Incidental Mutation 'IGL02492:Cyp51'
ID295695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp51
Ensembl Gene ENSMUSG00000001467
Gene Namecytochrome P450, family 51
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02492
Quality Score
Status
Chromosome5
Chromosomal Location4081145-4104746 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 4104304 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 2 (V2I)
Ref Sequence ENSEMBL: ENSMUSP00000001507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001507]
Predicted Effect probably benign
Transcript: ENSMUST00000001507
AA Change: V2I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000001507
Gene: ENSMUSG00000001467
AA Change: V2I

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:p450 61 496 1.9e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199909
Coding Region Coverage
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. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit skeletal and craniofacial abnormalities and die at late midgestation due to heart failure resulting from cardiac hypoplasia, ventricle septum, epicardial and vasculogenesis defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,048,113 E1320G probably benign Het
Atm A G 9: 53,455,859 L2482P probably damaging Het
Bcl11b T C 12: 107,915,686 Y718C probably damaging Het
Ccrl2 A G 9: 111,055,803 I209T probably benign Het
Cd200r2 A G 16: 44,909,540 K149R probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col18a1 A G 10: 77,072,021 probably benign Het
Cops5 T A 1: 10,027,152 T291S probably benign Het
Csmd1 C A 8: 16,002,597 V2176F probably benign Het
Ctse C A 1: 131,668,234 S221R probably damaging Het
Cxcl3 A G 5: 90,786,340 probably null Het
Dennd5a A G 7: 109,933,637 F285L probably benign Het
Dst T G 1: 34,152,193 probably benign Het
Frzb A T 2: 80,424,591 probably benign Het
Gm5070 A T 3: 95,411,043 noncoding transcript Het
Gm9637 A G 14: 19,402,182 noncoding transcript Het
Grip1 A G 10: 119,930,040 probably benign Het
Itga4 C T 2: 79,255,657 probably benign Het
Ltbp2 A T 12: 84,809,665 I675N probably damaging Het
Olfr733 T G 14: 50,298,603 K235N probably damaging Het
Pcdhb20 G T 18: 37,506,400 V660L probably benign Het
Prex2 T G 1: 11,123,845 L484R possibly damaging Het
Prkg1 A T 19: 30,724,202 V305D probably damaging Het
Rab44 A G 17: 29,146,049 probably benign Het
Smpd4 C T 16: 17,639,351 A391V probably damaging Het
Smyd4 T C 11: 75,403,426 L711P probably benign Het
Spag16 T G 1: 69,887,529 M261R probably benign Het
Steap1 A G 5: 5,740,561 V129A possibly damaging Het
Tbcd A T 11: 121,497,134 I364L probably benign Het
Trmt13 C T 3: 116,582,543 D400N possibly damaging Het
Vps13a A G 19: 16,647,637 S2753P probably damaging Het
Xirp2 T G 2: 67,516,167 S2917R probably damaging Het
Zfp983 G A 17: 21,657,612 probably null Het
Other mutations in Cyp51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02045:Cyp51 APN 5 4083247 missense probably damaging 1.00
IGL02047:Cyp51 APN 5 4099244 missense possibly damaging 0.86
IGL02191:Cyp51 APN 5 4100147 missense probably benign 0.05
IGL03209:Cyp51 APN 5 4104195 missense probably damaging 1.00
PIT4515001:Cyp51 UTSW 5 4099122 critical splice donor site probably null
PIT4520001:Cyp51 UTSW 5 4101200 missense probably damaging 1.00
R0535:Cyp51 UTSW 5 4099202 missense probably benign 0.00
R2048:Cyp51 UTSW 5 4086636 splice site probably benign
R2165:Cyp51 UTSW 5 4086594 missense probably damaging 1.00
R2851:Cyp51 UTSW 5 4099183 missense probably damaging 1.00
R3975:Cyp51 UTSW 5 4091877 missense probably damaging 0.97
R4799:Cyp51 UTSW 5 4083256 missense probably damaging 1.00
R5699:Cyp51 UTSW 5 4101213 missense probably damaging 1.00
R6163:Cyp51 UTSW 5 4100199 missense probably damaging 1.00
R6484:Cyp51 UTSW 5 4086627 missense probably benign 0.07
R7046:Cyp51 UTSW 5 4100188 missense probably damaging 1.00
R7155:Cyp51 UTSW 5 4087846 missense possibly damaging 0.90
R7877:Cyp51 UTSW 5 4102929 missense probably damaging 1.00
R7904:Cyp51 UTSW 5 4100173 missense probably damaging 0.99
R8094:Cyp51 UTSW 5 4086490 missense probably benign 0.08
R8095:Cyp51 UTSW 5 4086490 missense probably benign 0.08
Posted On2015-04-16