Incidental Mutation 'R7648:Cyp2j8'
ID |
590628 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2j8
|
Ensembl Gene |
ENSMUSG00000082932 |
Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 8 |
Synonyms |
OTTMUSG00000007938, Cyp2j8-ps |
MMRRC Submission |
045726-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R7648 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
96332833-96395623 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 96387840 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 207
(D207V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124729]
|
AlphaFold |
G3UZ38 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124729
AA Change: D207V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134591 Gene: ENSMUSG00000082932 AA Change: D207V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:p450
|
44 |
500 |
1.2e-134 |
PFAM |
|
Meta Mutation Damage Score |
0.8666 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
C |
7: 41,261,886 (GRCm39) |
V46A |
possibly damaging |
Het |
Asb13 |
C |
A |
13: 3,699,332 (GRCm39) |
N177K |
probably damaging |
Het |
Asprv1 |
A |
G |
6: 86,605,852 (GRCm39) |
T233A |
probably damaging |
Het |
Atad2b |
T |
A |
12: 5,077,182 (GRCm39) |
|
probably null |
Het |
Atxn2 |
G |
T |
5: 121,934,440 (GRCm39) |
V880F |
probably damaging |
Het |
Car14 |
T |
C |
3: 95,805,507 (GRCm39) |
N322S |
probably benign |
Het |
Cdc42bpb |
T |
C |
12: 111,343,587 (GRCm39) |
E40G |
probably damaging |
Het |
Ceacam16 |
G |
T |
7: 19,586,203 (GRCm39) |
A103E |
unknown |
Het |
Cnnm2 |
A |
G |
19: 46,866,339 (GRCm39) |
D829G |
probably damaging |
Het |
Cpt1b |
C |
T |
15: 89,305,570 (GRCm39) |
A382T |
probably damaging |
Het |
Crygc |
A |
G |
1: 65,112,484 (GRCm39) |
F30S |
probably damaging |
Het |
Cstf2t |
A |
G |
19: 31,060,992 (GRCm39) |
Q176R |
possibly damaging |
Het |
Ctif |
A |
T |
18: 75,770,213 (GRCm39) |
H57Q |
probably benign |
Het |
Cyp2c40 |
A |
G |
19: 39,792,289 (GRCm39) |
*195Q |
probably null |
Het |
Ddx49 |
A |
G |
8: 70,750,605 (GRCm39) |
V123A |
possibly damaging |
Het |
E4f1 |
A |
T |
17: 24,664,422 (GRCm39) |
I456K |
probably benign |
Het |
Eif4b |
T |
C |
15: 101,997,435 (GRCm39) |
S317P |
unknown |
Het |
Enam |
A |
T |
5: 88,652,016 (GRCm39) |
Q1175L |
possibly damaging |
Het |
Eppk1 |
T |
C |
15: 75,994,871 (GRCm39) |
Y670C |
probably benign |
Het |
Fam163b |
G |
T |
2: 27,002,752 (GRCm39) |
Q82K |
probably benign |
Het |
Fam193a |
A |
T |
5: 34,588,526 (GRCm39) |
K358N |
probably damaging |
Het |
Gls |
C |
A |
1: 52,235,939 (GRCm39) |
R392L |
probably damaging |
Het |
Gramd1c |
A |
G |
16: 43,810,232 (GRCm39) |
V247A |
probably damaging |
Het |
Gucy1a1 |
C |
T |
3: 82,016,014 (GRCm39) |
E325K |
possibly damaging |
Het |
Hectd4 |
T |
C |
5: 121,392,434 (GRCm39) |
C233R |
possibly damaging |
Het |
Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
Kif28 |
A |
G |
1: 179,536,989 (GRCm39) |
V498A |
possibly damaging |
Het |
Klhdc7a |
T |
C |
4: 139,693,250 (GRCm39) |
S566G |
possibly damaging |
Het |
Mlph |
G |
A |
1: 90,861,248 (GRCm39) |
|
probably null |
Het |
Mndal |
T |
A |
1: 173,684,961 (GRCm39) |
Y536F |
probably benign |
Het |
Mrgpra2a |
A |
T |
7: 47,076,411 (GRCm39) |
C282* |
probably null |
Het |
Msantd5 |
G |
A |
11: 51,125,613 (GRCm39) |
E179K |
possibly damaging |
Het |
Msh3 |
A |
T |
13: 92,410,536 (GRCm39) |
I684N |
probably damaging |
Het |
Mylk |
G |
C |
16: 34,699,894 (GRCm39) |
S419T |
probably benign |
Het |
Nfxl1 |
T |
C |
5: 72,680,879 (GRCm39) |
K747R |
probably benign |
Het |
Nup98 |
T |
G |
7: 101,773,404 (GRCm39) |
H1641P |
possibly damaging |
Het |
Or8b35 |
A |
C |
9: 37,903,856 (GRCm39) |
T18P |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,728,736 (GRCm39) |
N570D |
probably damaging |
Het |
Plekhh1 |
T |
A |
12: 79,101,905 (GRCm39) |
V325E |
probably benign |
Het |
Rabl3 |
A |
T |
16: 37,384,120 (GRCm39) |
I176F |
probably damaging |
Het |
Relb |
T |
C |
7: 19,353,767 (GRCm39) |
E37G |
possibly damaging |
Het |
Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
Tars2 |
G |
A |
3: 95,658,294 (GRCm39) |
T177I |
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,997,563 (GRCm39) |
N842I |
probably damaging |
Het |
Tmem175 |
A |
G |
5: 108,792,432 (GRCm39) |
E236G |
possibly damaging |
Het |
Trank1 |
A |
G |
9: 111,220,753 (GRCm39) |
T2497A |
probably benign |
Het |
Trf |
A |
G |
9: 103,105,168 (GRCm39) |
V48A |
probably benign |
Het |
Ttc28 |
A |
G |
5: 111,331,258 (GRCm39) |
K493E |
possibly damaging |
Het |
Unc50 |
T |
C |
1: 37,470,402 (GRCm39) |
S9P |
probably benign |
Het |
Uso1 |
T |
A |
5: 92,341,861 (GRCm39) |
|
probably null |
Het |
Usp49 |
A |
T |
17: 47,985,753 (GRCm39) |
N487I |
possibly damaging |
Het |
Xab2 |
T |
C |
8: 3,660,638 (GRCm39) |
D768G |
probably benign |
Het |
Xcr1 |
T |
C |
9: 123,685,657 (GRCm39) |
E35G |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGAGGTTGGGACTGAAATCAGA -3'
(R):5'- TGGGGTGGACTCTACAAGTTCC -3'
Sequencing Primer
(F):5'- TTGGGACTGAAATCAGAATGAAAAC -3'
(R):5'- ACTATAGGTCATTTCATCTAGGGTCC -3'
|
Posted On |
2019-10-24 |