Mutagenetix > Incidental Mutation

Incidental Mutation 'R4865:Cyp4f13'

374872

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

042475-MU

Accession Numbers

Essential gene?

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

Stock #

R4865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33143662-33166376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33144678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 411 (R411Q)

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: R411Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074733
Gene: ENSMUSG00000024055
AA Change: R411Q

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: R302Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123282
Gene: ENSMUSG00000024055
AA Change: R302Q

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

0.5568

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

98% (86/88)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,938,157 (GRCm39)	V639M	probably damaging	Het
Adgrf4	A	G	17: 42,978,156 (GRCm39)	S396P	probably damaging	Het
Aldh3b2	T	A	19: 4,028,469 (GRCm39)	I123N	probably damaging	Het
Aldh5a1	A	G	13: 25,095,567 (GRCm39)	Y517H	probably damaging	Het
Aph1c	A	C	9: 66,735,120 (GRCm39)	I77S	probably damaging	Het
Armc8	A	G	9: 99,408,942 (GRCm39)		probably null	Het
Atp13a5	G	A	16: 29,066,912 (GRCm39)	P1020L	probably damaging	Het
BC024139	A	T	15: 76,010,266 (GRCm39)	M80K	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cenpn	A	G	8: 117,661,512 (GRCm39)	I204V	probably damaging	Het
Ces4a	A	T	8: 105,873,790 (GRCm39)	M420L	probably benign	Het
Chdh	T	A	14: 29,755,681 (GRCm39)	D322E	probably benign	Het
Clcn6	A	T	4: 148,104,223 (GRCm39)	I223N	probably damaging	Het
Clec4b1	A	G	6: 123,045,428 (GRCm39)	K50E	possibly damaging	Het
Creg1	T	A	1: 165,597,432 (GRCm39)	C135*	probably null	Het
Dnah7b	T	C	1: 46,234,234 (GRCm39)	F1426L	probably damaging	Het
Dock9	A	T	14: 121,780,917 (GRCm39)	*1917R	probably null	Het
Dync1h1	T	G	12: 110,606,235 (GRCm39)	L2435R	possibly damaging	Het
Eif3l	C	A	15: 78,965,849 (GRCm39)	Y166*	probably null	Het
Emilin1	T	A	5: 31,075,128 (GRCm39)	N456K	possibly damaging	Het
Fam83f	C	T	15: 80,576,650 (GRCm39)	R434C	probably damaging	Het
Fbxw9	A	G	8: 85,786,785 (GRCm39)	D10G	possibly damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fsip2	T	G	2: 82,821,295 (GRCm39)	V5676G	possibly damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm11596	A	G	11: 99,684,064 (GRCm39)		probably benign	Het
Gm6522	T	C	3: 106,183,286 (GRCm39)		noncoding transcript	Het
Gm6728	A	G	6: 136,464,072 (GRCm39)		noncoding transcript	Het
Gria4	T	A	9: 4,464,295 (GRCm39)	I556F	possibly damaging	Het
Grp	A	T	18: 66,013,041 (GRCm39)	D69V	probably damaging	Het
Gucy1a1	G	T	3: 82,026,469 (GRCm39)		probably benign	Het
Haus5	A	T	7: 30,357,980 (GRCm39)	L376Q	probably damaging	Het
Ifne	A	T	4: 88,797,942 (GRCm39)	Y159N	probably damaging	Het
Ift80	A	G	3: 68,898,092 (GRCm39)	V81A	probably benign	Het
