Incidental Mutation 'R0392:Cyp2j7'
ID |
31753 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2j7
|
Ensembl Gene |
ENSMUSG00000081362 |
Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 7 |
Synonyms |
OTTMUSG00000007941, Cyp2j7-ps |
MMRRC Submission |
038598-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R0392 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
96083434-96124896 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96087671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 413
(D413G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162514]
|
AlphaFold |
A0A140T8U1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162514
AA Change: D413G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134331 Gene: ENSMUSG00000081362 AA Change: D413G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
44 |
499 |
3.7e-130 |
PFAM |
|
Meta Mutation Damage Score |
0.8968 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
Validation Efficiency |
100% (31/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
Bcan |
T |
A |
3: 87,900,869 (GRCm39) |
K455* |
probably null |
Het |
Casp12 |
T |
A |
9: 5,348,973 (GRCm39) |
|
probably benign |
Het |
Ccdc61 |
T |
C |
7: 18,625,027 (GRCm39) |
M504V |
probably benign |
Het |
Cd53 |
A |
T |
3: 106,670,592 (GRCm39) |
V147E |
probably damaging |
Het |
Cyp2b13 |
T |
C |
7: 25,785,308 (GRCm39) |
Y226H |
probably benign |
Het |
Dcbld1 |
T |
C |
10: 52,193,230 (GRCm39) |
I254T |
possibly damaging |
Het |
Ddx39a |
T |
G |
8: 84,448,366 (GRCm39) |
M206R |
probably damaging |
Het |
Dgki |
T |
A |
6: 36,977,113 (GRCm39) |
T666S |
probably damaging |
Het |
Dnaaf8 |
T |
C |
16: 4,795,363 (GRCm39) |
|
noncoding transcript |
Het |
Dnah7a |
C |
A |
1: 53,543,357 (GRCm39) |
C2271F |
probably damaging |
Het |
Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
Epha4 |
T |
C |
1: 77,483,610 (GRCm39) |
K133R |
probably benign |
Het |
Gm11146 |
T |
A |
16: 77,394,054 (GRCm39) |
|
probably benign |
Het |
Ift88 |
A |
T |
14: 57,733,617 (GRCm39) |
|
probably benign |
Het |
Ighv10-3 |
A |
G |
12: 114,487,460 (GRCm39) |
|
probably benign |
Het |
Lamp5 |
T |
C |
2: 135,902,817 (GRCm39) |
S179P |
probably damaging |
Het |
Map4 |
T |
C |
9: 109,907,113 (GRCm39) |
S788P |
probably damaging |
Het |
Or5m13 |
T |
A |
2: 85,749,106 (GRCm39) |
I279N |
possibly damaging |
Het |
Otog |
T |
C |
7: 45,899,499 (GRCm39) |
W267R |
probably benign |
Het |
Pafah1b2 |
T |
C |
9: 45,880,151 (GRCm39) |
I175M |
probably benign |
Het |
Pcdhb12 |
A |
G |
18: 37,570,011 (GRCm39) |
K386E |
possibly damaging |
Het |
Pcnt |
T |
C |
10: 76,220,660 (GRCm39) |
N2056S |
probably benign |
Het |
Pold2 |
T |
C |
11: 5,826,776 (GRCm39) |
I53V |
possibly damaging |
Het |
Rsf1 |
T |
A |
7: 97,328,212 (GRCm39) |
D1071E |
probably benign |
Het |
Rtp3 |
A |
T |
9: 110,818,621 (GRCm39) |
M20K |
probably damaging |
Het |
S1pr5 |
T |
A |
9: 21,156,277 (GRCm39) |
I50F |
probably damaging |
Het |
Slc47a1 |
A |
G |
11: 61,262,608 (GRCm39) |
S94P |
probably damaging |
Het |
Slitrk5 |
G |
A |
14: 111,916,465 (GRCm39) |
V30I |
probably benign |
Het |
St8sia5 |
G |
A |
18: 77,342,102 (GRCm39) |
V271M |
probably damaging |
Het |
Sult2b1 |
G |
T |
7: 45,383,062 (GRCm39) |
T240N |
probably damaging |
Het |
|
Other mutations in Cyp2j7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00426:Cyp2j7
|
APN |
4 |
96,115,750 (GRCm39) |
splice site |
probably null |
|
IGL00426:Cyp2j7
|
APN |
4 |
96,115,749 (GRCm39) |
splice site |
probably benign |
|
IGL01505:Cyp2j7
|
APN |
4 |
