Incidental Mutation 'R4685:Sc5d'
ID 353611
Institutional Source Beutler Lab
Gene Symbol Sc5d
Ensembl Gene ENSMUSG00000032018
Gene Name sterol-C5-desaturase
Synonyms A830073K23Rik
MMRRC Submission 041936-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4685 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 42162891-42175552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 42169946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 92 (V92I)
Ref Sequence ENSEMBL: ENSMUSP00000149891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052725] [ENSMUST00000169609] [ENSMUST00000217513]
AlphaFold O88822
Predicted Effect probably benign
Transcript: ENSMUST00000052725
AA Change: V92I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000057354
Gene: ENSMUSG00000032018
AA Change: V92I

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: V92I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000130438
Gene: ENSMUSG00000032018
AA Change: V92I

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
AA Change: V92I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.1684 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (71/73)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik T C 12: 17,057,185 (GRCm39) D104G probably damaging Het
2810021J22Rik T C 11: 58,771,750 (GRCm39) S411P probably damaging Het
Adcy2 T C 13: 68,876,024 (GRCm39) R493G probably benign Het
Adcy8 A G 15: 64,609,287 (GRCm39) I874T probably benign Het
Ano2 G T 6: 125,957,087 (GRCm39) E619* probably null Het
Apob A G 12: 8,056,456 (GRCm39) K1613R probably benign Het
Arhgef10 T A 8: 15,006,963 (GRCm39) F476Y probably damaging Het
Bmf G A 2: 118,377,283 (GRCm39) A74V probably damaging Het
Cadps T C 14: 12,467,139 (GRCm38) E925G possibly damaging Het
Ccdc162 T C 10: 41,557,682 (GRCm39) D181G possibly damaging Het
Ccdc85c A T 12: 108,173,434 (GRCm39) C387S probably benign Het
Cntnap5a T C 1: 116,374,410 (GRCm39) V974A possibly damaging Het
Cplx3 T A 9: 57,516,483 (GRCm39) I407F probably damaging Het
Dnah7b T C 1: 46,250,488 (GRCm39) F1703S probably damaging Het
Dsg3 C A 18: 20,672,793 (GRCm39) D821E probably benign Het
Ecel1 G T 1: 87,080,668 (GRCm39) probably null Het
Edn1 A T 13: 42,458,729 (GRCm39) probably null Het
Egfr G A 11: 16,808,980 (GRCm39) C58Y probably damaging Het
Fam184a T C 10: 53,574,596 (GRCm39) N282D probably benign Het
Fhit T A 14: 9,870,091 (GRCm38) Q63L probably damaging Het
Gabarapl2 T C 8: 112,669,150 (GRCm39) V36A probably benign Het
Glis1 T C 4: 107,424,842 (GRCm39) V151A probably benign Het
Gm12695 A G 4: 96,650,217 (GRCm39) S210P probably damaging Het
Gpat4 TAGAAGA TAGA 8: 23,672,865 (GRCm39) probably benign Het
H2-M10.4 G A 17: 36,772,688 (GRCm39) A98V probably benign Het
Hhat C A 1: 192,277,362 (GRCm39) G366C probably damaging Het
Hydin C A 8: 111,189,154 (GRCm39) A1186E probably damaging Het
Itgb2 T A 10: 77,385,937 (GRCm39) probably null Het
Kank1 C T 19: 25,387,398 (GRCm39) A329V possibly damaging Het
Kdm4b T A 17: 56,708,675 (GRCm39) S1070T probably benign Het
Kyat1 A G 2: 30,078,277 (GRCm39) Y101H probably damaging Het
Map4k5 T C 12: 69,858,140 (GRCm39) K679R probably benign Het
Mill1 A T 7: 17,989,853 (GRCm39) D45V probably damaging Het
Myo3a T A 2: 22,412,233 (GRCm39) Y743N probably damaging Het
Nox4 C G 7: 86,946,716 (GRCm39) I137M probably benign Het
Odf4 A G 11: 68,813,665 (GRCm39) probably null Het
Ostf1 A T 19: 18,558,652 (GRCm39) D210E probably damaging Het
Paxip1 A T 5: 27,966,675 (GRCm39) probably null Het
Pitrm1 A G 13: 6,606,578 (GRCm39) T211A probably benign Het
Pla2g4f A G 2: 120,135,496 (GRCm39) S393P probably damaging Het
Plppr3 T C 10: 79,703,359 (GRCm39) T42A probably damaging Het
Plxna4 C A 6: 32,142,779 (GRCm39) G1559W probably damaging Het
Ppp1r13l T C 7: 19,109,308 (GRCm39) probably null Het
Prex1 C T 2: 166,480,252 (GRCm39) V163M probably damaging Het
Prl6a1 A G 13: 27,500,307 (GRCm39) T93A probably benign Het
Psg16 T C 7: 16,824,459 (GRCm39) V81A probably benign Het
Rbm33 A T 5: 28,613,280 (GRCm39) probably benign Het
Rest C T 5: 77,423,090 (GRCm39) P298L possibly damaging Het
Rhobtb3 G A 13: 76,027,051 (GRCm39) R441* probably null Het
Rims4 T A 2: 163,706,914 (GRCm39) K155* probably null Het
Rps6kb1 C T 11: 86,410,713 (GRCm39) probably null Het
Ryr2 T C 13: 11,707,532 (GRCm39) D2835G probably damaging Het
Sell A T 1: 163,893,829 (GRCm39) I175F probably damaging Het
Serpinb6d A G 13: 33,855,211 (GRCm39) D295G probably damaging Het
Sphk1 A G 11: 116,426,106 (GRCm39) D96G probably damaging Het
Spns3 A T 11: 72,428,096 (GRCm39) V228D probably damaging Het
Sspo A G 6: 48,469,828 (GRCm39) S4500G probably damaging Het
Syt9 T A 7: 107,035,678 (GRCm39) C232S possibly damaging Het
Terf1 A G 1: 15,889,185 (GRCm39) I176V possibly damaging Het
Tln2 C T 9: 67,209,854 (GRCm39) A428T probably damaging Het
Tmprss7 T C 16: 45,499,711 (GRCm39) N321S probably benign Het
Tomm40 A G 7: 19,435,761 (GRCm39) I323T probably benign Het
Try5 T A 6: 41,288,233 (GRCm39) Q240L possibly damaging Het
Vmn1r213 A T 13: 23,195,800 (GRCm39) I128L probably benign Het
Vmn2r80 T C 10: 79,030,162 (GRCm39) F663L possibly damaging Het
Znfx1 T A 2: 166,880,950 (GRCm39) Y278F probably damaging Het
Zpbp2 A G 11: 98,442,117 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- AGACTCAGTCTAGACTTGGCC -3'
(R):5'- GCCTGATGTGAGTTAGATTCCAAG -3'

Sequencing Primer
(F):5'- TTAAGTGAGTTCCAGGCCCAG -3'
(R):5'- TGTGAGTTAGATTCCAAGAACAGAC -3'
Posted On 2015-10-21