Incidental Mutation 'R3736:Cyp2j8'
| ID |
270108 |
| 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 |
040723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R3736 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
96332833-96395623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96332836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 503
(R503S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124729]
|
| AlphaFold |
G3UZ38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124729
AA Change: R503S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134591
Gene: ENSMUSG00000082932
AA Change: R503S
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
A |
7: 29,273,996 (GRCm39) |
|
noncoding transcript |
Het |
| Acot12 |
T |
A |
13: 91,932,465 (GRCm39) |
I487N |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,768,497 (GRCm39) |
K686R |
probably benign |
Het |
| Adgrf2 |
T |
C |
17: 43,021,903 (GRCm39) |
E307G |
probably benign |
Het |
| Ang2 |
G |
A |
14: 51,433,113 (GRCm39) |
R90* |
probably null |
Het |
| Ankrd11 |
A |
T |
8: 123,618,524 (GRCm39) |
V1776D |
probably damaging |
Het |
| Atp12a |
G |
A |
14: 56,611,884 (GRCm39) |
V353I |
possibly damaging |
Het |
| Bbs7 |
A |
G |
3: 36,661,819 (GRCm39) |
Y127H |
possibly damaging |
Het |
| C8a |
T |
C |
4: 104,674,812 (GRCm39) |
E509G |
probably benign |
Het |
| Ccdc158 |
A |
C |
5: 92,780,283 (GRCm39) |
L930R |
possibly damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,465,564 (GRCm39) |
|
probably null |
Het |
| Cep170b |
A |
T |
12: 112,707,438 (GRCm39) |
I395F |
probably damaging |
Het |
| Cimip2c |
A |
T |
5: 30,639,442 (GRCm39) |
Y123F |
probably benign |
Het |
| Clcn3 |
T |
A |
8: 61,436,686 (GRCm39) |
|
probably benign |
Het |
| Ctps1 |
T |
C |
4: 120,400,943 (GRCm39) |
T459A |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,598,109 (GRCm39) |
V1767I |
probably benign |
Het |
| Evi5 |
A |
T |
5: 107,966,849 (GRCm39) |
V224D |
probably damaging |
Het |
| F8 |
G |
A |
X: 74,254,981 (GRCm39) |
P2138S |
probably damaging |
Het |
| Helq |
T |
G |
5: 100,938,054 (GRCm39) |
D464A |
possibly damaging |
Het |
| Irag1 |
A |
G |
7: 110,523,170 (GRCm39) |
V297A |
probably benign |
Het |
| Irag2 |
G |
A |
6: 145,106,596 (GRCm39) |
|
probably benign |
Het |
| Kcnk10 |
A |
G |
12: 98,456,171 (GRCm39) |
V203A |
probably benign |
Het |
| Lef1 |
C |
T |
3: 130,984,715 (GRCm39) |
P160S |
possibly damaging |
Het |
| Lyn |
G |
T |
4: 3,745,330 (GRCm39) |
W78C |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,998,916 (GRCm39) |
H614Q |
probably damaging |
Het |
| Mogs |
C |
A |
6: 83,093,757 (GRCm39) |
T242K |
possibly damaging |
Het |
| Morc3 |
T |
A |
16: 93,671,700 (GRCm39) |
V910E |
probably damaging |
Het |
| Ncapg |
A |
T |
5: 45,853,469 (GRCm39) |
Q906L |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,027,320 (GRCm39) |
Y234C |
probably damaging |
Het |
| Olr1 |
T |
A |
6: 129,476,838 (GRCm39) |
|
probably benign |
Het |
| Or5p76 |
A |
G |
7: 108,122,626 (GRCm39) |
V177A |
possibly damaging |
Het |
| Osmr |
A |
T |
15: 6,851,561 (GRCm39) |
Y656N |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,631,427 (GRCm39) |
F1161I |
probably damaging |
Het |
| Poc5 |
A |
G |
13: 96,533,324 (GRCm39) |
S151G |
probably damaging |
Het |
| Rmnd5a |
T |
C |
6: 71,373,846 (GRCm39) |
D316G |
possibly damaging |
Het |
| Shroom3 |
T |
C |
5: 93,112,303 (GRCm39) |
V1888A |
possibly damaging |
Het |
| Shtn1 |
A |
T |
19: 59,010,700 (GRCm39) |
S256T |
probably benign |
Het |
| Sptlc2 |
G |
A |
12: 87,388,339 (GRCm39) |
A381V |
probably benign |
Het |
| Suclg2 |
T |
A |
6: 95,474,677 (GRCm39) |
I363F |
probably damaging |
Het |
| Tas2r134 |
C |
A |
2: 51,517,786 (GRCm39) |
N88K |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 56,005,189 (GRCm39) |
Y815H |
probably damaging |
Het |
| Tnrc6b |
G |
C |
15: 80,773,364 (GRCm39) |
|
probably benign |
Het |
| Vti1a |
T |
A |
19: 55,369,364 (GRCm39) |
|
probably null |
Het |
| Zfp273 |
T |
A |
13: 67,973,626 (GRCm39) |
C251* |
probably null |
Het |
| Zfp683 |
C |
A |
4: 133,784,742 (GRCm39) |
Q330K |
probably benign |
Het |
| Zfpm1 |
G |
A |
8: 123,050,475 (GRCm39) |
C117Y |
possibly damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,803 (GRCm39) |
N189S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGATGAAAAGATATGCCACTGAGC -3'
(R):5'- CCTCAGGAAAGAGAGGTTGC -3'
Sequencing Primer
(F):5'- CACTGAGCTCAGAAAAGATTTGCTC -3'
(R):5'- GTTGCCCTGGAGAACAACTAGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation