Incidental Mutation 'N/A:Cyp4f39'
| ID |
35 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4f39
|
| Ensembl Gene |
ENSMUSG00000061126 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
| Synonyms |
4732474A20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.344)
|
| Stock # |
N/A
of strain
294
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32671697-32712294 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 32687655 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Methionine to Leucine
at position 74
(M74L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003413]
|
| AlphaFold |
Q8BGU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003413
AA Change: M74L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: M74L
| 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 |
0.1152 |
| Coding Region Coverage |
|
| Validation Efficiency |
91% (106/116) |
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016P04Rik |
T |
A |
6: 13,415,772 (GRCm39) |
|
noncoding transcript |
Homo |
| Aif1 |
A |
G |
17: 35,391,496 (GRCm39) |
L7S |
possibly damaging |
Homo |
| Ankrd26 |
T |
C |
6: 118,506,535 (GRCm39) |
D646G |
probably benign |
Homo |
| Cacna1s |
A |
G |
1: 136,001,247 (GRCm39) |
I233V |
probably benign |
Homo |
| Cfap92 |
A |
T |
6: 87,667,773 (GRCm39) |
|
noncoding transcript |
Homo |
| Chchd4 |
T |
C |
6: 91,442,187 (GRCm39) |
Y77C |
probably damaging |
Homo |
| Crocc |
G |
A |
4: 140,749,057 (GRCm39) |
R1419C |
probably damaging |
Homo |
| Fgf9 |
C |
A |
14: 58,327,421 (GRCm39) |
|
probably benign |
Homo |
| Gimap6 |
T |
C |
6: 48,679,349 (GRCm39) |
D229G |
probably damaging |
Homo |
| Glp1r |
T |
C |
17: 31,150,257 (GRCm39) |
F393S |
probably damaging |
Homo |
| Lrrc7 |
T |
G |
3: 157,865,977 (GRCm39) |
I1255L |
probably benign |
Homo |
| Mtrr |
C |
A |
13: 68,723,516 (GRCm39) |
|
probably benign |
Homo |
| Pde6b |
A |
T |
5: 108,576,969 (GRCm39) |
|
probably benign |
Homo |
| Rbm19 |
A |
T |
5: 120,282,162 (GRCm39) |
I840F |
probably damaging |
Homo |
| Serpina3c |
A |
C |
12: 104,115,864 (GRCm39) |
S227A |
probably benign |
Homo |
| Spag17 |
G |
A |
3: 99,889,570 (GRCm39) |
|
probably benign |
Homo |
| Spmip3 |
G |
A |
1: 177,561,100 (GRCm39) |
R13H |
probably damaging |
Homo |
| Zbtb8b |
T |
C |
4: 129,326,361 (GRCm39) |
D268G |
probably benign |
Homo |
|
| 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 |
|
|
R0145:Cyp4f39
|
UTSW |
17 |
32,705,934 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0288:Cyp4f39
|
UTSW |
17 |
32,711,410 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified an A to C transversion at position 398 of the Cyp4f39 transcript, in exon 3 of 14 total exons. Multiple isoforms of Cyp4f39 are displayed on Ensembl. The mutated nucleotide causes a methionine to leucine substitution at amino acid 74. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Cyp4f39 gene encodes a 532 amino acid protein that is a Cytochrome P450, subfamily E, group I enzyme. Cytochrome P450 enzymes are a superfamily of heme-containing mono-oxygenases with diverse substrates and functions (InterPro IPR002401). Analysis of the protein sequence by the SMART program predicted a signal peptide at amino acids 1-42.
The M74L mutation is predicted to be benign by the PolyPhen program. |
| Posted On |
2009-11-09 |
Incidental Mutation