Incidental Mutation 'IGL03089:Cyp2c39'
ID |
418264 |
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: 0.100)
|
Stock # |
IGL03089
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
39499306-39556973 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 39552295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 329
(H329Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025968
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025968]
|
AlphaFold |
P56656 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025968
AA Change: H329Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000025968 Gene: ENSMUSG00000025003 AA Change: H329Q
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 |
Adamtsl4 |
A |
G |
3: 95,584,556 (GRCm39) |
S947P |
probably damaging |
Het |
Agl |
T |
A |
3: 116,574,672 (GRCm39) |
H709L |
probably damaging |
Het |
Alpi |
T |
A |
1: 87,027,830 (GRCm39) |
D250V |
probably benign |
Het |
Anapc4 |
A |
G |
5: 53,023,740 (GRCm39) |
S735G |
probably benign |
Het |
Ank1 |
A |
T |
8: 23,594,848 (GRCm39) |
I611L |
probably benign |
Het |
Canx |
A |
G |
11: 50,195,309 (GRCm39) |
V253A |
possibly damaging |
Het |
Cbfa2t3 |
A |
T |
8: 123,361,873 (GRCm39) |
I383N |
probably damaging |
Het |
Ccn3 |
C |
T |
15: 54,612,680 (GRCm39) |
R230C |
possibly damaging |
Het |
Cdc23 |
T |
C |
18: 34,767,513 (GRCm39) |
Y519C |
probably damaging |
Het |
Celsr3 |
T |
A |
9: 108,703,806 (GRCm39) |
N96K |
probably benign |
Het |
Clptm1 |
A |
G |
7: 19,371,072 (GRCm39) |
Y355H |
probably damaging |
Het |
Col6a5 |
C |
T |
9: 105,811,038 (GRCm39) |
S827N |
unknown |
Het |
Cyp21a1 |
G |
T |
17: 35,022,420 (GRCm39) |
|
probably null |
Het |
Cyp24a1 |
T |
G |
2: 170,327,886 (GRCm39) |
H452P |
probably damaging |
Het |
D630003M21Rik |
C |
T |
2: 158,058,664 (GRCm39) |
R412Q |
probably benign |
Het |
Dennd1b |
G |
A |
1: 139,029,767 (GRCm39) |
R308Q |
possibly damaging |
Het |
Deup1 |
T |
C |
9: 15,519,096 (GRCm39) |
S137G |
possibly damaging |
Het |
Dmbt1 |
T |
A |
7: 130,712,778 (GRCm39) |
I1583N |
probably damaging |
Het |
Dvl1 |
G |
A |
4: 155,939,609 (GRCm39) |
V320M |
probably damaging |
Het |
Elmod3 |
A |
G |
6: 72,546,299 (GRCm39) |
S254P |
probably damaging |
Het |
Emsy |
G |
A |
7: 98,286,473 (GRCm39) |
Q226* |
probably null |
Het |
Ephb6 |
C |
A |
6: 41,591,108 (GRCm39) |
D88E |
probably damaging |
Het |
Exoc1 |
A |
G |
5: 76,690,005 (GRCm39) |
M182V |
possibly damaging |
Het |
Fbxw4 |
T |
G |
19: 45,580,160 (GRCm39) |
|
probably benign |
Het |
Fgr |
A |
G |
4: 132,713,577 (GRCm39) |
D35G |
probably damaging |
Het |
Gm20547 |
A |
T |
17: 35,080,008 (GRCm39) |
D366E |
probably damaging |
Het |
Gucy1a1 |
T |
C |
3: 82,004,988 (GRCm39) |
N599S |
probably damaging |
Het |
Ighg2b |
G |
A |
12: 113,270,298 (GRCm39) |
P240L |
probably damaging |
Het |
Jak3 |
A |
G |
8: 72,138,727 (GRCm39) |
D975G |
probably benign |
Het |
Klhl26 |
A |
T |
8: 70,908,283 (GRCm39) |
N24K |
probably benign |
Het |
Letm1 |
T |
A |
5: 33,918,202 (GRCm39) |
E314D |
probably damaging |
Het |
Lin54 |
A |
T |
5: 100,598,852 (GRCm39) |
F319L |
probably damaging |
Het |
Lrp5 |
A |
T |
19: 3,670,314 (GRCm39) |
|
probably null |
Het |
Lvrn |
T |
C |
18: 47,013,776 (GRCm39) |
F486S |
probably damaging |
Het |
Or1e19 |
T |
C |
11: 73,316,009 (GRCm39) |
T267A |
probably benign |
Het |
Or2h1b |
A |
G |
17: 37,462,534 (GRCm39) |
C110R |
probably damaging |
Het |
Or4c113 |
T |
C |
2: 88,885,357 (GRCm39) |
R138G |
probably benign |
Het |
Or51m1 |
A |
C |
7: 103,578,329 (GRCm39) |
I100L |
probably benign |
Het |
Or8g54 |
A |
T |
9: 39,706,977 (GRCm39) |
Y102F |
probably benign |
Het |
Pramel24 |
A |
G |
4: 143,452,703 (GRCm39) |
T45A |
probably benign |
Het |
Sap30bp |
T |
A |
11: 115,848,214 (GRCm39) |
M112K |
possibly damaging |
Het |
Sbno1 |
A |
G |
5: 124,525,374 (GRCm39) |
|
probably benign |
Het |
Slc30a5 |
T |
C |
13: 100,950,338 (GRCm39) |
I307V |
probably benign |
Het |
Trim37 |
T |
A |
11: 87,080,963 (GRCm39) |
D21E |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,396,958 (GRCm39) |
F614S |
possibly damaging |
Het |
Usp39 |
A |
C |
6: 72,305,622 (GRCm39) |
F387C |
probably damaging |
Het |
Vipas39 |
C |
T |
12: 87,300,028 (GRCm39) |
C149Y |
probably damaging |
Het |
Vmn2r107 |
C |
A |
17: 20,595,974 (GRCm39) |
H842Q |
probably benign |
Het |
Vps18 |
T |
A |
2: 119,123,658 (GRCm39) |
V195E |
probably benign |
Het |
Vsx1 |
A |
G |
2: 150,527,510 (GRCm39) |
|
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 |
|
IGL02483:Cyp2c39
|
APN |
19 |
39,525,231 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02490:Cyp2c39
|
APN |
19 |
39,527,446 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02597:Cyp2c39
|
APN |
19 |
39,549,331 (GRCm39) |
nonsense |
probably null |
|
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 |
2016-08-02 |