Incidental Mutation 'R8063:Cyp4f18'
| ID |
619851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4f18
|
| Ensembl Gene |
ENSMUSG00000003484 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 18 |
| Synonyms |
1810054N16Rik |
| MMRRC Submission |
067499-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8063 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72742326-72763470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72752075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 197
(L197P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003574]
|
| AlphaFold |
Q99N16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003574
AA Change: L197P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003574
Gene: ENSMUSG00000003484
AA Change: L197P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (53/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
A |
11: 105,862,190 (GRCm39) |
I248N |
possibly damaging |
Het |
| Agk |
T |
A |
6: 40,306,490 (GRCm39) |
C20S |
possibly damaging |
Het |
| Alpk2 |
G |
A |
18: 65,483,417 (GRCm39) |
S197L |
probably benign |
Het |
| Armc10 |
T |
C |
5: 21,853,768 (GRCm39) |
|
probably null |
Het |
| Asxl2 |
A |
G |
12: 3,550,768 (GRCm39) |
T837A |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,603,545 (GRCm39) |
E50G |
probably damaging |
Het |
| Bend5 |
G |
T |
4: 111,317,031 (GRCm39) |
C398F |
probably damaging |
Het |
| Bicra |
A |
G |
7: 15,712,969 (GRCm39) |
V1026A |
probably benign |
Het |
| Canx |
A |
T |
11: 50,199,173 (GRCm39) |
Y165* |
probably null |
Het |
| Casp14 |
A |
G |
10: 78,549,865 (GRCm39) |
F210L |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,178,175 (GRCm39) |
D458E |
probably benign |
Het |
| Cisd3 |
T |
C |
11: 97,576,710 (GRCm39) |
V12A |
probably benign |
Het |
| Cnot4 |
A |
T |
6: 35,045,578 (GRCm39) |
M211K |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,230,729 (GRCm39) |
I209N |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Edem2 |
A |
T |
2: 155,544,376 (GRCm39) |
M458K |
probably benign |
Het |
| Eif2ak4 |
G |
A |
2: 118,241,382 (GRCm39) |
E178K |
possibly damaging |
Het |
| Fars2 |
G |
A |
13: 36,388,880 (GRCm39) |
W123* |
probably null |
Het |
| Ighv1-20 |
T |
C |
12: 114,687,405 (GRCm39) |
Y113C |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,526,198 (GRCm39) |
I248N |
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,081,819 (GRCm39) |
|
probably benign |
Het |
| Kcnh2 |
T |
C |
5: 24,526,670 (GRCm39) |
E1042G |
probably benign |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Lasp1 |
T |
C |
11: 97,724,957 (GRCm39) |
Y188H |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,433,087 (GRCm39) |
T3361A |
unknown |
Het |
| Lrrc52 |
A |
G |
1: 167,294,090 (GRCm39) |
I65T |
probably damaging |
Het |
| Megf9 |
A |
G |
4: 70,406,495 (GRCm39) |
C224R |
probably damaging |
Het |
| Ms4a10 |
T |
C |
19: 10,942,136 (GRCm39) |
T162A |
probably benign |
Het |
| Mstn |
T |
A |
1: 53,105,607 (GRCm39) |
F316L |
probably benign |
Het |
| Ndufs8 |
T |
C |
19: 3,961,019 (GRCm39) |
Y86C |
probably damaging |
Het |
| Or10d4b |
A |
T |
9: 39,534,823 (GRCm39) |
I133F |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,764,126 (GRCm39) |
D462N |
possibly damaging |
Het |
| Rad51d |
A |
G |
11: 82,780,597 (GRCm39) |
S62P |
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,285,775 (GRCm39) |
Y388H |
probably damaging |
Het |
| Rdm1 |
C |
A |
11: 101,521,694 (GRCm39) |
Q150K |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Sctr |
T |
C |
1: 119,991,005 (GRCm39) |
V446A |
probably benign |
Het |
| Sin3b |
G |
A |
8: 73,452,169 (GRCm39) |
D71N |
probably damaging |
Het |
| Sirt5 |
A |
T |
13: 43,524,323 (GRCm39) |
T32S |
probably benign |
Het |
| Slc17a1 |
T |
C |
13: 24,059,524 (GRCm39) |
V85A |
probably benign |
Het |
| Snx1 |
C |
T |
9: 66,004,676 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
T |
A |
19: 50,132,415 (GRCm39) |
D1181V |
unknown |
Het |
| Tcof1 |
A |
G |
18: 60,971,834 (GRCm39) |
S158P |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,379,723 (GRCm39) |
D815G |
probably damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,516,098 (GRCm39) |
I290N |
probably damaging |
Het |
| Uba6 |
A |
T |
5: 86,300,544 (GRCm39) |
N225K |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,238,524 (GRCm39) |
T11A |
probably benign |
Het |
| Vmn1r5 |
T |
G |
6: 56,962,583 (GRCm39) |
M86R |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,001,914 (GRCm39) |
H66Q |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,841,327 (GRCm39) |
E2647G |
|
Het |
| Wdr5b |
T |
A |
16: 35,862,158 (GRCm39) |
D92E |
possibly damaging |
Het |
| Zfp960 |
C |
A |
17: 17,308,623 (GRCm39) |
R446S |
probably benign |
Het |
| Zscan20 |
C |
T |
4: 128,480,028 (GRCm39) |
S821N |
probably benign |
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 |
|
R3150: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 |
|
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'- CTCCAGGGTCCTTGAATGCTAG -3'
(R):5'- TCTAGAGATGGTGGAGCACTGG -3'
Sequencing Primer
(F):5'- TGAATGCTAGTTCTGAGCCAC -3'
(R):5'- CTATGCTGGTTTGGCACACAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation