Incidental Mutation 'IGL02851:Sc5d'
ID 361865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sc5d
Ensembl Gene ENSMUSG00000032018
Gene Name sterol-C5-desaturase
Synonyms A830073K23Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02851
Quality Score
Status
Chromosome 9
Chromosomal Location 42162891-42175552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42166690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 283 (N283S)
Ref Sequence ENSEMBL: ENSMUSP00000130438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052725] [ENSMUST00000169609] [ENSMUST00000217513]
AlphaFold O88822
Predicted Effect probably benign
Transcript: ENSMUST00000052725
AA Change: N283S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000057354
Gene: ENSMUSG00000032018
AA Change: N283S

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
Pfam:FA_hydroxylase 123 234 9.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169609
AA Change: N283S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000130438
Gene: ENSMUSG00000032018
AA Change: N283S

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
Pfam:FA_hydroxylase 123 253 6.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217513
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 an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice died perinatally with increased lathosterol and decreased cholesterol levels. Additionaly, mutant mice presented with bone malformations of the limbs and skull. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 T C 12: 112,623,518 (GRCm39) E314G probably damaging Het
Amtn C A 5: 88,529,481 (GRCm39) Q106K probably benign Het
Birc6 T C 17: 74,916,184 (GRCm39) F1700S probably damaging Het
Brdt T C 5: 107,525,861 (GRCm39) S905P possibly damaging Het
Ccdc68 C T 18: 70,080,236 (GRCm39) Q194* probably null Het
Cdc27 A G 11: 104,417,807 (GRCm39) probably benign Het
Cdh13 A G 8: 119,401,897 (GRCm39) T100A probably benign Het
Cdsn A G 17: 35,866,791 (GRCm39) H440R possibly damaging Het
Cenpf C A 1: 189,390,227 (GRCm39) D1202Y probably damaging Het
Chat C A 14: 32,180,570 (GRCm39) V21L probably benign Het
Clca4c-ps T A 3: 144,585,493 (GRCm39) noncoding transcript Het
Cst9 A G 2: 148,677,203 (GRCm39) I25V probably benign Het
Dennd1b C A 1: 139,096,705 (GRCm39) probably benign Het
Dnah9 A G 11: 65,928,570 (GRCm39) probably benign Het
Dpp3 T G 19: 4,973,159 (GRCm39) Q145P probably benign Het
Elovl5 C T 9: 77,888,784 (GRCm39) T217M probably damaging Het
Etl4 T C 2: 20,812,840 (GRCm39) V906A possibly damaging Het
Gm10647 C T 9: 66,705,543 (GRCm39) probably benign Het
Grm5 A G 7: 87,723,918 (GRCm39) N736S probably damaging Het
Hectd1 A G 12: 51,814,423 (GRCm39) S1638P possibly damaging Het
Hsd3b2 T G 3: 98,623,740 (GRCm39) E46A possibly damaging Het
Igkv15-103 A G 6: 68,414,674 (GRCm39) T38A probably benign Het
Itpr2 C A 6: 146,287,477 (GRCm39) V450L probably damaging Het
Kbtbd12 T C 6: 88,595,311 (GRCm39) H173R probably benign Het
Man1a G A 10: 53,795,340 (GRCm39) R638W probably damaging Het
Mterf2 A T 10: 84,955,878 (GRCm39) S249T probably damaging Het
Muc6 T C 7: 141,234,627 (GRCm39) D700G probably damaging Het
Myh13 A G 11: 67,239,742 (GRCm39) H764R possibly damaging Het
Myh7b A G 2: 155,470,747 (GRCm39) D1065G probably damaging Het
Naip1 C A 13: 100,569,770 (GRCm39) W288L probably damaging Het
Naip6 C A 13: 100,437,168 (GRCm39) A452S probably benign Het
Nop2 A C 6: 125,121,048 (GRCm39) K610T possibly damaging Het
Nop2 G T 6: 125,121,033 (GRCm39) G605V probably benign Het
Npvf G A 6: 50,629,670 (GRCm39) R107W probably benign Het
Or10h28 T A 17: 33,488,328 (GRCm39) I210K probably benign Het
Or2h2 T C 17: 37,397,048 (GRCm39) probably null Het
Os9 G A 10: 126,935,262 (GRCm39) probably benign Het
Parp4 T C 14: 56,886,326 (GRCm39) S1802P unknown Het
Piezo2 G A 18: 63,153,704 (GRCm39) S2547F probably benign Het
Plekha7 G T 7: 115,734,413 (GRCm39) A1024E probably damaging Het
R3hdm1 T C 1: 128,102,677 (GRCm39) probably benign Het
Robo4 T C 9: 37,324,678 (GRCm39) S1022P probably damaging Het
Scn10a C T 9: 119,500,674 (GRCm39) V202M probably damaging Het
Slco1a8 C T 6: 141,949,197 (GRCm39) G60R probably damaging Het
Spag16 T C 1: 70,304,067 (GRCm39) I366T possibly damaging Het
Sptbn4 G A 7: 27,126,258 (GRCm39) R222C possibly damaging Het
Tlr9 C T 9: 106,101,929 (GRCm39) Q407* probably null Het
Trappc12 G A 12: 28,741,405 (GRCm39) S768L probably damaging Het
Vmn2r44 A T 7: 8,386,050 (GRCm39) L63Q probably damaging Het
Zfy2 C T Y: 2,106,894 (GRCm39) G580D probably benign Het
Zfy2 T A Y: 2,117,188 (GRCm39) H213L probably benign Het
Other mutations in Sc5d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01765:Sc5d APN 9 42,167,464 (GRCm39) missense probably damaging 1.00
IGL01967:Sc5d APN 9 42,169,930 (GRCm39) missense possibly damaging 0.94
R0116:Sc5d UTSW 9 42,171,155 (GRCm39) nonsense probably null
R1520:Sc5d UTSW 9 42,169,946 (GRCm39) missense probably benign 0.02
R2171:Sc5d UTSW 9 42,166,682 (GRCm39) missense probably benign 0.01
R3052:Sc5d UTSW 9 42,166,866 (GRCm39) missense probably damaging 1.00
R4685:Sc5d UTSW 9 42,169,946 (GRCm39) missense probably benign 0.02
R4885:Sc5d UTSW 9 42,166,922 (GRCm39) missense probably benign 0.05
R5138:Sc5d UTSW 9 42,166,811 (GRCm39) missense probably damaging 1.00
R6244:Sc5d UTSW 9 42,166,717 (GRCm39) missense probably benign 0.00
R6940:Sc5d UTSW 9 42,166,723 (GRCm39) missense probably benign 0.00
R8192:Sc5d UTSW 9 42,171,094 (GRCm39) missense probably benign 0.01
R9566:Sc5d UTSW 9 42,170,008 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18