Mutagenetix > Incidental Mutation

Incidental Mutation 'R2426:Cyp4v3'

250222

Institutional Source

Beutler Lab

Gene Symbol

Cyp4v3

Ensembl Gene

ENSMUSG00000079057

Gene Name

cytochrome P450, family 4, subfamily v, polypeptide 3

Synonyms

MMRRC Submission

040388-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45304944-45333216 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45317776 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 231 (Y231F)

Ref Sequence

ENSEMBL: ENSMUSP00000092966 (fasta)

Gene Model

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

AlphaFold

Q9DBW0

Predicted Effect

probably benign
Transcript: ENSMUST00000095328
AA Change: Y231F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092966
Gene: ENSMUSG00000079057
AA Change: Y231F

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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 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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	A	11: 23,576,801	R190W	probably damaging	Het
Abca14	G	T	7: 120,283,223	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,156,788	V131I	probably benign	Het
Adgra3	A	T	5: 50,009,449	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,421,902	V324A	probably damaging	Het
Ahnak	A	T	19: 9,002,851	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,598,284	D851G	probably damaging	Het
Amot	T	C	X: 145,476,291	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,384,181	E161*	probably null	Het
Atg9b	A	T	5: 24,386,994	I669N	probably damaging	Het
AY761184	T	G	8: 21,702,637	K114N	possibly damaging	Het
Ccdc83	A	G	7: 90,228,431	Y268H	probably damaging	Het
Cep170	A	G	1: 176,774,635	S302P	probably benign	Het
Cyp4a31	T	A	4: 115,571,016	M303K	probably damaging	Het
Dock3	A	T	9: 106,914,541	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,336,804	I629N	probably damaging	Het
Dst	A	T	1: 34,192,812	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,493,080	P343L	probably benign	Het
Fbrs	A	G	7: 127,487,339		probably null	Het
Fbxl13	A	C	5: 21,522,137	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,529,862	S164T	probably damaging	Het
Gdi2	T	G	13: 3,562,034	S330A	probably benign	Het
Gm5878	A	T	6: 85,118,631	M70K	probably benign	Het
H2-Q6	G	T	17: 35,424,937	A21S	probably benign	Het
Hfm1	A	T	5: 106,847,653		probably null	Het
Hnmt	C	T	2: 24,019,155	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,446,619	A310D	probably damaging	Het
Ints1	A	T	5: 139,771,814		probably null	Het
Kcne4	C	A	1: 78,817,971	A112E	possibly damaging	Het
Krt32	T	C	11: 100,086,366	K236R	possibly damaging	Het
Maml2	T	C	9: 13,706,498	L380P	probably damaging	Het
Meis1	A	T	11: 18,988,356	D218E	possibly damaging	Het
Mon1b	G	A	8: 113,639,120	G360D	probably damaging	Het
Mpp4	A	G	1: 59,130,057	S383P	probably damaging	Het
Neb	A	G	2: 52,169,053		probably null	Het
Nlgn2	A	T	11: 69,827,086	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,563,485	L134P	probably damaging	Het
Olfr329-ps	A	T	11: 58,543,094	Y127*	probably null	Het
Olfr371	T	C	8: 85,231,064	S190P	probably damaging	Het
Olfr777	T	C	10: 129,269,266	Q19R	probably benign	Het
Opcml	G	A	9: 28,903,367		probably null	Het
Pate2	A	T	9: 35,670,480		probably null	Het
Pgr	G	A	9: 8,900,717	V84M	probably damaging	Het
Pigu	A	T	2: 155,299,082	V296D	probably damaging	Het
Plcb2	G	A	2: 118,715,649	T555M	probably damaging	Het
Pld5	T	G	1: 175,963,976	D426A	probably benign	Het
Prdm2	G	T	4: 143,111,750	C1679*	probably null	Het
Psme2b	A	T	11: 48,946,063	V19D	probably benign	Het
Ptpn9	A	T	9: 57,027,428	N159Y	possibly damaging	Het
Sdc3	A	T	4: 130,818,803	T64S	unknown	Het
Serping1	T	G	2: 84,770,219	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,208,230	F436S	probably benign	Het
Sntb1	A	T	15: 55,906,179	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,722,925	Y643F	probably damaging	Het
Spink1	G	T	18: 43,735,222	S23*	probably null	Het
Stag1	T	C	9: 100,845,116		probably null	Het
Tnfaip8l1	G	A	17: 56,172,030	V107I	probably benign	Het
Tnik	A	G	3: 28,646,681	S907G	probably damaging	Het
Ttf1	T	A	2: 29,067,185	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp54	G	A	14: 20,564,940	A811V	probably benign	Het
Xirp2	A	G	2: 67,514,471	N2352S	probably benign	Het
Zan	T	C	5: 137,388,992	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,360,219	S161P	probably benign	Het
Zkscan5	A	T	5: 145,220,940	I751L	probably benign	Het
Zscan4d	A	G	7: 11,165,095	F85S	probably damaging	Het
Zzef1	A	G	11: 72,915,265	M2647V	probably benign	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
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
R4569:Cyp4v3	UTSW	8	45306992	missense	probably damaging	1.00
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
R7966:Cyp4v3	UTSW	8	45332917	missense	probably benign	0.44
R8331:Cyp4v3	UTSW	8	45315708	nonsense	probably null
R8886:Cyp4v3	UTSW	8	45321748	nonsense	probably null
R8955:Cyp4v3	UTSW	8	45308527	missense	probably benign	0.00
R8957:Cyp4v3	UTSW	8	45306981	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGCTGCATAACATTGCGAAATC -3'
(R):5'- CTGTAGAGACAAAAGCACTGAC -3'

Sequencing Primer
(F):5'- GCGAAATCATTTAATTCCACTTGAC -3'
(R):5'- ACTGACCAGGGGCTGTCTG -3'

Posted On

2014-11-12