Incidental Mutation 'IGL02483:Cyp2c39'
| ID |
295299 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2c39
|
| Ensembl Gene |
ENSMUSG00000025003 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 39 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
IGL02483
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
39499306-39556973 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 39525231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 178
(I178N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025968]
|
| AlphaFold |
P56656 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025968
AA Change: I178N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025968
Gene: ENSMUSG00000025003
AA Change: I178N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
1.1e-163 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
G |
8: 84,451,882 (GRCm39) |
I512L |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,980,672 (GRCm39) |
T652N |
probably benign |
Het |
| Akr1b8 |
G |
A |
6: 34,340,729 (GRCm39) |
A209T |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,900,605 (GRCm39) |
H659L |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,218,170 (GRCm39) |
|
probably null |
Het |
| Car6 |
T |
A |
4: 150,280,586 (GRCm39) |
N86I |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,438,302 (GRCm39) |
E863V |
probably damaging |
Het |
| Cysltr1 |
C |
A |
X: 105,621,728 (GRCm39) |
V253L |
probably damaging |
Het |
| Dgcr6 |
G |
A |
16: 17,883,038 (GRCm39) |
A6T |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,226,362 (GRCm39) |
|
probably null |
Het |
| Erc2 |
T |
A |
14: 27,375,028 (GRCm39) |
L82Q |
probably damaging |
Het |
| Ercc6l |
T |
C |
X: 101,188,275 (GRCm39) |
T745A |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,635,990 (GRCm39) |
V54A |
possibly damaging |
Het |
| Foxd3 |
C |
T |
4: 99,545,265 (GRCm39) |
S135F |
probably damaging |
Het |
| Fut7 |
T |
A |
2: 25,313,888 (GRCm39) |
F21Y |
possibly damaging |
Het |
| Gata4 |
T |
C |
14: 63,437,910 (GRCm39) |
T414A |
probably benign |
Het |
| Gm4950 |
A |
T |
18: 51,998,406 (GRCm39) |
M183K |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,921,773 (GRCm39) |
D592G |
probably damaging |
Het |
| Hpd |
A |
T |
5: 123,320,641 (GRCm39) |
|
probably null |
Het |
| Imp4 |
T |
C |
1: 34,483,356 (GRCm39) |
|
probably null |
Het |
| Itgbl1 |
A |
T |
14: 124,065,155 (GRCm39) |
|
probably benign |
Het |
| Kcnt2 |
T |
C |
1: 140,282,299 (GRCm39) |
|
probably benign |
Het |
| Kdr |
C |
T |
5: 76,096,954 (GRCm39) |
|
probably null |
Het |
| Lca5 |
A |
T |
9: 83,305,170 (GRCm39) |
I212N |
probably damaging |
Het |
| Lgr6 |
T |
C |
1: 134,929,429 (GRCm39) |
|
probably benign |
Het |
| Lrrc28 |
T |
C |
7: 67,267,731 (GRCm39) |
|
probably benign |
Het |
| Madd |
T |
G |
2: 91,008,381 (GRCm39) |
T174P |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,349,318 (GRCm39) |
|
probably benign |
Het |
| Mcm3 |
A |
G |
1: 20,873,796 (GRCm39) |
S775P |
possibly damaging |
Het |
| Myh10 |
G |
A |
11: 68,692,994 (GRCm39) |
A1393T |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,374,295 (GRCm39) |
A541V |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,455,063 (GRCm39) |
Q2578* |
probably null |
Het |
| Nlrp4f |
T |
A |
13: 65,342,548 (GRCm39) |
T366S |
probably benign |
Het |
| Oma1 |
C |
T |
4: 103,182,309 (GRCm39) |
R271* |
probably null |
Het |
| Or10ak12 |
C |
T |
4: 118,666,696 (GRCm39) |
V122M |
probably benign |
Het |
| Or2g25 |
A |
G |
17: 37,970,363 (GRCm39) |
L287P |
probably damaging |
Het |
| Or4c111 |
G |
T |
2: 88,843,547 (GRCm39) |
T287N |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,903,688 (GRCm39) |
F1058S |
possibly damaging |
Het |
| Psen2 |
T |
A |
1: 180,062,626 (GRCm39) |
M239L |
probably damaging |
Het |
| Psme3ip1 |
A |
G |
8: 95,315,394 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,570,876 (GRCm39) |
I794T |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,187,861 (GRCm39) |
E506G |
probably damaging |
Het |
| Rnpepl1 |
C |
T |
1: 92,843,629 (GRCm39) |
P250S |
probably damaging |
Het |
| Sfr1 |
G |
A |
19: 47,721,227 (GRCm39) |
|
probably benign |
Het |
| Skic8 |
T |
C |
9: 54,635,545 (GRCm39) |
I19V |
probably damaging |
Het |
| Tmem184a |
T |
C |
5: 139,798,832 (GRCm39) |
E39G |
probably benign |
Het |
| Trim66 |
C |
T |
7: 109,076,837 (GRCm39) |
|
probably benign |
Het |
| Ugt2b35 |
A |
G |
5: 87,149,004 (GRCm39) |
Y85C |
possibly damaging |
Het |
| Uts2r |
G |
T |
11: 121,051,213 (GRCm39) |
G26C |
