Incidental Mutation 'IGL02053:Cyp2j8'
| ID |
185127 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2j8
|
| Ensembl Gene |
ENSMUSG00000082932 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 8 |
| Synonyms |
OTTMUSG00000007938, Cyp2j8-ps |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL02053
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
96332833-96395623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96358891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 343
(I343V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124729]
|
| AlphaFold |
G3UZ38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124729
AA Change: I343V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134591
Gene: ENSMUSG00000082932
AA Change: I343V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
500 |
1.2e-134 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
T |
C |
17: 43,761,058 (GRCm39) |
S918P |
possibly damaging |
Het |
| AY358078 |
G |
T |
14: 52,043,009 (GRCm39) |
E232D |
unknown |
Het |
| Baz1b |
C |
A |
5: 135,271,320 (GRCm39) |
P1301Q |
probably benign |
Het |
| Btn2a2 |
T |
C |
13: 23,662,990 (GRCm39) |
D311G |
probably damaging |
Het |
| Cept1 |
A |
T |
3: 106,440,712 (GRCm39) |
L149Q |
probably damaging |
Het |
| Clec2m |
T |
C |
6: 129,303,725 (GRCm39) |
Q80R |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,940,294 (GRCm39) |
D1212V |
possibly damaging |
Het |
| Dapk2 |
A |
G |
9: 66,128,027 (GRCm39) |
I102V |
probably benign |
Het |
| Dntt |
A |
G |
19: 41,034,713 (GRCm39) |
T321A |
probably benign |
Het |
| Entrep2 |
C |
T |
7: 64,469,590 (GRCm39) |
G53R |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,090,769 (GRCm39) |
|
probably benign |
Het |
| Fbxw5 |
T |
C |
2: 25,393,453 (GRCm39) |
V18A |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 92,030,225 (GRCm39) |
C1109S |
probably benign |
Het |
| Ms4a6c |
A |
G |
19: 11,455,586 (GRCm39) |
I132V |
probably benign |
Het |
| Ncoa3 |
T |
C |
2: 165,896,754 (GRCm39) |
L515P |
probably damaging |
Het |
| Nfic |
A |
G |
10: 81,256,385 (GRCm39) |
V115A |
probably damaging |
Het |
| P4ha2 |
A |
G |
11: 54,008,413 (GRCm39) |
T207A |
probably benign |
Het |
| Pde10a |
G |
T |
17: 9,193,601 (GRCm39) |
V732L |
probably damaging |
Het |
| Pfas |
A |
T |
11: 68,883,779 (GRCm39) |
L626Q |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,200,230 (GRCm39) |
N270D |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,272,144 (GRCm39) |
S977P |
probably benign |
Het |
| Ptprm |
A |
G |
17: 67,000,836 (GRCm39) |
L1073P |
probably damaging |
Het |
| Rai14 |
A |
C |
15: 10,633,242 (GRCm39) |
H49Q |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,038,816 (GRCm39) |
I394F |
probably damaging |
Het |
| Sec14l1 |
C |
T |
11: 117,047,738 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,550,413 (GRCm39) |
I151V |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,194,284 (GRCm39) |
N50I |
possibly damaging |
Het |
| Tubal3 |
A |
C |
13: 3,983,159 (GRCm39) |
D313A |
probably damaging |
Het |
| Usp45 |
A |
G |
4: 21,824,553 (GRCm39) |
N483S |
probably benign |
Het |
|
| Other mutations in Cyp2j8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Cyp2j8
|
APN |
4 |
96,392,079 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00418:Cyp2j8
|
APN |
4 |
96,332,853 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01577:Cyp2j8
|
APN |
4 |
96,367,308 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01629:Cyp2j8
|
APN |
4 |
96,387,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01928:Cyp2j8
|
APN |
4 |
96,358,713 (GRCm39) |
splice site |
probably benign |
|
|
IGL01978:Cyp2j8
|
APN |
4 |
96,392,246 (GRCm39) |
splice site |
probably null |
|
|
IGL02500:Cyp2j8
|
APN |
4 |
96,358,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Cyp2j8
|
APN |
4 |
96,358,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
cyprus
|
UTSW |
4 |
96,387,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Cyp2j8
|
UTSW |
4 |
96,332,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0718:Cyp2j8
|
UTSW |
4 |
96,389,433 (GRCm39) |
missense |
probably benign |
|
|
R1553:Cyp2j8
|
UTSW |
4 |
96,363,794 (GRCm39) |
missense |
probably benign |
|
|
R1557:Cyp2j8
|
UTSW |
4 |
96,358,713 (GRCm39) |
splice site |
probably benign |
|
|
R1632:Cyp2j8
|
UTSW |
4 |
96,335,561 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1708:Cyp2j8
|
UTSW |
4 |
96,387,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2119:Cyp2j8
|
UTSW |
4 |
96,395,438 (GRCm39) |
missense |
probably benign |
|
|
R2220:Cyp2j8
|
UTSW |
4 |
96,332,862 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3123:Cyp2j8
|
UTSW |
4 |
96,389,450 (GRCm39) |
splice site |
probably benign |
|
|
R3735:Cyp2j8
|
UTSW |
4 |
96,332,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3736:Cyp2j8
|
UTSW |
4 |
96,332,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4326:Cyp2j8
|
UTSW |
4 |
96,395,566 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4327:Cyp2j8
|
UTSW |
4 |
96,395,566 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4762:Cyp2j8
|
UTSW |
4 |
96,358,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4901:Cyp2j8
|
UTSW |
4 |
96,367,323 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4960:Cyp2j8
|
UTSW |
4 |
96,395,614 (GRCm39) |
missense |
probably benign |
|
|
R5260:Cyp2j8
|
UTSW |
4 |
96,389,301 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5562:Cyp2j8
|
UTSW |
4 |
96,358,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5596:Cyp2j8
|
UTSW |
4 |
96,395,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5741:Cyp2j8
|
UTSW |
4 |
96,332,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5825:Cyp2j8
|
UTSW |
4 |
96,395,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5903:Cyp2j8
|
UTSW |
4 |
96,395,514 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6122:Cyp2j8
|
UTSW |
4 |
96,332,877 (GRCm39) |
missense |
probably benign |
|
|
R6232:Cyp2j8
|
UTSW |
4 |
96,395,427 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6748:Cyp2j8
|
UTSW |
4 |
96,363,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6931:Cyp2j8
|
UTSW |
4 |
96,333,018 (GRCm39) |
splice site |
probably null |
|
|
R7000:Cyp2j8
|
UTSW |
4 |
96,335,588 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7183:Cyp2j8
|
UTSW |
4 |
96,367,418 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7186:Cyp2j8
|
UTSW |
4 |
96,363,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7348:Cyp2j8
|
UTSW |
4 |
96,332,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7575:Cyp2j8
|
UTSW |
4 |
96,358,785 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7648:Cyp2j8
|
UTSW |
4 |
96,387,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7975:Cyp2j8
|
UTSW |
4 |
96,358,776 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7993:Cyp2j8
|
UTSW |
4 |
96,335,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8878:Cyp2j8
|
UTSW |
4 |
96,358,807 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Posted On |
2014-05-07 |
Incidental Mutation