Incidental Mutation 'IGL01089:Cyp27a1'
ID 50232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp27a1
Ensembl Gene ENSMUSG00000026170
Gene Name cytochrome P450, family 27, subfamily a, polypeptide 1
Synonyms cholesterol 27 hydroxylase, Cyp27, 1300013A03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL01089
Quality Score
Status
Chromosome 1
Chromosomal Location 74713574-74737892 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74731938 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 94 (Y94F)
Ref Sequence ENSEMBL: ENSMUSP00000027356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027356]
AlphaFold Q9DBG1
Predicted Effect possibly damaging
Transcript: ENSMUST00000027356
AA Change: Y94F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170
AA Change: Y94F

DomainStartEndE-ValueType
Pfam:p450 63 529 5.1e-107 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190781
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 mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null allele show hepato- and adrenomegaly, reduced bile acid synthesis, increased cholesterol 7alpha-hydroxylase activity and 7alpha-hydroxycholesterol levels, slightly higher 25-hydroxyvitamin D levels, and altered hepatic fatty acid, triacylglycerol, and adrenal cholesterol homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,003,337 E180G possibly damaging Het
Actr8 T C 14: 29,988,335 L353S probably damaging Het
Adgrf2 G A 17: 42,710,158 P592S probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Afap1l2 A C 19: 56,913,411 probably null Het
Asnsd1 G A 1: 53,348,277 P64S probably damaging Het
Bmt2 A G 6: 13,663,271 M76T probably damaging Het
Clca3b A T 3: 144,823,522 V797D probably benign Het
Cog2 T C 8: 124,545,243 S499P probably benign Het
D430042O09Rik A G 7: 125,795,313 E187G probably damaging Het
D630045J12Rik A G 6: 38,136,963 S1765P probably benign Het
Fam149a A G 8: 45,348,527 L519P possibly damaging Het
Fam171a2 G A 11: 102,437,848 A695V possibly damaging Het
Fat1 T A 8: 45,017,857 V1566E probably damaging Het
Flvcr1 T G 1: 191,013,390 N361H probably damaging Het
Gm1110 T C 9: 26,881,860 N540S probably benign Het
Kcns3 T A 12: 11,091,571 T376S possibly damaging Het
Krt32 A G 11: 100,087,779 S150P probably benign Het
Lrtm2 C T 6: 119,320,792 R96Q possibly damaging Het
Mctp1 A G 13: 77,020,798 E838G probably damaging Het
Mios T C 6: 8,234,363 probably null Het
Olfr338 A T 2: 36,377,166 Y130F probably damaging Het
Phldb1 T A 9: 44,707,887 K167* probably null Het
Pkhd1l1 A G 15: 44,483,869 probably benign Het
Plaa A G 4: 94,574,047 V531A probably benign Het
Psmb2 A G 4: 126,684,206 Y59C probably damaging Het
Ptprg A G 14: 12,215,286 H1091R probably damaging Het
Rbm44 T A 1: 91,168,697 V926D possibly damaging Het
Rgma G T 7: 73,409,714 V189L possibly damaging Het
Sbf2 A T 7: 110,348,962 I1227K probably damaging Het
Slc8a1 T C 17: 81,648,281 T443A probably damaging Het
Slc8a1 A G 17: 81,388,881 V896A probably damaging Het
Taf2 T C 15: 55,016,581 M1120V probably benign Het
Ugt2b34 C T 5: 86,906,326 V199I probably benign Het
Unc5c C A 3: 141,818,202 probably benign Het
Usp37 G A 1: 74,493,046 R63* probably null Het
Other mutations in Cyp27a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01824:Cyp27a1 APN 1 74735881 nonsense probably null
IGL02725:Cyp27a1 APN 1 74735703 missense probably damaging 0.98
IGL02966:Cyp27a1 APN 1 74732090 missense probably benign
IGL03067:Cyp27a1 APN 1 74731909 splice site probably null
R0103:Cyp27a1 UTSW 1 74735915 missense probably benign
R0103:Cyp27a1 UTSW 1 74735915 missense probably benign
R1968:Cyp27a1 UTSW 1 74737276 missense probably benign 0.00
R2271:Cyp27a1 UTSW 1 74736687 missense probably damaging 1.00
R3847:Cyp27a1 UTSW 1 74737559 missense probably damaging 0.99
R4735:Cyp27a1 UTSW 1 74737207 missense possibly damaging 0.94
R4936:Cyp27a1 UTSW 1 74735405 missense probably benign 0.35
R5849:Cyp27a1 UTSW 1 74736684 missense probably damaging 1.00
R6129:Cyp27a1 UTSW 1 74735692 missense probably benign 0.24
R6193:Cyp27a1 UTSW 1 74737072 missense probably benign 0.00
R6344:Cyp27a1 UTSW 1 74736849 critical splice donor site probably null
R6464:Cyp27a1 UTSW 1 74735888 missense possibly damaging 0.61
R7226:Cyp27a1 UTSW 1 74737348 missense probably damaging 1.00
R7337:Cyp27a1 UTSW 1 74735435 missense probably damaging 1.00
R7696:Cyp27a1 UTSW 1 74732039 missense probably benign 0.00
R7959:Cyp27a1 UTSW 1 74737077 missense probably benign 0.07
R8258:Cyp27a1 UTSW 1 74732055 missense probably benign 0.22
R8259:Cyp27a1 UTSW 1 74732055 missense probably benign 0.22
R9352:Cyp27a1 UTSW 1 74713761 missense possibly damaging 0.92
Z1177:Cyp27a1 UTSW 1 74737335 missense probably damaging 1.00
Posted On 2013-06-21