Incidental Mutation 'IGL02565:Cyp4v3'
| ID |
298803 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp4v3
|
| Ensembl Gene |
ENSMUSG00000079057 |
| Gene Name |
cytochrome P450, family 4, subfamily v, polypeptide 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
45758838-45786200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45773674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 165
(V165A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095328]
|
| AlphaFold |
Q9DBW0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095328
AA Change: V165A
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092966
Gene: ENSMUSG00000079057
AA Change: V165A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
517 |
2.7e-123 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit corneoretinal crystal accumulation and systemic dyslipidemia characteristic of Bietti Crystalline Dystrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
T |
A |
X: 126,302,677 (GRCm39) |
S205R |
probably benign |
Het |
| Adora3 |
A |
G |
3: 105,815,128 (GRCm39) |
T293A |
probably benign |
Het |
| App |
T |
C |
16: 84,822,308 (GRCm39) |
|
probably null |
Het |
| Asap1 |
A |
G |
15: 64,001,014 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
A |
1: 146,777,770 (GRCm39) |
V739E |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,990,487 (GRCm39) |
V1755A |
probably damaging |
Het |
| Clmp |
A |
C |
9: 40,683,711 (GRCm39) |
D147A |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 10,145,343 (GRCm39) |
C122* |
probably null |
Het |
| Ctsb |
T |
G |
14: 63,375,859 (GRCm39) |
C198G |
probably null |
Het |
| Cyld |
A |
T |
8: 89,467,919 (GRCm39) |
R702S |
probably damaging |
Het |
| Dpy19l4 |
C |
A |
4: 11,309,440 (GRCm39) |
V59F |
probably benign |
Het |
| Eml1 |
A |
T |
12: 108,472,779 (GRCm39) |
T196S |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,564,318 (GRCm39) |
D22E |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,369,858 (GRCm39) |
H1150R |
probably damaging |
Het |
| Grk5 |
T |
G |
19: 61,057,809 (GRCm39) |
F170V |
probably damaging |
Het |
| Heatr5a |
A |
C |
12: 51,997,882 (GRCm39) |
V339G |
possibly damaging |
Het |
| Hgd |
T |
A |
16: 37,435,749 (GRCm39) |
D153E |
possibly damaging |
Het |
| Ift70b |
A |
G |
2: 75,768,247 (GRCm39) |
Y169H |
probably benign |
Het |
| Igdcc3 |
T |
A |
9: 65,087,470 (GRCm39) |
L336Q |
probably damaging |
Het |
| Jph2 |
T |
C |
2: 163,239,265 (GRCm39) |
E61G |
probably damaging |
Het |
| Ktn1 |
A |
T |
14: 47,910,391 (GRCm39) |
|
probably benign |
Het |
| Lrch3 |
T |
A |
16: 32,826,084 (GRCm39) |
D634E |
probably benign |
Het |
| Marchf6 |
T |
C |
15: 31,490,712 (GRCm39) |
|
probably benign |
Het |
| Misp |
T |
A |
10: 79,662,177 (GRCm39) |
I198N |
probably benign |
Het |
| Mmp14 |
C |
T |
14: 54,678,014 (GRCm39) |
P545L |
probably benign |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,411,604 (GRCm39) |
S1517P |
unknown |
Het |
| Nae1 |
A |
T |
8: 105,237,841 (GRCm39) |
N518K |
probably damaging |
Het |
| Pglyrp4 |
A |
T |
3: 90,642,794 (GRCm39) |
D225V |
probably benign |
Het |
| Pgpep1 |
A |
G |
8: 71,105,119 (GRCm39) |
I47T |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pitpnc1 |
G |
A |
11: 107,187,059 (GRCm39) |
T88I |
probably damaging |
Het |
| Poldip2 |
T |
C |
11: 78,408,678 (GRCm39) |
I181T |
probably damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,699,247 (GRCm39) |
|
probably null |
Het |
| Rasal1 |
A |
G |
5: 120,814,845 (GRCm39) |
|
probably benign |
Het |
| Rbms1 |
A |
G |
2: 60,590,123 (GRCm39) |
Y305H |
probably benign |
