Incidental Mutation 'IGL02748:Dhcr24'
ID306176
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 #IGL02748
Quality Score
Status
Chromosome4
Chromosomal Location106561038-106589113 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 106564392 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047973]
Predicted Effect probably benign
Transcript: ENSMUST00000047973
SMART Domains Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baiap2l1 T A 5: 144,266,605 probably benign Het
Btbd9 T C 17: 30,334,297 N397S possibly damaging Het
Crlf3 A G 11: 80,059,319 S162P probably damaging Het
Dctn2 C T 10: 127,277,273 R231C probably damaging Het
Efcab12 T A 6: 115,820,102 T364S probably damaging Het
Eps8l3 A G 3: 107,879,368 probably benign Het
Ezh2 A G 6: 47,558,239 L92P probably damaging Het
Fbxw15 A G 9: 109,558,210 I239T possibly damaging Het
Fndc4 T C 5: 31,294,786 T96A possibly damaging Het
Gcn1l1 G A 5: 115,610,800 probably null Het
Ifna13 A G 4: 88,643,860 S176P probably damaging Het
Kcnh1 A G 1: 192,221,420 H56R probably damaging Het
Lrp1b T C 2: 40,702,749 D3786G probably damaging Het
Mcm3ap T A 10: 76,501,248 V1339E probably damaging Het
Mthfd1l T C 10: 4,018,587 V414A possibly damaging Het
Mthfd1l T G 10: 3,980,268 probably null Het
Olfr1118 T A 2: 87,309,665 L312Q probably damaging Het
Olfr1414 A G 1: 92,511,467 L187P probably damaging Het
Olfr262 A G 19: 12,240,840 F274L probably benign Het
Pcdhb15 T C 18: 37,475,220 S502P probably damaging Het
Pde5a T A 3: 122,760,892 N242K probably damaging Het
Pik3cb A T 9: 99,062,968 probably benign Het
Rab3gap1 A G 1: 127,937,461 M729V probably damaging Het
Rai14 A G 15: 10,589,335 V259A probably benign Het
Rassf4 T C 6: 116,639,457 I298V possibly damaging Het
Senp7 C T 16: 56,186,094 T927M probably damaging Het
Snx27 A T 3: 94,503,565 I426N probably benign Het
Syce1l A T 8: 113,655,465 probably benign Het
Tmem18 T C 12: 30,588,745 *141Q probably null Het
Tnrc6c T C 11: 117,732,170 S1006P probably benign Het
Utp20 T C 10: 88,817,295 T308A probably benign Het
Vmn2r24 T A 6: 123,816,098 C795S possibly damaging Het
Zdhhc20 A G 14: 57,858,553 S143P 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
IGL02256:Dhcr24 APN 4 106572320 missense probably damaging 0.98
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