Incidental Mutation 'R6464:Cyp27a1'
ID 517711
Institutional Source Beutler Lab
Gene Symbol Cyp27a1
Ensembl Gene ENSMUSG00000026170
Gene Name cytochrome P450, family 27, subfamily a, polypeptide 1
Synonyms Cyp27, cholesterol 27 hydroxylase, 1300013A03Rik
MMRRC Submission 044597-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R6464 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 74752733-74777051 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74775047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 292 (V292A)
Ref Sequence ENSEMBL: ENSMUSP00000027356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027356] [ENSMUST00000081636] [ENSMUST00000113672] [ENSMUST00000160732] [ENSMUST00000188073]
AlphaFold Q9DBG1
Predicted Effect possibly damaging
Transcript: ENSMUST00000027356
AA Change: V292A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170
AA Change: V292A

DomainStartEndE-ValueType
Pfam:p450 63 529 5.1e-107 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081636
SMART Domains Protein: ENSMUSP00000080342
Gene: ENSMUSG00000006542

DomainStartEndE-ValueType
low complexity region 63 77 N/A INTRINSIC
CBS 202 251 2.66e-6 SMART
CBS 283 332 7.57e-11 SMART
CBS 358 406 8.69e-11 SMART
CBS 430 478 3.73e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113672
SMART Domains Protein: ENSMUSP00000109302
Gene: ENSMUSG00000006542

DomainStartEndE-ValueType
low complexity region 38 52 N/A INTRINSIC
CBS 177 226 2.66e-6 SMART
CBS 258 307 7.57e-11 SMART
CBS 333 381 8.69e-11 SMART
CBS 405 453 3.73e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160732
SMART Domains Protein: ENSMUSP00000125344
Gene: ENSMUSG00000006542

DomainStartEndE-ValueType
low complexity region 63 77 N/A INTRINSIC
CBS 202 251 2.66e-6 SMART
CBS 283 332 7.57e-11 SMART
CBS 358 406 8.69e-11 SMART
CBS 430 478 3.73e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188073
SMART Domains Protein: ENSMUSP00000139909
Gene: ENSMUSG00000006542

DomainStartEndE-ValueType
low complexity region 63 77 N/A INTRINSIC
CBS 202 251 2.66e-6 SMART
CBS 283 332 7.57e-11 SMART
CBS 358 406 8.69e-11 SMART
CBS 430 478 3.73e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190781
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (48/48)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,265,354 (GRCm39) S769T probably damaging Het
Apoe G A 7: 19,431,461 (GRCm39) T52M probably damaging Het
Arhgef10l A C 4: 140,314,126 (GRCm39) M230R probably benign Het
Cdkl4 A T 17: 80,832,781 (GRCm39) I321N probably benign Het
Ceacam5 T C 7: 17,481,391 (GRCm39) probably null Het
Cfap70 T C 14: 20,451,107 (GRCm39) probably null Het
Clasp2 A G 9: 113,602,785 (GRCm39) Y195C probably damaging Het
Clip2 T C 5: 134,520,779 (GRCm39) I999V probably benign Het
Cntnap5a A G 1: 116,112,138 (GRCm39) D476G probably benign Het
Col6a6 C T 9: 105,666,152 (GRCm39) M1I probably null Het
Cyp2c29 A G 19: 39,317,669 (GRCm39) Y385C probably damaging Het
Dsg3 A C 18: 20,666,583 (GRCm39) R597S probably benign Het
Fam131c T C 4: 141,109,653 (GRCm39) I95T probably damaging Het
Fam13b A T 18: 34,606,684 (GRCm39) C302* probably null Het
Fkbp15 T C 4: 62,226,315 (GRCm39) K745E possibly damaging Het
Flg T A 3: 93,188,688 (GRCm39) probably benign Het
Gm11559 T C 11: 99,755,542 (GRCm39) C64R unknown Het
Helt T C 8: 46,745,571 (GRCm39) D104G probably damaging Het
Helz2 T C 2: 180,876,862 (GRCm39) T1211A probably benign Het
Ifna9 T C 4: 88,510,487 (GRCm39) R46G possibly damaging Het
Kif20b G A 19: 34,911,841 (GRCm39) V235I probably benign Het
Kif7 A G 7: 79,363,842 (GRCm39) V22A possibly damaging Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Lipf A T 19: 33,950,944 (GRCm39) Y305F probably benign Het
Lpar1 A G 4: 58,486,875 (GRCm39) L132P possibly damaging Het
Magi1 A T 6: 93,676,770 (GRCm39) V834E probably damaging Het
Meltf T C 16: 31,709,594 (GRCm39) Y432H probably benign Het
Mroh2a G C 1: 88,185,524 (GRCm39) E1510D probably damaging Het
Myo1f T C 17: 33,795,621 (GRCm39) L59P probably damaging Het
Naa25 G A 5: 121,556,024 (GRCm39) D271N probably damaging Het
Or10ag55-ps1 A T 2: 87,139,951 (GRCm39) I273F probably damaging Het
Or8u3-ps A T 2: 85,952,752 (GRCm39) I162F possibly damaging Het
Otoa A G 7: 120,701,828 (GRCm39) Q169R probably damaging Het
Pde4dip C T 3: 97,617,660 (GRCm39) D1723N probably damaging Het
Ptdss2 T C 7: 140,732,124 (GRCm39) V175A probably damaging Het
Rdh8 G T 9: 20,734,696 (GRCm39) R121L probably damaging Het
Rpl23 T C 11: 97,669,111 (GRCm39) probably null Het
Scn5a T C 9: 119,363,646 (GRCm39) D498G probably damaging Het
Slc39a14 G C 14: 70,544,177 (GRCm39) L470V probably damaging Het
Smok2a C T 17: 13,445,317 (GRCm39) A298V probably damaging Het
Tesk2 A C 4: 116,660,046 (GRCm39) D388A probably damaging Het
Tnik G A 3: 28,666,119 (GRCm39) probably null Het
Ube3a T A 7: 58,925,931 (GRCm39) Y236* probably null Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vinac1 T C 2: 128,881,465 (GRCm39) T154A possibly damaging Het
Vmn1r74 A T 7: 11,581,131 (GRCm39) I144L possibly damaging Het
Vmn2r1 G A 3: 64,008,766 (GRCm39) D482N probably benign Het
Vwf T C 6: 125,616,363 (GRCm39) probably null Het
Wdr97 A G 15: 76,246,977 (GRCm39) T1413A probably benign Het
Zfp703 C G 8: 27,469,355 (GRCm39) P340A probably damaging Het
Znfx1 T C 2: 166,888,842 (GRCm39) S789G probably benign Het
Other mutations in Cyp27a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Cyp27a1 APN 1 74,771,097 (GRCm39) missense possibly damaging 0.88
IGL01824:Cyp27a1 APN 1 74,775,040 (GRCm39) nonsense probably null
IGL02725:Cyp27a1 APN 1 74,774,862 (GRCm39) missense probably damaging 0.98
IGL02966:Cyp27a1 APN 1 74,771,249 (GRCm39) missense probably benign
IGL03067:Cyp27a1 APN 1 74,771,068 (GRCm39) splice site probably null
R0103:Cyp27a1 UTSW 1 74,775,074 (GRCm39) missense probably benign
R0103:Cyp27a1 UTSW 1 74,775,074 (GRCm39) missense probably benign
R1968:Cyp27a1 UTSW 1 74,776,435 (GRCm39) missense probably benign 0.00
R2271:Cyp27a1 UTSW 1 74,775,846 (GRCm39) missense probably damaging 1.00
R3847:Cyp27a1 UTSW 1 74,776,718 (GRCm39) missense probably damaging 0.99
R4735:Cyp27a1 UTSW 1 74,776,366 (GRCm39) missense possibly damaging 0.94
R4936:Cyp27a1 UTSW 1 74,774,564 (GRCm39) missense probably benign 0.35
R5849:Cyp27a1 UTSW 1 74,775,843 (GRCm39) missense probably damaging 1.00
R6129:Cyp27a1 UTSW 1 74,774,851 (GRCm39) missense probably benign 0.24
R6193:Cyp27a1 UTSW 1 74,776,231 (GRCm39) missense probably benign 0.00
R6344:Cyp27a1 UTSW 1 74,776,008 (GRCm39) critical splice donor site probably null
R7226:Cyp27a1 UTSW 1 74,776,507 (GRCm39) missense probably damaging 1.00
R7337:Cyp27a1 UTSW 1 74,774,594 (GRCm39) missense probably damaging 1.00
R7696:Cyp27a1 UTSW 1 74,771,198 (GRCm39) missense probably benign 0.00
R7959:Cyp27a1 UTSW 1 74,776,236 (GRCm39) missense probably benign 0.07
R8258:Cyp27a1 UTSW 1 74,771,214 (GRCm39) missense probably benign 0.22
R8259:Cyp27a1 UTSW 1 74,771,214 (GRCm39) missense probably benign 0.22
R9352:Cyp27a1 UTSW 1 74,752,920 (GRCm39) missense possibly damaging 0.92
Z1177:Cyp27a1 UTSW 1 74,776,494 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCCTTCCCAAATGGACGCG -3'
(R):5'- TACATCCCAAATGCTGCTCC -3'

Sequencing Primer
(F):5'- CCCTTTTGGAAGCGATACCTGAATG -3'
(R):5'- AAATGCTGCTCCCCCTTTCAG -3'
Posted On 2018-05-21