Incidental Mutation 'IGL02966:Cyp27a1'
ID 365599
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
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL02966
Quality Score
Chromosome 1
Chromosomal Location 74713574-74737892 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74732090 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 145 (T145A)
Ref Sequence ENSEMBL: ENSMUSP00000027356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027356]
AlphaFold Q9DBG1
Predicted Effect probably benign
Transcript: ENSMUST00000027356
AA Change: T145A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170
AA Change: T145A

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A T X: 81,419,711 Y797N possibly damaging Het
Actbl2 G A 13: 111,255,572 G147E probably damaging Het
Adam18 A T 8: 24,611,149 probably benign Het
Ahcyl2 G A 6: 29,880,557 V175I probably benign Het
Alox12 T A 11: 70,250,085 T375S probably damaging Het
Batf2 C A 19: 6,171,789 Q210K probably damaging Het
Bicd1 T C 6: 149,483,996 S76P probably damaging Het
Bphl A T 13: 34,063,997 H251L probably damaging Het
C130074G19Rik C A 1: 184,882,746 E82D probably damaging Het
Calu A T 6: 29,356,585 K39* probably null Het
Capns1 T C 7: 30,192,193 D142G probably damaging Het
Ccr8 T C 9: 120,094,140 V107A probably damaging Het
Cep170b G A 12: 112,736,444 G447D possibly damaging Het
Chat C T 14: 32,448,946 V199M probably damaging Het
Cntnap1 G T 11: 101,184,749 V918L probably damaging Het
Dgkq T A 5: 108,656,421 probably null Het
Dnhd1 A G 7: 105,720,741 I4458V probably benign Het
Enpp1 T A 10: 24,660,274 E409D probably damaging Het
Fam78b G T 1: 167,078,888 L205F probably damaging Het
Foxr2 C A X: 153,130,681 R183S probably damaging Het
Ganc T C 2: 120,433,648 S361P probably damaging Het
Gfra4 C A 2: 131,042,640 A15S possibly damaging Het
Gm8011 A T 14: 42,466,000 D145V unknown Het
Gnb4 A G 3: 32,585,223 V307A probably benign Het
Hdac4 A T 1: 92,054,945 V17E possibly damaging Het
Herc6 G A 6: 57,583,333 probably null Het
Hivep3 A G 4: 120,132,186 T1945A probably benign Het
Ica1l A T 1: 60,010,139 N218K probably damaging Het
Kmt2b A T 7: 30,575,462 L1939Q probably benign Het
Lrrc40 G A 3: 158,041,665 probably benign Het
March8 C T 6: 116,403,538 R117C probably damaging Het
Megf6 T C 4: 154,253,777 S327P probably damaging Het
Mocos T G 18: 24,676,611 C424G probably damaging Het
Mrpl50 A G 4: 49,521,014 W14R probably benign Het
Mysm1 A T 4: 94,975,286 D23E probably benign Het
Naa35 T A 13: 59,586,271 D34E probably benign Het
Nid1 A G 13: 13,482,221 I646V probably benign Het
Nupr1 T C 7: 126,624,901 probably benign Het
Olfr1449 A T 19: 12,934,800 I21F probably benign Het
Olfr171 G T 16: 19,624,301 H266Q probably damaging Het
Olfr875 T G 9: 37,773,586 L309R probably benign Het
Pcbp2 A C 15: 102,484,249 probably benign Het
Pde8b T C 13: 95,095,648 Q158R probably damaging Het
Pdzd8 T C 19: 59,300,859 Y703C probably damaging Het
Plxnb3 T C X: 73,765,283 S885P probably benign Het
Poc1b T A 10: 99,144,314 C136S probably damaging Het
Pole2 T C 12: 69,209,875 D292G probably damaging Het
Prpf39 T C 12: 65,042,779 V97A probably benign Het
Rbbp8 T A 18: 11,705,812 H183Q possibly damaging Het
Scn2a C T 2: 65,701,844 T600M possibly damaging Het
Spata32 T C 11: 103,208,803 Q292R possibly damaging Het
Sugp1 T C 8: 70,071,108 probably benign Het
Sult3a1 A C 10: 33,877,273 probably benign Het
Tpm3-rs7 C T 14: 113,315,378 Q235* probably null Het
Trbv2 A T 6: 41,047,751 T34S possibly damaging Het
Tssk6 A G 8: 69,902,885 Y193C probably benign Het
Ttn T C 2: 76,708,458 K34676R possibly damaging Het
Ugt3a2 T C 15: 9,370,068 Y433H probably damaging Het
Wdhd1 T C 14: 47,241,644 K1072E possibly damaging Het
Other mutations in Cyp27a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Cyp27a1 APN 1 74731938 missense possibly damaging 0.88
IGL01824:Cyp27a1 APN 1 74735881 nonsense probably null
IGL02725:Cyp27a1 APN 1 74735703 missense probably damaging 0.98
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 2015-12-18