Incidental Mutation 'IGL01765:Sc5d'
ID 153309
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 # IGL01765
Quality Score
Status
Chromosome 9
Chromosomal Location 42162891-42175552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42167464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 128 (F128S)
Ref Sequence ENSEMBL: ENSMUSP00000130438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052725] [ENSMUST00000169609] [ENSMUST00000217513]
AlphaFold O88822
Predicted Effect probably damaging
Transcript: ENSMUST00000052725
AA Change: F128S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057354
Gene: ENSMUSG00000032018
AA Change: F128S

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 damaging
Transcript: ENSMUST00000169609
AA Change: F128S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130438
Gene: ENSMUSG00000032018
AA Change: F128S

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 damaging
Transcript: ENSMUST00000217513
AA Change: F128S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 43,030,426 (GRCm39) M11K probably benign Het
Agap2 T C 10: 126,919,104 (GRCm39) V442A unknown Het
Cdh20 C T 1: 109,988,836 (GRCm39) T246I probably damaging Het
Creb3l1 T C 2: 91,854,446 (GRCm39) D2G possibly damaging Het
Dicer1 G A 12: 104,672,999 (GRCm39) R811C probably damaging Het
Drosha C A 15: 12,902,766 (GRCm39) A1012E probably damaging Het
Eftud2 A G 11: 102,730,082 (GRCm39) I896T probably damaging Het
Fastkd5 T C 2: 130,457,654 (GRCm39) Y312C possibly damaging Het
Flt3 A G 5: 147,294,788 (GRCm39) F428L probably benign Het
Hrh4 G A 18: 13,140,252 (GRCm39) R49Q probably damaging Het
Lrp6 T C 6: 134,433,108 (GRCm39) T1408A probably damaging Het
Lsg1 T C 16: 30,400,913 (GRCm39) E132G probably damaging Het
Ltf T C 9: 110,851,085 (GRCm39) V99A possibly damaging Het
Mettl13 A T 1: 162,366,522 (GRCm39) D452E probably benign Het
Ndufa7 G T 17: 34,048,786 (GRCm39) E83* probably null Het
Nmrk1 C T 19: 18,616,902 (GRCm39) T17M probably damaging Het
Ntsr1 A G 2: 180,180,510 (GRCm39) E272G possibly damaging Het
Obscn T C 11: 59,006,610 (GRCm39) K1184R possibly damaging Het
Or10z1 T G 1: 174,077,703 (GRCm39) K263N probably damaging Het
Or11j4 A T 14: 50,630,291 (GRCm39) Q26L probably benign Het
Or1e21 A C 11: 73,344,303 (GRCm39) L245R probably damaging Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or4a68 C T 2: 89,270,144 (GRCm39) V160I probably benign Het
Or7e170 A T 9: 19,795,247 (GRCm39) M118K possibly damaging Het
Pcdhb10 A G 18: 37,547,072 (GRCm39) K716R probably benign Het
Phldb3 A G 7: 24,316,800 (GRCm39) D267G possibly damaging Het
Plcb2 T A 2: 118,540,749 (GRCm39) probably benign Het
Pramel17 T C 4: 101,695,049 (GRCm39) I87M probably benign Het
Pusl1 A G 4: 155,974,170 (GRCm39) F219L probably damaging Het
Rbbp6 T C 7: 122,599,177 (GRCm39) probably benign Het
Rev3l T A 10: 39,704,261 (GRCm39) D228E probably benign Het
Rnf213 A T 11: 119,327,178 (GRCm39) M1723L probably benign Het
Sco1 T C 11: 66,944,616 (GRCm39) S80P probably damaging Het
Supt16 C T 14: 52,417,680 (GRCm39) R278H probably damaging Het
Supt6 A G 11: 78,112,985 (GRCm39) I986T probably benign Het
Trio A G 15: 27,764,112 (GRCm39) V860A possibly damaging Het
Uck1 A G 2: 32,148,688 (GRCm39) probably benign Het
Vmn2r63 T C 7: 42,552,788 (GRCm39) T823A probably benign Het
Other mutations in Sc5d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01967:Sc5d APN 9 42,169,930 (GRCm39) missense possibly damaging 0.94
IGL02851:Sc5d APN 9 42,166,690 (GRCm39) missense probably benign 0.00
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 2014-02-04