Incidental Mutation 'R0103:Cyp27a1'
ID 17788
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 038389-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R0103 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 74752733-74777051 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 74775074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 301 (E301A)
Ref Sequence ENSEMBL: ENSMUSP00000027356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027356] [ENSMUST00000081636] [ENSMUST00000113672] [ENSMUST00000160732] [ENSMUST00000188073]
AlphaFold Q9DBG1
Predicted Effect probably benign
Transcript: ENSMUST00000027356
AA Change: E301A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170
AA Change: E301A

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

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

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

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

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 0.0898 question?
Coding Region Coverage
  • 1x: 89.4%
  • 3x: 86.4%
  • 10x: 77.8%
  • 20x: 63.0%
Validation Efficiency 91% (89/98)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,223,951 (GRCm39) R443S probably damaging Het
Adgrl3 A G 5: 81,940,194 (GRCm39) probably benign Het
Anapc1 T C 2: 128,522,372 (GRCm39) probably benign Het
Aqr T A 2: 113,979,497 (GRCm39) I313F probably damaging Het
Arfgap3 A T 15: 83,206,922 (GRCm39) probably benign Het
Asah2 G T 19: 31,996,377 (GRCm39) H374N probably benign Het
Catspere2 A G 1: 177,943,771 (GRCm39) N703D unknown Het
Ccdc106 C A 7: 5,060,544 (GRCm39) Q35K probably benign Het
Ccm2l G T 2: 152,909,839 (GRCm39) E64* probably null Het
Cep85l A T 10: 53,154,270 (GRCm39) D776E possibly damaging Het
Cfap52 T A 11: 67,815,951 (GRCm39) I611F possibly damaging Het
Cldn22 C T 8: 48,277,589 (GRCm39) T9M probably benign Het
Coa7 T C 4: 108,195,338 (GRCm39) L89P possibly damaging Het
Cox7a2l A T 17: 83,821,701 (GRCm39) Y2N probably damaging Het
Dennd4c A G 4: 86,730,683 (GRCm39) Y860C probably benign Het
Dhx58 T C 11: 100,586,096 (GRCm39) T642A probably damaging Het
Dlg4 A G 11: 69,922,019 (GRCm39) Y87C probably damaging Het
Dnah6 C T 6: 73,069,155 (GRCm39) E2511K probably damaging Het
Entpd5 C A 12: 84,443,717 (GRCm39) E9* probably null Het
Fbln2 A C 6: 91,248,532 (GRCm39) I1066L probably benign Het
Fhl2 C T 1: 43,192,381 (GRCm39) R4H probably benign Het
Frmpd1 T A 4: 45,229,884 (GRCm39) I17K probably damaging Het
Gbp7 T A 3: 142,252,299 (GRCm39) N627K probably benign Het
Gnptab A G 10: 88,265,381 (GRCm39) Y331C probably damaging Het
Hibadh T A 6: 52,534,862 (GRCm39) M173L probably benign Het
Itga1 T C 13: 115,152,790 (GRCm39) I211V probably benign Het
Keg1 A T 19: 12,696,280 (GRCm39) I155F possibly damaging Het
Ltb A G 17: 35,414,016 (GRCm39) probably benign Het
Manea A T 4: 26,329,080 (GRCm39) probably null Het
Ms4a4a T A 19: 11,370,048 (GRCm39) M202K possibly damaging Het
Myo3a T G 2: 22,436,360 (GRCm39) probably benign Het
Myo9b C T 8: 71,776,493 (GRCm39) probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ncor1 G T 11: 62,233,871 (GRCm39) Q444K possibly damaging Het
Nek7 A T 1: 138,471,980 (GRCm39) C53* probably null Het
Obscn G T 11: 58,953,522 (GRCm39) Y4044* probably null Het
Pcsk6 T C 7: 65,578,845 (GRCm39) probably benign Het
Phax T A 18: 56,695,785 (GRCm39) V7D probably benign Het
Phxr4 T C 9: 13,343,087 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,593,583 (GRCm39) D1510V probably benign Het
Pkhd1l1 T C 15: 44,460,537 (GRCm39) C4249R probably benign Het
Prpf39 T C 12: 65,102,057 (GRCm39) V378A possibly damaging Het
Psd2 A G 18: 36,137,770 (GRCm39) N455S probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rab4b A G 7: 26,873,927 (GRCm39) I117T probably benign Het
Rad9b A T 5: 122,469,590 (GRCm39) V348E probably damaging Het
Rcor1 T C 12: 111,076,212 (GRCm39) probably benign Het
Rhoc A T 3: 104,699,307 (GRCm39) E32V possibly damaging Het
Rnf40 T G 7: 127,199,743 (GRCm39) V925G probably damaging Het
Slc25a32 A T 15: 38,963,292 (GRCm39) Y176* probably null Het
Slc7a1 T A 5: 148,289,236 (GRCm39) K4* probably null Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Taar4 A T 10: 23,837,304 (GRCm39) N305Y probably damaging Het
Tcaf1 G T 6: 42,663,324 (GRCm39) D185E probably benign Het
Tmem138 T C 19: 10,552,316 (GRCm39) N62S possibly damaging Het
Tnfrsf25 C T 4: 152,201,405 (GRCm39) P65S possibly damaging Het
Trp53bp1 A T 2: 121,067,240 (GRCm39) S495R possibly damaging Het
Trpv3 T C 11: 73,184,805 (GRCm39) F597S probably damaging Het
Ugt2a3 A G 5: 87,484,577 (GRCm39) V149A possibly damaging Het
Ush2a T G 1: 188,051,267 (GRCm39) I251R possibly damaging Het
Vamp4 T C 1: 162,417,108 (GRCm39) C114R possibly damaging Het
Zc3h13 T A 14: 75,567,908 (GRCm39) V1067E probably damaging Het
Zcwpw1 G A 5: 137,808,375 (GRCm39) W274* probably null 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
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
R6464:Cyp27a1 UTSW 1 74,775,047 (GRCm39) missense possibly damaging 0.61
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
Posted On 2013-01-31