Incidental Mutation 'R7285:Dhcr24'
ID 565926
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 045393-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.872) question?
Stock # R7285 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 106418279-106446310 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 106428716 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 null
Transcript: ENSMUST00000047973
SMART Domains Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926

Pfam:FAD_binding_4 71 203 2e-16 PFAM
Meta Mutation Damage Score 0.9596 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,388,314 (GRCm39) C185* probably null Het
Abcc3 C T 11: 94,247,873 (GRCm39) A1207T probably benign Het
Adam1b T G 5: 121,639,056 (GRCm39) D663A probably damaging Het
Arhgap12 A T 18: 6,111,920 (GRCm39) L148Q probably damaging Het
Cdh4 A T 2: 179,439,258 (GRCm39) Q135L probably benign Het
Clca3b T C 3: 144,543,519 (GRCm39) I437V probably benign Het
Cldn15 A T 5: 137,001,327 (GRCm39) H124L probably benign Het
Cyp4a30b T C 4: 115,313,848 (GRCm39) M143T probably damaging Het
Dgcr2 A T 16: 17,662,944 (GRCm39) C353* probably null Het
Dock1 T G 7: 134,346,737 (GRCm39) L223R probably benign Het
Ece1 T A 4: 137,641,074 (GRCm39) probably null Het
Efcab5 A G 11: 77,028,170 (GRCm39) V387A probably benign Het
Efcab5 A G 11: 77,029,041 (GRCm39) F97L possibly damaging Het
Eme2 A T 17: 25,113,543 (GRCm39) probably null Het
Enpp1 G A 10: 24,536,059 (GRCm39) T447I probably benign Het
Fam222b T C 11: 78,034,007 (GRCm39) S17P probably benign Het
Fbln1 A G 15: 85,121,829 (GRCm39) I317V probably benign Het
Fn1 T C 1: 71,676,498 (GRCm39) K578E probably damaging Het
Fscb A T 12: 64,518,323 (GRCm39) S1048T unknown Het
Fsd1l T A 4: 53,682,200 (GRCm39) probably null Het
Hexa T A 9: 59,471,222 (GRCm39) I492K probably benign Het
Inpp5e G A 2: 26,287,870 (GRCm39) A642V probably benign Het
Ints11 C T 4: 155,970,568 (GRCm39) A241V probably damaging Het
Irs2 A G 8: 11,056,797 (GRCm39) L545P probably damaging Het
Katnal2 G A 18: 77,081,271 (GRCm39) A409V probably benign Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lbx2 A G 6: 83,064,877 (GRCm39) K138R probably damaging Het
Lcor A G 19: 41,572,754 (GRCm39) K503R possibly damaging Het
Lpp G A 16: 24,796,029 (GRCm39) A558T probably damaging Het
Lypla1 T C 1: 4,911,321 (GRCm39) I202T probably benign Het
Magi3 G A 3: 103,941,430 (GRCm39) P842S probably benign Het
Meioc G A 11: 102,557,168 (GRCm39) V25M probably benign Het
Mthfr C T 4: 148,138,056 (GRCm39) T557I probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Or2t44 T A 11: 58,677,310 (GRCm39) Y83* probably null Het
Or5d20-ps1 A T 2: 87,932,049 (GRCm39) I94N probably damaging Het
Osbpl10 A T 9: 115,052,771 (GRCm39) I440F probably damaging Het
Otx2 G A 14: 48,898,922 (GRCm39) A36V probably benign Het
Parg A G 14: 31,932,465 (GRCm39) Y435C probably damaging Het
Parvb A T 15: 84,166,985 (GRCm39) D100V possibly damaging Het
Prss27 A G 17: 24,264,665 (GRCm39) H276R probably benign Het
Prune1 T A 3: 95,162,357 (GRCm39) S439C probably damaging Het
Pudp C G 18: 50,701,287 (GRCm39) E149Q possibly damaging Het
Qng1 T C 13: 58,532,199 (GRCm39) Y119C probably damaging Het
Sin3a C A 9: 57,034,583 (GRCm39) T1252N possibly damaging Het
Sptbn2 A G 19: 4,787,471 (GRCm39) D927G probably benign Het
Stx18 C T 5: 38,262,251 (GRCm39) T89I possibly damaging Het
Ticrr T C 7: 79,310,610 (GRCm39) S175P possibly damaging Het
Tinag T C 9: 76,952,943 (GRCm39) T14A probably benign Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Trpm1 G T 7: 63,859,729 (GRCm39) E396* probably null Het
Txndc11 A G 16: 10,902,163 (GRCm39) Y684H probably damaging Het
Usp47 G A 7: 111,692,315 (GRCm39) E926K probably benign Het
Vmn1r233 A G 17: 21,214,221 (GRCm39) I243T probably damaging Het
Ythdf3 T A 3: 16,258,049 (GRCm39) probably null Het
Zfp12 A G 5: 143,230,444 (GRCm39) K289R probably damaging Het
Zfp950 T A 19: 61,107,550 (GRCm39) H511L probably benign 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
R2420:Dhcr24 UTSW 4 106,418,291 (GRCm39) start gained probably benign
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
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 PCR Primer

Sequencing Primer
Posted On 2019-06-26