Mutagenetix > Incidental Mutations

Incidental Mutation 'R1426:Cyp4x1'

162243

Institutional Source

Beutler Lab

Gene Symbol

Cyp4x1

Ensembl Gene

ENSMUSG00000047155

Gene Name

cytochrome P450, family 4, subfamily x, polypeptide 1

Synonyms

Cyp4a28-ps

MMRRC Submission

039482-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R1426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115106323-115134281 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 115112791 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051400] [ENSMUST00000106545]

Predicted Effect

probably benign
Transcript: ENSMUST00000051400

SMART Domains

Protein: ENSMUSP00000059545
Gene: ENSMUSG00000047155

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
Pfam:p450	46	501	1.5e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106545

SMART Domains

Protein: ENSMUSP00000102155
Gene: ENSMUSG00000047155

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
Pfam:p450	20	475	4.7e-118	PFAM

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.1%

Validation Efficiency

100% (40/40)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes and is located within a cluster of genes belonging to this superfamily on chromosome 1. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,324,435	V214E	probably damaging	Het
Adh1	A	G	3: 138,286,795	D224G	probably damaging	Het
Arhgap28	C	A	17: 67,857,464	Q554H	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Brat1	G	A	5: 140,718,013	V674I	probably benign	Het
Brd2	ATCTTCTTC	ATCTTC	17: 34,114,007		probably benign	Het
Ccdc162	T	C	10: 41,553,182	D438G	possibly damaging	Het
Dip2a	T	C	10: 76,279,820		probably benign	Het
Eif2s1	A	G	12: 78,881,168	D206G	probably benign	Het
Elovl7	T	A	13: 108,282,494	I220N	possibly damaging	Het
Gsto1	A	G	19: 47,857,942	E76G	probably damaging	Het
Hspa14	A	T	2: 3,508,821	W12R	probably damaging	Het
L3mbtl2	T	A	15: 81,676,317	C260S	possibly damaging	Het
Lama3	G	T	18: 12,481,098		probably null	Het
Lrrc34	T	A	3: 30,643,579		probably benign	Het
Lrrc45	A	T	11: 120,720,013	Q525L	probably benign	Het
Lss	T	C	10: 76,536,303	I164T	probably damaging	Het
Myh11	T	A	16: 14,205,931	K1527*	probably null	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Ncoa1	T	A	12: 4,270,737		probably benign	Het
Olfr262	G	T	19: 12,241,182	Q160K	possibly damaging	Het
Olfr768	A	T	10: 129,093,690	C95S	probably damaging	Het
Pafah1b3	T	C	7: 25,297,135	E41G	possibly damaging	Het
Pnmal1	C	T	7: 16,960,984	P255S	possibly damaging	Het
Prkar2b	A	T	12: 31,962,988		probably benign	Het
Rbck1	A	T	2: 152,327,241		probably benign	Het
Rcor2	A	G	19: 7,271,030	S137G	possibly damaging	Het
Slc25a48	T	A	13: 56,448,991		probably benign	Het
Slc7a4	A	G	16: 17,573,944		probably null	Het
Tert	T	C	13: 73,642,353		probably benign	Het
Traf7	A	T	17: 24,511,681	I344N	probably damaging	Het
Vmn1r194	T	A	13: 22,245,066	F284L	probably damaging	Het
Xpc	A	G	6: 91,493,238	M699T	probably damaging	Het
Zbtb5	T	C	4: 44,993,968	H472R	possibly damaging	Het
Zfp786	A	G	6: 47,825,079	V88A	probably benign	Het
Zkscan7	T	C	9: 122,895,163	I399T	probably benign	Het
Zyg11b	G	A	4: 108,250,812	R466C	probably damaging	Het

Other mutations in Cyp4x1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Cyp4x1	APN	4	115121948	missense	probably benign	0.00
IGL00913:Cyp4x1	APN	4	115112863	missense	probably benign	0.19
IGL02990:Cyp4x1	APN	4	115121749	missense	probably benign	0.02
IGL03411:Cyp4x1	APN	4	115108785	missense	probably benign	0.05
R0607:Cyp4x1	UTSW	4	115112826	missense	probably damaging	1.00
R1148:Cyp4x1	UTSW	4	115126555	splice site	probably benign
R1148:Cyp4x1	UTSW	4	115126555	splice site	probably benign
R1484:Cyp4x1	UTSW	4	115112901	missense	probably damaging	1.00
R1675:Cyp4x1	UTSW	4	115127560	missense	possibly damaging	0.94
R1718:Cyp4x1	UTSW	4	115111670	missense	possibly damaging	0.75
R2208:Cyp4x1	UTSW	4	115126594	missense	probably benign	0.01
R2325:Cyp4x1	UTSW	4	115124379	missense	probably benign	0.40
R4223:Cyp4x1	UTSW	4	115112880	missense	probably damaging	0.98
R4588:Cyp4x1	UTSW	4	115108797	missense	probably damaging	1.00
R4717:Cyp4x1	UTSW	4	115121705	missense	probably benign	0.02
R5522:Cyp4x1	UTSW	4	115121977	missense	probably damaging	1.00
R5880:Cyp4x1	UTSW	4	115108721	missense	possibly damaging	0.62
R5994:Cyp4x1	UTSW	4	115121945	missense	probably benign
R6103:Cyp4x1	UTSW	4	115111667	missense	probably damaging	1.00
R7733:Cyp4x1	UTSW	4	115120194	missense	possibly damaging	0.50
R8113:Cyp4x1	UTSW	4	115110066	missense	probably damaging	1.00
R8172:Cyp4x1	UTSW	4	115111677	missense	possibly damaging	0.94
R8366:Cyp4x1	UTSW	4	115112866	missense	probably benign	0.08
Z1177:Cyp4x1	UTSW	4	115110103	missense	probably damaging	1.00
Z1177:Cyp4x1	UTSW	4	115127525	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTAAAGCACAGTGAAAGAGTGCC -3'
(R):5'- CTCCTTTGTCCTTACAGGGAACAGC -3'

Sequencing Primer
(F):5'- GGCTGGAACCTAATAGCTCTC -3'
(R):5'- GCTGGATGAGATGTCATACACC -3'

Posted On

2014-03-14