Incidental Mutation 'IGL01548:Dhcr24'
ID 93202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhcr24
Ensembl Gene ENSMUSG00000034926
Gene Name 24-dehydrocholesterol reductase
Synonyms 5830417J06Rik, seladin-1, 2310076D10Rik, 3-beta-hydroxysterol delta-24 reductase
Accession Numbers
Essential gene? Probably essential (E-score: 0.872) question?
Stock # IGL01548
Quality Score
Status
Chromosome 4
Chromosomal Location 106418279-106446310 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 106431068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 252 (C252*)
Ref Sequence ENSEMBL: ENSMUSP00000038063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047973]
AlphaFold Q8VCH6
Predicted Effect probably null
Transcript: ENSMUST00000047973
AA Change: C252*
SMART Domains Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926
AA Change: C252*

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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot3 C T 12: 84,103,863 (GRCm39) T224I probably benign Het
Adamts18 C T 8: 114,490,931 (GRCm39) G512E probably damaging Het
Atp4b A G 8: 13,439,679 (GRCm39) I181T probably damaging Het
Bcl11a A G 11: 24,113,346 (GRCm39) I230V probably benign Het
Cenpj C A 14: 56,769,776 (GRCm39) V1138L probably benign Het
Cep78 A G 19: 15,958,564 (GRCm39) probably benign Het
Clec2j T A 6: 128,632,941 (GRCm39) noncoding transcript Het
Col5a3 T C 9: 20,714,296 (GRCm39) probably benign Het
Cpne6 A T 14: 55,750,183 (GRCm39) T105S probably damaging Het
Csmd1 A T 8: 16,338,660 (GRCm39) Y482* probably null Het
Ctrl C A 8: 106,659,890 (GRCm39) probably benign Het
Dnaaf9 T C 2: 130,656,179 (GRCm39) N110D probably damaging Het
Dnah17 G A 11: 117,989,438 (GRCm39) P1261S probably benign Het
Dnai2 T C 11: 114,643,768 (GRCm39) L466P probably damaging Het
Dync2h1 A T 9: 7,071,922 (GRCm39) F3036Y probably damaging Het
Eef1akmt2 A C 7: 132,433,134 (GRCm39) S191A probably damaging Het
Fat4 G A 3: 39,063,406 (GRCm39) C4454Y probably damaging Het
Fat4 T C 3: 38,941,907 (GRCm39) S267P probably damaging Het
Frrs1 T C 3: 116,678,834 (GRCm39) C219R probably damaging Het
Gabra6 T A 11: 42,207,850 (GRCm39) Q207L probably damaging Het
Gm19668 A T 10: 77,634,242 (GRCm39) C242* probably null Het
Gm2840 G A 5: 96,322,136 (GRCm39) noncoding transcript Het
Gmcl1p1 G A X: 3,078,226 (GRCm39) G423S probably benign Het
Golim4 C T 3: 75,815,432 (GRCm39) probably null Het
Gucy1b1 G T 3: 81,942,169 (GRCm39) T530K probably damaging Het
Hacl1 A T 14: 31,362,553 (GRCm39) D31E possibly damaging Het
Hectd4 A G 5: 121,502,723 (GRCm39) T4276A possibly damaging Het
Henmt1 T C 3: 108,850,095 (GRCm39) I26T probably damaging Het
Hspa1l G A 17: 35,197,367 (GRCm39) A469T probably damaging Het
Htra3 T A 5: 35,821,420 (GRCm39) probably null Het
Lrrc28 C A 7: 67,278,042 (GRCm39) probably null Het
Mfhas1 T C 8: 36,057,613 (GRCm39) L696P probably damaging Het
