Mutagenetix > Incidental Mutations

Incidental Mutation 'R2208:Cyp4x1'

236767

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

040210-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R2208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115106323-115134281 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 115126594 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 85 (Q85K)

Ref Sequence

ENSEMBL: ENSMUSP00000102155 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000051400
AA Change: Q111K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000059545
Gene: ENSMUSG00000047155
AA Change: Q111K

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: Q85K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102155
Gene: ENSMUSG00000047155
AA Change: Q85K

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

Meta Mutation Damage Score

0.0638

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (51/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,194,403	N883K	probably benign	Het
Ahnak	T	C	19: 9,017,732	V5460A	probably benign	Het
Bco2	A	G	9: 50,533,455	V517A	probably damaging	Het
Brca2	T	A	5: 150,532,344	D183E	probably damaging	Het
Ccdc142	T	C	6: 83,107,960		probably null	Het
Ccdc39	A	G	3: 33,841,178	L34P	probably damaging	Het
Cdc42bpb	T	A	12: 111,336,029	H198L	probably damaging	Het
Cdc73	T	A	1: 143,609,382	E516V	probably damaging	Het
Cep170b	T	A	12: 112,738,985	L1059Q	probably benign	Het
Chrm1	T	C	19: 8,678,099	L56P	probably damaging	Het
Clec4d	T	A	6: 123,265,355	V22D	probably damaging	Het
Cyp2c39	T	C	19: 39,560,961	Y308H	possibly damaging	Het
Cyp2d12	T	C	15: 82,556,936	L141P	probably damaging	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Enpp7	T	C	11: 118,988,762		probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fitm2	T	A	2: 163,472,684		probably benign	Het
Gm14139	T	A	2: 150,193,145	V462E	probably benign	Het
Gng10	T	A	4: 59,035,314	I26N	possibly damaging	Het
Gpr33	C	T	12: 52,023,453	V268I	probably benign	Het
Hmcn2	G	A	2: 31,380,297	C1182Y	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Krt36	C	T	11: 100,102,939	V358M	probably damaging	Het
Lmod3	T	C	6: 97,247,877	I328V	probably benign	Het
Lrp8	T	C	4: 107,855,790	V580A	probably damaging	Het
Masp2	T	C	4: 148,614,415	I651T	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Msi2	A	T	11: 88,590,108	S118T	probably damaging	Het
Muc19	T	C	15: 91,871,549		noncoding transcript	Het
Nabp1	G	A	1: 51,477,614	R32*	probably null	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Nup88	T	C	11: 70,965,719	D196G	probably damaging	Het
Olfr747	T	C	14: 50,681,563	I24V	probably benign	Het
Pax1	T	A	2: 147,365,802	I198N	probably damaging	Het
Pde3a	A	G	6: 141,250,347	E253G	probably damaging	Het
Phldb1	C	T	9: 44,696,131	R1192Q	probably damaging	Het
Pianp	C	A	6: 124,999,639	P137Q	probably damaging	Het
Prdm15	A	C	16: 97,799,264		probably null	Het
Ptprf	A	T	4: 118,269,172		probably benign	Het
Rfx7	A	G	9: 72,617,964	D812G	probably benign	Het
Rgs22	T	C	15: 36,050,232	T691A	probably benign	Het
Rundc3a	A	T	11: 102,402,088	S436C	probably damaging	Het
Sntb1	T	C	15: 55,906,318	T92A	possibly damaging	Het
Tarsl2	T	C	7: 65,682,848	S566P	probably damaging	Het
Tbc1d32	A	T	10: 56,150,792		probably null	Het
Tep1	T	C	14: 50,866,864	Q191R	probably benign	Het
Tmc2	C	A	2: 130,214,563		probably null	Het
Tns1	A	C	1: 74,079,240	I77S	probably damaging	Het
Trpd52l3	T	C	19: 30,004,246	W134R	probably damaging	Het
Vmn2r15	A	C	5: 109,297,443	N38K	possibly damaging	Het
Wdr90	A	T	17: 25,860,388	D257E	probably damaging	Het
Zbtb9	T	C	17: 26,974,124	C168R	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTTCCTCGGGATTGTT -3'
(R):5'- GCATGCTGAAGGGAATAGCA -3'

Sequencing Primer
(F):5'- CCTCGGGATTGTTCTCTTCC -3'
(R):5'- CCAGAGAGAATATGAGCTTAGGTCC -3'

Posted On

2014-10-02