Mutagenetix > Incidental Mutation

Incidental Mutation 'R4223:Cyp4x1'

319445

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

041043-MU

Accession Numbers

Essential gene?

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

Stock #

R4223 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114963518-114991276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114970077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 350 (I350N)

Ref Sequence

ENSEMBL: ENSMUSP00000102155 (fasta)

Gene Model

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

AlphaFold

Q6A152

Predicted Effect

probably damaging
Transcript: ENSMUST00000051400
AA Change: I376N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059545
Gene: ENSMUSG00000047155
AA Change: I376N

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: I350N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102155
Gene: ENSMUSG00000047155
AA Change: I350N

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

0.5593

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (65/66)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	G	10: 78,930,286 (GRCm39)	Y43H	probably damaging	Het
Aamp	A	T	1: 74,320,285 (GRCm39)	L348Q	probably damaging	Het
Abcb1b	T	A	5: 8,863,722 (GRCm39)	L226M	probably damaging	Het
Acap1	A	G	11: 69,774,511 (GRCm39)	S396P	probably damaging	Het
Aif1l	A	T	2: 31,852,251 (GRCm39)	S40C	probably damaging	Het
Atp1a3	T	C	7: 24,700,355 (GRCm39)	D48G	probably benign	Het
Bhmt-ps1	T	A	4: 26,369,352 (GRCm39)		noncoding transcript	Het
Ccdc116	A	G	16: 16,964,809 (GRCm39)		probably benign	Het
Cmtm5	T	A	14: 55,175,376 (GRCm39)	C51S	probably damaging	Het
Cyb5rl	T	C	4: 106,938,185 (GRCm39)	V214A	probably damaging	Het
Efcab6	C	A	15: 83,751,309 (GRCm39)	D1498Y	probably damaging	Het
Eif3c	C	G	7: 126,165,471 (GRCm39)		probably benign	Het
Epha3	G	A	16: 63,403,902 (GRCm39)	S733L	probably damaging	Het
Esyt1	T	C	10: 128,356,517 (GRCm39)	Y376C	probably damaging	Het
Galnt1	T	C	18: 24,371,413 (GRCm39)	F4L	probably benign	Het
Glis1	T	C	4: 107,425,042 (GRCm39)	S218P	probably benign	Het
Gm15854	A	T	6: 129,949,426 (GRCm39)		noncoding transcript	Het
Gm29125	T	C	1: 80,361,236 (GRCm39)		noncoding transcript	Het
Inpp5a	T	C	7: 139,138,821 (GRCm39)	V263A	possibly damaging	Het
Itgb1	T	G	8: 129,440,624 (GRCm39)	I255S	probably damaging	Het
Kcp	A	G	6: 29,482,257 (GRCm39)	L1547P	possibly damaging	Het
Kifc3	C	A	8: 95,836,610 (GRCm39)	L72F	probably damaging	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Lrrc55	G	A	2: 85,026,460 (GRCm39)	A188V	possibly damaging	Het
Ly6i	A	T	15: 74,854,884 (GRCm39)	S9T	probably benign	Het
Mfsd14b	C	T	13: 65,214,422 (GRCm39)		probably benign	Het
Nipsnap3a	T	A	4: 52,997,251 (GRCm39)	D172E	probably benign	Het
Or4g7	A	T	2: 111,309,489 (GRCm39)	Y120F	probably benign	Het
Oxgr1	T	C	14: 120,260,025 (GRCm39)	K61E	probably damaging	Het
Pak2	G	T	16: 31,871,028 (GRCm39)	N51K	probably benign	Het
Pcdhgb7	T	A	18: 37,886,856 (GRCm39)	D675E	probably benign	Het
Pcolce	T	A	5: 137,603,389 (GRCm39)		probably benign	Het
Phc3	A	T	3: 30,990,968 (GRCm39)	S383R	probably damaging	Het
Phf1	C	T	17: 27,156,474 (GRCm39)	R539*	probably null	Het
Plch1	G	A	3: 63,609,321 (GRCm39)	T48I	probably damaging	Het
Plekha2	A	G	8: 25,533,036 (GRCm39)	S312P	probably damaging	Het
Pnpla7	T	C	2: 24,872,126 (GRCm39)	F69L	possibly damaging	Het
Ppcdc	T	A	9: 57,321,998 (GRCm39)	M181L	possibly damaging	Het
Ptbp1	T	C	10: 79,695,047 (GRCm39)	I125T	probably benign	Het
Rfc3	C	A	5: 151,574,637 (GRCm39)		probably benign	Het
Rpa2	T	G	4: 132,504,055 (GRCm39)	I69S	probably damaging	Het
Rtn4	G	A	11: 29,656,856 (GRCm39)	V337I	probably benign	Het
Rttn	T	C	18: 89,113,708 (GRCm39)	L1709P	probably damaging	Het
Sh2b2	G	A	5: 136,247,907 (GRCm39)	P548L	possibly damaging	Het
Slc12a2	T	A	18: 58,043,328 (GRCm39)	S591T	probably damaging	Het
Slc25a45	A	T	19: 5,930,146 (GRCm39)	I39F	probably damaging	Het
Slc38a9	G	A	13: 112,850,782 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,658,286 (GRCm39)	V603A	probably damaging	Het
Snx19	T	G	9: 30,339,744 (GRCm39)	V294G	possibly damaging	Het
Sp140l2	T	C	1: 85,090,278 (GRCm39)	D83G	probably damaging	Het
Sspo	G	T	6: 48,428,091 (GRCm39)	V313L	possibly damaging	Het
Stard9	A	G	2: 120,495,472 (GRCm39)	T116A	possibly damaging	Het
Strn3	C	T	12: 51,674,638 (GRCm39)	R382Q	probably damaging	Het
Trim43b	T	A	9: 88,972,692 (GRCm39)	Q154L	probably benign	Het
Trps1	A	G	15: 50,710,044 (GRCm39)	V98A	probably benign	Het
Vmn1r220	T	A	13: 23,368,148 (GRCm39)	M183L	probably benign	Het
Vmn2r60	A	T	7: 41,765,952 (GRCm39)	T20S	probably benign	Het
Wdr81	T	C	11: 75,338,828 (GRCm39)	T1444A	probably benign	Het
Xirp2	A	T	2: 67,346,837 (GRCm39)	E3026V	possibly 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
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'- CTTAGGAAGGCCACTGTAGCTC -3'
(R):5'- TGCTTTATCCCAACAGTAATGC -3'

Sequencing Primer
(F):5'- GGCCACTGTAGCTCACATATGATTG -3'
(R):5'- TTATCCCAACAGTAATGCTTACCAGG -3'

Posted On

2015-06-10