Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00913:Cyp4x1'

27228

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp4x1

Ensembl Gene

ENSMUSG00000047155

Gene Name

cytochrome P450, family 4, subfamily x, polypeptide 1

Synonyms

Cyp4a28-ps

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL00913

Quality Score

Status

Chromosome

Chromosomal Location

115106323-115134281 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115112863 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 356 (I356F)

Ref Sequence

ENSEMBL: ENSMUSP00000102155 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000051400
AA Change: I382F

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000059545
Gene: ENSMUSG00000047155
AA Change: I382F

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
AA Change: I356F

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102155
Gene: ENSMUSG00000047155
AA Change: I356F

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

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	A	G	17: 42,666,902	S517P	possibly damaging	Het
Arl4c	T	C	1: 88,701,384	D94G	probably damaging	Het
Bag5	T	C	12: 111,711,332	E19G	probably damaging	Het
Carf	T	A	1: 60,147,955	D537E	probably benign	Het
Cd177	C	A	7: 24,756,195	D301Y	probably damaging	Het
Csmd1	C	T	8: 16,071,287	V1799I	probably benign	Het
Elmsan1	T	A	12: 84,172,858	I441L	probably benign	Het
F5	A	T	1: 164,204,896	H1804L	probably damaging	Het
Fras1	G	T	5: 96,695,076	G1718C	probably damaging	Het
Ganc	T	C	2: 120,439,452		probably benign	Het
Gm9992	A	T	17: 7,369,739	V130D	probably damaging	Het
Hs3st5	A	G	10: 36,832,850	D127G	probably damaging	Het
Inpp5a	A	G	7: 139,516,721	D154G	probably benign	Het
Kif16b	T	A	2: 142,704,007	R1134*	probably null	Het
Lrrc66	C	T	5: 73,608,156	A515T	possibly damaging	Het
Map3k10	C	T	7: 27,663,215		probably benign	Het
Mrpl12	G	A	11: 120,485,376	D71N	possibly damaging	Het
Nfix	A	T	8: 84,726,477	V316E	probably damaging	Het
Nop2	A	G	6: 125,139,821	Y346C	probably damaging	Het
Nrbp1	A	G	5: 31,251,059	E513G	possibly damaging	Het
Ogfrl1	T	C	1: 23,370,090	I352V	probably benign	Het
Olfr1351	A	G	10: 79,018,251	T310A	probably benign	Het
Olfr912	T	A	9: 38,581,376	V33E	probably damaging	Het
Oxr1	G	A	15: 41,820,143	V15I	possibly damaging	Het
Pik3r6	T	G	11: 68,551,321	F697C	probably damaging	Het
Ptk2	A	G	15: 73,295,389		probably benign	Het
Rnft2	G	A	5: 118,201,215	T380M	probably damaging	Het
Scel	A	G	14: 103,581,809	N346S	probably benign	Het
Sema4a	T	A	3: 88,449,810	T153S	probably damaging	Het
Serinc2	A	T	4: 130,264,408	L82Q	possibly damaging	Het
Sin3a	A	G	9: 57,098,118	T392A	probably benign	Het
Slc25a38	T	A	9: 120,120,307	Y108*	probably null	Het
Tmc8	G	A	11: 117,786,504	G317R	probably damaging	Het
Trpc3	A	G	3: 36,640,639	V722A	possibly 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
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
R1426:Cyp4x1	UTSW	4	115112791	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
R8766:Cyp4x1	UTSW	4	115110065	missense	probably damaging	1.00
Z1177:Cyp4x1	UTSW	4	115110103	missense	probably damaging	1.00
Z1177:Cyp4x1	UTSW	4	115127525	missense	probably damaging	1.00

Posted On

2013-04-17