Incidental Mutation 'R4735:Cyp27a1'
ID 356410
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 041962-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R4735 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 74752733-74777051 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 74776366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 434 (V434G)
Ref Sequence ENSEMBL: ENSMUSP00000027356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027356] [ENSMUST00000081636] [ENSMUST00000113672] [ENSMUST00000160732] [ENSMUST00000162093] [ENSMUST00000188073]
AlphaFold Q9DBG1
Predicted Effect possibly damaging
Transcript: ENSMUST00000027356
AA Change: V434G

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170
AA Change: V434G

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: ENSMUST00000162093
SMART Domains Protein: ENSMUSP00000125242
Gene: ENSMUSG00000006542

low complexity region 63 77 N/A INTRINSIC
CBS 202 251 2.66e-6 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 133 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,262,897 (GRCm39) I1410N possibly damaging Het
9230106D20Rik T C 10: 19,536,001 (GRCm39) noncoding transcript Het
Acsf3 T A 8: 123,508,218 (GRCm39) I238N probably damaging Het
Ahctf1 T C 1: 179,580,964 (GRCm39) N1746S probably benign Het
Akap3 T C 6: 126,842,601 (GRCm39) S407P probably damaging Het
Ankfy1 T A 11: 72,621,437 (GRCm39) M241K probably benign Het
Ano7 C A 1: 93,328,216 (GRCm39) T622K probably benign Het
App T C 16: 84,900,202 (GRCm39) T83A probably damaging Het
Arhgef28 T A 13: 98,036,237 (GRCm39) E1674V probably damaging Het
Asb2 C A 12: 103,291,317 (GRCm39) V489L probably benign Het
Atrn T C 2: 130,862,910 (GRCm39) V1330A probably benign Het
Bltp1 T A 3: 37,059,116 (GRCm39) N3267K possibly damaging Het
Brca1 A G 11: 101,383,001 (GRCm39) probably null Het
Bspry G A 4: 62,404,762 (GRCm39) R186Q probably damaging Het
Ccdc168 A G 1: 44,100,861 (GRCm39) I79T probably benign Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Celsr1 T A 15: 85,790,230 (GRCm39) probably null Het
Ckap4 A G 10: 84,369,384 (GRCm39) V116A possibly damaging Het
Crb3 A G 17: 57,372,207 (GRCm39) T85A probably damaging Het
Cyld T C 8: 89,456,278 (GRCm39) S443P probably damaging Het
Cyp2b13 A G 7: 25,787,720 (GRCm39) T339A probably benign Het
Dars1 A T 1: 128,303,971 (GRCm39) L252* probably null Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Ddx55 T C 5: 124,704,539 (GRCm39) F382S probably damaging Het
Dmtf1l T A X: 125,722,217 (GRCm39) K296M probably damaging Het
Dnah7b G A 1: 46,106,115 (GRCm39) R33Q unknown Het
Dnm2 G T 9: 21,385,883 (GRCm39) S302I probably damaging Het
Dock4 T A 12: 40,681,525 (GRCm39) F75I probably benign Het
Dpp10 T C 1: 123,326,356 (GRCm39) N365S probably benign Het
Dpy19l3 G T 7: 35,422,146 (GRCm39) Q236K probably benign Het
Dsp T C 13: 38,380,016 (GRCm39) S1655P probably damaging Het
Ebpl A T 14: 61,579,567 (GRCm39) I117N probably damaging Het
Edc4 T A 8: 106,613,818 (GRCm39) V386E probably damaging Het
Eif2s2 T A 2: 154,720,467 (GRCm39) probably null Het
Elob A T 17: 24,046,562 (GRCm39) probably null Het
Enox2 T C X: 48,158,554 (GRCm39) I71V probably damaging Het
Fez1 A T 9: 36,772,141 (GRCm39) K149* probably null Het
Fhip2a A G 19: 57,359,661 (GRCm39) E67G probably damaging Het
Fign A G 2: 63,810,782 (GRCm39) Y163H probably damaging Het
Flnc G A 6: 29,455,812 (GRCm39) G2048S probably damaging Het
Fras1 A G 5: 96,736,022 (GRCm39) D539G probably benign Het
Frmd4b T C 6: 97,436,220 (GRCm39) probably benign Het
Gan C T 8: 117,920,970 (GRCm39) T402M probably damaging Het
Ganc T A 2: 120,267,104 (GRCm39) silent Het
Ggt6 C A 11: 72,327,425 (GRCm39) R103S probably benign Het
Gli2 T C 1: 118,768,052 (GRCm39) D725G probably damaging Het
Gm15446 T A 5: 110,090,818 (GRCm39) C357S probably damaging Het
Gm44501 A G 17: 40,889,810 (GRCm39) N108S probably benign Het
Gm6309 A T 5: 146,105,054 (GRCm39) D286E probably damaging Het
Gm6358 G A 16: 88,937,848 (GRCm39) G29E unknown Het
Grik5 A G 7: 24,757,713 (GRCm39) I422T probably damaging Het
Grin2c A G 11: 115,140,422 (GRCm39) I1232T possibly damaging Het
Gsg1 C T 6: 135,214,405 (GRCm39) R365H possibly damaging Het
H2-M2 A G 17: 37,794,135 (GRCm39) S30P possibly damaging Het
Hcfc2 A G 10: 82,547,914 (GRCm39) D302G probably damaging Het
Hk2 T C 6: 82,721,955 (GRCm39) D128G probably benign Het
Hmcn2 C A 2: 31,273,787 (GRCm39) Q1380K probably benign Het
Hsp90b1 G T 10: 86,529,819 (GRCm39) P617T probably damaging Het
Htr1d A G 4: 136,170,197 (GRCm39) E142G probably benign Het
Hydin G A 8: 111,282,264 (GRCm39) probably null Het
Il1r1 T A 1: 40,332,455 (GRCm39) N81K probably benign Het
Inpp5b T C 4: 124,677,760 (GRCm39) S407P probably damaging Het
Itpkb T C 1: 180,245,780 (GRCm39) Y766H probably damaging Het
Lyrm2 T A 4: 32,801,150 (GRCm39) I65N probably damaging Het
Mink1 T A 11: 70,500,086 (GRCm39) probably null Het
Mkrn3 C T 7: 62,069,452 (GRCm39) R113H probably damaging Het
Msx3 G A 7: 139,627,798 (GRCm39) A157V probably damaging Het
Nrxn2 T G 19: 6,548,484 (GRCm39) V59G possibly damaging Het
Nt5c3b T C 11: 100,331,732 (GRCm39) T12A probably benign Het
Nwd2 G A 5: 63,965,594 (GRCm39) R1726Q probably benign Het
Nynrin A G 14: 56,107,625 (GRCm39) T911A probably benign Het
Or11i1 T A 3: 106,728,996 (GRCm39) Y293F probably damaging Het
Or4p18 T C 2: 88,233,267 (GRCm39) T4A probably benign Het
Or51aa5 A G 7: 103,167,030 (GRCm39) I187T possibly damaging Het
Or51af1 C T 7: 103,141,267 (GRCm39) V273M possibly damaging Het
Or52n20 C T 7: 104,320,200 (GRCm39) T97I probably benign Het
Or5p66 A G 7: 107,885,520 (GRCm39) M271T probably benign Het
Or6c212 A G 10: 129,558,792 (GRCm39) I207T probably benign Het
Patl1 G T 19: 11,899,869 (GRCm39) M220I probably benign Het
Pcnx2 A T 8: 126,554,780 (GRCm39) probably null Het
Pigr A T 1: 130,774,291 (GRCm39) T424S probably damaging Het
Pik3c2b T A 1: 132,994,787 (GRCm39) D250E probably benign Het
Ppa2 G A 3: 133,076,186 (GRCm39) E272K probably benign Het
Pramel7 G A 2: 87,321,187 (GRCm39) Q283* probably null Het
Prelid3b A G 2: 174,307,683 (GRCm39) I81T probably benign Het
Prpf38a T C 4: 108,436,242 (GRCm39) I24V possibly damaging Het
Ptger2 A G 14: 45,239,295 (GRCm39) D311G possibly damaging Het
Rab4b A T 7: 26,872,191 (GRCm39) probably benign Het
Rad17 A C 13: 100,755,637 (GRCm39) D581E probably damaging Het
Samd11 T C 4: 156,333,230 (GRCm39) T333A probably benign Het
Scaf4 C T 16: 90,049,320 (GRCm39) D256N unknown Het
Serinc2 A G 4: 130,157,438 (GRCm39) F82L probably benign Het
Serpina3g T A 12: 104,205,372 (GRCm39) V37E probably damaging Het
Serpinb9c T A 13: 33,334,254 (GRCm39) M263L probably benign Het
Shbg A G 11: 69,508,326 (GRCm39) I67T possibly damaging Het
Slc25a48 G A 13: 56,596,887 (GRCm39) probably null Het
Slc25a54 T C 3: 109,005,923 (GRCm39) W144R probably damaging Het
Slc34a1 A T 13: 55,561,397 (GRCm39) T621S probably benign Het
Slc6a18 A T 13: 73,814,554 (GRCm39) C419S probably benign Het
Smc5 A T 19: 23,220,069 (GRCm39) D389E probably benign Het
Smco3 T A 6: 136,808,636 (GRCm39) E79D probably damaging Het
Sox5 A G 6: 143,906,561 (GRCm39) F298S probably damaging Het
Sphkap A G 1: 83,256,838 (GRCm39) S304P probably benign Het
Tcea2 C T 2: 181,328,514 (GRCm39) T211I probably damaging Het
Tcf4 G T 18: 69,697,226 (GRCm39) S34I possibly damaging Het
Tlr4 C T 4: 66,759,435 (GRCm39) R743C probably damaging Het
Tmem183a T C 1: 134,288,620 (GRCm39) E67G probably damaging Het
Tpr C T 1: 150,317,947 (GRCm39) R2152C possibly damaging Het
Trbv15 T C 6: 41,118,358 (GRCm39) I38T probably benign Het
Treh G A 9: 44,592,849 (GRCm39) A125T probably damaging Het
Trio A T 15: 27,752,875 (GRCm39) probably null Het
Ttn A G 2: 76,782,293 (GRCm39) V981A probably damaging Het
Uap1l1 A G 2: 25,252,732 (GRCm39) L436P probably damaging Het
Uba7 A T 9: 107,854,115 (GRCm39) I182F possibly damaging Het
Unc13c A T 9: 73,600,620 (GRCm39) S1375T probably benign Het
Usp48 C CT 4: 137,360,680 (GRCm39) probably null Het
Utp20 A C 10: 88,652,780 (GRCm39) V378G possibly damaging Het
Vmn1r69 A T 7: 10,314,926 (GRCm39) probably benign Het
Vmn1r86 A T 7: 12,836,221 (GRCm39) H218Q probably damaging Het
Vmn2r121 T A X: 123,038,335 (GRCm39) I562L probably benign Het
Vmn2r45 A T 7: 8,486,472 (GRCm39) I272N probably damaging Het
Wdr90 A G 17: 26,078,424 (GRCm39) V320A probably benign Het
Wfikkn1 A G 17: 26,097,367 (GRCm39) V319A possibly damaging Het
Whamm A G 7: 81,221,122 (GRCm39) D18G probably benign Het
Wrn T A 8: 33,775,250 (GRCm39) I605F probably damaging Het
Zdhhc18 A G 4: 133,341,178 (GRCm39) F232L probably damaging Het
Zfp41 T C 15: 75,490,609 (GRCm39) I187T probably benign Het
Zfp418 A G 7: 7,185,561 (GRCm39) Y508C probably damaging Het
Zfp560 T G 9: 20,260,347 (GRCm39) I172L probably benign Het
Zfp943 A T 17: 22,211,391 (GRCm39) D159V probably benign Het
Zfp955a T C 17: 33,460,696 (GRCm39) I479V probably benign Het
Zfpm1 T A 8: 123,062,219 (GRCm39) V426D probably benign Het
Zic1 C T 9: 91,246,558 (GRCm39) M171I possibly damaging 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-11-11