Incidental Mutation 'IGL02251:Scd1'
ID 286374
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 # IGL02251
Quality Score
Status
Chromosome 19
Chromosomal Location 44382889-44396148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44386533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 298 (H298R)
Ref Sequence ENSEMBL: ENSMUSP00000036936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041331]
AlphaFold P13516
Predicted Effect probably damaging
Transcript: ENSMUST00000041331
AA Change: H298R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036936
Gene: ENSMUSG00000037071
AA Change: H298R

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,626,840 (GRCm39) C1406R probably damaging Het
Acp2 T A 2: 91,038,678 (GRCm39) probably null Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Arhgef11 C T 3: 87,590,854 (GRCm39) R32C probably damaging Het
Armc6 A T 8: 70,677,870 (GRCm39) L153* probably null Het
Btnl2 G T 17: 34,582,213 (GRCm39) G260* probably null Het
Ccnf A G 17: 24,445,513 (GRCm39) S551P probably benign Het
Cdh19 A G 1: 110,882,382 (GRCm39) S37P probably benign Het
Cntnap3 T A 13: 64,909,850 (GRCm39) T752S probably damaging Het
Crispld1 A G 1: 17,799,064 (GRCm39) M62V probably benign Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dner G T 1: 84,361,747 (GRCm39) Q621K probably damaging Het
Dph6 A G 2: 114,366,004 (GRCm39) probably null Het
Dpp3 T G 19: 4,968,343 (GRCm39) H243P probably benign Het
Eif3j2 T A 18: 43,610,431 (GRCm39) K127N probably damaging Het
Esrp1 G A 4: 11,361,202 (GRCm39) R315C probably damaging Het
Gm973 A C 1: 59,621,582 (GRCm39) H574P probably benign Het
Gprasp1 G A X: 134,701,288 (GRCm39) V494I probably benign Het
Hbb-bh1 T A 7: 103,492,017 (GRCm39) K66* probably null Het
Hoxb9 T A 11: 96,165,651 (GRCm39) M240K probably damaging Het
Irf2 T C 8: 47,260,788 (GRCm39) probably null Het
Lgi4 A G 7: 30,766,688 (GRCm39) probably null Het
Mylk3 C T 8: 86,081,805 (GRCm39) V328M probably benign Het
Nf2 T C 11: 4,798,873 (GRCm39) E38G probably null Het
Or4k40 A C 2: 111,250,657 (GRCm39) L213R probably damaging Het
Or51l14 A T 7: 103,100,978 (GRCm39) K145* probably null Het
Pdpk1 A G 17: 24,298,612 (GRCm39) F346L probably damaging Het
Prex1 T C 2: 166,419,806 (GRCm39) Y1120C probably damaging Het
Rab3gap1 A G 1: 127,865,237 (GRCm39) T742A probably benign Het
Scai A T 2: 38,989,429 (GRCm39) D401E probably benign Het
Shld2 T C 14: 33,990,235 (GRCm39) R224G probably benign Het
Slc45a1 A G 4: 150,723,176 (GRCm39) probably benign Het
Smim10l1 G T 6: 133,082,471 (GRCm39) R6L probably damaging Het
Spag5 T G 11: 78,210,860 (GRCm39) F921C probably damaging Het
Sun1 T C 5: 139,227,186 (GRCm39) S667P probably damaging Het
Tas2r124 A G 6: 132,732,524 (GRCm39) I278V probably benign Het
Thbs1 G A 2: 117,943,999 (GRCm39) D206N probably benign Het
Trim37 T A 11: 87,058,256 (GRCm39) probably benign Het
Vcp T C 4: 42,988,728 (GRCm39) T249A possibly damaging Het
Vmn2r103 A G 17: 20,014,231 (GRCm39) N341S possibly damaging Het
Zmat3 A G 3: 32,399,732 (GRCm39) probably benign Het
Other mutations in Scd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Scd1 APN 19 44,388,796 (GRCm39) missense possibly damaging 0.47
IGL01781:Scd1 APN 19 44,388,787 (GRCm39) missense possibly damaging 0.53
IGL02016:Scd1 APN 19 44,388,746 (GRCm39) missense probably benign 0.02
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 2015-04-16