Incidental Mutation 'IGL02947:Cyp2j8'
| ID |
364767 |
| 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 # |
IGL02947
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
96332833-96395623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96358815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 368
(I368N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124729]
|
| AlphaFold |
G3UZ38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124729
AA Change: I368N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134591
Gene: ENSMUSG00000082932
AA Change: I368N
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,049,957 (GRCm39) |
V13A |
probably benign |
Het |
| Atp8b5 |
T |
A |
4: 43,305,774 (GRCm39) |
I106K |
possibly damaging |
Het |
| Cdh15 |
T |
C |
8: 123,592,111 (GRCm39) |
S633P |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,723,134 (GRCm39) |
T228A |
probably benign |
Het |
| Cfap90 |
T |
A |
13: 68,759,312 (GRCm39) |
F95L |
probably benign |
Het |
| Chrng |
A |
G |
1: 87,137,606 (GRCm39) |
|
probably null |
Het |
| Coprs |
T |
C |
8: 13,935,782 (GRCm39) |
E79G |
probably damaging |
Het |
| Cpb2 |
A |
C |
14: 75,520,758 (GRCm39) |
Y391S |
probably damaging |
Het |
| Ddah1 |
T |
C |
3: 145,464,842 (GRCm39) |
F76L |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,261,514 (GRCm39) |
T573A |
probably benign |
Het |
| Exoc6b |
T |
A |
6: 84,835,411 (GRCm39) |
M375L |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,706,502 (GRCm39) |
E994G |
probably damaging |
Het |
| Fem1a |
T |
A |
17: 56,565,640 (GRCm39) |
C578S |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,936,606 (GRCm39) |
S188P |
probably damaging |
Het |
| Gpn3 |
T |
C |
5: 122,516,551 (GRCm39) |
V60A |
possibly damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,043,690 (GRCm39) |
D59G |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,145,094 (GRCm39) |
E815V |
probably damaging |
Het |
| Itga9 |
C |
T |
9: 118,487,601 (GRCm39) |
T228M |
probably damaging |
Het |
| Kpna7 |
T |
C |
5: 144,930,884 (GRCm39) |
I320M |
probably damaging |
Het |
| Lnpep |
T |
C |
17: 17,791,234 (GRCm39) |
T437A |
probably damaging |
Het |
| Ltf |
C |
T |
9: 110,868,015 (GRCm39) |
T48I |
probably benign |
Het |
| Masp1 |
T |
G |
16: 23,313,476 (GRCm39) |
D153A |
probably damaging |
Het |
| Mcpt9 |
T |
A |
14: 56,264,373 (GRCm39) |
R241* |
probably null |
Het |
| Msantd4 |
T |
A |
9: 4,384,787 (GRCm39) |
S171T |
probably damaging |
Het |
| Nos1 |
G |
A |
5: 118,081,382 (GRCm39) |
V1229M |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,179,246 (GRCm39) |
S55P |
probably benign |
Het |
| Oc90 |
T |
C |
15: 65,759,983 (GRCm39) |
K212R |
probably benign |
Het |
| Or2a12 |
A |
G |
6: 42,904,830 (GRCm39) |
I222V |
probably benign |
Het |
| Or5t15 |
C |
T |
2: 86,681,130 (GRCm39) |
R304K |
probably benign |
Het |
| Or6c202 |
C |
A |
10: 128,996,439 (GRCm39) |
C138F |
probably damaging |
Het |
| Prr12 |
T |
A |
7: 44,697,980 (GRCm39) |
Q645L |
unknown |
Het |
| Psmd9 |
A |
G |
5: 123,384,278 (GRCm39) |
I145V |
probably benign |
Het |
| Rbks |
T |
C |
5: 31,817,407 (GRCm39) |
I121V |
probably benign |
Het |
| Rnase2b |
A |
T |
14: 51,400,264 (GRCm39) |
Y115F |
probably damaging |
Het |
| Sarnp |
A |
G |
10: 128,675,723 (GRCm39) |
E78G |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,498,946 (GRCm39) |
S1007G |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,182,759 (GRCm39) |
Y100* |
probably null |
Het |
| Srrm2 |
T |
C |
17: 24,029,720 (GRCm39) |
S222P |
probably benign |
Het |
| Sult3a1 |
G |
A |
10: 33,740,046 (GRCm39) |
R35Q |
possibly damaging |
Het |
| Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
| Tmem53 |
C |
T |
4: 117,125,285 (GRCm39) |
Q111* |
probably null |
Het |
| Togaram1 |
T |
A |
12: 65,068,274 (GRCm39) |
V1709D |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,878,483 (GRCm39) |
D628V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,544,838 (GRCm39) |
K31009* |
probably null |
Het |
| Vldlr |
A |
G |
19: 27,217,120 (GRCm39) |
I58V |
probably benign |
Het |
| Vmn1r4 |
T |
C |
6: 56,934,231 (GRCm39) |
F245S |
probably benign |
Het |
| Vrtn |
T |
A |
12: 84,695,258 (GRCm39) |
S3T |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,242,476 (GRCm39) |
|
probably null |
Het |
| Wrnip1 |
T |
A |
13: 33,006,053 (GRCm39) |
Y632N |
probably damaging |
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 |
|
IGL02500:Cyp2j8
|
APN |
4 |
96,358,887 (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 |
2015-12-18 |
Incidental Mutation