Mutagenetix > Incidental Mutation

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

Essential gene?

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

Stock #

R2208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114963518-114991276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114983791 bp (GRCm39)

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]

AlphaFold

Q6A152

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
Ahnak	T	C	19: 8,995,096 (GRCm39)	V5460A	probably benign	Het
Bco2	A	G	9: 50,444,755 (GRCm39)	V517A	probably damaging	Het
Brca2	T	A	5: 150,455,809 (GRCm39)	D183E	probably damaging	Het
Ccdc142	T	C	6: 83,084,941 (GRCm39)		probably null	Het
Ccdc39	A	G	3: 33,895,327 (GRCm39)	L34P	probably damaging	Het
Cdc42bpb	T	A	12: 111,302,463 (GRCm39)	H198L	probably damaging	Het
Cdc73	T	A	1: 143,485,120 (GRCm39)	E516V	probably damaging	Het
Cep170b	T	A	12: 112,705,419 (GRCm39)	L1059Q	probably benign	Het
Chrm1	T	C	19: 8,655,463 (GRCm39)	L56P	probably damaging	Het
Clec4d	T	A	6: 123,242,314 (GRCm39)	V22D	probably damaging	Het
Cplane1	T	A	15: 8,223,887 (GRCm39)	N883K	probably benign	Het
Cyp2c39	T	C	19: 39,549,405 (GRCm39)	Y308H	possibly damaging	Het
Cyp2d12	T	C	15: 82,441,137 (GRCm39)	L141P	probably damaging	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Enpp7	T	C	11: 118,879,588 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fitm2	T	A	2: 163,314,604 (GRCm39)		probably benign	Het
Gng10	T	A	4: 59,035,314 (GRCm39)	I26N	possibly damaging	Het
Gpr33	C	T	12: 52,070,236 (GRCm39)	V268I	probably benign	Het
Hmcn2	G	A	2: 31,270,309 (GRCm39)	C1182Y	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Krt36	C	T	11: 99,993,765 (GRCm39)	V358M	probably damaging	Het
Lmod3	T	C	6: 97,224,838 (GRCm39)	I328V	probably benign	Het
Lrp8	T	C	4: 107,712,987 (GRCm39)	V580A	probably damaging	Het
Masp2	T	C	4: 148,698,872 (GRCm39)	I651T	probably damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Msi2	A	T	11: 88,480,934 (GRCm39)	S118T	probably damaging	Het
Muc19	T	C	15: 91,755,747 (GRCm39)		noncoding transcript	Het
Nabp1	G	A	1: 51,516,773 (GRCm39)	R32*	probably null	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Nup88	T	C	11: 70,856,545 (GRCm39)	D196G	probably damaging	Het
Or11h4b	T	C	14: 50,919,020 (GRCm39)	I24V	probably benign	Het
Pax1	T	A	2: 147,207,722 (GRCm39)	I198N	probably damaging	Het
Pde3a	A	G	6: 141,196,073 (GRCm39)	E253G	probably damaging	Het
Phldb1	C	T	9: 44,607,428 (GRCm39)	R1192Q	probably damaging	Het
Pianp	C	A	6: 124,976,602 (GRCm39)	P137Q	probably damaging	Het
Prdm15	A	C	16: 97,600,464 (GRCm39)		probably null	Het
Ptprf	A	T	4: 118,126,369 (GRCm39)		probably benign	Het
Rfx7	A	G	9: 72,525,246 (GRCm39)	D812G	probably benign	Het
Rgs22	T	C	15: 36,050,378 (GRCm39)	T691A	probably benign	Het
Rundc3a	A	T	11: 102,292,914 (GRCm39)	S436C	probably damaging	Het
Sntb1	T	C	15: 55,769,714 (GRCm39)	T92A	possibly damaging	Het
Tars3	T	C	7: 65,332,596 (GRCm39)	S566P	probably damaging	Het
Tbc1d32	A	T	10: 56,026,888 (GRCm39)		probably null	Het
Tep1	T	C	14: 51,104,321 (GRCm39)	Q191R	probably benign	Het
Tmc2	C	A	2: 130,056,483 (GRCm39)		probably null	Het
Tns1	A	C	1: 74,118,399 (GRCm39)	I77S	probably damaging	Het
Trpd52l3	T	C	19: 29,981,646 (GRCm39)	W134R	probably damaging	Het
Vmn2r15	A	C	5: 109,445,309 (GRCm39)	N38K	possibly damaging	Het
Wdr90	A	T	17: 26,079,362 (GRCm39)	D257E	probably damaging	Het
Zbtb9	T	C	17: 27,193,098 (GRCm39)	C168R	possibly damaging	Het
Zfp1004	T	A	2: 150,035,065 (GRCm39)	V462E	probably benign	Het

