Incidental Mutation 'IGL02100:Cyp2j7'
| ID |
279702 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2j7
|
| Ensembl Gene |
ENSMUSG00000081362 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 7 |
| Synonyms |
OTTMUSG00000007941, Cyp2j7-ps |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL02100
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
96083434-96124896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96124793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 35
(L35P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162514]
|
| AlphaFold |
A0A140T8U1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162514
AA Change: L35P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134331
Gene: ENSMUSG00000081362
AA Change: L35P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
499 |
3.7e-130 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
T |
3: 36,136,029 (GRCm39) |
Q347L |
probably null |
Het |
| Acvr2a |
T |
C |
2: 48,788,630 (GRCm39) |
|
probably benign |
Het |
| Ankrd28 |
T |
C |
14: 31,449,582 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,735,426 (GRCm39) |
Y498C |
probably damaging |
Het |
| Cdh3 |
G |
A |
8: 107,270,322 (GRCm39) |
V400I |
probably benign |
Het |
| Chrnb1 |
G |
T |
11: 69,684,281 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
A |
G |
6: 4,524,177 (GRCm39) |
|
probably benign |
Het |
| Dennd2c |
G |
A |
3: 103,060,991 (GRCm39) |
S561N |
probably damaging |
Het |
| Dennd4a |
A |
T |
9: 64,816,988 (GRCm39) |
|
probably benign |
Het |
| Dnai4 |
A |
G |
4: 102,907,346 (GRCm39) |
C647R |
probably damaging |
Het |
| Dynll1 |
A |
C |
5: 115,436,852 (GRCm39) |
V58G |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,755,442 (GRCm39) |
|
probably benign |
Het |
| Ercc6 |
T |
C |
14: 32,239,052 (GRCm39) |
S47P |
probably benign |
Het |
| Fam76b |
A |
G |
9: 13,755,416 (GRCm39) |
|
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,269,941 (GRCm39) |
|
probably benign |
Het |
| Gdi2 |
T |
C |
13: 3,606,373 (GRCm39) |
F140L |
probably benign |
Het |
| Gm28043 |
T |
C |
17: 29,910,400 (GRCm39) |
|
probably null |
Het |
| Gm5117 |
T |
A |
8: 32,227,412 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm6 |
G |
T |
3: 107,849,653 (GRCm39) |
N85K |
probably benign |
Het |
| Hip1r |
C |
T |
5: 124,137,006 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,839,706 (GRCm39) |
I671T |
probably benign |
Het |
| Insrr |
T |
G |
3: 87,718,927 (GRCm39) |
F961C |
probably damaging |
Het |
| Kbtbd8 |
T |
C |
6: 95,099,663 (GRCm39) |
Y314H |
probably damaging |
Het |
| Kif26b |
C |
A |
1: 178,743,512 (GRCm39) |
L756I |
probably damaging |
Het |
| Lcor |
G |
A |
19: 41,547,193 (GRCm39) |
R259Q |
possibly damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,129,689 (GRCm39) |
S449C |
probably damaging |
Het |
| Map1a |
T |
G |
2: 121,133,327 (GRCm39) |
L1381R |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,715,708 (GRCm39) |
V1992L |
possibly damaging |
Het |
| Pigp |
G |
A |
16: 94,165,626 (GRCm39) |
Q99* |
probably null |
Het |
| Pip4p2 |
T |
C |
4: 14,893,536 (GRCm39) |
I133T |
probably benign |
Het |
| Rgs8 |
A |
T |
1: 153,568,469 (GRCm39) |
|
probably null |
Het |
| Rnf170 |
T |
A |
8: 26,614,012 (GRCm39) |
L36H |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,599,807 (GRCm39) |
S1004G |
probably benign |
Het |
| Rpl10a-ps2 |
T |
C |
13: 8,990,779 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,752,759 (GRCm39) |
E1854V |
possibly damaging |
Het |
| Scn7a |
T |
G |
2: 66,505,843 (GRCm39) |
*1682S |
probably null |
Het |
| Sema3d |
A |
G |
5: 12,634,958 (GRCm39) |
T675A |
probably benign |
Het |
| Slc1a2 |
T |
C |
2: 102,586,434 (GRCm39) |
F346S |
probably damaging |
Het |
| St14 |
G |
T |
9: 31,011,426 (GRCm39) |
|
probably benign |
Het |
| Stard5 |
T |
C |
7: 83,289,653 (GRCm39) |
V173A |
possibly damaging |
Het |
| Taf1b |
A |
G |
12: 24,594,394 (GRCm39) |
Y309C |
possibly damaging |
Het |
| Tet1 |
T |
C |
10: 62,648,507 (GRCm39) |
N1975S |
possibly damaging |
Het |
| Them5 |
T |
A |
3: 94,251,782 (GRCm39) |
I131N |
probably damaging |
Het |
| Tnc |
A |
C |
4: 63,918,398 (GRCm39) |
V1171G |
possibly damaging |
Het |
| Ttc12 |
C |
A |
9: 49,351,482 (GRCm39) |
G672W |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,579,774 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
A |
G |
8: 107,624,807 (GRCm39) |
N92S |
probably benign |
Het |
| Was |
A |
T |
X: 7,956,554 (GRCm39) |
F38L |
possibly 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 |
|
|
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 |
|
R0392:Cyp2j7
|
UTSW |
4 |
96,087,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation