Incidental Mutation 'R4683:Cyp4f14'
| ID |
350139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4f14
|
| Ensembl Gene |
ENSMUSG00000024292 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 14 |
| Synonyms |
1300014O15Rik, leukotriene B4 omega hydroxylase |
| MMRRC Submission |
041935-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4683 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
33124044-33136316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33126985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 315
(D315G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054174]
[ENSMUST00000179434]
|
| AlphaFold |
Q9EP75 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054174
AA Change: D315G
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000050478
Gene: ENSMUSG00000024292
AA Change: D315G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
52 |
515 |
2.7e-136 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179434
AA Change: D315G
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136139
Gene: ENSMUSG00000024292
AA Change: D315G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
52 |
515 |
2.7e-136 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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 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 likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid. It can also catalyze the epoxidation of 22:6n-3 and 22:5n-3 polyunsaturated long-chain fatty acids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced vitamin E-omega-hydroxylase activity and altered levels of tocopherols and their metabolites. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr3 |
T |
C |
1: 90,141,709 (GRCm39) |
V56A |
probably damaging |
Het |
| Acyp1 |
A |
G |
12: 85,325,717 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
T |
15: 74,459,963 (GRCm39) |
K532I |
probably damaging |
Het |
| Ahrr |
T |
A |
13: 74,372,885 (GRCm39) |
|
silent |
Het |
| Asz1 |
T |
C |
6: 18,055,541 (GRCm39) |
|
probably benign |
Het |
| AW554918 |
T |
C |
18: 25,472,852 (GRCm39) |
Y219H |
probably benign |
Het |
| Ccno |
C |
A |
13: 113,125,543 (GRCm39) |
|
probably null |
Het |
| Cdh17 |
A |
T |
4: 11,817,036 (GRCm39) |
N816Y |
possibly damaging |
Het |
| Clca4a |
C |
T |
3: 144,660,701 (GRCm39) |
V708I |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,701,179 (GRCm39) |
Y2579F |
unknown |
Het |
| Col6a4 |
A |
G |
9: 105,957,329 (GRCm39) |
V165A |
probably benign |
Het |
| Csf1r |
T |
A |
18: 61,257,983 (GRCm39) |
C651S |
probably damaging |
Het |
| Def6 |
A |
G |
17: 28,436,609 (GRCm39) |
D91G |
probably damaging |
Het |
| Dmxl1 |
T |
G |
18: 50,011,088 (GRCm39) |
S1082A |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,349,768 (GRCm39) |
Y2392N |
probably damaging |
Het |
| Dsg4 |
T |
C |
18: 20,594,466 (GRCm39) |
S532P |
probably benign |
Het |
| Efr3a |
C |
A |
15: 65,691,650 (GRCm39) |
S126R |
probably damaging |
Het |
| Gab1 |
A |
C |
8: 81,515,261 (GRCm39) |
H352Q |
probably benign |
Het |
| Gm1110 |
A |
G |
9: 26,831,890 (GRCm39) |
M87T |
probably damaging |
Het |
| Greb1 |
C |
T |
12: 16,761,774 (GRCm39) |
M535I |
possibly damaging |
Het |
| Greb1l |
T |
A |
18: 10,529,563 (GRCm39) |
|
probably null |
Het |
| Gucy2d |
T |
C |
7: 98,102,650 (GRCm39) |
C487R |
probably benign |
Het |
| H1f7 |
A |
T |
15: 98,154,921 (GRCm39) |
I76N |
probably damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,614 (GRCm39) |
H122L |
possibly damaging |
Het |
| Mrps22 |
A |
T |
9: 98,480,359 (GRCm39) |
|
probably null |
Het |
| Mxd3 |
T |
C |
13: 55,473,613 (GRCm39) |
T202A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,134,074 (GRCm39) |
H3303R |
possibly damaging |
Het |
| Nup133 |
G |
A |
8: 124,657,721 (GRCm39) |
R405* |
probably null |
Het |
| Or13a19 |
T |
C |
7: 139,902,681 (GRCm39) |
L23P |
probably benign |
Het |
| Or14j6 |
A |
G |
17: 38,215,039 (GRCm39) |
T201A |
probably benign |
Het |
| Pard3b |
T |
C |
1: 62,255,675 (GRCm39) |
Y629H |
probably benign |
Het |
| Pcnx1 |
A |
G |
12: 82,033,446 (GRCm39) |
D1781G |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,450,405 (GRCm39) |
C1148S |
probably damaging |
Het |
| Pcsk9 |
A |
T |
4: 106,316,092 (GRCm39) |
I117N |
possibly damaging |
Het |
| Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
| Pfkfb2 |
T |
A |
1: 130,634,221 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
T |
C |
16: 17,114,901 (GRCm39) |
