Incidental Mutation 'R3750:Cyp4v3'
| ID |
310147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4v3
|
| Ensembl Gene |
ENSMUSG00000079057 |
| Gene Name |
cytochrome P450, family 4, subfamily v, polypeptide 3 |
| Synonyms |
|
| MMRRC Submission |
040735-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3750 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
45304944-45333216 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 45315708 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 272
(R272*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095328]
|
| AlphaFold |
Q9DBW0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000095328
AA Change: R272*
|
| SMART Domains |
Protein: ENSMUSP00000092966
Gene: ENSMUSG00000079057
AA Change: R272*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
517 |
2.7e-123 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (38/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310035C23Rik |
C |
T |
1: 105,753,577 (GRCm38) |
T1178I |
probably damaging |
Het |
| Aasdh |
C |
A |
5: 76,888,654 (GRCm38) |
E347* |
probably null |
Het |
| Adam12 |
T |
C |
7: 134,172,865 (GRCm38) |
D5G |
probably damaging |
Het |
| Adam26b |
A |
C |
8: 43,521,197 (GRCm38) |
V256G |
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,461,044 (GRCm38) |
I125T |
probably benign |
Het |
| Bckdk |
C |
A |
7: 127,905,418 (GRCm38) |
R105S |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,615,455 (GRCm38) |
N319K |
possibly damaging |
Het |
| Clcn6 |
G |
T |
4: 148,024,187 (GRCm38) |
C128* |
probably null |
Het |
| Col6a4 |
C |
A |
9: 106,020,665 (GRCm38) |
|
probably null |
Het |
| Dlg5 |
G |
A |
14: 24,165,260 (GRCm38) |
A665V |
probably damaging |
Het |
| Foxd1 |
G |
C |
13: 98,355,916 (GRCm38) |
A433P |
unknown |
Het |
| Gm12800 |
T |
A |
4: 101,909,876 (GRCm38) |
D107E |
possibly damaging |
Het |
| Hsd17b3 |
A |
T |
13: 64,063,179 (GRCm38) |
|
probably null |
Het |
| Kcnc4 |
A |
G |
3: 107,448,190 (GRCm38) |
V314A |
probably benign |
Het |
| Lrba |
T |
G |
3: 86,375,953 (GRCm38) |
L1858R |
probably damaging |
Het |
| Marcks |
G |
A |
10: 37,140,870 (GRCm38) |
|
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,952,246 (GRCm38) |
W1513* |
probably null |
Het |
| Nefh |
A |
G |
11: 4,939,937 (GRCm38) |
V894A |
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 58,973,336 (GRCm38) |
Y650* |
probably null |
Het |
| Plce1 |
A |
C |
19: 38,777,899 (GRCm38) |
I2109L |
probably benign |
Het |
| Primpol |
A |
T |
8: 46,599,813 (GRCm38) |
D154E |
probably benign |
Het |
| Rtca |
A |
T |
3: 116,493,001 (GRCm38) |
F327L |
probably benign |
Het |
| Scn2a |
T |
G |
2: 65,713,771 (GRCm38) |
V832G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,740,737 (GRCm38) |
G933D |
possibly damaging |
Het |
| Skil |
A |
G |
3: 31,116,834 (GRCm38) |
N354S |
probably benign |
Het |
| Slk |
T |
G |
19: 47,619,809 (GRCm38) |
D400E |
possibly damaging |
Het |
| Spata31 |
G |
T |
13: 64,921,743 (GRCm38) |
L568F |
probably benign |
Het |
| Spon1 |
T |
C |
7: 113,766,384 (GRCm38) |
L19P |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 114,016,791 (GRCm38) |
V297E |
possibly damaging |
Het |
| Tas2r136 |
A |
T |
6: 132,777,237 (GRCm38) |
F309Y |
probably damaging |
Het |
| Tcp11l1 |
A |
G |
2: 104,698,542 (GRCm38) |
I137T |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,754,006 (GRCm38) |
H22253Y |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,333,350 (GRCm38) |
N975K |
possibly damaging |
Het |
| Usp1 |
C |
T |
4: 98,934,120 (GRCm38) |
|
probably null |
Het |
| Zfhx4 |
G |
A |
3: 5,243,165 (GRCm38) |
E484K |
possibly damaging |
Het |
| Zswim4 |
G |
A |
8: 84,212,047 (GRCm38) |
P1069S |
possibly damaging |
Het |
|
| Other mutations in Cyp4v3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Cyp4v3
|
APN |
8 |
45,307,003 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL00503:Cyp4v3
|
APN |
8 |
45,307,021 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL00757:Cyp4v3
|
APN |
8 |
45,320,615 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02375:Cyp4v3
|
APN |
8 |
45,308,374 (GRCm38) |
splice site |
probably null |
|
|
IGL02565:Cyp4v3
|
APN |
8 |
45,320,637 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
IGL02881:Cyp4v3
|
APN |
8 |
45,308,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0745:Cyp4v3
|
UTSW |
8 |
45,308,651 (GRCm38) |
unclassified |
probably benign |
|
|
R1818:Cyp4v3
|
UTSW |
8 |
45,315,636 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R1819:Cyp4v3
|
UTSW |
8 |
45,315,636 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R1902:Cyp4v3
|
UTSW |
8 |
45,306,952 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2426:Cyp4v3
|
UTSW |
8 |
45,317,776 (GRCm38) |
missense |
probably benign |
|
|
R3747:Cyp4v3
|
UTSW |
8 |
45,315,708 (GRCm38) |
nonsense |
probably null |
|
|
R3748:Cyp4v3
|
UTSW |
8 |
45,315,708 (GRCm38) |
nonsense |
probably null |
|
|
R4289:Cyp4v3
|
UTSW |
8 |
45,328,223 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4569:Cyp4v3
|
UTSW |
8 |
45,306,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4960:Cyp4v3
|
UTSW |
8 |
45,320,637 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R5260:Cyp4v3
|
UTSW |
8 |
45,306,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5479:Cyp4v3
|
UTSW |
8 |
45,310,206 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5667:Cyp4v3
|
UTSW |
8 |
45,308,535 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5940:Cyp4v3
|
UTSW |
8 |
45,321,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6102:Cyp4v3
|
UTSW |
8 |
45,320,160 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6470:Cyp4v3
|
UTSW |
8 |
45,317,736 (GRCm38) |
nonsense |
probably null |
|
|
R6592:Cyp4v3
|
UTSW |
8 |
45,306,981 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6700:Cyp4v3
|
UTSW |
8 |
45,307,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7027:Cyp4v3
|
UTSW |
8 |
45,310,252 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7341:Cyp4v3
|
UTSW |
8 |
45,321,750 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7966:Cyp4v3
|
UTSW |
8 |
45,332,917 (GRCm38) |
missense |
probably benign |
0.44 |
|
R8331:Cyp4v3
|
UTSW |
8 |
45,315,708 (GRCm38) |
nonsense |
probably null |
|
|
R8886:Cyp4v3
|
UTSW |
8 |
45,321,748 (GRCm38) |
nonsense |
probably null |
|
|
R8955:Cyp4v3
|
UTSW |
8 |
45,308,527 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8957:Cyp4v3
|
UTSW |
8 |
45,306,981 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9718:Cyp4v3
|
UTSW |
8 |
45,320,666 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGAAGGTGTCAACTTCCTC -3'
(R):5'- AAAACTCTGCGTTTGTCCTGTC -3'
Sequencing Primer
(F):5'- AAGGTGTCAACTTCCTCTCGGATG -3'
(R):5'- CTGAGAAAGTATCAGGTGGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation