Incidental Mutation 'R4635:Scd1'
ID 349457
Institutional Source Beutler Lab
Gene Symbol Scd1
Ensembl Gene ENSMUSG00000037071
Gene Name stearoyl-Coenzyme A desaturase 1
Synonyms SCD, stearoyl-CoA desaturase, Scd-1
MMRRC Submission 041899-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R4635 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 44382889-44396148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44395024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 67 (Y67C)
Ref Sequence ENSEMBL: ENSMUSP00000036936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041331]
AlphaFold P13516
Predicted Effect probably damaging
Transcript: ENSMUST00000041331
AA Change: Y67C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036936
Gene: ENSMUSG00000037071
AA Change: Y67C

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
Meta Mutation Damage Score 0.1409 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (39/40)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,764,927 (GRCm39) K639I probably benign Het
Amer3 C A 1: 34,626,958 (GRCm39) T399K probably damaging Het
Arfgef3 T C 10: 18,510,603 (GRCm39) Y786C probably damaging Het
Arhgef26 A G 3: 62,247,861 (GRCm39) Y315C probably damaging Het
Ccdc121 G A 5: 31,645,435 (GRCm39) R396Q probably benign Het
Chchd6 T C 6: 89,444,448 (GRCm39) E178G probably damaging Het
Chd3 TGCTGCCGCTGCCGC TGCTGCCGCTGCCGCTGCCGC 11: 69,253,013 (GRCm39) probably benign Het
Daam1 T A 12: 72,005,518 (GRCm39) probably null Het
Ddx60 A G 8: 62,490,101 (GRCm39) E1690G probably benign Het
Eme2 G T 17: 25,113,882 (GRCm39) P48T probably benign Het
Ferd3l T C 12: 33,978,835 (GRCm39) M116T probably damaging Het
Gm13141 GGTTTCTTGATGCCA G 4: 147,612,561 (GRCm39) noncoding transcript Het
Gtf2i T C 5: 134,274,028 (GRCm39) N727D probably damaging Het
Hao1 T A 2: 134,365,072 (GRCm39) N185I probably damaging Het
Kifap3 C T 1: 163,642,004 (GRCm39) T195I probably damaging Het
Mag A G 7: 30,606,348 (GRCm39) F363S probably damaging Het
Mef2a A G 7: 66,890,175 (GRCm39) I135T possibly damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Nphs1 T C 7: 30,167,432 (GRCm39) F787L probably benign Het
Nr1h2 A C 7: 44,201,961 (GRCm39) S42A probably benign Het
Odad4 C T 11: 100,442,333 (GRCm39) Q164* probably null Het
Or10ag2 T A 2: 87,249,043 (GRCm39) M217K probably benign Het
Or4a76 A C 2: 89,460,516 (GRCm39) I242S possibly damaging Het
Or51aa2 T C 7: 103,188,355 (GRCm39) I29V probably benign Het
Or5ak23 T A 2: 85,245,208 (GRCm39) N5I probably damaging Het
Rab38 T C 7: 88,099,854 (GRCm39) V123A probably damaging Het
Scn5a T C 9: 119,358,051 (GRCm39) N730S possibly damaging Het
Shc2 C T 10: 79,462,120 (GRCm39) C341Y probably benign Het
Tfdp2 T A 9: 96,179,727 (GRCm39) N113K probably damaging Het
Tmc3 A G 7: 83,234,290 (GRCm39) probably benign Het
Top6bl A G 19: 4,748,524 (GRCm39) probably benign Het
Tox A T 4: 6,990,501 (GRCm39) probably benign Het
Tspoap1 A G 11: 87,668,683 (GRCm39) K1319E probably benign Het
Vit G A 17: 78,881,641 (GRCm39) V135I probably benign Het
Vwa5b1 T G 4: 138,338,150 (GRCm39) S71R possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCACAGGGACTCAGTATTCATG -3'
(R):5'- GATCTCCAGTTCTTACACGACC -3'

Sequencing Primer
(F):5'- GGGACTCAGTATTCATGTTAAGTCCC -3'
(R):5'- TCCAGTTCTTACACGACCACCAC -3'
Posted On 2015-10-08