Incidental Mutation 'R1078:Cyp4f13'
| ID |
85760 |
| 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 |
| MMRRC Submission |
039164-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R1078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33143662-33166376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33144542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 318
(H318R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075253]
[ENSMUST00000137222]
[ENSMUST00000139353]
|
| AlphaFold |
Q99N19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075253
AA Change: H427R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074733
Gene: ENSMUSG00000024055
AA Change: H427R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:p450
|
52 |
514 |
1.9e-130 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123653
|
| 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: H318R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123282
Gene: ENSMUSG00000024055
AA Change: H318R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:p450
|
60 |
405 |
7.8e-108 |
PFAM |
|
| Meta Mutation Damage Score |
0.8367 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.4%
- 20x: 94.4%
|
| Validation Efficiency |
96% (53/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,145,698 (GRCm39) |
T138A |
unknown |
Het |
| Abi3bp |
T |
C |
16: 56,474,444 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
T |
7: 80,728,348 (GRCm39) |
M493L |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,158,060 (GRCm39) |
A20V |
unknown |
Het |
| Bms1 |
T |
C |
6: 118,382,182 (GRCm39) |
D452G |
probably benign |
Het |
| Ccdc187 |
T |
C |
2: 26,184,389 (GRCm39) |
T3A |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,208,238 (GRCm39) |
V95A |
possibly damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,534,966 (GRCm39) |
K60E |
probably benign |
Het |
| Dlgap5 |
G |
A |
14: 47,637,023 (GRCm39) |
T485M |
probably damaging |
Het |
| Dsp |
C |
T |
13: 38,367,082 (GRCm39) |
|
probably benign |
Het |
| Ell2 |
T |
C |
13: 75,894,538 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
A |
T |
7: 18,913,687 (GRCm39) |
Y168F |
probably benign |
Het |
| Entrep1 |
T |
A |
19: 23,950,939 (GRCm39) |
R547S |
probably benign |
Het |
| Ep400 |
C |
T |
5: 110,883,388 (GRCm39) |
|
probably benign |
Het |
| Ercc4 |
C |
A |
16: 12,948,061 (GRCm39) |
A336D |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,037,235 (GRCm39) |
L3629S |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,664,833 (GRCm39) |
R925H |
probably damaging |
Het |
| Gfi1b |
A |
T |
2: 28,503,877 (GRCm39) |
W108R |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,746,508 (GRCm39) |
P108L |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,026,696 (GRCm39) |
F140I |
probably damaging |
Het |
| Hyal2 |
T |
A |
9: 107,449,445 (GRCm39) |
H400Q |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,902,585 (GRCm39) |
Y371H |
probably damaging |
Het |
| Il22b |
T |
G |
10: 118,126,056 (GRCm39) |
*180C |
probably null |
Het |
| Kdm2b |
T |
C |
5: 123,099,604 (GRCm39) |
T118A |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,821,557 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,157,910 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,388,457 (GRCm39) |
P2323T |
unknown |
Het |
| Lrrc38 |
A |
G |
4: 143,077,088 (GRCm39) |
Y117C |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,291,281 (GRCm39) |
V1024A |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,612,637 (GRCm39) |
N904S |
possibly damaging |
Het |
| Or12d13 |
T |
A |
17: 37,647,917 (GRCm39) |
I69F |
probably damaging |
Het |
| Or4k47 |
T |
C |
2: 111,451,690 (GRCm39) |
H243R |
probably damaging |
Het |
| Or9g4b |
T |
C |
2: 85,616,437 (GRCm39) |
V194A |
possibly damaging |
Het |
| Pld4 |
A |
T |
12: 112,729,876 (GRCm39) |
I53F |
probably benign |
Het |
| Plekhg4 |
T |
A |
8: 106,108,309 (GRCm39) |
C1117* |
probably null |
Het |
| Prss39 |
G |
A |
1: 34,541,167 (GRCm39) |
E224K |
probably benign |
Het |
| Psme1 |
G |
T |
14: 55,818,107 (GRCm39) |
G149V |
probably damaging |
Het |
| Sanbr |
A |
C |
11: 23,561,762 (GRCm39) |
I358S |
probably benign |
Het |
| Soat2 |
T |
A |
15: 102,061,573 (GRCm39) |
|
probably null |
Het |
| Stab2 |
C |
T |
10: 86,742,997 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
A |
G |
19: 55,731,627 (GRCm39) |
T127A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,142,091 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
G |
A |
13: 92,899,434 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
T |
C |
6: 97,150,261 (GRCm39) |
D482G |
probably damaging |
Het |
| Trim66 |
G |
T |
7: 109,071,526 (GRCm39) |
P591H |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,178,347 (GRCm39) |
S108P |
probably benign |
Het |
| Unc79 |
T |
G |
12: 103,041,112 (GRCm39) |
M715R |
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,383,175 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
G |
10: 12,331,310 (GRCm39) |
|
probably null |
Het |
| Zfp830 |
T |
C |
11: 82,656,165 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
R9067:Cyp4f13
|
UTSW |
17 |
33,143,801 (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'- GACCTTTGCACAAAACGCAGGC -3'
(R):5'- TTAATCTCCCGATGCTGCACCCAG -3'
Sequencing Primer
(F):5'- AAGCCAGAGGTGACCTTTTC -3'
(R):5'- AAAGGTGCCCTCAGTATCGTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation