Incidental Mutation 'R5260:Cyp4v3'
ID 401378
Institutional Source Beutler Lab
Gene Symbol Cyp4v3
Ensembl Gene ENSMUSG00000079057
Gene Name cytochrome P450, family 4, subfamily v, polypeptide 3
Synonyms
MMRRC Submission 042829-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5260 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 45758838-45786200 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45760017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 512 (G512S)
Ref Sequence ENSEMBL: ENSMUSP00000092966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026907] [ENSMUST00000095328]
AlphaFold Q9DBW0
Predicted Effect unknown
Transcript: ENSMUST00000026907
AA Change: G72S
SMART Domains Protein: ENSMUSP00000026907
Gene: ENSMUSG00000109764
AA Change: G72S

DomainStartEndE-ValueType
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: G512S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092966
Gene: ENSMUSG00000079057
AA Change: G512S

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:p450 51 517 2.7e-123 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000116473
AA Change: G72S
SMART Domains Protein: ENSMUSP00000112174
Gene: ENSMUSG00000031640
AA Change: G72S

DomainStartEndE-ValueType
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 0.8334 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 99% (77/78)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,461,003 (GRCm39) I14F probably damaging Het
Acin1 T C 14: 54,880,279 (GRCm39) probably benign Het
Adamts9 C A 6: 92,784,118 (GRCm39) V1579L probably benign Het
Adra2a T A 19: 54,035,039 (GRCm39) C132S probably damaging Het
Aif1 T A 17: 35,390,917 (GRCm39) probably null Het
Atf5 A T 7: 44,464,510 (GRCm39) Y27* probably null Het
Atm A G 9: 53,417,911 (GRCm39) S799P probably damaging Het
Bmp2k T G 5: 97,235,210 (GRCm39) probably benign Het
Chaf1a C T 17: 56,372,000 (GRCm39) H723Y probably damaging Het
Clint1 T C 11: 45,798,769 (GRCm39) W493R probably damaging Het
Cyb561a3 T A 19: 10,565,230 (GRCm39) V198D possibly damaging Het
Cyp2j8 T C 4: 96,389,301 (GRCm39) E174G possibly damaging Het
Dnah8 T A 17: 30,919,393 (GRCm39) V1122D probably benign Het
Doc2b C A 11: 75,676,989 (GRCm39) G128V probably damaging Het
Dysf T C 6: 84,127,016 (GRCm39) V1378A probably damaging Het
Efcab5 A T 11: 77,028,477 (GRCm39) S421T possibly damaging Het
Efcab6 T G 15: 83,829,324 (GRCm39) D672A probably benign Het
Eif2ak3 C A 6: 70,870,113 (GRCm39) H933Q probably damaging Het
Erc1 A T 6: 119,738,120 (GRCm39) N574K probably damaging Het
Eri2 A T 7: 119,387,069 (GRCm39) probably benign Het
Faxc A G 4: 21,948,744 (GRCm39) Y152C probably damaging Het
Fbxl7 T A 15: 26,543,585 (GRCm39) Y354F probably damaging Het
Fras1 T A 5: 96,883,046 (GRCm39) I2526N possibly damaging Het
Gm5424 A T 10: 61,907,374 (GRCm39) noncoding transcript Het
Gm6728 T C 6: 136,463,701 (GRCm39) noncoding transcript Het
Golgb1 A T 16: 36,733,503 (GRCm39) S917C probably benign Het
Gtpbp3 T C 8: 71,942,062 (GRCm39) probably benign Het
Gusb A T 5: 130,028,829 (GRCm39) Y220* probably null Het
Gvin3 A G 7: 106,198,411 (GRCm39) noncoding transcript Het
Hmcn1 A G 1: 150,471,612 (GRCm39) V4914A possibly damaging Het
Iars2 C A 1: 185,055,931 (GRCm39) C211F probably damaging Het
Kif5b A G 18: 6,211,058 (GRCm39) L802P probably damaging Het
Kif5c A G 2: 49,625,602 (GRCm39) E624G probably damaging Het
Kmt2d G T 15: 98,740,741 (GRCm39) probably benign Het
Krt82 C A 15: 101,456,823 (GRCm39) G186C possibly damaging Het
Lca5 G A 9: 83,305,276 (GRCm39) R177C probably damaging Het
Mab21l4 A T 1: 93,087,700 (GRCm39) V51E probably damaging Het
Mier1 T C 4: 103,019,907 (GRCm39) S318P probably benign Het
Obscn A T 11: 58,894,195 (GRCm39) I1207N probably damaging Het
Oog4 C T 4: 143,164,424 (GRCm39) G369D probably benign Het
Or4c126 A G 2: 89,824,526 (GRCm39) D263G probably damaging Het
Or4k52 A G 2: 111,611,526 (GRCm39) Y287C probably damaging Het
Or52d13 A G 7: 103,109,822 (GRCm39) F198L probably benign Het
Or5d35 A C 2: 87,855,818 (GRCm39) I251L probably benign Het
Plec T C 15: 76,060,824 (GRCm39) T3060A probably damaging Het
Plekhh2 C T 17: 84,884,593 (GRCm39) T769I probably damaging Het
Prkaa1 A T 15: 5,190,149 (GRCm39) S65C probably damaging Het
Psma3 T C 12: 71,031,416 (GRCm39) probably benign Het
Ptpn18 T A 1: 34,502,591 (GRCm39) probably benign Het
Ptprv T C 1: 135,039,998 (GRCm39) noncoding transcript Het
Rac1 C A 5: 143,493,886 (GRCm39) V104L probably benign Het
Serpinb7 A T 1: 107,362,479 (GRCm39) N61I possibly damaging Het
Sirt7 A C 11: 120,511,347 (GRCm39) probably benign Het
Srl G A 16: 4,300,759 (GRCm39) R333* probably null Het
Srprb A T 9: 103,079,119 (GRCm39) L756Q probably damaging Het
Tchhl1 T C 3: 93,378,102 (GRCm39) S269P probably damaging Het
Tdo2 C T 3: 81,882,630 (GRCm39) probably null Het
Teddm1a T C 1: 153,767,646 (GRCm39) Y37H probably benign Het
Tenm3 T C 8: 48,689,890 (GRCm39) Y1899C probably damaging Het
Tep1 T C 14: 51,076,088 (GRCm39) T1681A probably benign Het
Timm44 G T 8: 4,325,919 (GRCm39) probably null Het
Trp73 A G 4: 154,147,059 (GRCm39) V322A possibly damaging Het
Tsr1 A C 11: 74,796,781 (GRCm39) E611A probably damaging Het
Unc80 A G 1: 66,685,746 (GRCm39) N2290S possibly damaging Het
Ush2a T C 1: 188,679,276 (GRCm39) V4828A possibly damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wnt9b C A 11: 103,622,875 (GRCm39) S176I possibly damaging Het
Zfp329 A G 7: 12,540,453 (GRCm39) probably benign Het
Zfp352 T A 4: 90,112,697 (GRCm39) V279D probably damaging Het
Zfp932 C T 5: 110,157,501 (GRCm39) Q400* probably null Het
Zxdc T A 6: 90,359,075 (GRCm39) L569Q probably damaging Het
Other mutations in Cyp4v3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Cyp4v3 APN 8 45,760,040 (GRCm39) missense probably benign 0.04
IGL00503:Cyp4v3 APN 8 45,760,058 (GRCm39) missense probably damaging 0.98
IGL00757:Cyp4v3 APN 8 45,773,652 (GRCm39) missense probably damaging 0.98
IGL02375:Cyp4v3 APN 8 45,761,411 (GRCm39) splice site probably null
IGL02565:Cyp4v3 APN 8 45,773,674 (GRCm39) missense possibly damaging 0.63
IGL02881:Cyp4v3 APN 8 45,761,753 (GRCm39) missense probably damaging 1.00
R0745:Cyp4v3 UTSW 8 45,761,688 (GRCm39) unclassified probably benign
R1818:Cyp4v3 UTSW 8 45,768,673 (GRCm39) missense possibly damaging 0.77
R1819:Cyp4v3 UTSW 8 45,768,673 (GRCm39) missense possibly damaging 0.77
R1902:Cyp4v3 UTSW 8 45,759,989 (GRCm39) missense probably benign 0.00
R2426:Cyp4v3 UTSW 8 45,770,813 (GRCm39) missense probably benign
R3747:Cyp4v3 UTSW 8 45,768,745 (GRCm39) nonsense probably null
R3748:Cyp4v3 UTSW 8 45,768,745 (GRCm39) nonsense probably null
R3750:Cyp4v3 UTSW 8 45,768,745 (GRCm39) nonsense probably null
R4289:Cyp4v3 UTSW 8 45,781,260 (GRCm39) missense possibly damaging 0.46
R4569:Cyp4v3 UTSW 8 45,760,029 (GRCm39) missense probably damaging 1.00
R4960:Cyp4v3 UTSW 8 45,773,674 (GRCm39) missense possibly damaging 0.63
R5479:Cyp4v3 UTSW 8 45,763,243 (GRCm39) missense probably benign 0.00
R5667:Cyp4v3 UTSW 8 45,761,572 (GRCm39) missense possibly damaging 0.94
R5940:Cyp4v3 UTSW 8 45,774,821 (GRCm39) missense probably damaging 1.00
R6102:Cyp4v3 UTSW 8 45,773,197 (GRCm39) missense probably damaging 1.00
R6470:Cyp4v3 UTSW 8 45,770,773 (GRCm39) nonsense probably null
R6592:Cyp4v3 UTSW 8 45,760,018 (GRCm39) missense probably benign 0.02
R6700:Cyp4v3 UTSW 8 45,760,130 (GRCm39) missense probably damaging 1.00
R7027:Cyp4v3 UTSW 8 45,763,289 (GRCm39) missense possibly damaging 0.93
R7341:Cyp4v3 UTSW 8 45,774,787 (GRCm39) missense probably benign 0.01
R7966:Cyp4v3 UTSW 8 45,785,954 (GRCm39) missense probably benign 0.44
R8331:Cyp4v3 UTSW 8 45,768,745 (GRCm39) nonsense probably null
R8886:Cyp4v3 UTSW 8 45,774,785 (GRCm39) nonsense probably null
R8955:Cyp4v3 UTSW 8 45,761,564 (GRCm39) missense probably benign 0.00
R8957:Cyp4v3 UTSW 8 45,760,018 (GRCm39) missense probably benign 0.02
R9718:Cyp4v3 UTSW 8 45,773,703 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTGTGTCCCAAGATCTGG -3'
(R):5'- GCCTACGTGGATGTGAAGTG -3'

Sequencing Primer
(F):5'- CCAAGATCTGGGGTGCAG -3'
(R):5'- TGCAGCTTCGGTATCTCATG -3'
Posted On 2016-07-06