Mutagenetix > Incidental Mutation

Incidental Mutation 'R8113:Cyp4x1'

630989

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

067542-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114963518-114991276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114967263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 438 (H438Y)

Ref Sequence

ENSEMBL: ENSMUSP00000059545 (fasta)

Gene Model

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

AlphaFold

Q6A152

Predicted Effect

probably damaging
Transcript: ENSMUST00000051400
AA Change: H438Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059545
Gene: ENSMUSG00000047155
AA Change: H438Y

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 damaging
Transcript: ENSMUST00000106545
AA Change: H412Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102155
Gene: ENSMUSG00000047155
AA Change: H412Y

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (72/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	T	C	8: 89,048,431 (GRCm39)	S625P	probably damaging	Het
Agpat1	T	C	17: 34,830,586 (GRCm39)	V170A	probably damaging	Het
Alg9	C	T	9: 50,720,080 (GRCm39)	Q519*	probably null	Het
Apol8	C	T	15: 77,634,336 (GRCm39)	R80H	probably benign	Het
Arhgap25	G	T	6: 87,465,287 (GRCm39)	S118*	probably null	Het
Arhgap30	T	A	1: 171,225,086 (GRCm39)	Y47*	probably null	Het
Arhgap42	C	T	9: 9,011,434 (GRCm39)	D451N	probably damaging	Het
Cabp2	T	A	19: 4,135,582 (GRCm39)	F91I	probably damaging	Het
Ccdc30	T	C	4: 119,230,943 (GRCm39)	E108G	probably benign	Het
Cfap99	T	C	5: 34,458,763 (GRCm39)	S53P	probably damaging	Het
Clec5a	C	T	6: 40,556,361 (GRCm39)	R135H	possibly damaging	Het
Cops8	T	G	1: 90,531,325 (GRCm39)	D18E	probably benign	Het
Cped1	A	T	6: 22,233,480 (GRCm39)	M779L	possibly damaging	Het
Disc1	A	T	8: 125,815,014 (GRCm39)	T293S	probably benign	Het
Ercc1	T	C	7: 19,084,102 (GRCm39)	L113S	probably damaging	Het
Ermp1	G	T	19: 29,593,196 (GRCm39)	N765K	probably benign	Het
Fam83c	A	G	2: 155,676,740 (GRCm39)	I10T	probably benign	Het
Farp1	T	C	14: 121,513,008 (GRCm39)	V788A	probably benign	Het
Fbn1	C	G	2: 125,319,489 (GRCm39)	G92R	probably damaging	Het
Fsd1	T	A	17: 56,302,881 (GRCm39)	M328K	probably benign	Het
Fzd3	C	A	14: 65,440,262 (GRCm39)	S636I	probably benign	Het
Gapvd1	A	G	2: 34,594,330 (GRCm39)	S886P	probably damaging	Het
Gatad2b	T	A	3: 90,249,029 (GRCm39)	D22E	probably benign	Het
Gm7168	A	T	17: 14,169,238 (GRCm39)	K202*	probably null	Het
Gmps	T	C	3: 63,887,690 (GRCm39)	I54T	probably damaging	Het
Gp6	A	G	7: 4,397,114 (GRCm39)	I107T	probably benign	Het
Gpat2	T	C	2: 127,273,267 (GRCm39)	V217A	possibly damaging	Het
Hdlbp	T	A	1: 93,344,917 (GRCm39)	I863F	probably damaging	Het
Hmcn1	A	C	1: 150,624,841 (GRCm39)	I1021M	possibly damaging	Het
Igkv6-14	C	T	6: 70,412,087 (GRCm39)	A66T	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Iqch	A	G	9: 63,361,855 (GRCm39)	I925T	probably benign	Het
