2 |
C |
A |
14: 103,437,550 (GRCm39) |
C2104F |
probably damaging |
Het |
Nlrp2 |
T |
C |
7: 5,322,286 (GRCm39) |
D49G |
probably benign |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
Prkd1 |
C |
T |
12: 50,695,687 (GRCm39) |
A24T |
unknown |
Het |
Pzp |
G |
A |
6: 128,490,769 (GRCm39) |
T398M |
probably damaging |
Het |
Rbfox3 |
T |
A |
11: 118,387,283 (GRCm39) |
Q277L |
possibly damaging |
Het |
Rnf146 |
A |
G |
10: 29,223,424 (GRCm39) |
V154A |
possibly damaging |
Het |
Senp7 |
T |
A |
16: 56,008,640 (GRCm39) |
W1007R |
probably damaging |
Het |
Snx31 |
C |
T |
15: 36,525,799 (GRCm39) |
C300Y |
probably benign |
Het |
Ticrr |
G |
C |
7: 79,344,539 (GRCm39) |
S1468T |
probably benign |
Het |
Trim33 |
A |
G |
3: 103,228,875 (GRCm39) |
E327G |
probably damaging |
Het |
Ubap2l |
T |
C |
3: 89,946,157 (GRCm39) |
E149G |
probably damaging |
Het |
Ube4a |
A |
G |
9: 44,840,985 (GRCm39) |
S979P |
probably damaging |
Het |
Uvssa |
G |
T |
5: 33,547,162 (GRCm39) |
G243C |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,926,200 (GRCm39) |
S3834P |
probably damaging |
Het |
Zfp609 |
A |
T |
9: 65,608,454 (GRCm39) |
M1142K |
possibly damaging |
Het |
Zfp729b |
T |
G |
13: 67,739,283 (GRCm39) |
H994P |
probably damaging |
Het |
|
Other mutations in Cyp2c66 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01145:Cyp2c66
|
APN |
19 |
39,159,405 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01589:Cyp2c66
|
APN |
19 |
39,172,379 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02098:Cyp2c66
|
APN |
19 |
39,159,473 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02114:Cyp2c66
|
APN |
19 |
39,159,519 (GRCm39) |
splice site |
probably benign |
|
IGL02567:Cyp2c66
|
APN |
19 |
39,175,084 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03181:Cyp2c66
|
APN |
19 |
39,130,483 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03230:Cyp2c66
|
APN |
19 |
39,172,302 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0007:Cyp2c66
|
UTSW |
19 |
39,159,402 (GRCm39) |
nonsense |
probably null |
|
R0092:Cyp2c66
|
UTSW |
19 |
39,172,224 (GRCm39) |
splice site |
probably benign |
|
R0242:Cyp2c66
|
UTSW |
19 |
39,130,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Cyp2c66
|
UTSW |
19 |
39,130,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R0324:Cyp2c66
|
UTSW |
19 |
39,165,135 (GRCm39) |
missense |
probably benign |
0.27 |
R0675:Cyp2c66
|
UTSW |
19 |
39,175,060 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1127:Cyp2c66
|
UTSW |
19 |
39,151,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R1871:Cyp2c66
|
UTSW |
19 |
39,151,858 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3429:Cyp2c66
|
UTSW |
19 |
39,151,892 (GRCm39) |
missense |
probably damaging |
0.97 |
R3896:Cyp2c66
|
UTSW |
19 |
39,130,722 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4115:Cyp2c66
|
UTSW |
19 |
39,165,003 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4116:Cyp2c66
|
UTSW |
19 |
39,165,003 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4667:Cyp2c66
|
UTSW |
19 |
39,165,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R4668:Cyp2c66
|
UTSW |
19 |
39,165,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R4711:Cyp2c66
|
UTSW |
19 |
39,151,843 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4960:Cyp2c66
|
UTSW |
19 |
39,151,766 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5070:Cyp2c66
|
UTSW |
19 |
39,151,914 (GRCm39) |
missense |
probably benign |
0.15 |
R5113:Cyp2c66
|
UTSW |
19 |
39,151,882 (GRCm39) |
missense |
probably benign |
0.00 |
R5125:Cyp2c66
|
UTSW |
19 |
39,159,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R5178:Cyp2c66
|
UTSW |
19 |
39,159,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R5588:Cyp2c66
|
UTSW |
19 |
39,151,858 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6011:Cyp2c66
|
UTSW |
19 |
39,130,380 (GRCm39) |
missense |
probably benign |
0.00 |
R6497:Cyp2c66
|
UTSW |
19 |
39,151,821 (GRCm39) |
missense |
probably damaging |
0.96 |
R6707:Cyp2c66
|
UTSW |
19 |
39,174,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R7173:Cyp2c66
|
UTSW |
19 |
39,159,401 (GRCm39) |
missense |
probably benign |
0.01 |
R7202:Cyp2c66
|
UTSW |
19 |
39,130,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Cyp2c66
|
UTSW |
19 |
39,172,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R7614:Cyp2c66
|
UTSW |
19 |
39,159,472 (GRCm39) |
missense |
probably damaging |
0.98 |
R7985:Cyp2c66
|
UTSW |
19 |
39,102,430 (GRCm39) |
missense |
probably null |
1.00 |
R8012:Cyp2c66
|
UTSW |
19 |
39,172,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R8056:Cyp2c66
|
UTSW |
19 |
39,130,485 (GRCm39) |
missense |
probably benign |
0.00 |
R8302:Cyp2c66
|
UTSW |
19 |
39,165,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R8329:Cyp2c66
|
UTSW |
19 |
39,174,906 (GRCm39) |
nonsense |
probably null |
|
R8365:Cyp2c66
|
UTSW |
19 |
39,165,048 (GRCm39) |
missense |
probably benign |
0.00 |
R8472:Cyp2c66
|
UTSW |
19 |
39,165,021 (GRCm39) |
missense |
probably benign |
0.03 |
R8502:Cyp2c66
|
UTSW |
19 |
39,130,773 (GRCm39) |
missense |
probably benign |
0.01 |
R8688:Cyp2c66
|
UTSW |
19 |
39,151,884 (GRCm39) |
missense |
probably benign |
0.00 |
R8715:Cyp2c66
|
UTSW |
19 |
39,159,388 (GRCm39) |
missense |
probably benign |
0.01 |
R9199:Cyp2c66
|
UTSW |
19 |
39,130,800 (GRCm39) |
missense |
probably benign |
0.16 |
R9551:Cyp2c66
|
UTSW |
19 |
39,172,246 (GRCm39) |
missense |
probably damaging |
0.99 |
R9552:Cyp2c66
|
UTSW |
19 |
39,172,246 (GRCm39) |
missense |
probably damaging |
0.99 |
R9601:Cyp2c66
|
UTSW |
19 |
39,175,054 (GRCm39) |
missense |
probably benign |
|
R9777:Cyp2c66
|
UTSW |
19 |
39,102,520 (GRCm39) |
missense |
probably benign |
0.15 |
Z1177:Cyp2c66
|
UTSW |
19 |
39,175,070 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTACAGGGAAATGCCAG -3'
(R):5'- CAGTGAACAGTGTTCTAACAGC -3'
Sequencing Primer
(F):5'- TGGGATAGCATTGGAAATGTAATTG -3'
(R):5'- AACAGTGTTCTAACAGCCTTCATTTC -3'
|
Posted On |
2015-01-23 |