96,115,917 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02100:Cyp2j7
|
APN |
4 |
96,124,793 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02183:Cyp2j7
|
APN |
4 |
96,118,384 (GRCm39) |
splice site |
probably benign |
|
IGL02596:Cyp2j7
|
APN |
4 |
96,103,659 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02661:Cyp2j7
|
APN |
4 |
96,124,887 (GRCm39) |
missense |
probably benign |
|
IGL02723:Cyp2j7
|
APN |
4 |
96,118,366 (GRCm39) |
missense |
probably benign |
0.33 |
IGL03053:Cyp2j7
|
APN |
4 |
96,118,274 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03159:Cyp2j7
|
APN |
4 |
96,115,749 (GRCm39) |
splice site |
probably benign |
|
IGL03168:Cyp2j7
|
APN |
4 |
96,118,274 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03174:Cyp2j7
|
APN |
4 |
96,083,607 (GRCm39) |
nonsense |
probably null |
|
PIT4449001:Cyp2j7
|
UTSW |
4 |
96,103,575 (GRCm39) |
missense |
probably damaging |
0.96 |
R0016:Cyp2j7
|
UTSW |
4 |
96,090,384 (GRCm39) |
missense |
probably damaging |
0.99 |
R0016:Cyp2j7
|
UTSW |
4 |
96,090,384 (GRCm39) |
missense |
probably damaging |
0.99 |
R1447:Cyp2j7
|
UTSW |
4 |
96,083,530 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1778:Cyp2j7
|
UTSW |
4 |
96,087,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R1876:Cyp2j7
|
UTSW |
4 |
96,105,656 (GRCm39) |
missense |
probably benign |
0.01 |
R4105:Cyp2j7
|
UTSW |
4 |
96,087,687 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4106:Cyp2j7
|
UTSW |
4 |
96,087,687 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4107:Cyp2j7
|
UTSW |
4 |
96,087,687 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4108:Cyp2j7
|
UTSW |
4 |
96,087,687 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4438:Cyp2j7
|
UTSW |
4 |
96,105,646 (GRCm39) |
missense |
probably benign |
0.01 |
R4660:Cyp2j7
|
UTSW |
4 |
96,083,579 (GRCm39) |
missense |
probably benign |
0.29 |
R6193:Cyp2j7
|
UTSW |
4 |
96,083,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R6380:Cyp2j7
|
UTSW |
4 |
96,118,211 (GRCm39) |
critical splice donor site |
probably null |
|
R6427:Cyp2j7
|
UTSW |
4 |
96,115,904 (GRCm39) |
missense |
probably damaging |
0.96 |
R6624:Cyp2j7
|
UTSW |
4 |
96,115,855 (GRCm39) |
missense |
probably damaging |
0.99 |
R7196:Cyp2j7
|
UTSW |
4 |
96,103,651 (GRCm39) |
missense |
probably benign |
0.03 |
R7417:Cyp2j7
|
UTSW |
4 |
96,090,225 (GRCm39) |
critical splice donor site |
probably null |
|
R7780:Cyp2j7
|
UTSW |
4 |
96,118,256 (GRCm39) |
missense |
probably benign |
0.00 |
R8062:Cyp2j7
|
UTSW |
4 |
96,103,587 (GRCm39) |
missense |
probably null |
1.00 |
R8097:Cyp2j7
|
UTSW |
4 |
96,103,647 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8201:Cyp2j7
|
UTSW |
4 |
96,083,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R8279:Cyp2j7
|
UTSW |
4 |
96,116,796 (GRCm39) |
critical splice donor site |
probably null |
|
R9254:Cyp2j7
|
UTSW |
4 |
96,105,740 (GRCm39) |
nonsense |
probably null |
|
R9328:Cyp2j7
|
UTSW |
4 |
96,115,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R9377:Cyp2j7
|
UTSW |
4 |
96,124,786 (GRCm39) |
missense |
probably benign |
0.01 |
R9489:Cyp2j7
|
UTSW |
4 |
96,103,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R9499:Cyp2j7
|
UTSW |
4 |
96,115,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R9552:Cyp2j7
|
UTSW |
4 |
96,115,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGCACTGGTCATGAAACAGCAC -3'
(R):5'- GAAATGCGCTAAGCAAACACTGTCC -3'
Sequencing Primer
(F):5'- TGAAACAGCACTATGGACATGC -3'
(R):5'- CTGTCCATCAATGATCTGAACAAGG -3'
|
Posted On |
2013-04-24 |