Mutagenetix > Incidental Mutation

Incidental Mutation 'R2351:Cyp4f13'

246168

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

040333-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2351 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33143662-33166376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 33144570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 309 (I309L)

Ref Sequence

ENSEMBL: ENSMUSP00000123282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075253] [ENSMUST00000137222] [ENSMUST00000139353]

AlphaFold

Q99N19

Predicted Effect

probably benign
Transcript: ENSMUST00000075253
AA Change: I418L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000074733
Gene: ENSMUSG00000024055
AA Change: I418L

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 benign
Transcript: ENSMUST00000139353
AA Change: I309L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000123282
Gene: ENSMUSG00000024055
AA Change: I309L

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,779,846 (GRCm39)	Y135*	probably null	Het
Aadacl4fm1	A	T	4: 144,255,348 (GRCm39)	Y256F	probably damaging	Het
Acad10	A	T	5: 121,767,990 (GRCm39)	I820K	probably benign	Het
Arl8b	A	T	6: 108,798,484 (GRCm39)	I178F	possibly damaging	Het
Asap1	A	T	15: 64,007,653 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,766,718 (GRCm39)	I552N	possibly damaging	Het
C130074G19Rik	G	T	1: 184,615,060 (GRCm39)	D43E	probably benign	Het
Ccdc162	C	A	10: 41,431,968 (GRCm39)		probably null	Het
Ccdc186	T	G	19: 56,787,129 (GRCm39)	K613T	possibly damaging	Het
Cggbp1	T	A	16: 64,676,046 (GRCm39)	D37E	possibly damaging	Het
Cntn3	A	T	6: 102,314,344 (GRCm39)	N123K	possibly damaging	Het
Col18a1	C	T	10: 76,948,538 (GRCm39)	G325S	probably benign	Het
Cwc25	G	T	11: 97,638,218 (GRCm39)	T405K	probably damaging	Het
Cyp4a31	T	C	4: 115,428,510 (GRCm39)	V370A	possibly damaging	Het
Dap3	A	T	3: 88,840,870 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,403,301 (GRCm39)	D3080E	probably benign	Het
Ern2	A	G	7: 121,770,731 (GRCm39)	V762A	probably damaging	Het
Fgr	C	T	4: 132,724,548 (GRCm39)	R255C	probably damaging	Het
Gcm2	A	T	13: 41,257,094 (GRCm39)	D218E	probably benign	Het
Gfi1	A	G	5: 107,869,640 (GRCm39)	S131P	probably damaging	Het
Grm8	A	T	6: 28,126,118 (GRCm39)	C3S	possibly damaging	Het
Gucy2d	A	G	7: 98,113,226 (GRCm39)	D840G	probably benign	Het
H3f3a	T	C	1: 180,637,723 (GRCm39)	T81A	probably benign	Het
Igsf23	C	T	7: 19,678,723 (GRCm39)	W22*	probably null	Het
Il12rb2	G	A	6: 67,338,928 (GRCm39)	Q3*	probably null	Het
Ino80d	A	T	1: 63,124,994 (GRCm39)	L156H	probably benign	Het
Kdm2a	G	A	19: 4,379,154 (GRCm39)	P554S	probably benign	Het
Lefty1	T	A	1: 180,764,807 (GRCm39)	L244H	possibly damaging	Het
Mdn1	T	A	4: 32,750,010 (GRCm39)	S4398T	probably benign	Het
Myh10	A	G	11: 68,683,965 (GRCm39)	D1126G	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myom1	A	T	17: 71,341,574 (GRCm39)	D111V	probably damaging	Het
Naip6	T	A	13: 100,420,169 (GRCm39)	D1367V	probably damaging	Het
Nbeal1	A	T	1: 60,276,257 (GRCm39)	H666L	possibly damaging	Het
Nsmaf	T	A	4: 6,437,921 (GRCm39)	I77F	probably damaging	Het
Nvl	T	C	1: 180,958,357 (GRCm39)	T231A	probably benign	Het
Obscn	T	C	11: 59,003,438 (GRCm39)	R1287G	probably damaging	Het
Opn3	T	C	1: 175,520,077 (GRCm39)	D9G	probably benign	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or4c114	C	T	2: 88,904,743 (GRCm39)	G231S	possibly damaging	Het
Or6a2	A	T	7: 106,600,883 (GRCm39)	Y61*	probably null	Het
Or6c8b	A	G	10: 128,882,797 (GRCm39)	V45A	probably benign	Het
Or6k2	T	A	1: 173,986,486 (GRCm39)	V49D	probably damaging	Het
Or8k24	C	T	2: 86,216,471 (GRCm39)	C97Y	probably damaging	Het
Parp10	A	T	15: 76,127,056 (GRCm39)	S101R	probably benign	Het
Pdhx	T	A	2: 102,854,562 (GRCm39)	K399*	probably null	Het
Pdia4	A	T	6: 47,773,848 (GRCm39)		probably null	Het
Pla2g4f	T	C	2: 120,130,923 (GRCm39)	D844G	probably benign	Het
Prtg	C	A	9: 72,764,106 (GRCm39)	D526E	probably damaging	Het
Rassf6	T	C	5: 90,779,418 (GRCm39)	D5G	probably benign	Het
Riok3	C	T	18: 12,282,724 (GRCm39)	Q388*	probably null	Het
Robo4	T	A	9: 37,322,956 (GRCm39)	F825L	probably benign	Het
Rpl13a-ps1	C	T	19: 50,018,868 (GRCm39)	E103K	probably benign	Het
Rpl18a	A	T	8: 71,348,864 (GRCm39)	H37Q	probably benign	Het
Ryr1	A	T	7: 28,774,718 (GRCm39)	S2301T	probably benign	Het
Slc39a9	T	A	12: 80,691,660 (GRCm39)	D2E	possibly damaging	Het
Slco5a1	C	T	1: 13,060,158 (GRCm39)	V188I	probably benign	Het
Son	T	A	16: 91,454,547 (GRCm39)	M1098K	probably damaging	Het
Spag9	A	G	11: 93,983,726 (GRCm39)	D701G	probably damaging	Het
Ssmem1	T	C	6: 30,512,495 (GRCm39)	F46S	possibly damaging	Het
Sspo	C	T	6: 48,441,803 (GRCm39)	R1938W	probably damaging	Het
Sstr3	T	C	15: 78,424,121 (GRCm39)	I209V	probably benign	Het
Tlk2	A	G	11: 105,100,656 (GRCm39)	Y87C	probably damaging	Het
Traf4	G	A	11: 78,051,002 (GRCm39)	R385W	probably damaging	Het
Triobp	G	A	15: 78,888,780 (GRCm39)	V1962M	probably benign	Het
Tspan12	T	G	6: 21,835,506 (GRCm39)	I56L	probably benign	Het
Upp2	T	A	2: 58,653,674 (GRCm39)		probably null	Het
Vps13b	T	C	15: 35,869,457 (GRCm39)	W2654R	probably damaging	Het
Zc3h18	C	T	8: 123,129,926 (GRCm39)	R435*	probably null	Het
Zfta	T	C	19: 7,399,609 (GRCm39)	I247T	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
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'- GTTGTAGACCTGTAGGCCAAG -3'
(R):5'- CTGACCATGTGCATCAAGGAG -3'

Sequencing Primer
(F):5'- CCAAGAAAGACTACGCTAGTGGGTC -3'
(R):5'- CCATGTGCATCAAGGAGAGTCTG -3'

Posted On

2014-10-30