Incidental Mutation 'R0230:Cyp39a1'
ID 34090
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 038473-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R0230 (G1)
Quality Score 104
Status Validated
Chromosome 17
Chromosomal Location 43978316-44062322 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44042903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 418 (R418W)
Ref Sequence ENSEMBL: ENSMUSP00000130073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170988]
AlphaFold Q9JKJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000170988
AA Change: R418W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130073
Gene: ENSMUSG00000023963
AA Change: R418W

DomainStartEndE-ValueType
Pfam:p450 32 464 1.9e-52 PFAM
Meta Mutation Damage Score 0.6301 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.7%
Validation Efficiency 100% (83/83)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amy1 T C 3: 113,352,079 (GRCm39) D371G probably benign Het
Asrgl1 T A 19: 9,095,883 (GRCm39) probably benign Het
Asxl3 T A 18: 22,585,383 (GRCm39) probably benign Het
B3galnt1 T C 3: 69,482,673 (GRCm39) N196S possibly damaging Het
Bbof1 A G 12: 84,471,978 (GRCm39) H74R probably damaging Het
Bpifb9b C T 2: 154,158,995 (GRCm39) T504M probably damaging Het
Cdk12 T G 11: 98,094,817 (GRCm39) S208R probably damaging Het
Cdk5r1 T C 11: 80,368,576 (GRCm39) L81P probably damaging Het
Chrd T C 16: 20,552,025 (GRCm39) L43P probably benign Het
Col6a4 A C 9: 105,949,565 (GRCm39) M690R probably benign Het
Dars2 C T 1: 160,890,357 (GRCm39) V162M probably benign Het
Dixdc1 C T 9: 50,606,807 (GRCm39) V270M possibly damaging Het
Dnah11 C A 12: 117,946,791 (GRCm39) E1194* probably null Het
Dnah7b T C 1: 46,258,508 (GRCm39) S1900P probably damaging Het
Dnah9 C T 11: 65,746,141 (GRCm39) E3991K probably damaging Het
Dsp A T 13: 38,381,681 (GRCm39) I2210F probably benign Het
Ebf1 A G 11: 44,886,949 (GRCm39) S556G probably damaging Het
Enam G A 5: 88,637,514 (GRCm39) probably benign Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Epc1 T C 18: 6,440,168 (GRCm39) D579G probably damaging Het
Ephb3 A T 16: 21,039,525 (GRCm39) I426F probably damaging Het
Fam135b T G 15: 71,317,886 (GRCm39) I1359L probably benign Het
Fcgbpl1 T A 7: 27,856,250 (GRCm39) H2012Q probably damaging Het
Gm16519 T C 17: 71,236,128 (GRCm39) S26P probably benign Het
Gm17622 T A 13: 96,627,594 (GRCm39) probably null Het
Gpat2 G A 2: 127,277,765 (GRCm39) V764I possibly damaging Het
Gpx4 G A 10: 79,890,838 (GRCm39) A81T probably benign Het
Gss C A 2: 155,420,326 (GRCm39) R83L probably damaging Het
Hcls1 C A 16: 36,758,216 (GRCm39) Q36K probably damaging Het
Hepacam2 A G 6: 3,463,336 (GRCm39) V438A probably benign Het
Hnf4a T C 2: 163,401,005 (GRCm39) F184S probably damaging Het
Katnal1 T A 5: 148,855,460 (GRCm39) D90V possibly damaging Het
Kcnt2 A G 1: 140,174,083 (GRCm39) D30G probably benign Het
Kyat1 T C 2: 30,084,087 (GRCm39) E11G probably benign Het
Lefty1 T A 1: 180,764,579 (GRCm39) V168E probably damaging Het
Map2k6 C T 11: 110,387,281 (GRCm39) P218S probably damaging Het
Mlkl C G 8: 112,041,694 (GRCm39) K415N probably benign Het
Myh7 A T 14: 55,211,390 (GRCm39) M1593K probably benign Het
Myo19 T A 11: 84,784,159 (GRCm39) C186S possibly damaging Het
Ngp T C 9: 110,249,069 (GRCm39) L47P probably damaging Het
Nkiras1 A G 14: 18,280,185 (GRCm38) N192S probably benign Het
Or1j17 G A 2: 36,578,628 (GRCm39) V205M probably benign Het
Or2n1 A G 17: 38,486,841 (GRCm39) I289V probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or8u9 T C 2: 86,001,886 (GRCm39) I92V probably benign Het
Pdcd6ip A G 9: 113,514,361 (GRCm39) probably benign Het
Pde4b T C 4: 102,454,707 (GRCm39) Y186H probably benign Het
Pex7 A G 10: 19,780,331 (GRCm39) V101A possibly damaging Het
Phldb3 G A 7: 24,312,004 (GRCm39) R106Q probably benign Het
Plxnc1 A G 10: 94,635,209 (GRCm39) V1339A probably benign Het
Proser1 A G 3: 53,386,383 (GRCm39) N755S probably damaging Het
Ptpn13 A G 5: 103,674,997 (GRCm39) D658G probably damaging Het
Rassf8 A C 6: 145,765,700 (GRCm39) probably benign Het
Rfc4 G A 16: 22,932,849 (GRCm39) Q363* probably null Het
Rxfp1 T C 3: 79,552,282 (GRCm39) N673S probably damaging Het
Scn7a T C 2: 66,556,628 (GRCm39) E319G probably damaging Het
Scnn1g A G 7: 121,345,984 (GRCm39) probably benign Het
Scube2 C T 7: 109,423,971 (GRCm39) probably null Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc6a13 A G 6: 121,301,262 (GRCm39) N184D probably benign Het
Slco1a5 T A 6: 142,182,054 (GRCm39) probably benign Het
Slf1 T A 13: 77,260,867 (GRCm39) probably benign Het
Smarca4 G A 9: 21,612,168 (GRCm39) V1518I probably damaging Het
Smyd3 A G 1: 179,250,993 (GRCm39) probably benign Het
Sox5 A G 6: 144,155,064 (GRCm39) F11L probably benign Het
Spag17 T C 3: 100,014,143 (GRCm39) S2139P probably benign Het
Spice1 A T 16: 44,185,939 (GRCm39) probably benign Het
Sptan1 T A 2: 29,900,704 (GRCm39) probably benign Het
Srebf2 T A 15: 82,066,286 (GRCm39) N571K probably damaging Het
Tbl3 A G 17: 24,920,307 (GRCm39) L670P probably damaging Het
Tmem45a2 A G 16: 56,867,359 (GRCm39) V114A possibly damaging Het
Tmigd3 A G 3: 105,826,053 (GRCm39) N132D possibly damaging Het
Ttn T C 2: 76,567,778 (GRCm39) D19378G probably damaging Het
Ugcg C A 4: 59,189,739 (GRCm39) Y32* probably null Het
Ush2a C T 1: 188,582,301 (GRCm39) P3788L probably damaging Het
Usp22 T A 11: 61,050,023 (GRCm39) probably benign Het
Xaf1 T C 11: 72,197,381 (GRCm39) probably benign Het
Zbtb41 C T 1: 139,374,673 (GRCm39) T711I probably damaging Het
Zfp457 T C 13: 67,442,180 (GRCm39) T132A possibly damaging Het
Zfp64 T G 2: 168,754,150 (GRCm39) 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
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
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'- TGCAAGGATTAGCTGTCCAGCATC -3'
(R):5'- TTCAGACTGCCCATGTGTGAACC -3'

Sequencing Primer
(F):5'- GTCCAGCATCATTTTTAGCTCAGAG -3'
(R):5'- TCCTCTGGCACTAGCAAGTATAG -3'
Posted On 2013-05-09