Incidental Mutation 'R3150:Cyp4f18'
| ID |
271630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4f18
|
| Ensembl Gene |
ENSMUSG00000003484 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 18 |
| Synonyms |
1810054N16Rik |
| MMRRC Submission |
040602-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3150 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72742326-72763470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72747044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 317
(D317G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003574]
|
| AlphaFold |
Q99N16 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003574
AA Change: D317G
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000003574
Gene: ENSMUSG00000003484
AA Change: D317G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:p450
|
52 |
516 |
2.7e-132 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136878
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141975
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 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 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. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered leukotriene B4 metabolism but show no significant alterations in inflammatory cell infiltration or injury following renal ischemia-reperfusion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
A |
T |
4: 63,313,590 (GRCm39) |
S178T |
possibly damaging |
Het |
| Cabin1 |
A |
G |
10: 75,492,745 (GRCm39) |
L1850P |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,200,709 (GRCm39) |
A416E |
possibly damaging |
Het |
| Ces1g |
C |
T |
8: 94,052,444 (GRCm39) |
V282I |
probably benign |
Het |
| Col4a3 |
T |
G |
1: 82,634,858 (GRCm39) |
|
probably null |
Het |
| Crat |
C |
T |
2: 30,303,871 (GRCm39) |
|
probably null |
Het |
| Csf2ra |
C |
A |
19: 61,215,758 (GRCm39) |
A16S |
possibly damaging |
Het |
| Cspg4b |
A |
T |
13: 113,488,294 (GRCm39) |
Q105H |
probably damaging |
Het |
| Ddb1 |
T |
A |
19: 10,590,346 (GRCm39) |
M291K |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,853,620 (GRCm39) |
T1528N |
probably benign |
Het |
| Gfod2 |
C |
T |
8: 106,443,853 (GRCm39) |
G230D |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,868,410 (GRCm39) |
S257P |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Hnrnph1 |
T |
A |
11: 50,276,619 (GRCm39) |
V439E |
probably benign |
Het |
| Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,202,336 (GRCm39) |
T189M |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,029,653 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nmral1 |
G |
A |
16: 4,534,333 (GRCm39) |
T36I |
probably damaging |
Het |
| Or4c1 |
C |
T |
2: 89,133,562 (GRCm39) |
V125M |
possibly damaging |
Het |
| Or5b119 |
A |
G |
19: 13,456,824 (GRCm39) |
V246A |
probably damaging |
Het |
| Or7e169 |
A |
G |
9: 19,757,510 (GRCm39) |
I135T |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,798,765 (GRCm39) |
R2691L |
probably benign |
Het |
| Ppp2r2a |
G |
A |
14: 67,261,214 (GRCm39) |
R169W |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,334,488 (GRCm39) |
|
probably null |
Het |
| Robo1 |
C |
T |
16: 72,767,157 (GRCm39) |
P443L |
possibly damaging |
Het |
| Rtn4 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
11: 29,643,308 (GRCm39) |
|
probably benign |
Het |
| Shprh |
A |
G |
10: 11,045,774 (GRCm39) |
H865R |
probably damaging |
Het |
| Spats1 |
A |
T |
17: 45,775,480 (GRCm39) |
S15T |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,220,327 (GRCm39) |
T216A |
probably benign |
Het |
| Sry |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
Y: 2,662,944 (GRCm39) |
|
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,333,022 (GRCm39) |
A902V |
probably damaging |
Het |
| Usp22 |
T |
C |
11: 61,051,407 (GRCm39) |
Q312R |
probably damaging |
Het |
| Vmn2r32 |
T |
C |
7: 7,475,554 (GRCm39) |
Y443C |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,813,360 (GRCm39) |
D3274E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,971,095 (GRCm39) |
N167K |
possibly damaging |
Het |
| Xpo5 |
A |
G |
17: 46,553,173 (GRCm39) |
|
probably null |
Het |
| Zswim7 |
A |
T |
11: 62,164,611 (GRCm39) |
I43N |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
possibly damaging |
Het |
|
| Other mutations in Cyp4f18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Cyp4f18
|
APN |
8 |
72,743,771 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01465:Cyp4f18
|
APN |
8 |
72,756,288 (GRCm39) |
missense |
probably benign |
|
|
IGL01863:Cyp4f18
|
APN |
8 |
72,743,770 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02403:Cyp4f18
|
APN |
8 |
72,752,072 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03244:Cyp4f18
|
APN |
8 |
72,742,489 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0226:Cyp4f18
|
UTSW |
8 |
72,743,619 (GRCm39) |
splice site |
probably benign |
|
|
R0310:Cyp4f18
|
UTSW |
8 |
72,754,856 (GRCm39) |
splice site |
probably benign |
|
|
R0486:Cyp4f18
|
UTSW |
8 |
72,749,861 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0506:Cyp4f18
|
UTSW |
8 |
72,749,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0547:Cyp4f18
|
UTSW |
8 |
72,749,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0689:Cyp4f18
|
UTSW |
8 |
72,749,812 (GRCm39) |
missense |
probably benign |
|
|
R0721:Cyp4f18
|
UTSW |
8 |
72,754,979 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1534:Cyp4f18
|
UTSW |
8 |
72,746,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2087:Cyp4f18
|
UTSW |
8 |
72,754,832 (GRCm39) |
missense |
probably benign |
|
|
R2902:Cyp4f18
|
UTSW |
8 |
72,756,255 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3149:Cyp4f18
|
UTSW |
8 |
72,747,044 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3177:Cyp4f18
|
UTSW |
8 |
72,747,044 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3277:Cyp4f18
|
UTSW |
8 |
72,747,044 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3906:Cyp4f18
|
UTSW |
8 |
72,754,926 (GRCm39) |
splice site |
probably benign |
|
|
R3916:Cyp4f18
|
UTSW |
8 |
72,749,881 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3953:Cyp4f18
|
UTSW |
8 |
72,754,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4815:Cyp4f18
|
UTSW |
8 |
72,749,839 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4915:Cyp4f18
|
UTSW |
8 |
72,762,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Cyp4f18
|
UTSW |
8 |
72,756,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5113:Cyp4f18
|
UTSW |
8 |
72,742,902 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5202:Cyp4f18
|
UTSW |
8 |
72,762,940 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5761:Cyp4f18
|
UTSW |
8 |
72,749,975 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6187:Cyp4f18
|
UTSW |
8 |
72,747,030 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6664:Cyp4f18
|
UTSW |
8 |
72,743,759 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6944:Cyp4f18
|
UTSW |
8 |
72,743,738 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6978:Cyp4f18
|
UTSW |
8 |
72,756,340 (GRCm39) |
missense |
probably benign |
|
|
R7288:Cyp4f18
|
UTSW |
8 |
72,747,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Cyp4f18
|
UTSW |
8 |
72,742,498 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7432:Cyp4f18
|
UTSW |
8 |
72,749,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7871:Cyp4f18
|
UTSW |
8 |
72,742,487 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8063:Cyp4f18
|
UTSW |
8 |
72,752,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Cyp4f18
|
UTSW |
8 |
72,742,935 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8321:Cyp4f18
|
UTSW |
8 |
72,742,427 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9296:Cyp4f18
|
UTSW |
8 |
72,756,301 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1177:Cyp4f18
|
UTSW |
8 |
72,752,127 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGTCATGGCCTGAAAGG -3'
(R):5'- GACTCTGGTAAAGTACACAGGTG -3'
Sequencing Primer
(F):5'- GGGTCTCTAGGCTGCTTCAG -3'
(R):5'- TAAAGTACACAGGTGCAGGTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation