Mutagenetix > Incidental Mutation

Incidental Mutation 'R5310:Cyp4f13'

404815

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

042893-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33143662-33166376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33144795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 372 (D372G)

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: D372G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074733
Gene: ENSMUSG00000024055
AA Change: D372G

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: D263G

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123282
Gene: ENSMUSG00000024055
AA Change: D263G

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

0.2455

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

100% (74/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,931,839 (GRCm39)	I31L	possibly damaging	Het
Abca17	T	C	17: 24,500,204 (GRCm39)	K1329R	probably benign	Het
Acap2	A	G	16: 30,952,427 (GRCm39)	Y197H	probably benign	Het
Adgrv1	A	G	13: 81,624,809 (GRCm39)	V3720A	possibly damaging	Het
Alms1	T	A	6: 85,592,350 (GRCm39)	S870T	possibly damaging	Het
Anapc4	A	G	5: 53,016,501 (GRCm39)	E493G	probably benign	Het
Ap2a1	A	G	7: 44,555,489 (GRCm39)		probably null	Het
Arhgef38	A	G	3: 132,822,227 (GRCm39)	L179P	probably damaging	Het
Bicral	T	C	17: 47,124,909 (GRCm39)	D630G	possibly damaging	Het
Ccdc97	A	T	7: 25,415,201 (GRCm39)	L154Q	probably damaging	Het
Cd40	T	C	2: 164,905,483 (GRCm39)		probably null	Het
Celsr1	T	A	15: 85,810,423 (GRCm39)	N2155I	possibly damaging	Het
Cemip	A	T	7: 83,641,241 (GRCm39)	L261H	probably damaging	Het
Cep57	G	A	9: 13,730,164 (GRCm39)	H98Y	probably damaging	Het
Chrna7	A	T	7: 62,755,805 (GRCm39)	L247Q	probably damaging	Het
Cyp2c40	T	A	19: 39,766,474 (GRCm39)	M374L	probably damaging	Het
Dazl	C	A	17: 50,588,311 (GRCm39)	S288I	probably damaging	Het
Dnah5	T	C	15: 28,311,474 (GRCm39)	F1818L	probably damaging	Het
Echdc1	T	C	10: 29,210,204 (GRCm39)	V143A	possibly damaging	Het
Eif4enif1	T	A	11: 3,192,687 (GRCm39)	H838Q	probably damaging	Het
Erich3	A	T	3: 154,469,217 (GRCm39)	D1223V	probably damaging	Het
Fbxl2	A	G	9: 113,815,576 (GRCm39)	I229T	possibly damaging	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Ggnbp2	A	G	11: 84,760,794 (GRCm39)	M1T	probably null	Het
Glb1l2	C	T	9: 26,708,162 (GRCm39)		probably benign	Het
Gnl2	A	G	4: 124,946,633 (GRCm39)	K618R	probably benign	Het
Greb1	A	T	12: 16,766,760 (GRCm39)	I346K	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Gtse1	A	G	15: 85,757,993 (GRCm39)	Q533R	probably benign	Het
Hemgn	A	G	4: 46,403,927 (GRCm39)	S23P	possibly damaging	Het
Htr6	G	T	4: 138,788,977 (GRCm39)	H359Q	probably damaging	Het
Ifit1	T	C	19: 34,626,204 (GRCm39)	F447L	probably benign	Het
Kansl1	T	C	11: 104,315,684 (GRCm39)	Y118C	possibly damaging	Het
Khk	G	A	5: 31,084,373 (GRCm39)	V118M	probably benign	Het
Klra17	T	A	6: 129,845,671 (GRCm39)	K181M	probably damaging	Het
Lbh	T	C	17: 73,228,287 (GRCm39)		probably null	Het
Lmo2	T	C	2: 103,806,445 (GRCm39)	I108T	probably damaging	Het
Maco1	T	C	4: 134,564,330 (GRCm39)		probably benign	Het
Mgat5	T	A	1: 127,315,251 (GRCm39)		probably null	Het
Mink1	T	C	11: 70,498,169 (GRCm39)	V525A	probably benign	Het
Myo10	C	A	15: 25,778,164 (GRCm39)		probably null	Het
Nlrp2	T	C	7: 5,328,007 (GRCm39)	N682S	probably benign	Het
Nr2e3	G	A	9: 59,856,617 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,414,171 (GRCm39)	C129R	probably damaging	Het
Or6b2b	T	C	1: 92,418,758 (GRCm39)	T240A	probably damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pfas	G	A	11: 68,878,847 (GRCm39)	S1319F	probably damaging	Het
Phf3	T	C	1: 30,842,887 (GRCm39)	K2024R	probably damaging	Het
Pld4	G	A	12: 112,735,046 (GRCm39)	C501Y	probably damaging	Het
Psg16	C	T	7: 16,824,560 (GRCm39)	R115W	probably damaging	Het
Rab3gap1	G	A	1: 127,870,110 (GRCm39)		probably null	Het
Rimkla	C	A	4: 119,335,049 (GRCm39)	K111N	probably damaging	Het
Rrm2b	T	C	15: 37,927,571 (GRCm39)	E113G	probably damaging	Het
Rspry1	C	T	8: 95,349,813 (GRCm39)	T67I	probably benign	Het
Skint6	C	A	4: 113,041,965 (GRCm39)	E292*	probably null	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc13a1	A	G	6: 24,134,373 (GRCm39)	M170T	probably benign	Het
Slc15a5	T	C	6: 138,050,034 (GRCm39)	N127S	probably benign	Het
Slc39a10	G	A	1: 46,875,285 (GRCm39)	H6Y	probably damaging	Het
Spata31e2	A	C	1: 26,724,169 (GRCm39)	V337G	probably benign	Het
Sugct	A	T	13: 17,427,145 (GRCm39)	C338*	probably null	Het
Tbk1	A	T	10: 121,391,956 (GRCm39)	M486K	probably benign	Het
Terf1	A	T	1: 15,875,909 (GRCm39)	E3V	probably damaging	Het
Thoc5	T	A	11: 4,860,648 (GRCm39)	Y246N	probably damaging	Het
Tmem167b	G	A	3: 108,469,415 (GRCm39)		probably benign	Het
Tmtc1	T	A	6: 148,256,910 (GRCm39)		probably benign	Het
Zfp322a	A	T	13: 23,541,532 (GRCm39)	M70K	possibly damaging	Het
Zfp979	A	T	4: 147,698,375 (GRCm39)	H111Q	possibly 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
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'- CCTGTTGAGTAAGGAGACAGGTC -3'
(R):5'- CTGACAAGTCTCTTCTGGCC -3'

Sequencing Primer
(F):5'- GTCAGGTCCACGATGCTTCTG -3'
(R):5'- TTCTGGCCTCCACAGACATATAG -3'

Posted On

2016-07-22