Inpp5b	T	C	4: 124,645,288 (GRCm39)	V192A	probably benign	Het
Kcnh4	A	G	11: 100,640,569 (GRCm39)	S486P	probably damaging	Het
Kif5b	A	G	18: 6,222,912 (GRCm39)		probably benign	Het
Macf1	T	A	4: 123,327,096 (GRCm39)	E4800D	probably damaging	Het
Mblac2	C	T	13: 81,860,095 (GRCm39)	Q150*	probably null	Het
Mc1r	A	T	8: 124,134,255 (GRCm39)	T3S	probably benign	Het
Med17	G	A	9: 15,176,668 (GRCm39)	Q70*	probably null	Het
Myocd	A	T	11: 65,069,856 (GRCm39)		probably null	Het
Nphp3	T	C	9: 103,909,169 (GRCm39)	L793P	probably benign	Het
Or1ad1	A	G	11: 50,876,370 (GRCm39)	T281A	probably damaging	Het
Or2m13	A	T	16: 19,226,051 (GRCm39)	F238L	probably damaging	Het
Or4a68	T	G	2: 89,270,003 (GRCm39)	T207P	possibly damaging	Het
Or5an10	T	C	19: 12,275,944 (GRCm39)	D184G	probably damaging	Het
Or5ap2	T	A	2: 85,680,060 (GRCm39)	M88K	probably damaging	Het
Or8c13	T	A	9: 38,091,196 (GRCm39)	T308S	possibly damaging	Het
Piezo1	A	T	8: 123,213,660 (GRCm39)	L1745Q	probably damaging	Het
Prdm10	T	A	9: 31,258,376 (GRCm39)	H600Q	probably damaging	Het
Psapl1	C	A	5: 36,362,211 (GRCm39)	L268M	probably damaging	Het
Psg23	T	C	7: 18,346,039 (GRCm39)	I219V	probably benign	Het
Rexo5	A	T	7: 119,400,553 (GRCm39)	R113*	probably null	Het
Rgs22	A	T	15: 36,100,358 (GRCm39)	I243N	probably damaging	Het
Rhbdf1	G	A	11: 32,164,517 (GRCm39)	T183I	probably damaging	Het
Rhobtb1	T	C	10: 69,106,554 (GRCm39)	M373T	probably benign	Het
Ros1	G	T	10: 52,048,966 (GRCm39)	A88E	probably damaging	Het
Sdr16c6	A	G	4: 4,058,834 (GRCm39)	F251L	probably benign	Het
Skil	A	G	3: 31,167,562 (GRCm39)	Y398C	probably damaging	Het
Slc22a3	A	T	17: 12,683,419 (GRCm39)	M148K	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Sntn	A	T	14: 13,679,103 (GRCm38)	K92N	probably benign	Het
Spry4	A	T	18: 38,722,876 (GRCm39)	S296T	probably benign	Het
St8sia1	A	G	6: 142,774,796 (GRCm39)	F261S	probably damaging	Het
Stab2	C	T	10: 86,679,364 (GRCm39)		probably null	Het
Stk24	A	T	14: 121,530,866 (GRCm39)	C363*	probably null	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tmem67	T	C	4: 12,070,262 (GRCm39)	N387S	probably benign	Het
Treml1	A	T	17: 48,673,885 (GRCm39)	I304L	probably benign	Het
Trim13	A	G	14: 61,842,966 (GRCm39)	I328V	probably benign	Het
Upk2	A	G	9: 44,365,382 (GRCm39)	V62A	probably damaging	Het
Urb2	A	T	8: 124,756,374 (GRCm39)	K694*	probably null	Het
Vmn2r17	C	A	5: 109,574,985 (GRCm39)	N97K	probably damaging	Het
Vmn2r57	A	T	7: 41,049,892 (GRCm39)	V619D	probably damaging	Het
Vmn2r92	G	A	17: 18,387,634 (GRCm39)	R213Q	probably benign	Het
Wnt6	G	A	1: 74,821,788 (GRCm39)	C123Y	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm39)	I253T	probably damaging	Het
Zfp52	C	T	17: 21,781,505 (GRCm39)	S451L	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
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'- CATGTCCAGGATGGTAGCTCTG -3'
(R):5'- TCGGTGGCAGAGAGACTTTG -3'

Sequencing Primer
(F):5'- TTCTCCAGGCTCCAGAGTTGG -3'
(R):5'- CAGAGAGACTTTGTTTTTGCTCC -3'

Posted On

2016-03-17