Incidental Mutation 'IGL00505:Cyp2j5'
| ID |
6627 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2j5
|
| Ensembl Gene |
ENSMUSG00000052520 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL00505
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
96517010-96552391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96519012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 421
(N421K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030299]
|
| AlphaFold |
O54749 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030299
AA Change: N421K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030299
Gene: ENSMUSG00000052520
AA Change: N421K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
497 |
2.3e-140 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Female mice homozygous for a null mutation display increased systolic blood pressure, increased left ventricular weight, decreased litter sizes, decreased serum estrogen levels, and increased induced vasoconstriction responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,968,459 (GRCm39) |
|
probably null |
Het |
| Akap6 |
A |
G |
12: 52,933,885 (GRCm39) |
H459R |
possibly damaging |
Het |
| Anxa5 |
A |
G |
3: 36,511,646 (GRCm39) |
S144P |
possibly damaging |
Het |
| Cacna1h |
T |
G |
17: 25,600,482 (GRCm39) |
T1620P |
probably damaging |
Het |
| Cdc27 |
T |
G |
11: 104,412,258 (GRCm39) |
T444P |
probably benign |
Het |
| Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,306,886 (GRCm39) |
R868G |
possibly damaging |
Het |
| Dhcr7 |
T |
C |
7: 143,400,805 (GRCm39) |
Y323H |
probably damaging |
Het |
| Dnai4 |
G |
T |
4: 102,960,439 (GRCm39) |
S70R |
possibly damaging |
Het |
| Gabrq |
T |
C |
X: 71,881,971 (GRCm39) |
S601P |
probably damaging |
Het |
| Gm3404 |
T |
A |
5: 146,465,095 (GRCm39) |
D278E |
probably damaging |
Het |
| Gpr61 |
A |
G |
3: 108,058,514 (GRCm39) |
M49T |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,219,827 (GRCm39) |
F253S |
probably damaging |
Het |
| Ndst3 |
G |
A |
3: 123,421,599 (GRCm39) |
|
probably benign |
Het |
| Rcor3 |
C |
T |
1: 191,812,271 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
C |
A |
16: 36,574,137 (GRCm39) |
C572F |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Spaca1 |
A |
G |
4: 34,029,077 (GRCm39) |
I132T |
probably damaging |
Het |
| Spag6 |
C |
A |
2: 18,738,995 (GRCm39) |
N308K |
probably benign |
Het |
| Stac |
C |
T |
9: 111,464,107 (GRCm39) |
R53Q |
probably damaging |
Het |
| Tekt3 |
A |
G |
11: 62,961,064 (GRCm39) |
S78G |
probably benign |
Het |
| Vdac3 |
C |
T |
8: 23,070,393 (GRCm39) |
G172S |
possibly damaging |
Het |
| Wdr87-ps |
A |
C |
7: 29,233,608 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Cyp2j5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00670:Cyp2j5
|
APN |
4 |
96,522,512 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00824:Cyp2j5
|
APN |
4 |
96,552,160 (GRCm39) |
missense |
probably benign |
|
|
IGL01450:Cyp2j5
|
APN |
4 |
96,546,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01621:Cyp2j5
|
APN |
4 |
96,517,791 (GRCm39) |
missense |
probably benign |
|
|
IGL02639:Cyp2j5
|
APN |
4 |
96,546,986 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03024:Cyp2j5
|
APN |
4 |
96,517,760 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03212:Cyp2j5
|
APN |
4 |
96,552,055 (GRCm39) |
missense |
probably damaging |
0.97 |
|
aesculapius
|
UTSW |
4 |
96,547,849 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Kaduceus
|
UTSW |
4 |
96,524,052 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0112:Cyp2j5
|
UTSW |
4 |
96,517,760 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0626:Cyp2j5
|
UTSW |
4 |
96,547,749 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1387:Cyp2j5
|
UTSW |
4 |
96,522,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1638:Cyp2j5
|
UTSW |
4 |
96,524,052 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1857:Cyp2j5
|
UTSW |
4 |
96,547,723 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1920:Cyp2j5
|
UTSW |
4 |
96,551,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Cyp2j5
|
UTSW |
4 |
96,529,577 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2213:Cyp2j5
|
UTSW |
4 |
96,547,852 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4028:Cyp2j5
|
UTSW |
4 |
96,529,653 (GRCm39) |
nonsense |
probably null |
|
|
R4895:Cyp2j5
|
UTSW |
4 |
96,551,347 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5132:Cyp2j5
|
UTSW |
4 |
96,517,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5149:Cyp2j5
|
UTSW |
4 |
96,547,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5666:Cyp2j5
|
UTSW |
4 |
96,546,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6676:Cyp2j5
|
UTSW |
4 |
96,524,045 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7328:Cyp2j5
|
UTSW |
4 |
96,551,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7853:Cyp2j5
|
UTSW |
4 |
96,529,656 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7943:Cyp2j5
|
UTSW |
4 |
96,547,849 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8016:Cyp2j5
|
UTSW |
4 |
96,546,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8052:Cyp2j5
|
UTSW |
4 |
96,552,241 (GRCm39) |
missense |
probably benign |
|
|
R8064:Cyp2j5
|
UTSW |
4 |
96,546,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8711:Cyp2j5
|
UTSW |
4 |
96,529,660 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8890:Cyp2j5
|
UTSW |
4 |
96,522,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8929:Cyp2j5
|
UTSW |
4 |
96,546,977 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9006:Cyp2j5
|
UTSW |
4 |
96,552,149 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9433:Cyp2j5
|
UTSW |
4 |
96,552,244 (GRCm39) |
missense |
probably benign |
|
|
R9465:Cyp2j5
|
UTSW |
4 |
96,522,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9469:Cyp2j5
|
UTSW |
4 |
96,517,731 (GRCm39) |
nonsense |
probably null |
|
|
R9631:Cyp2j5
|
UTSW |
4 |
96,529,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cyp2j5
|
UTSW |
4 |
96,517,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cyp2j5
|
UTSW |
4 |
96,547,717 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation