Incidental Mutation 'R6193:Cyp27a1'
ID 502686
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 044333-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R6193 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 74752733-74777051 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74776231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 416 (I416V)
Ref Sequence ENSEMBL: ENSMUSP00000027356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027356] [ENSMUST00000081636] [ENSMUST00000113672] [ENSMUST00000160732] [ENSMUST00000162093] [ENSMUST00000188073]
AlphaFold Q9DBG1
Predicted Effect probably benign
Transcript: ENSMUST00000027356
AA Change: I416V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170
AA Change: I416V

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: ENSMUST00000162093
SMART Domains Protein: ENSMUSP00000125242
Gene: ENSMUSG00000006542

DomainStartEndE-ValueType
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

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A G 15: 60,792,629 (GRCm39) I106T probably benign Het
Aagab A C 9: 63,524,795 (GRCm39) N35H possibly damaging Het
Abcf1 A C 17: 36,274,464 (GRCm39) N161K possibly damaging Het
Adam11 T A 11: 102,662,087 (GRCm39) H140Q probably benign Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Arhgef26 A T 3: 62,247,213 (GRCm39) D99V possibly damaging Het
Arhgef28 A G 13: 98,121,888 (GRCm39) S559P probably damaging Het
Capn11 A G 17: 45,964,430 (GRCm39) probably null Het
Ccdc157 T C 11: 4,101,912 (GRCm39) H3R probably damaging Het
Cd101 A G 3: 100,927,778 (GRCm39) L101P probably damaging Het
Clca3a1 A G 3: 144,464,993 (GRCm39) V80A possibly damaging Het
Cnot6 T A 11: 49,570,850 (GRCm39) I381F probably benign Het
Cntn3 T A 6: 102,185,092 (GRCm39) I675F probably benign Het
Cplx2 C T 13: 54,527,406 (GRCm39) P97S probably damaging Het
Crtac1 T A 19: 42,312,236 (GRCm39) E159V possibly damaging Het
Cyp2d37-ps T C 15: 82,574,014 (GRCm39) noncoding transcript Het
Cyp2d9 A G 15: 82,336,728 (GRCm39) T26A probably benign Het
Cyp2j7 T A 4: 96,083,440 (GRCm39) R503S probably damaging Het
Dclk1 A T 3: 55,424,292 (GRCm39) probably null Het
Dgkq A T 5: 108,803,366 (GRCm39) C231* probably null Het
Dync1i1 T A 6: 5,730,679 (GRCm39) M38K probably benign Het
Eif2ak4 C T 2: 118,231,081 (GRCm39) probably benign Het
Ephx2 A T 14: 66,326,961 (GRCm39) D411E probably benign Het
Ephx2 T G 14: 66,349,669 (GRCm39) Q34P probably benign Het
Fer1l5 A T 1: 36,448,517 (GRCm39) N1092Y probably benign Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fzd4 A T 7: 89,057,197 (GRCm39) K415* probably null Het
Gfi1 A T 5: 107,869,397 (GRCm39) Y278N probably benign Het
Gm11565 T C 11: 99,806,070 (GRCm39) M154T probably benign Het
Gm7247 A G 14: 51,759,299 (GRCm39) I93V possibly damaging Het
Golm1 T G 13: 59,792,972 (GRCm39) I178L probably benign Het
Grip1 A T 10: 119,874,219 (GRCm39) D302V probably damaging Het
Gtf2h1 G A 7: 46,456,254 (GRCm39) probably null Het
Herc2 C A 7: 55,806,649 (GRCm39) P2372T probably damaging Het
Ighv1-59 C A 12: 115,298,786 (GRCm39) L89F probably damaging Het
Ighv7-4 G A 12: 114,186,445 (GRCm39) A109V possibly damaging Het
Kcnk10 G T 12: 98,407,031 (GRCm39) Q222K probably benign Het
Klra6 A T 6: 129,995,881 (GRCm39) M159K probably benign Het
Lzts3 T C 2: 130,479,306 (GRCm39) T36A probably damaging Het
Mgam T A 6: 40,724,854 (GRCm39) Y443* probably null Het
Mmp23 T A 4: 155,735,990 (GRCm39) M221L possibly damaging Het
Mmp7 T A 9: 7,695,519 (GRCm39) V132E probably damaging Het
Npas2 C A 1: 39,331,843 (GRCm39) T86N probably damaging Het
Or1e32 T A 11: 73,705,650 (GRCm39) H86L probably benign Het
Or5al7 C T 2: 85,992,628 (GRCm39) V222M possibly damaging Het
Papola A T 12: 105,786,605 (GRCm39) E103V probably benign Het
Parp9 A T 16: 35,767,921 (GRCm39) N34Y possibly damaging Het
Pcdh7 A G 5: 57,877,666 (GRCm39) D407G probably damaging Het
Pcdhb5 T G 18: 37,455,080 (GRCm39) Y487D probably damaging Het
Pira12 C G 7: 3,901,049 (GRCm39) probably null Het
Pla2g4a T C 1: 149,778,181 (GRCm39) D5G probably damaging Het
Plxnb1 T C 9: 108,933,971 (GRCm39) L733P probably benign Het
Ppfia4 T C 1: 134,251,899 (GRCm39) D425G probably benign Het
Prss2 T G 6: 41,498,754 (GRCm39) I6S unknown Het
Psme3ip1 A G 8: 95,302,348 (GRCm39) S228P probably damaging Het
Qrfprl T A 6: 65,433,142 (GRCm39) F321I probably damaging Het
Qrich2 T A 11: 116,344,979 (GRCm39) I1693L probably benign Het
Rad52 T C 6: 119,897,143 (GRCm39) V324A probably benign Het
Rapgef2 A T 3: 78,976,751 (GRCm39) Y1352N possibly damaging Het
Rsad2 T G 12: 26,506,186 (GRCm39) Y78S probably damaging Het
Scaf1 A G 7: 44,656,204 (GRCm39) probably benign Het
Sfxn5 T C 6: 85,246,918 (GRCm39) T131A probably damaging Het
Slc4a10 T G 2: 62,073,701 (GRCm39) probably null Het
Spmap2l A G 5: 77,164,183 (GRCm39) D62G possibly damaging Het
Syt1 A G 10: 108,336,597 (GRCm39) V357A probably benign Het
Tenm2 T A 11: 35,937,621 (GRCm39) D1685V probably damaging Het
Tmc3 A G 7: 83,252,543 (GRCm39) T315A probably benign Het
Tmem266 T C 9: 55,344,493 (GRCm39) L375P probably benign Het
Tsks T G 7: 44,603,263 (GRCm39) L355R probably damaging Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Ube2f T A 1: 91,203,041 (GRCm39) probably null Het
Usp37 A T 1: 74,532,087 (GRCm39) V102D probably damaging Het
Usp44 G A 10: 93,683,010 (GRCm39) probably benign Het
Vmn2r115 T C 17: 23,575,983 (GRCm39) F527S probably benign Het
Zfp101 A C 17: 33,600,720 (GRCm39) Y345* probably null Het
Zfp160 C A 17: 21,247,124 (GRCm39) A558E probably benign Het
Zfp236 T C 18: 82,622,372 (GRCm39) E1686G probably damaging Het
Zfp655 T A 5: 145,181,586 (GRCm39) D481E probably benign Het
Zswim4 A G 8: 84,952,774 (GRCm39) V396A 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
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
(F):5'- TTAAGGAGACCCTGCGGTAG -3'
(R):5'- GTTGGGCTCAGGAAAGACACTG -3'

Sequencing Primer
(F):5'- TATGATCCCATGCGCATAGG -3'
(R):5'- CTCAGGAAAGACACTGGGATCC -3'
Posted On 2018-02-27