Incidental Mutation 'IGL02256:Dhcr24'
ID286598
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhcr24
Ensembl Gene ENSMUSG00000034926
Gene Name24-dehydrocholesterol reductase
Synonyms2310076D10Rik, seladin-1, 5830417J06Rik, 3-beta-hydroxysterol delta-24 reductase
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.906) question?
Stock #IGL02256
Quality Score
Status
Chromosome4
Chromosomal Location106561038-106589113 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 106572320 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 197 (G197S)
Ref Sequence ENSEMBL: ENSMUSP00000038063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047973]
Predicted Effect probably damaging
Transcript: ENSMUST00000047973
AA Change: G197S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926
AA Change: G197S

DomainStartEndE-ValueType
Pfam:FAD_binding_4 71 203 2e-16 PFAM
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 T A 2: 91,769,054 V173E possibly damaging Het
BC005561 T A 5: 104,520,283 Y890* probably null Het
BC037034 C A 5: 138,260,315 D557Y probably damaging Het
Dennd4c A G 4: 86,799,541 T592A probably damaging Het
Fat1 A G 8: 44,950,332 Y40C probably damaging Het
Fbxl17 A C 17: 63,499,090 C310G probably benign Het
Hdac10 T C 15: 89,125,894 probably benign Het
Hist1h2bg G T 13: 23,571,435 M1I probably null Het
Mcm6 A G 1: 128,335,728 probably null Het
Mrpl19 G A 6: 81,964,319 T87I probably benign Het
Mzf1 A G 7: 13,052,737 probably benign Het
Nhlrc2 A G 19: 56,597,361 E676G probably benign Het
Notch3 T C 17: 32,132,324 D1899G probably damaging Het
Nxph1 A G 6: 9,247,185 D52G probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr171 T C 16: 19,625,006 I31M probably benign Het
Olfr418 A T 1: 173,270,627 I151F probably benign Het
Olfr913 G A 9: 38,594,544 V108I probably benign Het
Olfr918 A T 9: 38,673,480 M1K probably null Het
Olfr980 A G 9: 40,006,053 F299L probably benign Het
Pax6 T C 2: 105,684,770 V54A probably benign Het
Pbx1 A T 1: 168,183,602 H376Q possibly damaging Het
Prpf4b T A 13: 34,899,878 C877S probably damaging Het
Robo3 A G 9: 37,425,353 L373P probably damaging Het
Samd9l G A 6: 3,376,197 R355W probably damaging Het
Smarce1 A T 11: 99,219,380 N127K possibly damaging Het
Sptbn1 T C 11: 30,120,990 I1511V probably benign Het
Stab1 C T 14: 31,141,592 R2071H probably damaging Het
Svep1 A T 4: 58,070,311 C2492S possibly damaging Het
Tbr1 C A 2: 61,804,874 T56N probably damaging Het
Tlr6 T C 5: 64,954,944 T207A probably benign Het
Tmem241 A G 18: 12,113,432 W54R probably damaging Het
Tmem87a A G 2: 120,377,896 V326A probably damaging Het
Uroc1 A G 6: 90,346,687 D372G possibly damaging Het
Zc3h7a A C 16: 11,147,276 S664R probably benign Het
Other mutations in Dhcr24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Dhcr24 APN 4 106572278 missense possibly damaging 0.50
IGL01548:Dhcr24 APN 4 106573871 nonsense probably null
IGL02110:Dhcr24 APN 4 106573801 missense probably damaging 1.00
IGL02748:Dhcr24 APN 4 106564392 splice site probably benign
IGL02926:Dhcr24 APN 4 106586355 missense probably damaging 0.98
ANU22:Dhcr24 UTSW 4 106572278 missense possibly damaging 0.50
R0423:Dhcr24 UTSW 4 106586536 unclassified probably benign
R1632:Dhcr24 UTSW 4 106585951 missense probably benign
R1771:Dhcr24 UTSW 4 106578253 missense probably benign 0.00
R2138:Dhcr24 UTSW 4 106572302 nonsense probably null
R2139:Dhcr24 UTSW 4 106572302 nonsense probably null
R2420:Dhcr24 UTSW 4 106561094 start gained probably benign
R2422:Dhcr24 UTSW 4 106561094 start gained probably benign
R2570:Dhcr24 UTSW 4 106585832 missense probably benign 0.00
R3176:Dhcr24 UTSW 4 106561239 missense probably benign 0.16
R3276:Dhcr24 UTSW 4 106561239 missense probably benign 0.16
R3842:Dhcr24 UTSW 4 106585805 missense probably damaging 1.00
R3852:Dhcr24 UTSW 4 106573873 missense probably benign 0.02
R4037:Dhcr24 UTSW 4 106573878 missense probably benign 0.01
R4038:Dhcr24 UTSW 4 106573878 missense probably benign 0.01
R4039:Dhcr24 UTSW 4 106573878 missense probably benign 0.01
R5831:Dhcr24 UTSW 4 106564414 missense probably benign 0.03
R7285:Dhcr24 UTSW 4 106571519 critical splice donor site probably null
R7821:Dhcr24 UTSW 4 106571436 missense possibly damaging 0.61
R8012:Dhcr24 UTSW 4 106586656 missense probably damaging 1.00
X0057:Dhcr24 UTSW 4 106586345 missense probably benign 0.00
Posted On2015-04-16