Incidental Mutation 'R5562:Cyp2j8'
ID |
436655 |
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 |
043119-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R5562 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
96332833-96395623 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96358890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 343
(I343T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124729]
|
AlphaFold |
G3UZ38 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124729
AA Change: I343T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134591 Gene: ENSMUSG00000082932 AA Change: I343T
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:p450
|
44 |
500 |
1.2e-134 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a7 |
G |
A |
19: 20,679,628 (GRCm39) |
Q383* |
probably null |
Het |
Alkbh3 |
A |
T |
2: 93,826,724 (GRCm39) |
|
probably null |
Het |
Amotl1 |
G |
A |
9: 14,486,593 (GRCm39) |
P434S |
possibly damaging |
Het |
Arfgef1 |
T |
C |
1: 10,214,971 (GRCm39) |
E1641G |
probably damaging |
Het |
Arih2 |
T |
C |
9: 108,484,546 (GRCm39) |
T422A |
probably damaging |
Het |
C7 |
A |
T |
15: 5,061,397 (GRCm39) |
Y317* |
probably null |
Het |
Car4 |
A |
T |
11: 84,854,924 (GRCm39) |
M91L |
probably benign |
Het |
Ccdc7a |
T |
C |
8: 129,785,266 (GRCm39) |
D98G |
possibly damaging |
Het |
Cdc25b |
A |
G |
2: 131,036,678 (GRCm39) |
M493V |
probably damaging |
Het |
Cdhr3 |
C |
G |
12: 33,101,054 (GRCm39) |
R452T |
probably benign |
Het |
Col6a2 |
G |
A |
10: 76,435,509 (GRCm39) |
Q909* |
probably null |
Het |
Dcstamp |
G |
A |
15: 39,617,798 (GRCm39) |
C69Y |
possibly damaging |
Het |
Dnaaf8 |
C |
A |
16: 4,791,940 (GRCm39) |
|
noncoding transcript |
Het |
Efhc1 |
C |
T |
1: 21,043,104 (GRCm39) |
T341I |
probably damaging |
Het |
Elovl2 |
A |
G |
13: 41,338,772 (GRCm39) |
*276Q |
probably null |
Het |
Fnip1 |
T |
A |
11: 54,380,168 (GRCm39) |
|
probably null |
Het |
Foxc1 |
A |
G |
13: 31,991,573 (GRCm39) |
H128R |
probably damaging |
Het |
Gpr107 |
C |
T |
2: 31,042,375 (GRCm39) |
A2V |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Kif15 |
A |
T |
9: 122,807,081 (GRCm39) |
Q44H |
probably damaging |
Het |
Masp1 |
T |
C |
16: 23,283,917 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,400,975 (GRCm39) |
I530T |
unknown |
Het |
Ncoa4-ps |
T |
A |
12: 119,225,957 (GRCm39) |
|
noncoding transcript |
Het |
Nherf2 |
A |
G |
17: 24,860,798 (GRCm39) |
V137A |
probably benign |
Het |
Nudt7 |
C |
A |
8: 114,874,723 (GRCm39) |
A93D |
probably damaging |
Het |
Or5w1b |
T |
C |
2: 87,476,063 (GRCm39) |
I135V |
probably benign |
Het |
Pcdha8 |
A |
G |
18: 37,126,024 (GRCm39) |
T169A |
possibly damaging |
Het |
Prnp |
A |
G |
2: 131,778,951 (GRCm39) |
D201G |
probably damaging |
Het |
Serinc1 |
G |
A |
10: 57,400,147 (GRCm39) |
Q167* |
probably null |
Het |
Slc13a5 |
A |
G |
11: 72,152,865 (GRCm39) |
V35A |
probably damaging |
Het |
Slc30a6 |
C |
T |
17: 74,719,700 (GRCm39) |
T220I |
possibly damaging |
Het |
Slc7a7 |
T |
A |
14: 54,646,269 (GRCm39) |
M65L |
probably benign |
Het |
Speg |
T |
A |
1: 75,403,700 (GRCm39) |
L2627Q |
probably damaging |
Het |
Tank |
A |
G |
2: 61,480,552 (GRCm39) |
T363A |
possibly damaging |
Het |
Taok3 |
T |
A |
5: 117,389,029 (GRCm39) |
L478Q |
probably damaging |
Het |
Trim55 |
A |
T |
3: 19,713,317 (GRCm39) |
M123L |
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,795,773 (GRCm39) |
V118A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,600,803 (GRCm39) |
Y17114N |
probably damaging |
Het |
Unc5c |
A |
G |
3: 141,474,291 (GRCm39) |
T214A |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,308,414 (GRCm39) |
V2021E |
probably damaging |
Het |
Utp4 |
G |
A |
8: 107,649,557 (GRCm39) |
D669N |
probably benign |
Het |
Zfp560 |
G |
T |
9: 20,261,883 (GRCm39) |
Y89* |
probably null |
Het |
Zfp64 |
A |
G |
2: 168,767,642 (GRCm39) |
S657P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCATGGTTACCTTAGGCAG -3'
(R):5'- TGTTAGGATACAGAATAGCTTGACC -3'
Sequencing Primer
(F):5'- CTTAGGCAGGTGGAATCCG -3'
(R):5'- ACAGAATAGCTTGACCATATAGAGTC -3'
|
Posted On |
2016-10-24 |