Incidental Mutation 'IGL01145:Cyp2c66'
| ID |
53300 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2c66
|
| Ensembl Gene |
ENSMUSG00000067229 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 66 |
| Synonyms |
2010301M18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
IGL01145
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
39102342-39175200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 39159405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 285
(E285D)
|
| 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: E285D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000084487
Gene: ENSMUSG00000067229
AA Change: E285D
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
C |
7: 78,749,030 (GRCm39) |
D1267A |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,801,418 (GRCm39) |
|
probably null |
Het |
| Arap3 |
T |
C |
18: 38,122,232 (GRCm39) |
M619V |
probably benign |
Het |
| C8b |
A |
T |
4: 104,637,777 (GRCm39) |
Y83F |
probably benign |
Het |
| Capn15 |
A |
G |
17: 26,182,024 (GRCm39) |
V595A |
probably damaging |
Het |
| Cbx1 |
A |
T |
11: 96,692,392 (GRCm39) |
D93V |
probably benign |
Het |
| Dkk4 |
T |
A |
8: 23,115,402 (GRCm39) |
V84D |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 117,937,999 (GRCm39) |
I3343F |
possibly damaging |
Het |
| Dus3l |
T |
C |
17: 57,074,627 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
C |
4: 58,811,501 (GRCm39) |
D1467E |
probably null |
Het |
| Eif6 |
A |
G |
2: 155,668,355 (GRCm39) |
|
probably benign |
Het |
| Eya3 |
A |
G |
4: 132,437,306 (GRCm39) |
I389V |
probably damaging |
Het |
| Gm5916 |
A |
T |
9: 36,031,998 (GRCm39) |
D95E |
unknown |
Het |
| Gucy2d |
T |
A |
7: 98,099,170 (GRCm39) |
S329T |
probably benign |
Het |
| Hook3 |
C |
T |
8: 26,549,372 (GRCm39) |
M157I |
probably benign |
Het |
| Iapp |
C |
A |
6: 142,249,090 (GRCm39) |
R48S |
probably damaging |
Het |
| Ints11 |
A |
G |
4: 155,969,583 (GRCm39) |
Y153C |
probably damaging |
Het |
| Layn |
G |
A |
9: 50,985,346 (GRCm39) |
T62I |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,744,631 (GRCm39) |
H876R |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,317,396 (GRCm39) |
I840T |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,762,658 (GRCm39) |
F796L |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,545,629 (GRCm39) |
S1300P |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,093,847 (GRCm39) |
I602N |
probably damaging |
Het |
| Omt2a |
T |
C |
9: 78,220,238 (GRCm39) |
M64V |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,038,809 (GRCm39) |
S2025P |
probably damaging |
Het |
| Pemt |
A |
G |
11: 59,874,293 (GRCm39) |
L62P |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,576,971 (GRCm39) |
V399A |
probably benign |
Het |
| Rasgrp4 |
T |
C |
7: 28,850,898 (GRCm39) |
S77P |
possibly damaging |
Het |
| Rrm2b |
G |
A |
15: 37,944,804 (GRCm39) |
P111L |
probably damaging |
Het |
| Slc10a4-ps |
A |
T |
5: 72,743,547 (GRCm39) |
|
probably null |
Het |
| Thap12 |
A |
G |
7: 98,362,110 (GRCm39) |
*121W |
probably null |
Het |
| Tnik |
A |
G |
3: 28,658,316 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
A |
15: 27,818,253 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,310,407 (GRCm39) |
E930G |
probably damaging |
Het |
| Zfp335 |
G |
T |
2: 164,749,422 (GRCm39) |
T299K |
probably benign |
Het |
|
| Other mutations in Cyp2c66 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation