Incidental Mutation 'R6539:Cyp46a1'
ID 520626
Institutional Source Beutler Lab
Gene Symbol Cyp46a1
Ensembl Gene ENSMUSG00000021259
Gene Name cytochrome P450, family 46, subfamily a, polypeptide 1
Synonyms cholestrol 24-hydroxylase, Cyp46
MMRRC Submission 044665-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6539 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 108300640-108328493 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 108319416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021684] [ENSMUST00000221708]
AlphaFold Q9WVK8
Predicted Effect probably null
Transcript: ENSMUST00000021684
SMART Domains Protein: ENSMUSP00000021684
Gene: ENSMUSG00000021259

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
Pfam:p450 34 484 1.7e-86 PFAM
low complexity region 493 499 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222902
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (46/46)
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 endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygouse for deletions in this gene are essentially normal. Levels of 24(s)-hydroxycholesterol are reduced in serum and in the brain. Cholesterol synthesis in the brain is reduced 40%. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G A 8: 25,272,616 (GRCm39) A513V possibly damaging Het
Ano8 T C 8: 71,937,127 (GRCm39) D147G probably damaging Het
Apba1 A G 19: 23,913,924 (GRCm39) D649G probably damaging Het
Atp6v0d1 T C 8: 106,251,606 (GRCm39) I329V probably benign Het
Card6 T A 15: 5,134,873 (GRCm39) N110I probably damaging Het
Cfap410 A G 10: 77,820,322 (GRCm39) T231A probably benign Het
Chn2 T A 6: 54,150,446 (GRCm39) probably null Het
Daam2 T A 17: 49,776,739 (GRCm39) H782L probably damaging Het
Defa26 A G 8: 22,108,262 (GRCm39) I22V possibly damaging Het
Dlk1 A G 12: 109,426,245 (GRCm39) M278V probably benign Het
Dync2h1 T C 9: 7,159,478 (GRCm39) probably null Het
Ehmt1 T A 2: 24,694,779 (GRCm39) H1056L probably damaging Het
Ephb3 G A 16: 21,040,218 (GRCm39) D527N probably benign Het
Flt1 T C 5: 147,515,186 (GRCm39) K1079E probably benign Het
Fndc3b C T 3: 27,592,206 (GRCm39) G231R probably benign Het
Gm4924 T A 10: 82,214,358 (GRCm39) probably benign Het
Ifrd1 G A 12: 40,253,434 (GRCm39) A426V probably damaging Het
Ift140 T C 17: 25,313,643 (GRCm39) L1358P possibly damaging Het
Igkv5-37 A T 6: 69,940,800 (GRCm39) S16T probably benign Het
Map3k9 A G 12: 81,778,966 (GRCm39) L449P probably damaging Het
Mdm1 T C 10: 117,986,863 (GRCm39) probably null Het
Mmrn1 A T 6: 60,964,168 (GRCm39) T1056S probably benign Het
Mroh2b C T 15: 4,935,056 (GRCm39) H164Y probably damaging Het
Muc16 T C 9: 18,548,621 (GRCm39) T5891A probably benign Het
Nagpa T C 16: 5,021,565 (GRCm39) E62G possibly damaging Het
Nek10 T A 14: 14,860,789 (GRCm38) V475D possibly damaging Het
Or4c101 T C 2: 88,389,864 (GRCm39) F6S probably damaging Het
Or5ac15 A C 16: 58,940,114 (GRCm39) S106R probably damaging Het
Pan3 T C 5: 147,387,463 (GRCm39) I144T possibly damaging Het
Parvg T A 15: 84,225,541 (GRCm39) D349E probably damaging Het
Pitpna A G 11: 75,489,127 (GRCm39) Y58C probably damaging Het
Ppp4r3b T A 11: 29,168,503 (GRCm39) D73E probably benign Het
Preb A G 5: 31,113,420 (GRCm39) V338A probably benign Het
Sec23a T C 12: 59,031,998 (GRCm39) T411A probably benign Het
Smc6 A G 12: 11,347,011 (GRCm39) probably null Het
Stxbp5l A G 16: 36,950,177 (GRCm39) M1056T probably damaging Het
Tbcd T A 11: 121,447,813 (GRCm39) probably null Het
Tent5a T C 9: 85,208,614 (GRCm39) I70V possibly damaging Het
Tpx2 G T 2: 152,718,518 (GRCm39) E174* probably null Het
Trpc4ap G T 2: 155,478,178 (GRCm39) P663T probably benign Het
Unc5cl G A 17: 48,772,045 (GRCm39) G441D probably damaging Het
Xrcc2 G T 5: 25,897,530 (GRCm39) R140S probably benign Het
Zfc3h1 G A 10: 115,247,907 (GRCm39) E1037K probably benign Het
Zfhx4 A T 3: 5,309,168 (GRCm39) Q798L probably damaging Het
Zfp94 G A 7: 24,002,716 (GRCm39) T236M probably damaging Het
Other mutations in Cyp46a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Cyp46a1 APN 12 108,318,234 (GRCm39) missense possibly damaging 0.78
IGL01623:Cyp46a1 APN 12 108,318,234 (GRCm39) missense possibly damaging 0.78
IGL01804:Cyp46a1 APN 12 108,321,745 (GRCm39) missense probably benign 0.44
IGL02069:Cyp46a1 APN 12 108,312,394 (GRCm39) missense probably benign 0.18
IGL02900:Cyp46a1 APN 12 108,309,350 (GRCm39) missense probably damaging 1.00
IGL02969:Cyp46a1 APN 12 108,309,296 (GRCm39) missense probably damaging 1.00
PIT4651001:Cyp46a1 UTSW 12 108,319,367 (GRCm39) missense probably benign 0.17
R0138:Cyp46a1 UTSW 12 108,317,470 (GRCm39) missense probably damaging 1.00
R1572:Cyp46a1 UTSW 12 108,318,198 (GRCm39) missense probably null 0.97
R1879:Cyp46a1 UTSW 12 108,319,385 (GRCm39) missense probably damaging 1.00
R2280:Cyp46a1 UTSW 12 108,321,730 (GRCm39) missense probably damaging 1.00
R3879:Cyp46a1 UTSW 12 108,324,389 (GRCm39) missense probably benign 0.14
R4674:Cyp46a1 UTSW 12 108,324,345 (GRCm39) missense probably damaging 1.00
R4717:Cyp46a1 UTSW 12 108,318,285 (GRCm39) critical splice donor site probably null
R6224:Cyp46a1 UTSW 12 108,327,819 (GRCm39) missense probably damaging 1.00
R6473:Cyp46a1 UTSW 12 108,321,734 (GRCm39) missense possibly damaging 0.87
R7253:Cyp46a1 UTSW 12 108,318,255 (GRCm39) missense probably benign 0.16
R8208:Cyp46a1 UTSW 12 108,318,171 (GRCm39) critical splice acceptor site probably null
R8805:Cyp46a1 UTSW 12 108,327,462 (GRCm39) missense probably damaging 1.00
R8951:Cyp46a1 UTSW 12 108,312,348 (GRCm39) missense possibly damaging 0.90
R8992:Cyp46a1 UTSW 12 108,324,366 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- TCACGCAGATCCTCAAAGGTG -3'
(R):5'- TTGAGCCAAAGAAGCCAGC -3'

Sequencing Primer
(F):5'- GGATGCTCCCGTCCCACTATC -3'
(R):5'- GAAGCCAGCTTCCCAAACAG -3'
Posted On 2018-06-06