Incidental Mutation 'R5081:Cyp39a1'
ID 387156
Institutional Source Beutler Lab
Gene Symbol Cyp39a1
Ensembl Gene ENSMUSG00000023963
Gene Name cytochrome P450, family 39, subfamily a, polypeptide 1
Synonyms oxysterol 7-alpha-hydroxylase
MMRRC Submission 042670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5081 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 43978316-44062322 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44057488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 442 (D442E)
Ref Sequence ENSEMBL: ENSMUSP00000130073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170988]
AlphaFold Q9JKJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000170988
AA Change: D442E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130073
Gene: ENSMUSG00000023963
AA Change: D442E

DomainStartEndE-ValueType
Pfam:p450 32 464 1.9e-52 PFAM
Meta Mutation Damage Score 0.2146 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
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 involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Ccpg1 A G 9: 72,906,360 (GRCm39) T39A possibly damaging Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Col1a1 A G 11: 94,842,402 (GRCm39) D1440G unknown Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Idi1 T A 13: 8,937,963 (GRCm39) C91* probably null Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Kpna3 C T 14: 61,628,694 (GRCm39) S101N probably damaging Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Morc1 T G 16: 48,322,715 (GRCm39) S337R probably benign Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nnt T C 13: 119,502,936 (GRCm39) N489S probably damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or1j17 A G 2: 36,578,655 (GRCm39) I214V possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pank1 T C 19: 34,856,316 (GRCm39) H54R probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Psmd2 A G 16: 20,480,405 (GRCm39) T709A probably benign Het
Qsox1 G T 1: 155,688,581 (GRCm39) probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Sart1 T C 19: 5,438,576 (GRCm39) E27G possibly damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Serpinb6d A T 13: 33,855,230 (GRCm39) R301S probably benign Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Vwa2 C T 19: 56,897,752 (GRCm39) H686Y probably damaging Het
Other mutations in Cyp39a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Cyp39a1 APN 17 44,012,434 (GRCm39) missense probably benign 0.01
IGL01070:Cyp39a1 APN 17 43,993,913 (GRCm39) missense probably benign 0.00
IGL01606:Cyp39a1 APN 17 44,057,509 (GRCm39) splice site probably benign
IGL01769:Cyp39a1 APN 17 44,060,806 (GRCm39) missense possibly damaging 0.53
IGL01916:Cyp39a1 APN 17 44,041,941 (GRCm39) missense probably damaging 1.00
IGL02374:Cyp39a1 APN 17 44,060,872 (GRCm39) utr 3 prime probably benign
IGL02402:Cyp39a1 APN 17 44,002,613 (GRCm39) missense probably benign 0.07
IGL03097:Cyp39a1 UTSW 17 43,993,941 (GRCm39) nonsense probably null
R0230:Cyp39a1 UTSW 17 44,042,903 (GRCm39) missense probably damaging 1.00
R1244:Cyp39a1 UTSW 17 44,060,836 (GRCm39) missense probably benign 0.13
R1572:Cyp39a1 UTSW 17 43,991,020 (GRCm39) missense probably damaging 1.00
R1656:Cyp39a1 UTSW 17 43,978,510 (GRCm39) missense possibly damaging 0.74
R4036:Cyp39a1 UTSW 17 43,987,831 (GRCm39) missense probably damaging 0.97
R4308:Cyp39a1 UTSW 17 44,041,855 (GRCm39) splice site probably null
R5197:Cyp39a1 UTSW 17 44,057,429 (GRCm39) missense possibly damaging 0.67
R5405:Cyp39a1 UTSW 17 43,987,831 (GRCm39) missense probably damaging 1.00
R5566:Cyp39a1 UTSW 17 43,996,099 (GRCm39) missense possibly damaging 0.92
R5578:Cyp39a1 UTSW 17 43,991,031 (GRCm39) missense possibly damaging 0.91
R6045:Cyp39a1 UTSW 17 44,042,882 (GRCm39) missense probably damaging 1.00
R6495:Cyp39a1 UTSW 17 44,002,585 (GRCm39) missense probably benign 0.41
R7191:Cyp39a1 UTSW 17 44,041,910 (GRCm39) nonsense probably null
R7431:Cyp39a1 UTSW 17 43,993,906 (GRCm39) missense probably benign
R7522:Cyp39a1 UTSW 17 43,978,370 (GRCm39) start gained probably benign
R7620:Cyp39a1 UTSW 17 44,036,544 (GRCm39) splice site probably null
R8022:Cyp39a1 UTSW 17 44,057,468 (GRCm39) missense probably damaging 1.00
R8143:Cyp39a1 UTSW 17 44,036,517 (GRCm39) missense probably benign 0.39
R8483:Cyp39a1 UTSW 17 43,993,898 (GRCm39) missense probably benign 0.01
R8549:Cyp39a1 UTSW 17 44,041,886 (GRCm39) missense possibly damaging 0.95
R8964:Cyp39a1 UTSW 17 44,002,558 (GRCm39) missense probably benign 0.02
R9730:Cyp39a1 UTSW 17 43,991,029 (GRCm39) missense probably benign 0.01
Z1176:Cyp39a1 UTSW 17 44,041,939 (GRCm39) missense probably damaging 1.00
Z1176:Cyp39a1 UTSW 17 44,036,468 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGCAATGGAGCCATGCCAAC -3'
(R):5'- GAACCACTGCATCTACCTGG -3'

Sequencing Primer
(F):5'- GCCATGCCAACCACTCAGTG -3'
(R):5'- GCATCTACCTGGAGTTAAACCTGAG -3'
Posted On 2016-06-06