Incidental Mutation 'R2420:Dhcr24'
ID 266151
Institutional Source Beutler Lab
Gene Symbol Dhcr24
Ensembl Gene ENSMUSG00000034926
Gene Name 24-dehydrocholesterol reductase
Synonyms 5830417J06Rik, seladin-1, 2310076D10Rik, 3-beta-hydroxysterol delta-24 reductase
MMRRC Submission 040382-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.872) question?
Stock # R2420 (G1)
Quality Score 106
Status Not validated
Chromosome 4
Chromosomal Location 106418279-106446310 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to T at 106418291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047973]
AlphaFold Q8VCH6
Predicted Effect probably benign
Transcript: ENSMUST00000047973
SMART Domains Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926

Pfam:FAD_binding_4 71 203 2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137882
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: In spite of having almost no plasma or tissue cholesterol, homozygous mutant mice are largely viable and display a mild growth phenotype. Inactivation did impair prenatal viability as well as infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,270,921 (GRCm39) K48R probably damaging Het
Acsm2 T C 7: 119,162,857 (GRCm39) F44L probably damaging Het
Actr5 T C 2: 158,478,001 (GRCm39) F457S probably damaging Het
Adamts3 A G 5: 89,831,034 (GRCm39) S1007P probably damaging Het
Ahnak C T 19: 8,986,620 (GRCm39) P2635S possibly damaging Het
Ankrd17 A T 5: 90,437,179 (GRCm39) D555E possibly damaging Het
Arhgap29 A G 3: 121,767,629 (GRCm39) I24V probably benign Het
Atxn2 A T 5: 121,940,142 (GRCm39) probably null Het
Birc6 T A 17: 74,967,609 (GRCm39) L301Q probably damaging Het
Ccdc137 G A 11: 120,353,090 (GRCm39) probably null Het
Ccdc18 A C 5: 108,376,454 (GRCm39) E1298D probably damaging Het
Chst9 A T 18: 15,585,341 (GRCm39) N407K probably damaging Het
Cwf19l2 A G 9: 3,411,341 (GRCm39) K73E possibly damaging Het
Dnajc21 A G 15: 10,462,021 (GRCm39) S127P probably benign Het
Egln1 T C 8: 125,674,985 (GRCm39) N270S probably benign Het
Eme1 A G 11: 94,536,640 (GRCm39) probably null Het
Emilin2 A G 17: 71,581,274 (GRCm39) I484T possibly damaging Het
Entpd2 T C 2: 25,289,295 (GRCm39) I259T probably benign Het
Fbp1 T C 13: 63,019,120 (GRCm39) K24E probably benign Het
Fga A T 3: 82,940,461 (GRCm39) N705I possibly damaging Het
Gas1 G T 13: 60,324,744 (GRCm39) probably benign Het
Glrb A G 3: 80,767,542 (GRCm39) I226T probably damaging Het
Gm17421 T A 12: 113,333,107 (GRCm39) noncoding transcript Het
Gm44501 A T 17: 40,889,600 (GRCm39) H38L possibly damaging Het
H2-M10.5 A G 17: 37,085,891 (GRCm39) I308V probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Jcad T C 18: 4,675,952 (GRCm39) M1238T probably damaging Het
Kank1 T C 19: 25,387,821 (GRCm39) L498S probably damaging Het
Krt10 G A 11: 99,277,933 (GRCm39) T338I possibly damaging Het
Krt13 A T 11: 100,010,877 (GRCm39) L159Q probably benign Het
Lama1 A T 17: 68,057,548 (GRCm39) M541L probably benign Het
Lilra6 A G 7: 3,917,857 (GRCm39) Y96H probably damaging Het
Ltc4s A G 11: 50,128,166 (GRCm39) probably null Het
Ly6g6e G A 17: 35,297,122 (GRCm39) R121Q probably benign Het
Mfn1 A G 3: 32,623,664 (GRCm39) I263V probably benign Het
Mmaa T A 8: 80,008,061 (GRCm39) R59W probably damaging Het
Mug2 C A 6: 122,060,419 (GRCm39) T1385K probably damaging Het
Mypn G T 10: 63,028,648 (GRCm39) Y138* probably null Het
Nav3 A C 10: 109,699,674 (GRCm39) S273R probably damaging Het
Ndufaf1 T C 2: 119,486,218 (GRCm39) E298G probably damaging Het
Or10d5 A G 9: 39,861,824 (GRCm39) L81P possibly damaging Het
Or4c114 T C 2: 88,905,336 (GRCm39) Y33C possibly damaging Het
Or4k42 T C 2: 111,319,602 (GRCm39) probably null Het
Or5k15 T C 16: 58,710,328 (GRCm39) E85G probably benign Het
Or5p51 T C 7: 107,444,025 (GRCm39) K305R probably benign Het
Pak1 A T 7: 97,503,686 (GRCm39) D7V probably benign Het
Pax3 A T 1: 78,173,501 (GRCm39) probably null Het
Plekhg1 G A 10: 3,908,048 (GRCm39) M988I probably benign Het
Prickle1 A G 15: 93,401,518 (GRCm39) F322S probably damaging Het
Prl8a2 A G 13: 27,532,896 (GRCm39) E36G possibly damaging Het
Prss45 A G 9: 110,668,160 (GRCm39) I118V possibly damaging Het
Psd4 T G 2: 24,291,253 (GRCm39) V597G probably damaging Het
Psmb10 A G 8: 106,663,934 (GRCm39) S108P probably benign Het
Pttg1ip2 T C 5: 5,505,912 (GRCm39) Y123C probably benign Het
Shank3 A T 15: 89,405,413 (GRCm39) K455* probably null Het
Spag17 T A 3: 99,934,935 (GRCm39) W714R probably benign Het
Synrg A G 11: 83,900,050 (GRCm39) E674G probably damaging Het
Tep1 T A 14: 51,071,480 (GRCm39) H2055L probably benign Het
Terb1 T C 8: 105,225,227 (GRCm39) T14A probably damaging Het
Tmub2 T A 11: 102,178,581 (GRCm39) D161E probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Tyr T A 7: 87,078,397 (GRCm39) I488F probably benign Het
Uba6 A G 5: 86,280,475 (GRCm39) probably null Het
Unc13c T C 9: 73,838,829 (GRCm39) Y674C probably damaging Het
Vmn2r105 T A 17: 20,448,097 (GRCm39) R242S probably benign Het
Vmn2r12 A G 5: 109,234,398 (GRCm39) Y605H probably benign Het
Wnk1 A G 6: 119,913,328 (GRCm39) probably null Het
Zfhx4 C A 3: 5,455,465 (GRCm39) A1153E probably benign Het
Zfp13 A C 17: 23,795,186 (GRCm39) Y462D probably damaging Het
Zfp644 A G 5: 106,785,110 (GRCm39) M479T possibly damaging Het
Other mutations in Dhcr24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Dhcr24 APN 4 106,429,475 (GRCm39) missense possibly damaging 0.50
IGL01548:Dhcr24 APN 4 106,431,068 (GRCm39) nonsense probably null
IGL02110:Dhcr24 APN 4 106,430,998 (GRCm39) missense probably damaging 1.00
IGL02256:Dhcr24 APN 4 106,429,517 (GRCm39) missense probably damaging 0.98
IGL02748:Dhcr24 APN 4 106,421,589 (GRCm39) splice site probably benign
IGL02926:Dhcr24 APN 4 106,443,552 (GRCm39) missense probably damaging 0.98
ANU22:Dhcr24 UTSW 4 106,429,475 (GRCm39) missense possibly damaging 0.50
R0423:Dhcr24 UTSW 4 106,443,733 (GRCm39) unclassified probably benign
R1632:Dhcr24 UTSW 4 106,443,148 (GRCm39) missense probably benign
R1771:Dhcr24 UTSW 4 106,435,450 (GRCm39) missense probably benign 0.00
R2138:Dhcr24 UTSW 4 106,429,499 (GRCm39) nonsense probably null
R2139:Dhcr24 UTSW 4 106,429,499 (GRCm39) nonsense probably null
R2422:Dhcr24 UTSW 4 106,418,291 (GRCm39) start gained probably benign
R2570:Dhcr24 UTSW 4 106,443,029 (GRCm39) missense probably benign 0.00
R3176:Dhcr24 UTSW 4 106,418,436 (GRCm39) missense probably benign 0.16
R3276:Dhcr24 UTSW 4 106,418,436 (GRCm39) missense probably benign 0.16
R3842:Dhcr24 UTSW 4 106,443,002 (GRCm39) missense probably damaging 1.00
R3852:Dhcr24 UTSW 4 106,431,070 (GRCm39) missense probably benign 0.02
R4037:Dhcr24 UTSW 4 106,431,075 (GRCm39) missense probably benign 0.01
R4038:Dhcr24 UTSW 4 106,431,075 (GRCm39) missense probably benign 0.01
R4039:Dhcr24 UTSW 4 106,431,075 (GRCm39) missense probably benign 0.01
R5831:Dhcr24 UTSW 4 106,421,611 (GRCm39) missense probably benign 0.03
R7285:Dhcr24 UTSW 4 106,428,716 (GRCm39) critical splice donor site probably null
R7821:Dhcr24 UTSW 4 106,428,633 (GRCm39) missense possibly damaging 0.61
R8012:Dhcr24 UTSW 4 106,443,853 (GRCm39) missense probably damaging 1.00
R8879:Dhcr24 UTSW 4 106,431,006 (GRCm39) missense probably benign 0.05
X0057:Dhcr24 UTSW 4 106,443,542 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2015-02-05