Incidental Mutation 'R3417:Cyp4f39'
| ID |
266870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4f39
|
| Ensembl Gene |
ENSMUSG00000061126 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
| Synonyms |
4732474A20Rik |
| MMRRC Submission |
040635-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.340)
|
| Stock # |
R3417 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32671697-32712294 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32708716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 421
(V421A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003413]
|
| AlphaFold |
Q8BGU0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003413
AA Change: V421A
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: V421A
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (54/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,224,302 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,564,965 (GRCm39) |
Y201C |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,698,135 (GRCm39) |
|
probably null |
Het |
| Ankrd17 |
G |
A |
5: 90,391,772 (GRCm39) |
T1857I |
possibly damaging |
Het |
| Atp6v0d2 |
A |
G |
4: 19,888,829 (GRCm39) |
|
probably benign |
Het |
| Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
| Cfc1 |
A |
T |
1: 34,575,457 (GRCm39) |
R44* |
probably null |
Het |
| Col6a1 |
C |
T |
10: 76,548,203 (GRCm39) |
V618M |
unknown |
Het |
| Crmp1 |
A |
T |
5: 37,426,031 (GRCm39) |
I159L |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
| Ero1a |
T |
C |
14: 45,525,323 (GRCm39) |
T401A |
possibly damaging |
Het |
| Exoc6b |
C |
G |
6: 84,867,547 (GRCm39) |
L288F |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,816,854 (GRCm39) |
V4196I |
possibly damaging |
Het |
| Icosl |
A |
T |
10: 77,907,869 (GRCm39) |
N143I |
possibly damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Irag1 |
T |
C |
7: 110,476,161 (GRCm39) |
T597A |
possibly damaging |
Het |
| Jrk |
A |
G |
15: 74,578,734 (GRCm39) |
Y184H |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,515,715 (GRCm39) |
L113P |
probably damaging |
Het |
| Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,678 (GRCm39) |
F365L |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
| Map4k5 |
A |
T |
12: 69,856,038 (GRCm39) |
V716E |
probably damaging |
Het |
| Mcm9 |
T |
C |
10: 53,413,503 (GRCm39) |
T1264A |
possibly damaging |
Het |
| Mia3 |
T |
A |
1: 183,143,444 (GRCm39) |
D100V |
probably damaging |
Het |
| Mrgprb2 |
C |
A |
7: 48,202,281 (GRCm39) |
R148L |
probably damaging |
Het |
| Mterf1a |
A |
G |
5: 3,940,795 (GRCm39) |
S358P |
probably damaging |
Het |
| Myd88 |
T |
C |
9: 119,166,556 (GRCm39) |
I253V |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nqo2 |
G |
T |
13: 34,163,616 (GRCm39) |
V92L |
probably benign |
Het |
| Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
| Pcdhb15 |
A |
T |
18: 37,608,216 (GRCm39) |
N483Y |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,795,235 (GRCm39) |
F667S |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,929,828 (GRCm39) |
A228E |
probably damaging |
Het |
| Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
| Rtl4 |
C |
T |
X: 143,902,901 (GRCm39) |
Q108* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,869,549 (GRCm39) |
|
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc44a1 |
G |
A |
4: 53,553,549 (GRCm39) |
V519I |
probably benign |
Het |
| Smg1 |
G |
C |
7: 117,748,076 (GRCm39) |
|
probably benign |
Het |
| Sptlc2 |
A |
G |
12: 87,393,582 (GRCm39) |
|
probably benign |
Het |
| St13 |
A |
T |
15: 81,253,651 (GRCm39) |
|
probably benign |
Het |
| Strbp |
C |
G |
2: 37,480,737 (GRCm39) |
R610T |
possibly damaging |
Het |
| Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
| Tex55 |
A |
C |
16: 38,649,102 (GRCm39) |
D2E |
probably benign |
Het |
| Tgm3 |
G |
A |
2: 129,889,692 (GRCm39) |
V629M |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,722,612 (GRCm39) |
V1019A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,615,908 (GRCm39) |
C14932* |
probably null |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
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 |
|
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 |
|
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'- GTGATTGGTGGATGGACAGATA -3'
(R):5'- CTGTGCATATCTAGGTTTCCCTC -3'
Sequencing Primer
(F):5'- CCAATTGGACTGTCACTGAGC -3'
(R):5'- TCAGAAGTGAGTGTCAGATTCCC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation