Incidental Mutation 'R2892:Cyp4f15'
| ID |
260143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4f15
|
| Ensembl Gene |
ENSMUSG00000073424 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 15 |
| Synonyms |
|
| MMRRC Submission |
040480-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.633)
|
| Stock # |
R2892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
32904605-32922329 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32905182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 55
(D55G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129264
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008801]
[ENSMUST00000168171]
|
| AlphaFold |
Q99N18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008801
AA Change: D55G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000008801
Gene: ENSMUSG00000073424
AA Change: D55G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
|
Pfam:p450
|
57 |
520 |
8.4e-137 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167789
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168171
AA Change: D55G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129264
Gene: ENSMUSG00000073424
AA Change: D55G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
|
Pfam:p450
|
57 |
527 |
3.2e-133 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP4F8, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 kb away. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,751,661 (GRCm39) |
D232G |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Atp6v0a4 |
T |
C |
6: 38,029,952 (GRCm39) |
E704G |
probably benign |
Het |
| Bbx |
A |
G |
16: 50,045,104 (GRCm39) |
Y378H |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,735,770 (GRCm39) |
V574A |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,668,473 (GRCm39) |
V379A |
probably damaging |
Het |
| Dcun1d2 |
A |
T |
8: 13,328,649 (GRCm39) |
I86N |
probably damaging |
Het |
| Defa30 |
A |
T |
8: 21,624,679 (GRCm39) |
M1L |
probably damaging |
Het |
| Fzd8 |
G |
T |
18: 9,214,514 (GRCm39) |
G532V |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,933,894 (GRCm39) |
F717S |
possibly damaging |
Het |
| Gckr |
T |
C |
5: 31,483,816 (GRCm39) |
V563A |
probably benign |
Het |
| Ighv1-24 |
T |
G |
12: 114,736,679 (GRCm39) |
K74Q |
probably benign |
Het |
| Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
| Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
| Mmrn2 |
T |
G |
14: 34,118,587 (GRCm39) |
F158V |
probably benign |
Het |
| Mug1 |
G |
A |
6: 121,817,029 (GRCm39) |
V33M |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,341,648 (GRCm39) |
S136P |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,671,817 (GRCm39) |
N232S |
possibly damaging |
Het |
| Or6c217 |
A |
G |
10: 129,737,809 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Or7g27 |
A |
G |
9: 19,250,034 (GRCm39) |
T93A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,617,797 (GRCm39) |
S153P |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,170,767 (GRCm39) |
D633G |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Plrg1 |
C |
A |
3: 82,978,547 (GRCm39) |
Q438K |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,493,972 (GRCm39) |
Y215H |
probably damaging |
Het |
| Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,072,863 (GRCm39) |
Q1161* |
probably null |
Het |
| Snrnp200 |
T |
C |
2: 127,073,697 (GRCm39) |
L1365P |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,338,849 (GRCm39) |
T560A |
possibly damaging |
Het |
| Ttll2 |
T |
C |
17: 7,620,098 (GRCm39) |
|
probably null |
Het |
| Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Zfp82 |
G |
A |
7: 29,755,864 (GRCm39) |
T406I |
probably damaging |
Het |
|
| Other mutations in Cyp4f15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01812:Cyp4f15
|
APN |
17 |
32,905,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01813:Cyp4f15
|
APN |
17 |
32,905,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02394:Cyp4f15
|
APN |
17 |
32,911,609 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02547:Cyp4f15
|
APN |
17 |
32,919,229 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02743:Cyp4f15
|
APN |
17 |
32,918,926 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03120:Cyp4f15
|
APN |
17 |
32,909,738 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03124:Cyp4f15
|
APN |
17 |
32,904,786 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03342:Cyp4f15
|
APN |
17 |
32,916,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4472001:Cyp4f15
|
UTSW |
17 |
32,921,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2016:Cyp4f15
|
UTSW |
17 |
32,921,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3812:Cyp4f15
|
UTSW |
17 |
32,905,151 (GRCm39) |
missense |
probably benign |
|
|
R4803:Cyp4f15
|
UTSW |
17 |
32,911,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5180:Cyp4f15
|
UTSW |
17 |
32,909,714 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5199:Cyp4f15
|
UTSW |
17 |
32,921,346 (GRCm39) |
missense |
probably benign |
|
|
R5787:Cyp4f15
|
UTSW |
17 |
32,921,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6695:Cyp4f15
|
UTSW |
17 |
32,911,586 (GRCm39) |
nonsense |
probably null |
|
|
R8311:Cyp4f15
|
UTSW |
17 |
32,916,914 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8342:Cyp4f15
|
UTSW |
17 |
32,909,733 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8369:Cyp4f15
|
UTSW |
17 |
32,916,939 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8488:Cyp4f15
|
UTSW |
17 |
32,920,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8503:Cyp4f15
|
UTSW |
17 |
32,914,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8778:Cyp4f15
|
UTSW |
17 |
32,921,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9052:Cyp4f15
|
UTSW |
17 |
32,911,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Cyp4f15
|
UTSW |
17 |
32,919,185 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9183:Cyp4f15
|
UTSW |
17 |
32,919,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9311:Cyp4f15
|
UTSW |
17 |
32,905,139 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Cyp4f15
|
UTSW |
17 |
32,911,664 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGTCCATTATGCCTGATGG -3'
(R):5'- GGAAGTGTCCACCAGTGTAAG -3'
Sequencing Primer
(F):5'- CTGATGGCCCCAACCTTC -3'
(R):5'- TGTCCACCAGTGTAAGAAAGATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation