Incidental Mutation 'IGL01781:Scd1'
ID 153931
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scd1
Ensembl Gene ENSMUSG00000037071
Gene Name stearoyl-Coenzyme A desaturase 1
Synonyms SCD, stearoyl-CoA desaturase, Scd-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # IGL01781
Quality Score
Status
Chromosome 19
Chromosomal Location 44382889-44396148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44388787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 221 (M221K)
Ref Sequence ENSEMBL: ENSMUSP00000036936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041331]
AlphaFold P13516
Predicted Effect possibly damaging
Transcript: ENSMUST00000041331
AA Change: M221K

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036936
Gene: ENSMUSG00000037071
AA Change: M221K

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
transmembrane domain 67 89 N/A INTRINSIC
Pfam:FA_desaturase 93 313 2.4e-17 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 an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted and spontaneous mutations exhibit alopecia, scaly skin, sebaceous gland hypoplasia, impaired ocular lubrication and synthesis and storage of triglycerides, higher lipid oxidation, reduced growth, and lower fertility in females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,349,280 (GRCm39) I3618N probably damaging Het
Acss1 A G 2: 150,479,792 (GRCm39) L305P probably damaging Het
Alox12e A T 11: 70,212,282 (GRCm39) L132Q probably damaging Het
Atp6v0a4 T C 6: 38,051,095 (GRCm39) N428D possibly damaging Het
Ccdc80 C T 16: 44,946,493 (GRCm39) H811Y probably damaging Het
Cgn T C 3: 94,680,515 (GRCm39) M596V probably benign Het
Cpn1 T A 19: 43,954,657 (GRCm39) E323V possibly damaging Het
Cul9 A G 17: 46,850,230 (GRCm39) S447P probably benign Het
Cyp2f2 A T 7: 26,829,846 (GRCm39) Y182F probably benign Het
Dnajc13 T C 9: 104,039,558 (GRCm39) M2104V possibly damaging Het
Eri3 T C 4: 117,421,874 (GRCm39) F51L probably benign Het
Fgd5 A G 6: 91,965,698 (GRCm39) S486G possibly damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Ifna4 T C 4: 88,760,389 (GRCm39) S98P probably damaging Het
Impg2 A G 16: 56,072,588 (GRCm39) K340R probably benign Het
Man2b2 T C 5: 36,971,089 (GRCm39) N759S possibly damaging Het
Mfsd1 A G 3: 67,495,244 (GRCm39) probably benign Het
Or2d36 T A 7: 106,746,903 (GRCm39) C127S probably damaging Het
Pdcd6ip G T 9: 113,520,566 (GRCm39) N139K probably damaging Het
Peak1 A T 9: 56,167,349 (GRCm39) I193N possibly damaging Het
Pip4p2 T C 4: 14,893,566 (GRCm39) L143S probably damaging Het
Pramel28 C A 4: 143,692,299 (GRCm39) C234F probably benign Het
Psg27 T A 7: 18,298,989 (GRCm39) T111S probably damaging Het
Ptprs G A 17: 56,742,676 (GRCm39) L489F probably damaging Het
Rpgrip1l A G 8: 91,996,846 (GRCm39) V76A probably benign Het
Slc38a7 A G 8: 96,570,386 (GRCm39) probably null Het
Spon2 T C 5: 33,372,904 (GRCm39) D266G probably benign Het
Spry4 C T 18: 38,723,478 (GRCm39) G95D probably damaging Het
Supt20 A G 3: 54,602,626 (GRCm39) M1V probably null Het
Trappc11 A C 8: 47,967,163 (GRCm39) F404V possibly damaging Het
Vmn1r178 C A 7: 23,593,434 (GRCm39) Q161K probably damaging Het
Vmn2r25 T C 6: 123,816,324 (GRCm39) E419G possibly damaging Het
Vstm5 A G 9: 15,168,968 (GRCm39) H146R probably damaging Het
Other mutations in Scd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Scd1 APN 19 44,388,796 (GRCm39) missense possibly damaging 0.47
IGL02016:Scd1 APN 19 44,388,746 (GRCm39) missense probably benign 0.02
IGL02251:Scd1 APN 19 44,386,533 (GRCm39) missense probably damaging 1.00
copycat UTSW 19 44,394,927 (GRCm39) missense probably benign
flake UTSW 19 44,388,769 (GRCm39) missense probably damaging 1.00
R2182:Scd1 UTSW 19 44,391,732 (GRCm39) missense probably benign
R4635:Scd1 UTSW 19 44,395,024 (GRCm39) missense probably damaging 1.00
R5038:Scd1 UTSW 19 44,390,148 (GRCm39) missense probably damaging 0.97
R5511:Scd1 UTSW 19 44,395,198 (GRCm39) missense probably benign 0.31
R5965:Scd1 UTSW 19 44,388,579 (GRCm39) critical splice donor site probably null
R6746:Scd1 UTSW 19 44,394,927 (GRCm39) missense probably benign
R7133:Scd1 UTSW 19 44,395,034 (GRCm39) missense probably damaging 1.00
R7593:Scd1 UTSW 19 44,388,739 (GRCm39) missense probably benign 0.00
Z1088:Scd1 UTSW 19 44,386,362 (GRCm39) missense probably benign 0.28
Z1176:Scd1 UTSW 19 44,391,657 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04