Incidental Mutation 'IGL00233:Cyp4v3'
| ID |
306838 |
| 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 # |
IGL00233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
45304944-45333216 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45307003 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 64
(D64G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095328]
|
| AlphaFold |
Q9DBW0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095328
AA Change: D504G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000092966
Gene: ENSMUSG00000079057
AA Change: D504G
| 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: D64G
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000112174
Gene: ENSMUSG00000031640
AA Change: D64G
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aimp1 |
A |
T |
3: 132,677,143 (GRCm38) |
|
probably benign |
Het |
| Arpc5 |
A |
G |
1: 152,768,907 (GRCm38) |
I64V |
probably benign |
Het |
| C030048H21Rik |
G |
A |
2: 26,256,620 (GRCm38) |
R1227W |
probably damaging |
Het |
| Cacnb1 |
T |
C |
11: 98,022,364 (GRCm38) |
E21G |
possibly damaging |
Het |
| Catsper3 |
A |
G |
13: 55,798,822 (GRCm38) |
K111E |
possibly damaging |
Het |
| Cda |
T |
C |
4: 138,367,846 (GRCm38) |
Y33C |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,848,925 (GRCm38) |
R3118W |
probably damaging |
Het |
| Clvs1 |
G |
A |
4: 9,281,939 (GRCm38) |
G128R |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,185,225 (GRCm38) |
S163G |
unknown |
Het |
| Dst |
C |
A |
1: 34,251,839 (GRCm38) |
L837M |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,464,055 (GRCm38) |
I1349N |
probably damaging |
Het |
| Elob |
C |
A |
17: 23,824,980 (GRCm38) |
|
probably null |
Het |
| Glipr1 |
T |
A |
10: 111,985,650 (GRCm38) |
I216L |
probably benign |
Het |
| Gm3238 |
C |
T |
10: 77,771,292 (GRCm38) |
|
probably benign |
Het |
| Gm43638 |
C |
T |
5: 87,460,399 (GRCm38) |
R527H |
probably damaging |
Het |
| H2-M11 |
A |
G |
17: 36,547,553 (GRCm38) |
K80E |
probably benign |
Het |
| Htt |
A |
G |
5: 34,896,026 (GRCm38) |
|
probably null |
Het |
| Kif26a |
A |
G |
12: 112,157,632 (GRCm38) |
S224G |
probably damaging |
Het |
| Mgat5b |
T |
A |
11: 116,931,662 (GRCm38) |
M74K |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,322,360 (GRCm38) |
V89D |
probably damaging |
Het |
| Nlrx1 |
G |
A |
9: 44,264,068 (GRCm38) |
T137I |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,436,982 (GRCm38) |
T394A |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,477,586 (GRCm38) |
I151T |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,406,536 (GRCm38) |
V50A |
probably benign |
Het |
| Prkd2 |
T |
C |
7: 16,865,862 (GRCm38) |
F750S |
probably damaging |
Het |
| Psmd13 |
T |
C |
7: 140,897,621 (GRCm38) |
V311A |
probably damaging |
Het |
| Rec8 |
C |
T |
14: 55,623,515 (GRCm38) |
Q334* |
probably null |
Het |
| Rfx7 |
G |
A |
9: 72,607,690 (GRCm38) |
V157I |
probably damaging |
Het |
| Sele |
G |
A |
1: 164,051,834 (GRCm38) |
C312Y |
probably damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,748,319 (GRCm38) |
T694A |
probably benign |
Het |
| Tma16 |
G |
T |
8: 66,480,445 (GRCm38) |
Q95K |
probably benign |
Het |
| Vmn1r191 |
T |
C |
13: 22,178,720 (GRCm38) |
D288G |
probably damaging |
Het |
| Vmn1r231 |
A |
T |
17: 20,890,566 (GRCm38) |
I29N |
possibly damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,104,968 (GRCm38) |
L750* |
probably null |
Het |
|
| Other mutations in Cyp4v3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R3750: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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation