Incidental Mutation 'PIT4472001:Cyp4f15'
| ID |
555889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4f15
|
| Ensembl Gene |
ENSMUSG00000073424 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 15 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.651)
|
| Stock # |
PIT4472001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
32904605-32922329 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32921798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 490
(M490K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129264
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008801]
[ENSMUST00000168171]
|
| AlphaFold |
Q99N18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008801
AA Change: M483K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000008801
Gene: ENSMUSG00000073424
AA Change: M483K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
|
Pfam:p450
|
57 |
520 |
8.4e-137 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168171
AA Change: M490K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129264
Gene: ENSMUSG00000073424
AA Change: M490K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
|
Pfam:p450
|
57 |
527 |
3.2e-133 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.7%
- 3x: 90.8%
- 10x: 84.2%
- 20x: 70.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP4F8, 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 and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 kb away. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
A |
9: 99,502,613 (GRCm39) |
P258T |
probably damaging |
Het |
| Arvcf |
T |
C |
16: 18,221,699 (GRCm39) |
V714A |
possibly damaging |
Het |
| Bcas3 |
A |
G |
11: 85,422,726 (GRCm39) |
I532V |
probably damaging |
Het |
| Cbr1 |
T |
A |
16: 93,406,692 (GRCm39) |
V136E |
probably damaging |
Het |
| Ccdc27 |
T |
C |
4: 154,126,184 (GRCm39) |
M102V |
unknown |
Het |
| Ccr1 |
T |
C |
9: 123,763,765 (GRCm39) |
Y255C |
probably damaging |
Het |
| Cd300e |
T |
A |
11: 114,945,336 (GRCm39) |
I153F |
possibly damaging |
Het |
| Chd7 |
C |
T |
4: 8,753,101 (GRCm39) |
L533F |
unknown |
Het |
| Cpvl |
A |
T |
6: 53,873,464 (GRCm39) |
F424Y |
possibly damaging |
Het |
| Cxcl16 |
C |
T |
11: 70,349,625 (GRCm39) |
G80R |
probably damaging |
Het |
| Cyp2g1 |
T |
C |
7: 26,513,619 (GRCm39) |
V186A |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,155,774 (GRCm39) |
V1160D |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,148,421 (GRCm39) |
D2609G |
possibly damaging |
Het |
| Fgf5 |
T |
A |
5: 98,409,838 (GRCm39) |
V129E |
probably damaging |
Het |
| Fhl5 |
C |
A |
4: 25,211,194 (GRCm39) |
C166F |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,890,374 (GRCm39) |
T1035I |
probably benign |
Het |
| Gcnt2 |
G |
A |
13: 41,071,413 (GRCm39) |
V19M |
probably benign |
Het |
| Gga1 |
C |
A |
15: 78,777,836 (GRCm39) |
A595D |
probably damaging |
Het |
| Gpaa1 |
C |
T |
15: 76,218,940 (GRCm39) |
T594I |
probably benign |
Het |
| Gskip |
C |
T |
12: 105,651,121 (GRCm39) |
|
probably benign |
Het |
| Ighv1-72 |
A |
G |
12: 115,721,620 (GRCm39) |
V112A |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,138,732 (GRCm39) |
T185S |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,071,699 (GRCm39) |
V862A |
|
Het |
| Lats2 |
A |
C |
14: 57,936,814 (GRCm39) |
Y558* |
probably null |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Mnx1 |
T |
C |
5: 29,679,105 (GRCm39) |
E326G |
unknown |
Het |
| Mtmr10 |
A |
G |
7: 63,983,106 (GRCm39) |
E471G |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,855,310 (GRCm39) |
V12M |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,945,273 (GRCm39) |
V2177M |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,894,306 (GRCm39) |
E693G |
unknown |
Het |
| Pclo |
T |
C |
5: 14,763,182 (GRCm39) |
M600T |
possibly damaging |
Het |
| Pdgfra |
T |
A |
5: 75,340,907 (GRCm39) |
M622K |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,663,209 (GRCm39) |
L428P |
probably damaging |
Het |
| Pfkfb4 |
T |
C |
9: 108,828,222 (GRCm39) |
Y86H |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,254,983 (GRCm39) |
Y335H |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,854,477 (GRCm39) |
V150M |
|
Het |
| Pou4f3 |
A |
G |
18: 42,527,717 (GRCm39) |
M4V |
probably benign |
Het |
| Ppp1r13b |
G |
A |
12: 111,799,074 (GRCm39) |
R864C |
probably damaging |
Het |
| R3hdm4 |
A |
G |
10: 79,749,389 (GRCm39) |
|
probably null |
Het |
| Skil |
T |
A |
3: 31,152,381 (GRCm39) |
V301D |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,667,460 (GRCm39) |
T879M |
probably damaging |
Het |
| Strip1 |
G |
A |
3: 107,535,486 (GRCm39) |
A79V |
probably benign |
Het |
| Tpgs2 |
G |
A |
18: 25,301,652 (GRCm39) |
T5M |
possibly damaging |
Het |
| Trim34a |
T |
A |
7: 103,897,155 (GRCm39) |
L73Q |
probably damaging |
Het |
| Trpv4 |
T |
A |
5: 114,764,984 (GRCm39) |
T677S |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,689,936 (GRCm39) |
T271A |
possibly damaging |
Het |
|
| Other mutations in Cyp4f15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01812:Cyp4f15
|
APN |
17 |
32,905,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01813:Cyp4f15
|
APN |
17 |
32,905,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02394:Cyp4f15
|
APN |
17 |
32,911,609 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02547:Cyp4f15
|
APN |
17 |
32,919,229 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02743:Cyp4f15
|
APN |
17 |
32,918,926 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03120:Cyp4f15
|
APN |
17 |
32,909,738 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03124:Cyp4f15
|
APN |
17 |
32,904,786 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03342:Cyp4f15
|
APN |
17 |
32,916,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Cyp4f15
|
UTSW |
17 |
32,921,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2892:Cyp4f15
|
UTSW |
17 |
32,905,182 (GRCm39) |
missense |
probably benign |
|
|
R3812:Cyp4f15
|
UTSW |
17 |
32,905,151 (GRCm39) |
missense |
probably benign |
|
|
R4803:Cyp4f15
|
UTSW |
17 |
32,911,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5180:Cyp4f15
|
UTSW |
17 |
32,909,714 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5199:Cyp4f15
|
UTSW |
17 |
32,921,346 (GRCm39) |
missense |
probably benign |
|
|
R5787:Cyp4f15
|
UTSW |
17 |
32,921,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6695:Cyp4f15
|
UTSW |
17 |
32,911,586 (GRCm39) |
nonsense |
probably null |
|
|
R8311:Cyp4f15
|
UTSW |
17 |
32,916,914 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8342:Cyp4f15
|
UTSW |
17 |
32,909,733 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8369:Cyp4f15
|
UTSW |
17 |
32,916,939 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8488:Cyp4f15
|
UTSW |
17 |
32,920,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8503:Cyp4f15
|
UTSW |
17 |
32,914,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8778:Cyp4f15
|
UTSW |
17 |
32,921,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9052:Cyp4f15
|
UTSW |
17 |
32,911,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Cyp4f15
|
UTSW |
17 |
32,919,185 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9183:Cyp4f15
|
UTSW |
17 |
32,919,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9311:Cyp4f15
|
UTSW |
17 |
32,905,139 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Cyp4f15
|
UTSW |
17 |
32,911,664 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTCCCAAATAAGTTAGTTCCC -3'
(R):5'- TGGTATTCTGCGAGCCTCTG -3'
Sequencing Primer
(F):5'- CAAATAAGTTAGTTCCCCCTGGGTG -3'
(R):5'- CCGTAGAGGTAAGCGGGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation