Mutagenetix > Incidental Mutation

Incidental Mutation 'R9453:Cyp4x1'

714382

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

Accession Numbers

Essential gene?

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

Stock #

R9453 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114963518-114991276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114991069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 36 (R36G)

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: R36G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059545
Gene: ENSMUSG00000047155
AA Change: R36G

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: R10G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102155
Gene: ENSMUSG00000047155
AA Change: R10G

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: 98.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,771,054 (GRCm39)	A179T	probably benign	Het
Abca6	A	G	11: 110,138,090 (GRCm39)		probably null	Het
Agps	A	C	2: 75,662,585 (GRCm39)	D10A	probably damaging	Het
Atad2b	T	A	12: 5,081,578 (GRCm39)	D1162E	probably benign	Het
Atp13a4	T	C	16: 29,239,659 (GRCm39)	K851R	unknown	Het
Cdh15	A	G	8: 123,586,029 (GRCm39)	D136G	probably damaging	Het
Cdk5rap1	A	T	2: 154,190,585 (GRCm39)	Y459N	probably damaging	Het
Cep192	A	T	18: 67,989,354 (GRCm39)	K1834*	probably null	Het
Cfap221	C	T	1: 119,853,361 (GRCm39)	V778I	probably benign	Het
Chpf	G	A	1: 75,452,854 (GRCm39)	T362I	probably benign	Het
D16Ertd472e	T	A	16: 78,342,052 (GRCm39)	Q276L	probably damaging	Het
Dapk3	T	C	10: 81,025,825 (GRCm39)	Y39H	probably damaging	Het
Eefsec	T	C	6: 88,353,337 (GRCm39)	T111A	probably damaging	Het
Ehbp1l1	G	A	19: 5,758,371 (GRCm39)	R1714C	unknown	Het
Flcn	A	G	11: 59,694,609 (GRCm39)	V121A	probably damaging	Het
Gaa	G	T	11: 119,165,958 (GRCm39)	D423Y	probably damaging	Het
Gaa	A	C	11: 119,165,959 (GRCm39)	D423A	probably benign	Het
Garnl3	A	G	2: 32,893,881 (GRCm39)	I694T	probably damaging	Het
Gm5114	T	A	7: 39,058,242 (GRCm39)	Q459L	probably damaging	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hmmr	A	G	11: 40,612,655 (GRCm39)		probably null	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lmnb1	G	A	18: 56,873,114 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,288,832 (GRCm39)	Y3678C	probably damaging	Het
Map7	T	C	10: 20,153,981 (GRCm39)	V699A	unknown	Het
Mme	G	T	3: 63,272,306 (GRCm39)	G635V	possibly damaging	Het
Mroh8	A	T	2: 157,071,948 (GRCm39)	I519N	possibly damaging	Het
Mrps11	T	C	7: 78,442,390 (GRCm39)	S157P	probably damaging	Het
Muc16	T	C	9: 18,572,061 (GRCm39)	T153A	unknown	Het
Nlrp1b	A	G	11: 71,072,913 (GRCm39)	V310A	probably damaging	Het
Oas1f	T	C	5: 120,993,592 (GRCm39)	V268A	probably damaging	Het
Or56a3b	T	A	7: 104,770,817 (GRCm39)	I51N		Het
Or6y1	A	T	1: 174,276,233 (GRCm39)	T15S	probably benign	Het
Padi4	A	G	4: 140,479,950 (GRCm39)	L401P	probably benign	Het
Pdzd7	A	G	19: 45,016,056 (GRCm39)	*1022Q	probably null	Het
Plcl2	C	A	17: 50,915,391 (GRCm39)	T800K	probably damaging	Het
Polr1has	TCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCAC	17: 37,275,939 (GRCm39)		probably benign	Het
Ppp1r37	A	T	7: 19,295,796 (GRCm39)	F54I	probably damaging	Het
Prl7c1	T	A	13: 27,957,870 (GRCm39)	Y190F	probably benign	Het
Prpf8	A	G	11: 75,397,212 (GRCm39)	E2015G	possibly damaging	Het
Rpap3	A	G	15: 97,579,641 (GRCm39)	V457A		Het
Samd13	A	T	3: 146,368,510 (GRCm39)	D27E		Het
Sephs1	A	T	2: 4,889,174 (GRCm39)		probably benign	Het
Slc22a20	T	G	19: 6,023,024 (GRCm39)	Q373P	probably damaging	Het
Sp100	A	G	1: 85,629,179 (GRCm39)	*483W	probably null	Het
Src	A	T	2: 157,307,852 (GRCm39)	T254S	probably damaging	Het
St6galnac2	A	T	11: 116,569,344 (GRCm39)	M301K	possibly damaging	Het
Tnfsf13	A	T	11: 69,576,010 (GRCm39)	W26R	probably damaging	Het
Trbv28	T	A	6: 41,248,687 (GRCm39)	D72E	probably benign	Het
Trim75	T	A	8: 65,436,561 (GRCm39)		probably benign	Het
Ttc39d	T	C	17: 80,524,754 (GRCm39)	F471S	probably damaging	Het
Vav1	C	T	17: 57,613,191 (GRCm39)	P621L	probably benign	Het
Vezt	A	T	10: 93,832,856 (GRCm39)	L185*	probably null	Het
Vmn2r42	T	C	7: 8,187,295 (GRCm39)	I826V	probably benign	Het
Vmn2r67	G	A	7: 84,800,697 (GRCm39)	T413M	probably benign	Het
Vnn1	G	A	10: 23,776,723 (GRCm39)	C358Y	probably damaging	Het
Wdr83os	G	C	8: 85,808,638 (GRCm39)	W106C	probably damaging	Het
Wdr95	T	C	5: 149,475,917 (GRCm39)	S72P	probably damaging	Het
Zfp423	T	A	8: 88,508,251 (GRCm39)	T698S	probably damaging	Het
Zfp521	G	A	18: 13,977,293 (GRCm39)	T1040I	probably damaging	Het
Zfp563	T	A	17: 33,308,565 (GRCm39)	V9E		Het
Zmym2	T	A	14: 57,180,770 (GRCm39)	V894E	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
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
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'- GTCCTAGAATAGCTCAAAACTGC -3'
(R):5'- TCAGTTACACCAGGGCTCAC -3'

Sequencing Primer
(F):5'- CTAGAATAGCTCAAAACTGCATGGG -3'
(R):5'- TGGTTCACGCCAGCTCC -3'

Posted On

2022-06-15