Incidental Mutation 'IGL02375:Cyp4v3'
ID |
291087 |
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 # |
IGL02375
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
45758838-45786200 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 45761411 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092966
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095328]
|
AlphaFold |
Q9DBW0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000095328
|
SMART Domains |
Protein: ENSMUSP00000092966 Gene: ENSMUSG00000079057
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:p450
|
51 |
517 |
2.7e-123 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116473
|
SMART Domains |
Protein: ENSMUSP00000112174 Gene: ENSMUSG00000031640
Domain | Start | End | E-Value | Type |
APPLE
|
21 |
104 |
1.96e-40 |
SMART |
APPLE
|
111 |
194 |
3.93e-40 |
SMART |
APPLE
|
201 |
284 |
2.65e-37 |
SMART |
APPLE
|
292 |
375 |
1.34e-33 |
SMART |
Tryp_SPc
|
390 |
621 |
2.22e-99 |
SMART |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
A |
6: 146,854,813 (GRCm39) |
K76N |
possibly damaging |
Het |
Agxt |
A |
G |
1: 93,063,425 (GRCm39) |
E109G |
probably damaging |
Het |
Alcam |
T |
C |
16: 52,109,299 (GRCm39) |
T325A |
probably benign |
Het |
Apol7c |
T |
C |
15: 77,413,049 (GRCm39) |
E67G |
probably damaging |
Het |
Bco1 |
C |
A |
8: 117,840,178 (GRCm39) |
S232Y |
probably benign |
Het |
Cacna1c |
A |
T |
6: 118,652,884 (GRCm39) |
V763D |
probably damaging |
Het |
Ccdc15 |
T |
C |
9: 37,215,628 (GRCm39) |
D618G |
probably damaging |
Het |
Cimip1 |
A |
G |
2: 173,364,496 (GRCm39) |
M14V |
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,783,312 (GRCm39) |
N1603S |
unknown |
Het |
Eml5 |
A |
T |
12: 98,810,346 (GRCm39) |
V870E |
probably damaging |
Het |
Epn2 |
A |
G |
11: 61,410,497 (GRCm39) |
V512A |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,504,185 (GRCm39) |
R321G |
probably damaging |
Het |
Garin3 |
G |
T |
11: 46,297,379 (GRCm39) |
V228L |
probably damaging |
Het |
Gprasp1 |
T |
C |
X: 134,701,552 (GRCm39) |
S582P |
probably damaging |
Het |
Grhl2 |
T |
C |
15: 37,291,821 (GRCm39) |
V303A |
probably damaging |
Het |
Grik1 |
A |
T |
16: 87,743,444 (GRCm39) |
F594L |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,309,925 (GRCm39) |
K722E |
probably benign |
Het |
Htr5b |
G |
A |
1: 121,455,564 (GRCm39) |
R119C |
probably damaging |
Het |
Ifit2 |
T |
C |
19: 34,551,737 (GRCm39) |
S426P |
probably benign |
Het |
Kif13a |
T |
C |
13: 46,978,698 (GRCm39) |
Y234C |
probably damaging |
Het |
Mios |
T |
A |
6: 8,222,598 (GRCm39) |
F511I |
probably benign |
Het |
Mtfmt |
T |
C |
9: 65,346,849 (GRCm39) |
W148R |
probably damaging |
Het |
Myo1c |
C |
A |
11: 75,552,400 (GRCm39) |
T391N |
probably benign |
Het |
Nlrp1a |
A |
T |
11: 71,004,339 (GRCm39) |
L710* |
probably null |
Het |
Nlrp1b |
A |
G |
11: 71,052,506 (GRCm39) |
I971T |
probably damaging |
Het |
Nup43 |
A |
G |
10: 7,549,358 (GRCm39) |
D171G |
probably damaging |
Het |
Or5b12b |
A |
G |
19: 12,861,305 (GRCm39) |
E20G |
probably benign |
Het |
P2rx7 |
T |
C |
5: 122,811,719 (GRCm39) |
|
probably benign |
Het |
Pgap6 |
T |
A |
17: 26,338,473 (GRCm39) |
Y512N |
probably benign |
Het |
Poli |
C |
T |
18: 70,656,363 (GRCm39) |
G155R |
probably damaging |
Het |
Rad9b |
T |
C |
5: 122,471,405 (GRCm39) |
S220G |
possibly damaging |
Het |
Rgn |
C |
T |
X: 20,416,700 (GRCm39) |
S28L |
probably damaging |
Het |
Tcp11l2 |
G |
A |
10: 84,440,932 (GRCm39) |
|
probably null |
Het |
Tenm4 |
G |
A |
7: 96,353,344 (GRCm39) |
V379I |
possibly damaging |
Het |
Thsd7a |
A |
T |
6: 12,343,264 (GRCm39) |
C1118S |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,667,664 (GRCm39) |
Y776H |
probably damaging |
Het |
Trpv4 |
T |
C |
5: 114,774,418 (GRCm39) |
N222S |
probably benign |
Het |
Tut1 |
C |
T |
19: 8,941,403 (GRCm39) |
R397C |
probably damaging |
Het |
Vmn1r72 |
T |
A |
7: 11,403,672 (GRCm39) |
T259S |
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,149,423 (GRCm39) |
S2P |
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 |
IGL02565:Cyp4v3
|
APN |
8 |
45,773,674 (GRCm39) |
missense |
possibly damaging |
0.63 |
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 |