Other mutations in Cyp4x1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Cyp4x1	APN	4	114,979,145 (GRCm39)	missense	probably benign	0.00
IGL00913:Cyp4x1	APN	4	114,970,060 (GRCm39)	missense	probably benign	0.19
IGL02990:Cyp4x1	APN	4	114,978,946 (GRCm39)	missense	probably benign	0.02
IGL03411:Cyp4x1	APN	4	114,965,982 (GRCm39)	missense	probably benign	0.05
R0607:Cyp4x1	UTSW	4	114,970,023 (GRCm39)	missense	probably damaging	1.00
R1148:Cyp4x1	UTSW	4	114,983,752 (GRCm39)	splice site	probably benign
R1148:Cyp4x1	UTSW	4	114,983,752 (GRCm39)	splice site	probably benign
R1426:Cyp4x1	UTSW	4	114,969,988 (GRCm39)	splice site	probably benign
R1484:Cyp4x1	UTSW	4	114,970,098 (GRCm39)	missense	probably damaging	1.00
R1675:Cyp4x1	UTSW	4	114,984,757 (GRCm39)	missense	possibly damaging	0.94
R1718:Cyp4x1	UTSW	4	114,968,867 (GRCm39)	missense	possibly damaging	0.75
R2325:Cyp4x1	UTSW	4	114,981,576 (GRCm39)	missense	probably benign	0.40
R4223:Cyp4x1	UTSW	4	114,970,077 (GRCm39)	missense	probably damaging	0.98
R4588:Cyp4x1	UTSW	4	114,965,994 (GRCm39)	missense	probably damaging	1.00
R4717:Cyp4x1	UTSW	4	114,978,902 (GRCm39)	missense	probably benign	0.02
R5522:Cyp4x1	UTSW	4	114,979,174 (GRCm39)	missense	probably damaging	1.00
R5880:Cyp4x1	UTSW	4	114,965,918 (GRCm39)	missense	possibly damaging	0.62
R5994:Cyp4x1	UTSW	4	114,979,142 (GRCm39)	missense	probably benign
R6103:Cyp4x1	UTSW	4	114,968,864 (GRCm39)	missense	probably damaging	1.00
R7733:Cyp4x1	UTSW	4	114,977,391 (GRCm39)	missense	possibly damaging	0.50
R8113:Cyp4x1	UTSW	4	114,967,263 (GRCm39)	missense	probably damaging	1.00
R8172:Cyp4x1	UTSW	4	114,968,874 (GRCm39)	missense	possibly damaging	0.94
R8366:Cyp4x1	UTSW	4	114,970,063 (GRCm39)	missense	probably benign	0.08
R8766:Cyp4x1	UTSW	4	114,967,262 (GRCm39)	missense	probably damaging	1.00
R9453:Cyp4x1	UTSW	4	114,991,069 (GRCm39)	missense	probably damaging	1.00
Z1177:Cyp4x1	UTSW	4	114,984,722 (GRCm39)	missense	probably damaging	1.00
Z1177:Cyp4x1	UTSW	4	114,967,300 (GRCm39)	missense	probably damaging	1.00

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