Mutagenetix > Incidental Mutation

Incidental Mutation 'R0357:Cyp4f13'

29911

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f13

Ensembl Gene

ENSMUSG00000024055

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 13

Synonyms

0610030I10Rik, P450 CYP4F13, leukotriene B4 omega hydroxylase

MMRRC Submission

038563-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R0357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32924688-32947402 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 32932651 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 125 (Y125*)

Ref Sequence

ENSEMBL: ENSMUSP00000074733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075253] [ENSMUST00000137222] [ENSMUST00000139353] [ENSMUST00000141325] [ENSMUST00000145683]

AlphaFold

Q99N19

Predicted Effect

probably null
Transcript: ENSMUST00000075253
AA Change: Y125*

SMART Domains

Protein: ENSMUSP00000074733
Gene: ENSMUSG00000024055
AA Change: Y125*

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 benign
Transcript: ENSMUST00000139353

SMART Domains

Protein: ENSMUSP00000123282
Gene: ENSMUSG00000024055

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:p450	60	405	7.8e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141325

SMART Domains

Protein: ENSMUSP00000117168
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: ENSMUST00000145683

SMART Domains

Protein: ENSMUSP00000118919
Gene: ENSMUSG00000024055

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,179,209	S169P	possibly damaging	Het
4930402H24Rik	A	T	2: 130,712,946		probably benign	Het
4931428F04Rik	A	T	8: 105,285,067	V222E	probably damaging	Het
4932431P20Rik	A	T	7: 29,535,582		noncoding transcript	Het
9230019H11Rik	A	T	10: 3,120,307		noncoding transcript	Het
9230019H11Rik	A	G	10: 3,125,788		noncoding transcript	Het
Abcf2	T	C	5: 24,573,465	K232E	probably benign	Het
AI837181	C	T	19: 5,426,703	T298I	possibly damaging	Het
Alox12	T	C	11: 70,242,536	Y614C	probably damaging	Het
Amn	A	T	12: 111,274,141		probably null	Het
Ankrd33b	A	G	15: 31,305,126	S121P	probably benign	Het
Aox1	A	G	1: 58,092,516	Y1028C	probably damaging	Het
Asph	C	A	4: 9,453,314	R736L	probably benign	Het
Atp2a3	G	A	11: 72,970,931		probably null	Het
Cables2	T	C	2: 180,262,232		probably benign	Het
Catsperg2	A	T	7: 29,714,901	Y360N	possibly damaging	Het
Ccdc129	T	A	6: 55,968,034	M580K	probably benign	Het
Cd163l1	T	G	7: 140,227,895	C660G	probably damaging	Het
Cdh4	T	C	2: 179,847,340	S282P	probably damaging	Het
Col5a3	C	T	9: 20,807,768		probably benign	Het
Ctso	A	T	3: 81,951,543		probably benign	Het
Dapk1	T	A	13: 60,729,558	L537*	probably null	Het
Ddit4l	G	A	3: 137,626,185	R104Q	probably benign	Het
Def6	C	T	17: 28,223,935	H322Y	probably damaging	Het
Dnah6	T	C	6: 73,188,359	N588D	probably benign	Het
Dzip1	T	A	14: 118,909,538	I320F	probably damaging	Het
Epb41l5	T	C	1: 119,609,204	H319R	probably damaging	Het
Erc2	A	G	14: 27,777,022	E285G	probably damaging	Het
Fam109b	C	T	15: 82,343,316	A12V	probably damaging	Het
Fat4	G	A	3: 38,891,227	G1423E	probably damaging	Het
Foxp2	C	T	6: 15,409,840	P480S	probably damaging	Het
Gadd45gip1	G	A	8: 84,834,133	A126T	probably damaging	Het
Gbp5	G	A	3: 142,505,411	D301N	probably benign	Het
Gm10360	T	C	6: 70,424,313		noncoding transcript	Het
Gm6471	T	A	7: 142,833,867		noncoding transcript	Het
Gm8674	T	A	13: 49,902,113		noncoding transcript	Het
Hist2h2bb	A	C	3: 96,269,788	K13Q	probably null	Het
Ift172	A	G	5: 31,257,900	S1322P	possibly damaging	Het
Ift80	A	T	3: 68,914,653	Y686*	probably null	Het
Insrr	A	C	3: 87,808,646		probably null	Het
Krt83	C	T	15: 101,487,019	V399M	probably benign	Het
Macf1	T	C	4: 123,457,983	N3708S	probably damaging	Het
Mogat1	T	C	1: 78,512,040	S27P	probably benign	Het
Mrgpra4	A	T	7: 47,981,826	M9K	probably benign	Het
Mtus1	A	T	8: 41,083,526	S384R	possibly damaging	Het
Myo1a	T	A	10: 127,710,902	M306K	probably benign	Het
Noxa1	G	T	2: 25,085,850	D403E	probably damaging	Het
Ogdhl	T	C	14: 32,346,458	V884A	possibly damaging	Het
Olfr1335	A	C	4: 118,809,417	L149R	probably damaging	Het
Olfr1392	A	G	11: 49,293,786	N155S	probably damaging	Het
Olfr424	T	A	1: 174,137,299	L185*	probably null	Het
Olfr429	T	C	1: 174,089,109	V23A	possibly damaging	Het
Paxip1	G	A	5: 27,758,623		probably benign	Het
Paxx	T	A	2: 25,460,067	E145D	probably damaging	Het
Pde4d	T	C	13: 109,951,268	V560A	possibly damaging	Het
Plxnd1	C	T	6: 115,969,460	V847M	probably benign	Het
Polk	T	A	13: 96,504,597	M151L	probably damaging	Het
Ptprq	C	T	10: 107,686,199		probably benign	Het
Pum2	A	G	12: 8,721,785	Q371R	possibly damaging	Het
Reln	G	A	5: 21,950,822	A2224V	probably damaging	Het
Shroom1	A	G	11: 53,465,208	T362A	probably damaging	Het
Smarcd2	A	G	11: 106,267,332		probably null	Het
Spg11	A	C	2: 122,066,232		probably benign	Het
Tcaf3	T	A	6: 42,589,827	Y776F	probably damaging	Het
Thada	A	G	17: 84,230,936	V1548A	probably damaging	Het
Trpv2	C	T	11: 62,590,304	P410S	probably damaging	Het
Ube2u	G	T	4: 100,481,654	E39*	probably null	Het
Vmn2r2	C	T	3: 64,133,899		probably null	Het
Vmn2r24	TCC	TC	6: 123,815,410		probably null	Het
Zfp110	A	G	7: 12,836,375	Y43C	probably damaging	Het
Zfp605	A	G	5: 110,124,379	T55A	probably benign	Het

