Incidental Mutation 'R0288:Cyp4f39'
| ID |
24753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4f39
|
| Ensembl Gene |
ENSMUSG00000061126 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
| Synonyms |
4732474A20Rik |
| MMRRC Submission |
038507-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.340)
|
| Stock # |
R0288 (G1)
|
| Quality Score |
178 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32671697-32712294 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32711410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 519
(N519S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003413]
|
| AlphaFold |
Q8BGU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003413
AA Change: N519S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: N519S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
18 |
40 |
N/A |
INTRINSIC |
|
Pfam:p450
|
60 |
525 |
5.8e-124 |
PFAM |
|
| Meta Mutation Damage Score |
0.0854 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.7%
|
| Validation Efficiency |
98% (62/63) |
| 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 gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
A |
G |
8: 95,766,568 (GRCm39) |
E413G |
possibly damaging |
Het |
| Amigo2 |
G |
T |
15: 97,143,560 (GRCm39) |
N287K |
probably damaging |
Het |
| Ankle2 |
T |
A |
5: 110,384,256 (GRCm39) |
I260K |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,040,779 (GRCm39) |
R635* |
probably null |
Het |
| Camkv |
A |
G |
9: 107,823,555 (GRCm39) |
Y153C |
probably damaging |
Het |
| Capn9 |
A |
G |
8: 125,327,230 (GRCm39) |
|
probably benign |
Het |
| Ces2c |
A |
G |
8: 105,576,376 (GRCm39) |
I130V |
probably benign |
Het |
| Cfap44 |
T |
A |
16: 44,236,257 (GRCm39) |
|
probably benign |
Het |
| Cfhr3 |
A |
G |
1: 139,525,425 (GRCm39) |
|
noncoding transcript |
Het |
| Chmp1a |
G |
T |
8: 123,934,745 (GRCm39) |
D70E |
probably damaging |
Het |
| Coil |
G |
A |
11: 88,872,694 (GRCm39) |
G352R |
probably damaging |
Het |
| Colq |
T |
C |
14: 31,265,949 (GRCm39) |
E188G |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,144,799 (GRCm39) |
F685S |
possibly damaging |
Het |
| Dennd1c |
A |
T |
17: 57,383,870 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
T |
11: 65,915,960 (GRCm39) |
|
probably null |
Het |
| Dnmbp |
T |
C |
19: 43,890,898 (GRCm39) |
T290A |
possibly damaging |
Het |
| Dsc2 |
T |
C |
18: 20,166,177 (GRCm39) |
D818G |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,268,967 (GRCm39) |
V557I |
probably benign |
Het |
| Hdac4 |
A |
T |
1: 91,898,728 (GRCm39) |
H675Q |
probably damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,745,764 (GRCm39) |
M35T |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,283,795 (GRCm39) |
I1290N |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,698,620 (GRCm39) |
R398W |
probably damaging |
Het |
| Marveld1 |
T |
C |
19: 42,136,265 (GRCm39) |
F60L |
probably damaging |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Ndst3 |
A |
T |
3: 123,465,843 (GRCm39) |
V43D |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,399,794 (GRCm39) |
D306G |
probably damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,331,544 (GRCm39) |
V284A |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,451 (GRCm39) |
V561A |
probably damaging |
Het |
| Pdcl2 |
T |
C |
5: 76,460,344 (GRCm39) |
I177V |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,373,131 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
A |
C |
15: 79,171,106 (GRCm39) |
|
probably benign |
Het |
| Plekhj1 |
A |
T |
10: 80,632,444 (GRCm39) |
I122N |
probably damaging |
Het |
| Pmel |
T |
C |
10: 128,550,175 (GRCm39) |
I70T |
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,383,196 (GRCm39) |
D273G |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,816,021 (GRCm39) |
I1098V |
probably benign |
Het |
| Rif1 |
T |
C |
2: 52,000,025 (GRCm39) |
S1160P |
probably damaging |
Het |
| Rsbn1l |
T |
C |
5: 21,125,038 (GRCm39) |
I255V |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 137,994,914 (GRCm39) |
|
probably benign |
Het |
| Slc29a1 |
G |
A |
17: 45,900,730 (GRCm39) |
R111W |
probably damaging |
Het |
| Slc36a1 |
G |
A |
11: 55,109,913 (GRCm39) |
A74T |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,600,046 (GRCm39) |
Y122* |
probably null |
Het |
| Slc6a3 |
G |
T |
13: 73,709,047 (GRCm39) |
G324W |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,486,633 (GRCm39) |
S433P |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,070,745 (GRCm39) |
S2190P |
probably damaging |
Het |
| Sry |
A |
T |
Y: 2,662,818 (GRCm39) |
F281I |
unknown |
Het |
| Stk32a |
T |
A |
18: 43,438,060 (GRCm39) |
|
probably null |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
G |
A |
17: 24,920,781 (GRCm39) |
H612Y |
probably damaging |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
G |
11: 98,907,249 (GRCm39) |
|
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,333,606 (GRCm39) |
|
probably benign |
Het |
| Vldlr |
G |
A |
19: 27,218,051 (GRCm39) |
|
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,020 (GRCm39) |
L409P |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,834,648 (GRCm39) |
V1659A |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zfp280d |
A |
T |
9: 72,238,621 (GRCm39) |
K646* |
probably null |
Het |
| Zfp36 |
A |
G |
7: 28,077,666 (GRCm39) |
S81P |
probably benign |
Het |
| Zfp618 |
A |
T |
4: 63,051,171 (GRCm39) |
T651S |
possibly damaging |
Het |
|
| Other mutations in Cyp4f39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00789:Cyp4f39
|
APN |
17 |
32,689,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00822:Cyp4f39
|
APN |
17 |
32,689,806 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00857:Cyp4f39
|
APN |
17 |
32,708,631 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01380:Cyp4f39
|
APN |
17 |
32,700,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01532:Cyp4f39
|
APN |
17 |
32,689,928 (GRCm39) |
splice site |
probably benign |
|
|
IGL01756:Cyp4f39
|
APN |
17 |
32,702,415 (GRCm39) |
nonsense |
probably null |
|
|
IGL02090:Cyp4f39
|
APN |
17 |
32,689,932 (GRCm39) |
splice site |
probably benign |
|
|
IGL02477:Cyp4f39
|
APN |
17 |
32,708,619 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02824:Cyp4f39
|
APN |
17 |
32,687,659 (GRCm39) |
critical splice donor site |
probably null |
|
|
N/A:Cyp4f39
|
UTSW |
17 |
32,687,655 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0145:Cyp4f39
|
UTSW |
17 |
32,705,934 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1676:Cyp4f39
|
UTSW |
17 |
32,701,176 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1677:Cyp4f39
|
UTSW |
17 |
32,711,304 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1874:Cyp4f39
|
UTSW |
17 |
32,702,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Cyp4f39
|
UTSW |
17 |
32,702,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2049:Cyp4f39
|
UTSW |
17 |
32,701,112 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2139:Cyp4f39
|
UTSW |
17 |
32,710,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2212:Cyp4f39
|
UTSW |
17 |
32,706,037 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3416:Cyp4f39
|
UTSW |
17 |
32,708,716 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3417:Cyp4f39
|
UTSW |
17 |
32,708,716 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4486:Cyp4f39
|
UTSW |
17 |
32,702,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Cyp4f39
|
UTSW |
17 |
32,700,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5523:Cyp4f39
|
UTSW |
17 |
32,689,807 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5714:Cyp4f39
|
UTSW |
17 |
32,700,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6010:Cyp4f39
|
UTSW |
17 |
32,701,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6312:Cyp4f39
|
UTSW |
17 |
32,702,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6477:Cyp4f39
|
UTSW |
17 |
32,700,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6950:Cyp4f39
|
UTSW |
17 |
32,711,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7228:Cyp4f39
|
UTSW |
17 |
32,710,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Cyp4f39
|
UTSW |
17 |
32,708,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7341:Cyp4f39
|
UTSW |
17 |
32,705,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7345:Cyp4f39
|
UTSW |
17 |
32,705,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Cyp4f39
|
UTSW |
17 |
32,700,789 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7522:Cyp4f39
|
UTSW |
17 |
32,705,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Cyp4f39
|
UTSW |
17 |
32,702,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8223:Cyp4f39
|
UTSW |
17 |
32,689,839 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8315:Cyp4f39
|
UTSW |
17 |
32,701,176 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8469:Cyp4f39
|
UTSW |
17 |
32,711,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8789:Cyp4f39
|
UTSW |
17 |
32,710,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Cyp4f39
|
UTSW |
17 |
32,702,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9049:Cyp4f39
|
UTSW |
17 |
32,705,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9115:Cyp4f39
|
UTSW |
17 |
32,711,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9402:Cyp4f39
|
UTSW |
17 |
32,710,183 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9571:Cyp4f39
|
UTSW |
17 |
32,702,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9600:Cyp4f39
|
UTSW |
17 |
32,705,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9641:Cyp4f39
|
UTSW |
17 |
32,705,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGAATCAGACTGCAATTCCGTCC -3'
(R):5'- GAGCGTAGTCAACGCCCTCAATATC -3'
Sequencing Primer
(F):5'- ttctacagaggaaggaactgaag -3'
(R):5'- CCTCAATATCTTGGGGGCG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation