Mutagenetix > Incidental Mutations

Incidental Mutation 'R4569:Cyp4v3'

342007

Institutional Source

Beutler Lab

Gene Symbol

Cyp4v3

Ensembl Gene

ENSMUSG00000079057

Gene Name

cytochrome P450, family 4, subfamily v, polypeptide 3

Synonyms

MMRRC Submission

041793-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45304944-45333216 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45306992 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 508 (R508W)

Ref Sequence

ENSEMBL: ENSMUSP00000092966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026907] [ENSMUST00000095328]

Predicted Effect

unknown
Transcript: ENSMUST00000026907
AA Change: R68W

SMART Domains

Protein: ENSMUSP00000026907
Gene: ENSMUSG00000109764
AA Change: R68W

Domain	Start	End	E-Value	Type
APPLE	21	104	1.96e-40	SMART
APPLE	111	194	3.93e-40	SMART
APPLE	201	284	2.65e-37	SMART
APPLE	292	375	1.34e-33	SMART
Tryp_SPc	390	621	2.22e-99	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000095328
AA Change: R508W

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

SMART Domains

Protein: ENSMUSP00000092966
Gene: ENSMUSG00000079057
AA Change: R508W

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:p450	51	517	2.7e-123	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000116473
AA Change: R68W

SMART Domains

Protein: ENSMUSP00000112174
Gene: ENSMUSG00000031640
AA Change: R68W

Domain	Start	End	E-Value	Type
APPLE	21	104	1.96e-40	SMART
APPLE	111	194	3.93e-40	SMART
APPLE	201	284	2.65e-37	SMART
APPLE	292	375	1.34e-33	SMART
Tryp_SPc	390	621	2.22e-99	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (87/88)

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 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit corneoretinal crystal accumulation and systemic dyslipidemia characteristic of Bietti Crystalline Dystrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,625,838	T322A	probably benign	Het
Abhd13	C	T	8: 9,988,071	P223S	possibly damaging	Het
Adgra3	T	A	5: 49,960,563	L1214F	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankrd13a	C	A	5: 114,789,312	P120Q	probably damaging	Het
Apbb1ip	A	G	2: 22,849,544	Y277C	probably damaging	Het
Arfgap1	T	C	2: 180,976,373		probably benign	Het
Arid2	T	A	15: 96,392,462	V1746D	probably damaging	Het
C1qtnf7	T	A	5: 43,609,207	N49K	possibly damaging	Het
Cacnb2	A	T	2: 14,986,000	D587V	possibly damaging	Het
Ccar2	A	T	14: 70,151,910		probably null	Het
Cdk2ap2	T	C	19: 4,097,879	F49L	possibly damaging	Het
Cdon	A	T	9: 35,476,969	I747F	probably damaging	Het
Cyp19a1	G	A	9: 54,193,323	P27S	probably benign	Het
Dclk1	T	C	3: 55,247,410	L87P	probably damaging	Het
Ddx41	G	A	13: 55,536,021	R66C	possibly damaging	Het
Dmxl1	T	C	18: 49,852,360	Y225H	probably damaging	Het
Dnah7a	G	A	1: 53,411,659	P3871S	probably benign	Het
Dnhd1	A	G	7: 105,657,166		probably null	Het
Dph1	A	T	11: 75,178,895		probably benign	Het
Egln2	A	G	7: 27,159,583	I382T	probably damaging	Het
Enpp3	A	G	10: 24,776,882	Y726H	probably damaging	Het
Fbxo32	A	G	15: 58,181,477	F353L	probably damaging	Het
Fchsd2	G	A	7: 101,277,602	G657D	possibly damaging	Het
Fer1l4	T	A	2: 156,036,639	E44V	possibly damaging	Het
Gjb2	C	T	14: 57,100,305	V149I	probably benign	Het
Glipr1l1	A	G	10: 112,062,412	M141V	probably benign	Het
Gnaq	T	C	19: 16,335,006	S211P	probably damaging	Het
Gnl1	A	G	17: 35,988,250	R527G	probably benign	Het
Gns	A	G	10: 121,381,178	Q286R	probably benign	Het
Gon4l	T	C	3: 88,910,090		probably benign	Het
Gpr107	T	C	2: 31,207,665		probably benign	Het
Gprasp1	C	T	X: 135,802,843	R1262C	probably damaging	Het
Gtf2ird1	A	T	5: 134,411,003	D124E	probably damaging	Het
Hbp1	T	A	12: 31,950,232		probably benign	Het
Hrnr	C	T	3: 93,323,568	T371I	unknown	Het
Ints2	A	G	11: 86,256,198	C41R	probably damaging	Het
Jhy	A	G	9: 40,911,093	I583T	probably benign	Het
Jph4	G	T	14: 55,115,046	R77S	probably damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Klhl12	A	T	1: 134,485,769	I331F	probably benign	Het
Map4k4	G	A	1: 40,000,538	R30Q	probably damaging	Het
Mettl11b	T	A	1: 163,703,017	*284C	probably null	Het
Mgst1	C	A	6: 138,156,215	T176K	probably damaging	Het
Negr1	C	A	3: 157,208,376		probably benign	Het
Nrg1	C	T	8: 31,917,774	V144I	probably benign	Het
Olfr51	T	C	11: 51,007,554	I194T	possibly damaging	Het
Otog	A	G	7: 46,310,147	D720G	probably damaging	Het
Pex11b	A	T	3: 96,644,014		probably benign	Het
Phtf2	T	C	5: 20,789,595		probably benign	Het
Ppip5k1	C	T	2: 121,343,563	R359Q	possibly damaging	Het
Prickle2	T	C	6: 92,422,342	I185V	probably benign	Het
Prrc2a	G	A	17: 35,158,497	P562S	unknown	Het
Rdx	A	G	9: 52,068,841	I245V	probably benign	Het
Rem2	T	C	14: 54,477,659	S98P	probably damaging	Het
Rhob	T	G	12: 8,499,373	D87A	probably damaging	Het
Ros1	T	A	10: 52,163,994	E300D	probably damaging	Het
Sbf2	A	G	7: 110,348,853		probably null	Het
Sipa1l3	G	T	7: 29,325,862	P619Q	probably damaging	Het
Snupn	A	G	9: 56,978,062	E217G	probably benign	Het
Ston2	T	A	12: 91,639,722	*896C	probably null	Het
Stradb	C	T	1: 58,979,958	R13*	probably null	Het
Tbx21	G	A	11: 97,114,755	A128V	probably benign	Het
Tep1	A	T	14: 50,824,740	C2552S	probably benign	Het
Tgif1	A	T	17: 70,844,917	V233E	possibly damaging	Het
Trim31	A	T	17: 36,898,741	I130L	probably benign	Het
Trrap	C	T	5: 144,792,118	T614I	probably benign	Het
Ttn	C	A	2: 76,936,414	V3107F	probably damaging	Het
Txnrd2	T	G	16: 18,456,206	D322E	probably benign	Het
Unc45b	T	A	11: 82,936,489		probably null	Het
Usp43	A	T	11: 67,875,352	L744*	probably null	Het
Usp43	C	T	11: 67,898,962	C252Y	probably damaging	Het
Vmn2r71	A	C	7: 85,624,194	K739Q	possibly damaging	Het
Vps16	C	T	2: 130,442,204	T653M	probably benign	Het
Wdr83os	T	A	8: 85,081,866	S82R	probably damaging	Het
Xpo6	T	A	7: 126,128,255	L526F	probably damaging	Het
Zfhx4	G	A	3: 5,401,834	V2351I	probably benign	Het
Zfp558	A	T	9: 18,456,503	C330S	possibly damaging	Het

