Incidental Mutation 'R6592:Cyp4v3'
ID |
524644 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp4v3
|
Ensembl Gene |
ENSMUSG00000079057 |
Gene Name |
cytochrome P450, family 4, subfamily v, polypeptide 3 |
Synonyms |
|
MMRRC Submission |
044716-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6592 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
45758838-45786200 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45760018 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 511
(N511K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092966
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095328]
|
AlphaFold |
Q9DBW0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095328
AA Change: N511K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000092966 Gene: ENSMUSG00000079057 AA Change: N511K
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
AA Change: N71K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112174 Gene: ENSMUSG00000031640 AA Change: N71K
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 |
|
Meta Mutation Damage Score |
0.1602 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
94% (31/33) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
A |
G |
10: 106,859,579 (GRCm39) |
V340A |
possibly damaging |
Het |
Btbd17 |
T |
C |
11: 114,682,302 (GRCm39) |
Y470C |
probably damaging |
Het |
Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
Efcab5 |
G |
T |
11: 77,004,436 (GRCm39) |
Q1097K |
possibly damaging |
Het |
Epha7 |
T |
C |
4: 28,813,482 (GRCm39) |
|
probably null |
Het |
Exoc6 |
A |
G |
19: 37,560,360 (GRCm39) |
T126A |
probably benign |
Het |
Fnip2 |
T |
C |
3: 79,389,015 (GRCm39) |
Q572R |
probably benign |
Het |
Gm17430 |
C |
T |
18: 9,726,514 (GRCm39) |
V53I |
probably benign |
Het |
Gpr149 |
T |
C |
3: 62,437,961 (GRCm39) |
D732G |
probably benign |
Het |
Hdlbp |
A |
G |
1: 93,340,083 (GRCm39) |
|
probably null |
Het |
Herc2 |
A |
G |
7: 55,857,438 (GRCm39) |
|
probably null |
Het |
Htt |
C |
T |
5: 35,034,388 (GRCm39) |
T1953I |
possibly damaging |
Het |
Lgmn |
C |
T |
12: 102,370,529 (GRCm39) |
V134I |
probably damaging |
Het |
Lhfpl7 |
A |
G |
5: 113,382,329 (GRCm39) |
Y34C |
probably damaging |
Het |
Lysmd1 |
A |
G |
3: 95,045,197 (GRCm39) |
S148G |
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,002,947 (GRCm39) |
D1054G |
probably damaging |
Het |
Mcph1 |
A |
G |
8: 18,718,983 (GRCm39) |
T640A |
probably damaging |
Het |
Nat10 |
T |
C |
2: 103,584,495 (GRCm39) |
E94G |
probably null |
Het |
Or4a67 |
G |
A |
2: 88,598,471 (GRCm39) |
H63Y |
probably damaging |
Het |
Or5v1 |
T |
A |
17: 37,809,988 (GRCm39) |
W149R |
probably damaging |
Het |
Pgm3 |
A |
G |
9: 86,441,496 (GRCm39) |
V367A |
possibly damaging |
Het |
Ppp1r1a |
A |
C |
15: 103,439,799 (GRCm39) |
D164E |
probably damaging |
Het |
Proca1 |
G |
T |
11: 78,095,779 (GRCm39) |
S137I |
probably benign |
Het |
Serinc5 |
T |
C |
13: 92,844,634 (GRCm39) |
F459L |
possibly damaging |
Het |
Slc12a8 |
T |
C |
16: 33,437,626 (GRCm39) |
|
probably null |
Het |
Slc51a |
T |
C |
16: 32,294,621 (GRCm39) |
D321G |
probably damaging |
Het |
Tchhl1 |
T |
A |
3: 93,378,116 (GRCm39) |
D273E |
probably damaging |
Het |
Tlk1 |
G |
A |
2: 70,544,497 (GRCm39) |
R713C |
probably damaging |
Het |
Tpr |
T |
C |
1: 150,287,656 (GRCm39) |
I465T |
possibly damaging |
Het |
Usp1 |
A |
G |
4: 98,814,756 (GRCm39) |
I5M |
possibly damaging |
Het |
Zcchc14 |
T |
C |
8: 122,331,378 (GRCm39) |
|
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 |
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 |
|
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'- GACTGTGTCCCAAGATCTGG -3'
(R):5'- CCTACGTGGATGTGAAGTGC -3'
Sequencing Primer
(F):5'- CCAAGATCTGGGGTGCAG -3'
(R):5'- TGCAGCTTCGGTATCTCATG -3'
|
Posted On |
2018-06-22 |