Incidental Mutation 'IGL02881:Cyp4v3'
| ID |
362815 |
| 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 # |
IGL02881
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
45758838-45786200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45761753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 389
(L389H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095328]
|
| AlphaFold |
Q9DBW0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095328
AA Change: L389H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092966
Gene: ENSMUSG00000079057
AA Change: L389H
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
C |
A |
8: 13,605,999 (GRCm39) |
|
probably benign |
Het |
| Aatf |
A |
G |
11: 84,362,115 (GRCm39) |
|
probably benign |
Het |
| Asap3 |
A |
T |
4: 135,966,548 (GRCm39) |
H542L |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,932,944 (GRCm39) |
E3605K |
probably damaging |
Het |
| Fry |
C |
T |
5: 150,282,516 (GRCm39) |
T347M |
probably damaging |
Het |
| Glul |
C |
A |
1: 153,782,862 (GRCm39) |
T191K |
probably benign |
Het |
| Grsf1 |
A |
T |
5: 88,821,689 (GRCm39) |
L125Q |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,022,118 (GRCm39) |
I976T |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,740,275 (GRCm39) |
T462A |
probably benign |
Het |
| Lmna |
G |
T |
3: 88,410,233 (GRCm39) |
R60S |
possibly damaging |
Het |
| Mrpl10 |
T |
A |
11: 96,937,899 (GRCm39) |
V89D |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,411,449 (GRCm39) |
T1465I |
unknown |
Het |
| Myh15 |
A |
C |
16: 48,937,628 (GRCm39) |
D743A |
possibly damaging |
Het |
| Noxo1 |
C |
A |
17: 24,918,409 (GRCm39) |
L190I |
probably damaging |
Het |
| Noxo1 |
T |
A |
17: 24,918,410 (GRCm39) |
L190Q |
probably damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or2aj5 |
A |
T |
16: 19,425,050 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or4c121 |
T |
A |
2: 89,023,985 (GRCm39) |
Y131F |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,460 (GRCm39) |
S64G |
probably benign |
Het |
| Or8h8 |
A |
G |
2: 86,753,057 (GRCm39) |
V273A |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 108,836,364 (GRCm39) |
T131A |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,466,829 (GRCm39) |
|
probably null |
Het |
| Pnliprp2 |
A |
G |
19: 58,759,878 (GRCm39) |
D363G |
probably benign |
Het |
| Prpf6 |
C |
T |
2: 181,273,864 (GRCm39) |
T336I |
probably benign |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Sae1 |
T |
G |
7: 16,093,043 (GRCm39) |
K221N |
probably damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,722,987 (GRCm39) |
K299R |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,917,969 (GRCm39) |
R636G |
probably benign |
Het |
| Smad2 |
C |
A |
18: 76,432,851 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
T |
C |
15: 94,777,306 (GRCm39) |
F152S |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,757,365 (GRCm39) |
C276Y |
probably damaging |
Het |
| Tor1b |
A |
T |
2: 30,843,865 (GRCm39) |
K47* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,740,147 (GRCm39) |
V3464A |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,550,945 (GRCm39) |
T870A |
possibly damaging |
Het |
| Zscan25 |
T |
G |
5: 145,227,296 (GRCm39) |
L320R |
probably benign |
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 |
|
|
IGL02565:Cyp4v3
|
APN |
8 |
45,773,674 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
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 |
2015-12-18 |
Incidental Mutation