Other mutations in Cyp4f13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Cyp4f13	APN	17	32941164	missense	probably benign	0.00
IGL01835:Cyp4f13	APN	17	32930614	missense	probably benign	0.39
IGL02234:Cyp4f13	APN	17	32924774	utr 3 prime	probably benign
IGL02437:Cyp4f13	APN	17	32930608	missense	probably benign	0.12
IGL02465:Cyp4f13	APN	17	32929136	critical splice donor site	probably null
IGL02604:Cyp4f13	APN	17	32932421	missense	probably benign	0.01
IGL02934:Cyp4f13	APN	17	32929871	missense	probably damaging	1.00
IGL03177:Cyp4f13	APN	17	32946914	missense	possibly damaging	0.88
R0117:Cyp4f13	UTSW	17	32930606	missense	probably damaging	0.98
R0138:Cyp4f13	UTSW	17	32941106	missense	possibly damaging	0.63
R0220:Cyp4f13	UTSW	17	32929502	missense	probably damaging	1.00
R0243:Cyp4f13	UTSW	17	32924969	splice site	probably benign
R1078:Cyp4f13	UTSW	17	32925568	missense	probably damaging	1.00
R1757:Cyp4f13	UTSW	17	32929958	missense	probably damaging	1.00
R1990:Cyp4f13	UTSW	17	32925568	missense	probably damaging	1.00
R2351:Cyp4f13	UTSW	17	32925596	missense	probably benign	0.01
R4704:Cyp4f13	UTSW	17	32925735	missense	probably damaging	1.00
R4865:Cyp4f13	UTSW	17	32925704	missense	probably damaging	1.00
R5004:Cyp4f13	UTSW	17	32925786	missense	probably benign	0.39
R5310:Cyp4f13	UTSW	17	32925821	missense	probably damaging	1.00
R5574:Cyp4f13	UTSW	17	32929205	missense	probably benign	0.39
R5996:Cyp4f13	UTSW	17	32929473	missense	possibly damaging	0.87
R6190:Cyp4f13	UTSW	17	32929873	missense	probably damaging	1.00
R8254:Cyp4f13	UTSW	17	32929933	missense	probably benign	0.04
R8495:Cyp4f13	UTSW	17	32924859	missense	probably damaging	1.00
R8496:Cyp4f13	UTSW	17	32924859	missense	probably damaging	1.00
R8498:Cyp4f13	UTSW	17	32924859	missense	probably damaging	1.00
R9067:Cyp4f13	UTSW	17	32924827	missense	probably damaging	1.00
R9225:Cyp4f13	UTSW	17	32925345	missense	probably damaging	1.00
R9225:Cyp4f13	UTSW	17	32929201	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCACTTGTCACCAGCACTCATCAG -3'
(R):5'- TTTTGGGGCAGCCAAGGAAGAC -3'

Sequencing Primer
(F):5'- GCACTCATCAGGAGCCC -3'
(R):5'- CATATGTCCCAGGATGTCTCAGG -3'

Posted On

2013-04-24