Incidental Mutation 'IGL02500:Cyp2j8'
| ID |
295984 |
| 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: 0.055)
|
| Stock # |
IGL02500
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
96332833-96395623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96358887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 344
(D344G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124729]
|
| AlphaFold |
G3UZ38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124729
AA Change: D344G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134591
Gene: ENSMUSG00000082932
AA Change: D344G
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,856,338 (GRCm39) |
I409N |
possibly damaging |
Het |
| Aoc3 |
T |
A |
11: 101,228,215 (GRCm39) |
L674* |
probably null |
Het |
| Arhgef10 |
G |
A |
8: 15,011,238 (GRCm39) |
E265K |
probably damaging |
Het |
| Ccn1 |
T |
C |
3: 145,354,455 (GRCm39) |
K152R |
probably damaging |
Het |
| Cd53 |
A |
G |
3: 106,676,142 (GRCm39) |
I75T |
probably damaging |
Het |
| Col26a1 |
A |
T |
5: 136,783,193 (GRCm39) |
L235* |
probably null |
Het |
| Crem |
G |
T |
18: 3,273,477 (GRCm39) |
Q60K |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,405,013 (GRCm39) |
T2510A |
probably benign |
Het |
| Dnajc4 |
T |
C |
19: 6,965,456 (GRCm39) |
Q215R |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,224,235 (GRCm39) |
H1262R |
probably benign |
Het |
| Exoc2 |
G |
T |
13: 31,095,179 (GRCm39) |
T239K |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 38,894,781 (GRCm39) |
S316C |
probably damaging |
Het |
| Htra1 |
A |
G |
7: 130,586,704 (GRCm39) |
K429R |
probably benign |
Het |
| Il1rapl2 |
C |
T |
X: 137,747,252 (GRCm39) |
T647I |
possibly damaging |
Het |
| Kcnn3 |
T |
A |
3: 89,568,419 (GRCm39) |
|
probably benign |
Het |
| Kiz |
G |
A |
2: 146,705,733 (GRCm39) |
V98I |
probably benign |
Het |
| Klk1b24 |
A |
T |
7: 43,837,748 (GRCm39) |
|
probably benign |
Het |
| Lrrc30 |
T |
A |
17: 67,938,857 (GRCm39) |
N241I |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,587,136 (GRCm39) |
V288A |
probably damaging |
Het |
| Mefv |
T |
C |
16: 3,531,441 (GRCm39) |
H459R |
probably damaging |
Het |
| Mettl21a |
G |
T |
1: 64,647,213 (GRCm39) |
Q115K |
probably benign |
Het |
| Msra |
A |
G |
14: 64,522,637 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,196,536 (GRCm39) |
R1752H |
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,152,280 (GRCm39) |
F163S |
possibly damaging |
Het |
| Ntng1 |
T |
A |
3: 110,042,646 (GRCm39) |
Y60F |
probably damaging |
Het |
| Pax6 |
G |
T |
2: 105,523,115 (GRCm39) |
R317L |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,909 (GRCm39) |
E1129G |
probably benign |
Het |
| Phlpp2 |
C |
T |
8: 110,640,250 (GRCm39) |
H472Y |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prkce |
A |
G |
17: 86,476,342 (GRCm39) |
N108D |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,532,146 (GRCm39) |
|
probably null |
Het |
| Ptprm |
T |
C |
17: 67,227,043 (GRCm39) |
Y702C |
probably damaging |
Het |
| Rbbp8nl |
T |
C |
2: 179,921,122 (GRCm39) |
T421A |
possibly damaging |
Het |
| Retnlg |
A |
T |
16: 48,693,323 (GRCm39) |
L33F |
probably benign |
Het |
| Slc16a7 |
T |
A |
10: 125,066,802 (GRCm39) |
Y279F |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,696,142 (GRCm39) |
Y964C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Sspo |
C |
A |
6: 48,455,313 (GRCm39) |
C3047* |
probably null |
Het |
| Tmprss11b |
C |
T |
5: 86,815,182 (GRCm39) |
|
probably null |
Het |
| Txnrd1 |
T |
G |
10: 82,715,051 (GRCm39) |
W98G |
probably damaging |
Het |
| Ulk1 |
A |
T |
5: 110,957,000 (GRCm39) |
I66N |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,554,893 (GRCm39) |
Y3557C |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,077,650 (GRCm39) |
H172L |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,691,474 (GRCm39) |
C1218S |
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 |
|
|
IGL02053:Cyp2j8
|
APN |
4 |
96,358,891 (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 |
2015-04-16 |
Incidental Mutation