Other mutations in Cyp4v3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Cyp4v3	APN	8	45307003	missense	probably benign	0.04
IGL00503:Cyp4v3	APN	8	45307021	missense	probably damaging	0.98
IGL00757:Cyp4v3	APN	8	45320615	missense	probably damaging	0.98
IGL02375:Cyp4v3	APN	8	45308374	splice site	probably null
IGL02565:Cyp4v3	APN	8	45320637	missense	possibly damaging	0.63
IGL02881:Cyp4v3	APN	8	45308716	missense	probably damaging	1.00
R0745:Cyp4v3	UTSW	8	45308651	unclassified	probably benign
R1818:Cyp4v3	UTSW	8	45315636	missense	possibly damaging	0.77
R1819:Cyp4v3	UTSW	8	45315636	missense	possibly damaging	0.77
R1902:Cyp4v3	UTSW	8	45306952	missense	probably benign	0.00
R2426:Cyp4v3	UTSW	8	45317776	missense	probably benign
R3747:Cyp4v3	UTSW	8	45315708	nonsense	probably null
R3748:Cyp4v3	UTSW	8	45315708	nonsense	probably null
R3750:Cyp4v3	UTSW	8	45315708	nonsense	probably null
R4289:Cyp4v3	UTSW	8	45328223	missense	possibly damaging	0.46
R4960:Cyp4v3	UTSW	8	45320637	missense	possibly damaging	0.63
R5260:Cyp4v3	UTSW	8	45306980	missense	probably damaging	1.00
R5479:Cyp4v3	UTSW	8	45310206	missense	probably benign	0.00
R5667:Cyp4v3	UTSW	8	45308535	missense	possibly damaging	0.94
R5940:Cyp4v3	UTSW	8	45321784	missense	probably damaging	1.00
R6102:Cyp4v3	UTSW	8	45320160	missense	probably damaging	1.00
R6470:Cyp4v3	UTSW	8	45317736	nonsense	probably null
R6592:Cyp4v3	UTSW	8	45306981	missense	probably benign	0.02
R6700:Cyp4v3	UTSW	8	45307093	missense	probably damaging	1.00
R7027:Cyp4v3	UTSW	8	45310252	missense	possibly damaging	0.93
R7341:Cyp4v3	UTSW	8	45321750	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GACTGTGTCCCAAGATCTGG -3'
(R):5'- CCTACGTGGATGTGAAGTGC -3'

Sequencing Primer
(F):5'- CCAAGATCTGGGGTGCAG -3'
(R):5'- ATGTGAAGTGCCTGGGGAC -3'

Posted On

2015-09-24