E1456G |
possibly damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Sh2b2 |
C |
T |
5: 136,260,574 (GRCm39) |
C214Y |
probably damaging |
Het |
| Slc52a2 |
C |
A |
15: 76,424,433 (GRCm39) |
P224T |
probably damaging |
Het |
| Slf2 |
C |
G |
19: 44,923,920 (GRCm39) |
R245G |
probably benign |
Het |
| Sox5 |
T |
C |
6: 143,779,193 (GRCm39) |
S648G |
probably damaging |
Het |
| Stk36 |
T |
A |
1: 74,673,344 (GRCm39) |
I1079N |
probably benign |
Het |
| Stxbp3 |
T |
C |
3: 108,708,188 (GRCm39) |
D371G |
probably damaging |
Het |
| Trnau1ap |
A |
T |
4: 132,049,063 (GRCm39) |
Y47N |
probably damaging |
Het |
| Ubr5 |
C |
T |
15: 38,038,211 (GRCm39) |
R316H |
probably damaging |
Het |
| Vmn1r230 |
C |
T |
17: 21,067,515 (GRCm39) |
R235C |
probably benign |
Het |
| Wnt10a |
C |
T |
1: 74,842,296 (GRCm39) |
H93Y |
unknown |
Het |
| Zfp1005 |
T |
A |
2: 150,108,390 (GRCm39) |
H50Q |
possibly damaging |
Het |
| Zfp52 |
A |
G |
17: 21,781,769 (GRCm39) |
D539G |
probably benign |
Het |
|
| Other mutations in Cyp4f14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Cyp4f14
|
APN |
17 |
33,133,540 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00858:Cyp4f14
|
APN |
17 |
33,130,692 (GRCm39) |
splice site |
probably benign |
|
|
IGL01673:Cyp4f14
|
APN |
17 |
33,130,125 (GRCm39) |
splice site |
probably null |
|
|
IGL01716:Cyp4f14
|
APN |
17 |
33,124,470 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01768:Cyp4f14
|
APN |
17 |
33,126,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02314:Cyp4f14
|
APN |
17 |
33,125,265 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02697:Cyp4f14
|
APN |
17 |
33,124,597 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03035:Cyp4f14
|
APN |
17 |
33,133,608 (GRCm39) |
missense |
probably benign |
0.15 |
|
dust
|
UTSW |
17 |
33,135,853 (GRCm39) |
nonsense |
probably null |
|
|
powder
|
UTSW |
17 |
33,124,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4434001:Cyp4f14
|
UTSW |
17 |
33,125,104 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1186:Cyp4f14
|
UTSW |
17 |
33,135,760 (GRCm39) |
missense |
probably benign |
|
|
R1230:Cyp4f14
|
UTSW |
17 |
33,135,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1671:Cyp4f14
|
UTSW |
17 |
33,135,883 (GRCm39) |
intron |
probably benign |
|
|
R1672:Cyp4f14
|
UTSW |
17 |
33,128,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1696:Cyp4f14
|
UTSW |
17 |
33,128,145 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1828:Cyp4f14
|
UTSW |
17 |
33,130,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1934:Cyp4f14
|
UTSW |
17 |
33,125,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2023:Cyp4f14
|
UTSW |
17 |
33,125,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3013:Cyp4f14
|
UTSW |
17 |
33,128,139 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3783:Cyp4f14
|
UTSW |
17 |
33,135,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4013:Cyp4f14
|
UTSW |
17 |
33,135,853 (GRCm39) |
nonsense |
probably null |
|
|
R4369:Cyp4f14
|
UTSW |
17 |
33,128,232 (GRCm39) |
missense |
probably benign |
|
|
R4371:Cyp4f14
|
UTSW |
17 |
33,128,232 (GRCm39) |
missense |
probably benign |
|
|
R5282:Cyp4f14
|
UTSW |
17 |
33,126,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5332:Cyp4f14
|
UTSW |
17 |
33,125,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5810:Cyp4f14
|
UTSW |
17 |
33,125,072 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6244:Cyp4f14
|
UTSW |
17 |
33,125,291 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6622:Cyp4f14
|
UTSW |
17 |
33,133,619 (GRCm39) |
missense |
probably benign |
|
|
R6972:Cyp4f14
|
UTSW |
17 |
33,124,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6975:Cyp4f14
|
UTSW |
17 |
33,133,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7124:Cyp4f14
|
UTSW |
17 |
33,133,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7436:Cyp4f14
|
UTSW |
17 |
33,128,131 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7849:Cyp4f14
|
UTSW |
17 |
33,128,325 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8223:Cyp4f14
|
UTSW |
17 |
33,130,627 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9397:Cyp4f14
|
UTSW |
17 |
33,130,516 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCCCAGGTAGTGAAATCC -3'
(R):5'- ACAACTGCAGGTGACACAGG -3'
Sequencing Primer
(F):5'- CCCAGGTAGTGAAATCCGGAAAAG -3'
(R):5'- CAGTAAATTCAGACTGTACCAGTAGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation