Incidental Mutation 'R5479:Cyp4v3'
ID |
434216 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp4v3
|
Ensembl Gene |
ENSMUSG00000079057 |
Gene Name |
cytochrome P450, family 4, subfamily v, polypeptide 3 |
Synonyms |
|
MMRRC Submission |
043040-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5479 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
45758838-45786200 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 45763243 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 356
(D356V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092966
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095328]
|
AlphaFold |
Q9DBW0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095328
AA Change: D356V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000092966 Gene: ENSMUSG00000079057 AA Change: D356V
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 |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.3%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl5 |
G |
T |
19: 55,268,894 (GRCm39) |
C185F |
probably damaging |
Het |
Adad2 |
C |
A |
8: 120,341,654 (GRCm39) |
T185N |
possibly damaging |
Het |
Apbb1 |
A |
T |
7: 105,214,232 (GRCm39) |
V315E |
probably damaging |
Het |
Arfrp1 |
T |
C |
2: 181,006,191 (GRCm39) |
T32A |
probably damaging |
Het |
B020004C17Rik |
T |
C |
14: 57,253,999 (GRCm39) |
S41P |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,721,743 (GRCm39) |
|
probably null |
Het |
Chd8 |
C |
T |
14: 52,452,652 (GRCm39) |
G1289D |
probably benign |
Het |
Ctrl |
A |
G |
8: 106,659,672 (GRCm39) |
F59S |
probably damaging |
Het |
Dgka |
T |
A |
10: 128,565,541 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
C |
1: 46,262,265 (GRCm39) |
Y2043H |
probably damaging |
Het |
Eya3 |
A |
G |
4: 132,400,244 (GRCm39) |
T88A |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,489,912 (GRCm39) |
D3608G |
possibly damaging |
Het |
Fmo1 |
T |
C |
1: 162,677,793 (GRCm39) |
T108A |
probably damaging |
Het |
Frs3 |
A |
G |
17: 48,012,635 (GRCm39) |
E114G |
probably damaging |
Het |
Ftcd |
A |
T |
10: 76,413,850 (GRCm39) |
M85L |
probably benign |
Het |
Ggnbp2 |
T |
C |
11: 84,745,169 (GRCm39) |
S189G |
probably benign |
Het |
Gm3629 |
C |
T |
14: 17,875,765 (GRCm39) |
R35H |
unknown |
Het |
Gnai2 |
T |
G |
9: 107,512,365 (GRCm39) |
M18L |
probably benign |
Het |
Gpx5 |
T |
C |
13: 21,476,805 (GRCm39) |
Y9C |
probably benign |
Het |
Grik1 |
C |
A |
16: 87,732,914 (GRCm39) |
A668S |
probably damaging |
Het |
Hectd4 |
A |
T |
5: 121,445,011 (GRCm39) |
M83L |
probably benign |
Het |
Klra9 |
T |
C |
6: 130,156,075 (GRCm39) |
R227G |
probably benign |
Het |
Maz |
A |
T |
7: 126,624,860 (GRCm39) |
V197D |
possibly damaging |
Het |
Mbd5 |
T |
C |
2: 49,162,917 (GRCm39) |
V241A |
probably damaging |
Het |
Mdga2 |
C |
T |
12: 66,701,950 (GRCm39) |
C417Y |
probably damaging |
Het |
Mios |
C |
T |
6: 8,215,314 (GRCm39) |
T170I |
probably benign |
Het |
Myh13 |
G |
A |
11: 67,239,648 (GRCm39) |
A733T |
probably damaging |
Het |
Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
Nfs1 |
G |
A |
2: 155,970,422 (GRCm39) |
T297I |
probably damaging |
Het |
Nrbf2 |
A |
G |
10: 67,120,870 (GRCm39) |
|
probably null |
Het |
Nrg1 |
T |
C |
8: 32,308,405 (GRCm39) |
Y537C |
probably damaging |
Het |
Onecut3 |
T |
A |
10: 80,349,856 (GRCm39) |
L450Q |
probably damaging |
Het |
Or4p8 |
T |
C |
2: 88,727,035 (GRCm39) |
D302G |
probably benign |
Het |
Pard3 |
G |
A |
8: 128,096,836 (GRCm39) |
R333Q |
probably damaging |
Het |
Parp4 |
T |
C |
14: 56,861,552 (GRCm39) |
F962L |
probably benign |
Het |
Pilra |
A |
G |
5: 137,834,318 (GRCm39) |
S22P |
possibly damaging |
Het |
Piwil4 |
T |
C |
9: 14,616,337 (GRCm39) |
Y673C |
probably damaging |
Het |
Plxna2 |
G |
A |
1: 194,476,181 (GRCm39) |
D1134N |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,909,453 (GRCm39) |
V681A |
possibly damaging |
Het |
Ppfibp1 |
T |
A |
6: 146,931,648 (GRCm39) |
|
probably null |
Het |
Ptprz1 |
C |
T |
6: 23,001,665 (GRCm39) |
L1252F |
probably benign |
Het |
Sptb |
T |
C |
12: 76,646,625 (GRCm39) |
E1999G |
probably benign |
Het |
Stat3 |
T |
C |
11: 100,780,714 (GRCm39) |
|
probably benign |
Het |
Usp25 |
T |
C |
16: 76,904,801 (GRCm39) |
V789A |
possibly damaging |
Het |
Zfp148 |
C |
A |
16: 33,317,589 (GRCm39) |
Q712K |
probably 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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTGGGATAGTCACATGTCAGG -3'
(R):5'- ACACTGAAGCTGTGAGAAGC -3'
Sequencing Primer
(F):5'- ATGCCTGCTAGGGAATTCAC -3'
(R):5'- GCAGAGTGCGTTCAGTTTCTTCC -3'
|
Posted On |
2016-10-06 |