Mios A G 6: 8,234,252 (GRCm39) K808E possibly damaging Het
Mtnr1b A G 9: 15,774,496 (GRCm39) Y188H probably damaging Het
Myom1 A G 17: 71,408,215 (GRCm39) probably benign Het
Naca A T 10: 127,876,773 (GRCm39) probably benign Het
Nckap1l T A 15: 103,371,147 (GRCm39) V213D probably benign Het
Ndufa6 C T 15: 82,238,282 (GRCm39) V50M possibly damaging Het
Or4c35 T A 2: 89,808,883 (GRCm39) F254I possibly damaging Het
Or5b111 A G 19: 13,291,350 (GRCm39) F100L possibly damaging Het
Or5g23 A G 2: 85,439,105 (GRCm39) W50R probably benign Het
Or8b56 A G 9: 38,739,646 (GRCm39) T220A probably benign Het
Or8k53 T A 2: 86,178,077 (GRCm39) Y11F possibly damaging Het
Osbpl1a T C 18: 12,896,632 (GRCm39) Y311C probably damaging Het
Parp11 A C 6: 127,468,562 (GRCm39) Y204S probably damaging Het
Pla2g4a A G 1: 149,808,407 (GRCm39) probably null Het
Plec T C 15: 76,073,458 (GRCm39) R519G probably benign Het
Ppp2r5c T A 12: 110,534,261 (GRCm39) Y375N probably benign Het
Prss35 C A 9: 86,637,327 (GRCm39) S32R probably benign Het
Prss57 C T 10: 79,621,581 (GRCm39) probably benign Het
Ptprc A C 1: 138,027,219 (GRCm39) probably null Het
Rims1 A G 1: 22,577,683 (GRCm39) C188R probably damaging Het
Ripk4 G T 16: 97,552,696 (GRCm39) Y144* probably null Het
Rpgrip1 A T 14: 52,363,728 (GRCm39) probably benign Het
Rps6ka4 A G 19: 6,809,691 (GRCm39) V378A probably benign Het
Rtf1 A G 2: 119,542,589 (GRCm39) K298E probably benign Het
Sdk1 T C 5: 142,071,520 (GRCm39) F1237L possibly damaging Het
Slc40a1 T C 1: 45,948,652 (GRCm39) K543E probably benign Het
Slco1a8 A G 6: 141,938,238 (GRCm39) I227T possibly damaging Het
Sorcs3 A T 19: 48,782,607 (GRCm39) I1041F possibly damaging Het
Spata31e4 A G 13: 50,854,414 (GRCm39) T91A probably benign Het
Spata31f3 T C 4: 42,868,564 (GRCm39) E353G probably benign Het
Taok3 T C 5: 117,410,262 (GRCm39) M818T probably benign Het
Tas2r119 T A 15: 32,178,123 (GRCm39) F230I probably damaging Het
Tbc1d8 T C 1: 39,420,385 (GRCm39) D716G probably damaging Het
Tfg A G 16: 56,521,465 (GRCm39) S58P probably damaging Het
Thnsl1 A G 2: 21,217,943 (GRCm39) I45V probably damaging Het
Tle1 A G 4: 72,088,955 (GRCm39) L96P probably damaging Het
Tmem260 A C 14: 48,717,782 (GRCm39) S276R possibly damaging Het
Utp20 A G 10: 88,600,643 (GRCm39) S24P probably damaging Het
Vcam1 T C 3: 115,909,600 (GRCm39) I576V probably benign Het
Vmn1r27 G T 6: 58,192,538 (GRCm39) N105K probably benign Het
Vmn2r12 A C 5: 109,240,893 (GRCm39) Y73* probably null Het
Vmn2r86 T C 10: 130,282,151 (GRCm39) I822V probably benign Het
Wdr6 C T 9: 108,452,096 (GRCm39) V596I possibly damaging Het
Zfp946 A T 17: 22,673,643 (GRCm39) K132N possibly damaging Het
Other mutations in Dhcr24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Dhcr24 APN 4 106,429,475 (GRCm39) missense possibly damaging 0.50
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
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
Posted On 2013-12-09