Kcnt1	A	G	2: 25,791,223 (GRCm39)	E522G	possibly damaging	Het
Kremen2	C	G	17: 23,962,776 (GRCm39)	E103D	probably damaging	Het
Lig4	G	T	8: 10,023,485 (GRCm39)	N98K	probably benign	Het
Lrrc3b	T	G	14: 15,358,232 (GRCm38)	I125L	probably benign	Het
Lrrc4	T	C	6: 28,829,902 (GRCm39)	D148G	probably damaging	Het
Lrsam1	A	G	2: 32,837,901 (GRCm39)	Y218H	possibly damaging	Het
Mmrn2	G	A	14: 34,119,593 (GRCm39)	V191I	probably benign	Het
Nadk	T	A	4: 155,655,127 (GRCm39)		probably null	Het
Napb	C	A	2: 148,551,351 (GRCm39)	A61S	possibly damaging	Het
Ncan	T	A	8: 70,561,221 (GRCm39)	D582V	possibly damaging	Het
Ncl	T	C	1: 86,284,364 (GRCm39)	D244G	possibly damaging	Het
Nlrp14	A	G	7: 106,791,715 (GRCm39)	N800S	possibly damaging	Het
Nlrp9b	C	T	7: 19,753,260 (GRCm39)	T55M	probably benign	Het
Nobox	G	A	6: 43,282,951 (GRCm39)	T228I	probably benign	Het
Npffr1	C	A	10: 61,449,750 (GRCm39)	P8H	possibly damaging	Het
Nrg2	T	C	18: 36,154,156 (GRCm39)	Y587C	probably damaging	Het
Nsd1	T	G	13: 55,393,434 (GRCm39)	V448G	probably benign	Het
Or2w1	T	A	13: 21,317,371 (GRCm39)	V142D	probably benign	Het
Or5e1	G	T	7: 108,354,438 (GRCm39)	C125F	probably damaging	Het
Or8k41	T	G	2: 86,313,412 (GRCm39)	I225L	probably damaging	Het
Or9g20	A	G	2: 85,630,011 (GRCm39)	L201P	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Ppp5c	T	C	7: 16,742,932 (GRCm39)	T229A	probably benign	Het
Pramel51	T	C	12: 88,143,850 (GRCm39)	Y329C	probably benign	Het
Prr5	C	T	15: 84,577,993 (GRCm39)	R101C	probably damaging	Het
Psg22	T	C	7: 18,456,987 (GRCm39)	M290T	probably benign	Het
Pzp	C	T	6: 128,490,694 (GRCm39)		probably null	Het
Rapgef6	T	C	11: 54,516,784 (GRCm39)	V347A	probably benign	Het
Rttn	A	T	18: 89,029,040 (GRCm39)	H586L	probably damaging	Het
Sema3f	A	T	9: 107,565,275 (GRCm39)	I259K	possibly damaging	Het
Sgpp1	A	T	12: 75,763,374 (GRCm39)	L269Q	probably damaging	Het
Slc22a8	A	C	19: 8,582,903 (GRCm39)	I195L	probably benign	Het
Slc35a5	T	C	16: 44,962,551 (GRCm39)	T425A	unknown	Het
Spata31e1	G	A	13: 49,939,548 (GRCm39)	R721C	probably benign	Het
Stard13	G	A	5: 150,986,970 (GRCm39)	T180I	probably damaging	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Svil	A	T	18: 5,062,385 (GRCm39)	T902S	probably damaging	Het
Tnfaip8l3	T	A	9: 53,934,421 (GRCm39)	R185W	probably damaging	Het
Ttn	A	T	2: 76,590,393 (GRCm39)	D21105E	probably benign	Het
Vmn2r109	T	A	17: 20,774,729 (GRCm39)	M209L	probably benign	Het
Vmn2r125	A	G	4: 156,703,642 (GRCm39)	H340R	probably damaging	Het
Zfp946	T	C	17: 22,674,481 (GRCm39)	C412R	probably damaging	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
R2208:Cyp4x1	UTSW	4	114,983,791 (GRCm39)	missense	probably benign	0.01
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
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'- AGCTGGAGTCACTCACAAC -3'
(R):5'- TTCTTAGCATGTGGCCAGCAG -3'

Sequencing Primer
(F):5'- GAGCCCGTGAGCAATATTTATACTGC -3'
(R):5'- GGCCAGCAGAATGTTTTAAACTGC -3'

Posted On

2020-06-30