Incidental Mutation 'IGL02047:Cyp51'
ID 184967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp51
Ensembl Gene ENSMUSG00000001467
Gene Name cytochrome P450, family 51
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02047
Quality Score
Status
Chromosome 5
Chromosomal Location 4131145-4154746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4149244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 211 (H211L)
Ref Sequence ENSEMBL: ENSMUSP00000001507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001507]
AlphaFold Q8K0C4
Predicted Effect possibly damaging
Transcript: ENSMUST00000001507
AA Change: H211L

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001507
Gene: ENSMUSG00000001467
AA Change: H211L

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
A730049H05Rik G T 6: 92,808,909 (GRCm39) probably benign Het
Ank3 A G 10: 69,728,324 (GRCm39) N681S possibly damaging Het
Arpp19 T G 9: 74,964,058 (GRCm39) S137A probably damaging Het
Bmp2 T C 2: 133,402,896 (GRCm39) L149P probably damaging Het
Bpifb1 T C 2: 154,044,536 (GRCm39) M1T probably null Het
Btbd7 T C 12: 102,760,038 (GRCm39) S637G probably benign Het
Cyth1 C A 11: 118,059,958 (GRCm39) Q333H probably damaging Het
Dennd5a G A 7: 109,533,991 (GRCm39) T67M possibly damaging Het
Dse A T 10: 34,038,841 (GRCm39) Y51* probably null Het
Dynlt3 A T X: 9,522,665 (GRCm39) Y76* probably null Het
Fabp12 T C 3: 10,312,778 (GRCm39) probably benign Het
Galr1 A T 18: 82,424,118 (GRCm39) L53Q probably damaging Het
Igkv4-70 A T 6: 69,244,911 (GRCm39) D103E probably damaging Het
Il2 T C 3: 37,180,000 (GRCm39) N19S probably benign Het
Jhy T C 9: 40,828,476 (GRCm39) I477V probably benign Het
Kcnk4 A G 19: 6,903,626 (GRCm39) S308P probably benign Het
Lipo3 A T 19: 33,534,562 (GRCm39) I299K probably benign Het
Mark3 T A 12: 111,584,797 (GRCm39) I131N probably damaging Het
Msr1 A G 8: 40,077,001 (GRCm39) V137A probably benign Het
Nf1 T A 11: 79,316,361 (GRCm39) V482E probably benign Het
Pcsk1 T C 13: 75,246,108 (GRCm39) V162A probably benign Het
Phf8-ps C T 17: 33,286,275 (GRCm39) V176M probably damaging Het
Plekhb1 A G 7: 100,304,506 (GRCm39) V47A probably damaging Het
R3hcc1l G A 19: 42,552,258 (GRCm39) M418I probably benign Het
Slc24a4 T C 12: 102,220,882 (GRCm39) F438L probably damaging Het
Slc38a5 G T X: 8,139,879 (GRCm39) V127L possibly damaging Het
Szt2 A G 4: 118,233,834 (GRCm39) probably benign Het
Tdh A T 14: 63,734,407 (GRCm39) H80Q probably benign Het
Tshz3 A C 7: 36,469,893 (GRCm39) K627N probably damaging Het
Usp28 C T 9: 48,946,941 (GRCm39) P791S probably damaging Het
Wdr81 A G 11: 75,336,332 (GRCm39) Y1686H probably damaging Het
Xpot G T 10: 121,437,267 (GRCm39) probably benign Het
Zfand4 G A 6: 116,291,889 (GRCm39) G627R probably damaging Het
Other mutations in Cyp51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02045:Cyp51 APN 5 4,133,247 (GRCm39) missense probably damaging 1.00
IGL02191:Cyp51 APN 5 4,150,147 (GRCm39) missense probably benign 0.05
IGL02492:Cyp51 APN 5 4,154,304 (GRCm39) missense probably benign 0.01
IGL03209:Cyp51 APN 5 4,154,195 (GRCm39) missense probably damaging 1.00
PIT4515001:Cyp51 UTSW 5 4,149,122 (GRCm39) critical splice donor site probably null
PIT4520001:Cyp51 UTSW 5 4,151,200 (GRCm39) missense probably damaging 1.00
R0535:Cyp51 UTSW 5 4,149,202 (GRCm39) missense probably benign 0.00
R2048:Cyp51 UTSW 5 4,136,636 (GRCm39) splice site probably benign
R2165:Cyp51 UTSW 5 4,136,594 (GRCm39) missense probably damaging 1.00
R2851:Cyp51 UTSW 5 4,149,183 (GRCm39) missense probably damaging 1.00
R3975:Cyp51 UTSW 5 4,141,877 (GRCm39) missense probably damaging 0.97
R4799:Cyp51 UTSW 5 4,133,256 (GRCm39) missense probably damaging 1.00
R5699:Cyp51 UTSW 5 4,151,213 (GRCm39) missense probably damaging 1.00
R6163:Cyp51 UTSW 5 4,150,199 (GRCm39) missense probably damaging 1.00
R6484:Cyp51 UTSW 5 4,136,627 (GRCm39) missense probably benign 0.07
R7046:Cyp51 UTSW 5 4,150,188 (GRCm39) missense probably damaging 1.00
R7155:Cyp51 UTSW 5 4,137,846 (GRCm39) missense possibly damaging 0.90
R7877:Cyp51 UTSW 5 4,152,929 (GRCm39) missense probably damaging 1.00
R7904:Cyp51 UTSW 5 4,150,173 (GRCm39) missense probably damaging 0.99
R8094:Cyp51 UTSW 5 4,136,490 (GRCm39) missense probably benign 0.08
R8095:Cyp51 UTSW 5 4,136,490 (GRCm39) missense probably benign 0.08
R8938:Cyp51 UTSW 5 4,150,202 (GRCm39) missense probably benign 0.00
R8963:Cyp51 UTSW 5 4,136,519 (GRCm39) missense probably damaging 0.98
R9097:Cyp51 UTSW 5 4,149,172 (GRCm39) missense possibly damaging 0.78
R9173:Cyp51 UTSW 5 4,136,504 (GRCm39) missense probably benign
R9416:Cyp51 UTSW 5 4,150,198 (GRCm39) missense probably damaging 0.98
Posted On 2014-05-07