possibly damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,611 (GRCm39) |
E308D |
probably benign |
Het |
|
| Other mutations in Cyp2c39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00646:Cyp2c39
|
APN |
19 |
39,501,935 (GRCm39) |
splice site |
probably benign |
|
|
IGL01806:Cyp2c39
|
APN |
19 |
39,525,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02158:Cyp2c39
|
APN |
19 |
39,556,574 (GRCm39) |
missense |
probably benign |
|
|
IGL02219:Cyp2c39
|
APN |
19 |
39,556,643 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02490:Cyp2c39
|
APN |
19 |
39,527,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02597:Cyp2c39
|
APN |
19 |
39,549,331 (GRCm39) |
nonsense |
probably null |
|
|
IGL03089:Cyp2c39
|
APN |
19 |
39,552,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03197:Cyp2c39
|
APN |
19 |
39,555,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03392:Cyp2c39
|
APN |
19 |
39,501,767 (GRCm39) |
missense |
probably benign |
0.40 |
|
G1citation:Cyp2c39
|
UTSW |
19 |
39,525,261 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0086:Cyp2c39
|
UTSW |
19 |
39,499,357 (GRCm39) |
missense |
unknown |
|
|
R0369:Cyp2c39
|
UTSW |
19 |
39,502,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0585:Cyp2c39
|
UTSW |
19 |
39,525,203 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0586:Cyp2c39
|
UTSW |
19 |
39,501,934 (GRCm39) |
splice site |
probably benign |
|
|
R0906:Cyp2c39
|
UTSW |
19 |
39,499,315 (GRCm39) |
start codon destroyed |
probably null |
|
|
R1613:Cyp2c39
|
UTSW |
19 |
39,527,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1711:Cyp2c39
|
UTSW |
19 |
39,555,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1780:Cyp2c39
|
UTSW |
19 |
39,527,295 (GRCm39) |
splice site |
probably benign |
|
|
R2208:Cyp2c39
|
UTSW |
19 |
39,549,405 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2327:Cyp2c39
|
UTSW |
19 |
39,527,397 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3431:Cyp2c39
|
UTSW |
19 |
39,525,306 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4847:Cyp2c39
|
UTSW |
19 |
39,549,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Cyp2c39
|
UTSW |
19 |
39,502,020 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4900:Cyp2c39
|
UTSW |
19 |
39,502,020 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4974:Cyp2c39
|
UTSW |
19 |
39,552,323 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5159:Cyp2c39
|
UTSW |
19 |
39,549,378 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5470:Cyp2c39
|
UTSW |
19 |
39,501,974 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5860:Cyp2c39
|
UTSW |
19 |
39,525,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6013:Cyp2c39
|
UTSW |
19 |
39,501,969 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6018:Cyp2c39
|
UTSW |
19 |
39,499,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Cyp2c39
|
UTSW |
19 |
39,525,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6261:Cyp2c39
|
UTSW |
19 |
39,556,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6345:Cyp2c39
|
UTSW |
19 |
39,501,616 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6345:Cyp2c39
|
UTSW |
19 |
39,501,615 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6822:Cyp2c39
|
UTSW |
19 |
39,525,261 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6925:Cyp2c39
|
UTSW |
19 |
39,501,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7578:Cyp2c39
|
UTSW |
19 |
39,499,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Cyp2c39
|
UTSW |
19 |
39,549,405 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8032:Cyp2c39
|
UTSW |
19 |
39,499,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8293:Cyp2c39
|
UTSW |
19 |
39,552,411 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8393:Cyp2c39
|
UTSW |
19 |
39,525,255 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8954:Cyp2c39
|
UTSW |
19 |
39,525,197 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8985:Cyp2c39
|
UTSW |
19 |
39,552,419 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9146:Cyp2c39
|
UTSW |
19 |
39,527,344 (GRCm39) |
missense |
|
|
|
R9224:Cyp2c39
|
UTSW |
19 |
39,527,332 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9472:Cyp2c39
|
UTSW |
19 |
39,502,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9615:Cyp2c39
|
UTSW |
19 |
39,501,617 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9616:Cyp2c39
|
UTSW |
19 |
39,501,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Cyp2c39
|
UTSW |
19 |
39,556,493 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Posted On |
2015-04-16 |
Incidental Mutation