Incidental Mutation 'R6011:Cyp2c66'
ID |
479783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c66
|
Ensembl Gene |
ENSMUSG00000067229 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 66 |
Synonyms |
2010301M18Rik |
MMRRC Submission |
043253-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R6011 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
39102342-39175200 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39130380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 72
(K72E)
|
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: K72E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000084487 Gene: ENSMUSG00000067229 AA Change: K72E
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,136,570 (GRCm39) |
N533K |
probably benign |
Het |
Adamts15 |
G |
T |
9: 30,814,082 (GRCm39) |
H694Q |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 34,977,598 (GRCm39) |
L377P |
probably benign |
Het |
Add2 |
T |
C |
6: 86,075,607 (GRCm39) |
L252P |
probably damaging |
Het |
Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
Ankrd13d |
A |
G |
19: 4,331,962 (GRCm39) |
L39P |
probably damaging |
Het |
Asic1 |
G |
T |
15: 99,596,960 (GRCm39) |
A541S |
probably benign |
Het |
Bhmt1b |
A |
G |
18: 87,774,663 (GRCm39) |
E62G |
probably damaging |
Het |
Bpifb2 |
A |
G |
2: 153,731,496 (GRCm39) |
|
probably null |
Het |
Catsper3 |
A |
G |
13: 55,934,305 (GRCm39) |
I75M |
probably damaging |
Het |
Ccser2 |
T |
C |
14: 36,601,532 (GRCm39) |
E837G |
probably benign |
Het |
Clasp2 |
C |
T |
9: 113,705,315 (GRCm39) |
P557L |
probably benign |
Het |
Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
Cplx3 |
A |
T |
9: 57,523,038 (GRCm39) |
D140E |
probably damaging |
Het |
Cyp3a44 |
A |
G |
5: 145,738,084 (GRCm39) |
|
probably null |
Het |
Disp2 |
G |
A |
2: 118,621,301 (GRCm39) |
V678I |
possibly damaging |
Het |
Dock4 |
T |
C |
12: 40,867,756 (GRCm39) |
|
probably null |
Het |
Eml3 |
T |
C |
19: 8,916,471 (GRCm39) |
Y688H |
probably damaging |
Het |
Fam187a |
A |
G |
11: 102,776,267 (GRCm39) |
K24E |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,870,068 (GRCm38) |
K134E |
probably benign |
Het |
Foxl3 |
A |
G |
5: 138,807,374 (GRCm39) |
*217W |
probably null |
Het |
Gm16485 |
A |
T |
9: 8,972,454 (GRCm39) |
|
probably benign |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Hmgxb3 |
G |
A |
18: 61,296,096 (GRCm39) |
T304I |
probably damaging |
Het |
Lgsn |
A |
G |
1: 31,242,847 (GRCm39) |
S310G |
probably damaging |
Het |
Muc21 |
T |
A |
17: 35,933,074 (GRCm39) |
|
probably benign |
Het |
Niban2 |
T |
C |
2: 32,812,877 (GRCm39) |
Y482H |
probably damaging |
Het |
Or12e13 |
A |
G |
2: 87,664,259 (GRCm39) |
N292S |
probably damaging |
Het |
Or4k42 |
C |
A |
2: 111,320,192 (GRCm39) |
A104S |
probably benign |
Het |
Or6c8b |
A |
T |
10: 128,882,508 (GRCm39) |
H141Q |
probably benign |
Het |
Or7g25 |
T |
A |
9: 19,159,807 (GRCm39) |
E296V |
probably damaging |
Het |
Or9i1b |
G |
A |
19: 13,896,521 (GRCm39) |
V46I |
probably benign |
Het |
Pelo |
A |
G |
13: 115,226,302 (GRCm39) |
S52P |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,096,080 (GRCm39) |
N528S |
probably benign |
Het |
Rfc3 |
T |
A |
5: 151,567,184 (GRCm39) |
I291L |
probably damaging |
Het |
Rpl35 |
A |
T |
2: 38,894,813 (GRCm39) |
|
probably null |
Het |
Sectm1b |
C |
T |
11: 120,946,704 (GRCm39) |
V64I |
possibly damaging |
Het |
Serpina12 |
A |
G |
12: 104,001,993 (GRCm39) |
M241T |
probably damaging |
Het |
Serpina1a |
T |
A |
12: 103,823,728 (GRCm39) |
D195V |
probably damaging |
Het |
Sesn2 |
C |
T |
4: 132,226,708 (GRCm39) |
V129M |
probably damaging |
Het |
Slc4a1 |
A |
C |
11: 102,243,357 (GRCm39) |
V758G |
probably damaging |
Het |
Tmx4 |
A |
T |
2: 134,481,756 (GRCm39) |
Y56N |
probably damaging |
Het |
Traj50 |
T |
C |
14: 54,405,091 (GRCm39) |
|
probably benign |
Het |
Trio |
T |
G |
15: 27,735,631 (GRCm39) |
K2820Q |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,434,309 (GRCm39) |
G2417S |
probably benign |
Het |
Usp32 |
T |
C |
11: 84,922,923 (GRCm39) |
D665G |
possibly 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 |
R3404:Cyp2c66
|
UTSW |
19 |
39,151,771 (GRCm39) |
missense |
probably benign |
|
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 |
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'- AAGCCTACCCAATCTCCTGG -3'
(R):5'- AACGGATTCATGGACACTTAGGC -3'
Sequencing Primer
(F):5'- AATCTCCTGGAAGGCATGTC -3'
(R):5'- TTCATGGACACTTAGGCACATGG -3'
|
Posted On |
2017-06-26 |