Het |
| Rnf123 |
A |
C |
9: 107,929,411 (GRCm39) |
|
probably null |
Het |
| Sec14l3 |
G |
A |
11: 4,026,237 (GRCm39) |
|
probably benign |
Het |
| Slc2a10 |
A |
C |
2: 165,357,000 (GRCm39) |
D220A |
probably damaging |
Het |
| Slc38a8 |
T |
C |
8: 120,212,300 (GRCm39) |
T348A |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,276,487 (GRCm39) |
V1104A |
probably benign |
Het |
| Snrpe |
T |
C |
1: 133,536,704 (GRCm39) |
|
probably benign |
Het |
| Th |
C |
A |
7: 142,453,647 (GRCm39) |
V18F |
probably damaging |
Het |
| Ubqln5 |
G |
A |
7: 103,778,279 (GRCm39) |
Q182* |
probably null |
Het |
| Unc5c |
T |
C |
3: 141,509,680 (GRCm39) |
V646A |
probably damaging |
Het |
| Wasf1 |
A |
G |
10: 40,812,128 (GRCm39) |
N306D |
possibly damaging |
Het |
|
| Other mutations in Cyp4v3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Cyp4v3
|
APN |
8 |
45,760,040 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00503:Cyp4v3
|
APN |
8 |
45,760,058 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00757:Cyp4v3
|
APN |
8 |
45,773,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02375:Cyp4v3
|
APN |
8 |
45,761,411 (GRCm39) |
splice site |
probably null |
|
|
IGL02881:Cyp4v3
|
APN |
8 |
45,761,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0745:Cyp4v3
|
UTSW |
8 |
45,761,688 (GRCm39) |
unclassified |
probably benign |
|
|
R1818:Cyp4v3
|
UTSW |
8 |
45,768,673 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1819:Cyp4v3
|
UTSW |
8 |
45,768,673 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1902:Cyp4v3
|
UTSW |
8 |
45,759,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2426:Cyp4v3
|
UTSW |
8 |
45,770,813 (GRCm39) |
missense |
probably benign |
|
|
R3747:Cyp4v3
|
UTSW |
8 |
45,768,745 (GRCm39) |
nonsense |
probably null |
|
|
R3748:Cyp4v3
|
UTSW |
8 |
45,768,745 (GRCm39) |
nonsense |
probably null |
|
|
R3750:Cyp4v3
|
UTSW |
8 |
45,768,745 (GRCm39) |
nonsense |
probably null |
|
|
R4289:Cyp4v3
|
UTSW |
8 |
45,781,260 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4569:Cyp4v3
|
UTSW |
8 |
45,760,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Cyp4v3
|
UTSW |
8 |
45,773,674 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5260:Cyp4v3
|
UTSW |
8 |
45,760,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5479:Cyp4v3
|
UTSW |
8 |
45,763,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5667:Cyp4v3
|
UTSW |
8 |
45,761,572 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5940:Cyp4v3
|
UTSW |
8 |
45,774,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6102:Cyp4v3
|
UTSW |
8 |
45,773,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6470:Cyp4v3
|
UTSW |
8 |
45,770,773 (GRCm39) |
nonsense |
probably null |
|
|
R6592:Cyp4v3
|
UTSW |
8 |
45,760,018 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6700:Cyp4v3
|
UTSW |
8 |
45,760,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Cyp4v3
|
UTSW |
8 |
45,763,289 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7341:Cyp4v3
|
UTSW |
8 |
45,774,787 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7966:Cyp4v3
|
UTSW |
8 |
45,785,954 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8331:Cyp4v3
|
UTSW |
8 |
45,768,745 (GRCm39) |
nonsense |
probably null |
|
|
R8886:Cyp4v3
|
UTSW |
8 |
45,774,785 (GRCm39) |
nonsense |
probably null |
|
|
R8955:Cyp4v3
|
UTSW |
8 |
45,761,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8957:Cyp4v3
|
UTSW |
8 |
45,760,018 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9718:Cyp4v3
|
UTSW |
8 |
45,773,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation