Incidental Mutation 'R9067:Cyp4f13'
| ID |
689335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4f13
|
| Ensembl Gene |
ENSMUSG00000024055 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 13 |
| Synonyms |
0610030I10Rik, leukotriene B4 omega hydroxylase, P450 CYP4F13 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R9067 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
33143662-33166376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 33143801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 508
(E508Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075253]
[ENSMUST00000137222]
[ENSMUST00000139353]
|
| AlphaFold |
Q99N19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075253
AA Change: E508Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074733
Gene: ENSMUSG00000024055
AA Change: E508Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:p450
|
52 |
514 |
1.9e-130 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137222
|
| SMART Domains |
Protein: ENSMUSP00000123495
Gene: ENSMUSG00000024055
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
SCOP:d1e9xa_
|
48 |
115 |
1e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139353
AA Change: E399Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123282
Gene: ENSMUSG00000024055
AA Change: E399Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:p450
|
60 |
405 |
7.8e-108 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP4F3, 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, CYP4F8, is approximately 18 kb away. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
G |
2: 19,522,493 (GRCm39) |
D202A |
probably damaging |
Het |
| Aass |
T |
A |
6: 23,077,123 (GRCm39) |
R745S |
probably benign |
Het |
| Adamts14 |
C |
T |
10: 61,085,439 (GRCm39) |
R195H |
possibly damaging |
Het |
| Afm |
T |
C |
5: 90,671,674 (GRCm39) |
F119L |
probably benign |
Het |
| Alox5ap |
T |
A |
5: 149,222,190 (GRCm39) |
V93E |
probably damaging |
Het |
| Ascl3 |
G |
A |
7: 109,327,104 (GRCm39) |
P72S |
probably benign |
Het |
| Cacnb1 |
C |
A |
11: 97,896,131 (GRCm39) |
D386Y |
probably damaging |
Het |
| Ccdc121rt3 |
T |
G |
5: 112,502,706 (GRCm39) |
I333L |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,737,485 (GRCm39) |
E2786G |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,951,107 (GRCm39) |
K227N |
possibly damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,116,186 (GRCm39) |
L843Q |
probably damaging |
Het |
| Elk4 |
T |
G |
1: 131,942,143 (GRCm39) |
I5S |
possibly damaging |
Het |
| Erc1 |
A |
T |
6: 119,774,036 (GRCm39) |
D306E |
possibly damaging |
Het |
| Fars2 |
G |
A |
13: 36,388,846 (GRCm39) |
V112I |
probably benign |
Het |
| Gdf2 |
A |
T |
14: 33,663,411 (GRCm39) |
T102S |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,302,922 (GRCm39) |
N586S |
probably damaging |
Het |
| Gm45861 |
T |
A |
8: 27,995,043 (GRCm39) |
S472T |
unknown |
Het |
| Gm5800 |
G |
A |
14: 51,951,995 (GRCm39) |
A89V |
possibly damaging |
Het |
| Gpalpp1 |
A |
G |
14: 76,344,792 (GRCm39) |
S64P |
probably damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,400 (GRCm39) |
V63A |
probably damaging |
Het |
| Htr7 |
A |
G |
19: 36,034,490 (GRCm39) |
V55A |
probably benign |
Het |
| Ica1 |
T |
A |
6: 8,667,362 (GRCm39) |
D268V |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,678,730 (GRCm39) |
E956G |
probably damaging |
Het |
| Itprid2 |
G |
A |
2: 79,475,180 (GRCm39) |
E380K |
probably benign |
Het |
| Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
| Kdr |
T |
C |
5: 76,109,428 (GRCm39) |
D983G |
probably damaging |
Het |
| Klhl23 |
C |
G |
2: 69,664,083 (GRCm39) |
I477M |
possibly damaging |
Het |
| Kpna2 |
G |
T |
11: 106,882,039 (GRCm39) |
H262Q |
possibly damaging |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Lrrc17 |
G |
A |
5: 21,766,033 (GRCm39) |
E172K |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,606,649 (GRCm39) |
I184F |
possibly damaging |
Het |
| Med11 |
A |
G |
11: 70,342,910 (GRCm39) |
T36A |
probably benign |
Het |
| Mtf2 |
A |
G |
5: 108,252,133 (GRCm39) |
D423G |
probably benign |
Het |
| Ndfip2 |
A |
G |
14: 105,525,157 (GRCm39) |
D146G |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,094,536 (GRCm39) |
I926V |
probably benign |
Het |
| Paqr6 |
T |
A |
3: 88,273,328 (GRCm39) |
S107T |
probably damaging |
Het |
| Pdgfrb |
G |
A |
18: 61,201,291 (GRCm39) |
S459N |
probably null |
Het |
| Pld5 |
T |
A |
1: 175,917,474 (GRCm39) |
H153L |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,263,244 (GRCm39) |
R788G |
possibly damaging |
Het |
| Smok2a |
A |
C |
17: 13,445,825 (GRCm39) |
R467S |
probably damaging |
Het |
| Sncaip |
A |
C |
18: 53,039,973 (GRCm39) |
K722N |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,989,214 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 75,950,994 (GRCm39) |
W382R |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,561,407 (GRCm39) |
V1324A |
probably damaging |
Het |
| Tmem120b |
A |
T |
5: 123,236,307 (GRCm39) |
I47F |
probably damaging |
Het |
| Tubg2 |
G |
A |
11: 101,049,957 (GRCm39) |
C201Y |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,192,677 (GRCm39) |
E268G |
probably damaging |
Het |
| Zfyve26 |
T |
G |
12: 79,318,915 (GRCm39) |
D1141A |
probably damaging |
Het |
|
| Other mutations in Cyp4f13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00836:Cyp4f13
|
APN |
17 |
33,160,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01835:Cyp4f13
|
APN |
17 |
33,149,588 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02234:Cyp4f13
|
APN |
17 |
33,143,748 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02437:Cyp4f13
|
APN |
17 |
33,149,582 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02465:Cyp4f13
|
APN |
17 |
33,148,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02604:Cyp4f13
|
APN |
17 |
33,151,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02934:Cyp4f13
|
APN |
17 |
33,148,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03177:Cyp4f13
|
APN |
17 |
33,165,888 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0117:Cyp4f13
|
UTSW |
17 |
33,149,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0138:Cyp4f13
|
UTSW |
17 |
33,160,080 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0220:Cyp4f13
|
UTSW |
17 |
33,148,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Cyp4f13
|
UTSW |
17 |
33,143,943 (GRCm39) |
splice site |
probably benign |
|
|
R0357:Cyp4f13
|
UTSW |
17 |
33,151,625 (GRCm39) |
nonsense |
probably null |
|
|
R1078:Cyp4f13
|
UTSW |
17 |
33,144,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Cyp4f13
|
UTSW |
17 |
33,148,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Cyp4f13
|
UTSW |
17 |
33,144,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2351:Cyp4f13
|
UTSW |
17 |
33,144,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4704:Cyp4f13
|
UTSW |
17 |
33,144,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Cyp4f13
|
UTSW |
17 |
33,144,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Cyp4f13
|
UTSW |
17 |
33,144,760 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5310:Cyp4f13
|
UTSW |
17 |
33,144,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Cyp4f13
|
UTSW |
17 |
33,148,179 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5996:Cyp4f13
|
UTSW |
17 |
33,148,447 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6190:Cyp4f13
|
UTSW |
17 |
33,148,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8254:Cyp4f13
|
UTSW |
17 |
33,148,907 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8495:Cyp4f13
|
UTSW |
17 |
33,143,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8496:Cyp4f13
|
UTSW |
17 |
33,143,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8498:Cyp4f13
|
UTSW |
17 |
33,143,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Cyp4f13
|
UTSW |
17 |
33,148,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Cyp4f13
|
UTSW |
17 |
33,144,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGAGGCATTGAGGATCTTG -3'
(R):5'- ACTAGGCCAGGTCCCAGAAATG -3'
Sequencing Primer
(F):5'- GTGATAAAATTTTGGTCTGATGCTC -3'
(R):5'- CAGGTCCCAGAAATGCGGAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation