Incidental Mutation 'R4308:Cyp39a1'
ID 324117
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 041659-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R4308 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 43978316-44062322 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 44041855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170988] [ENSMUST00000170988]
AlphaFold Q9JKJ9
Predicted Effect probably null
Transcript: ENSMUST00000170988
SMART Domains Protein: ENSMUSP00000130073
Gene: ENSMUSG00000023963

DomainStartEndE-ValueType
Pfam:p450 32 464 1.9e-52 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170988
SMART Domains Protein: ENSMUSP00000130073
Gene: ENSMUSG00000023963

DomainStartEndE-ValueType
Pfam:p450 32 464 1.9e-52 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (47/48)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,588,311 (GRCm39) T4425M probably damaging Het
Arhgef5 C T 6: 43,256,432 (GRCm39) A1180V probably damaging Het
Asap2 T C 12: 21,279,482 (GRCm39) I426T probably damaging Het
Ascc1 T G 10: 59,849,434 (GRCm39) H108Q probably benign Het
Bod1l A T 5: 41,949,156 (GRCm39) S2989T possibly damaging Het
Cfap157 G A 2: 32,669,054 (GRCm39) R350W probably damaging Het
Dars2 A G 1: 160,869,291 (GRCm39) S653P probably damaging Het
Fancm A T 12: 65,173,305 (GRCm39) K1872N probably benign Het
Fktn C T 4: 53,724,617 (GRCm39) probably benign Het
Gpr33 A T 12: 52,070,423 (GRCm39) C205* probably null Het
Gsdmc2 A G 15: 63,720,554 (GRCm39) probably benign Het
Il31 A G 5: 123,618,769 (GRCm39) S6P probably damaging Het
Iqca1 T C 1: 90,072,619 (GRCm39) K87R probably damaging Het
Kif15 T G 9: 122,843,047 (GRCm39) H47Q probably benign Het
L3mbtl3 C T 10: 26,158,690 (GRCm39) A653T unknown Het
Lamb1 T C 12: 31,379,254 (GRCm39) L1737P probably damaging Het
Map2k5 C G 9: 63,142,586 (GRCm39) R353S probably benign Het
Mical2 C A 7: 111,931,199 (GRCm39) L721I probably benign Het
Myo1b T C 1: 51,922,268 (GRCm39) K37E probably benign Het
Myo5b A G 18: 74,864,811 (GRCm39) D1369G possibly damaging Het
Npc1 C T 18: 12,343,584 (GRCm39) A470T possibly damaging Het
Obi1 T A 14: 104,717,029 (GRCm39) N448I probably damaging Het
Or12e13 T C 2: 87,663,614 (GRCm39) I77T probably damaging Het
Or14j10 C T 17: 37,934,627 (GRCm39) V300I possibly damaging Het
Pcdhb1 A T 18: 37,399,714 (GRCm39) D555V probably benign Het
Prr27 A G 5: 87,990,766 (GRCm39) H126R probably benign Het
Rbm20 A G 19: 53,831,691 (GRCm39) S642G probably damaging Het
Rnf144b A G 13: 47,396,418 (GRCm39) N252D probably damaging Het
Rwdd2b A T 16: 87,233,615 (GRCm39) W162R probably damaging Het
Scaf11 A G 15: 96,344,396 (GRCm39) M19T probably benign Het
Sft2d2 A G 1: 165,015,833 (GRCm39) I45T probably benign Het
Skint5 A T 4: 113,341,164 (GRCm39) H1371Q unknown Het
Tas2r124 A G 6: 132,731,954 (GRCm39) I88V probably benign Het
Tasor2 A C 13: 3,619,498 (GRCm39) S2244R probably damaging Het
Ubr4 T C 4: 139,199,820 (GRCm39) V4568A possibly damaging Het
Vmn2r12 A G 5: 109,233,872 (GRCm39) L780P probably damaging Het
Vmn2r18 A T 5: 151,508,268 (GRCm39) Y285* probably null Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zfp983 A G 17: 21,881,124 (GRCm39) I351V probably benign 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
R5081:Cyp39a1 UTSW 17 44,057,488 (GRCm39) missense probably damaging 1.00
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'- CCTTAAAGCATCCCCTGTGC -3'
(R):5'- GGCTGCTTGCTGATACAGATTC -3'

Sequencing Primer
(F):5'- GTGACCACTCTATTACAGTGCCAGG -3'
(R):5'- GAGAGAGAACTTACAGGTTTG -3'
Posted On 2015-06-24