Incidental Mutation 'R2182:Scd1'
ID 237268
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 040184-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R2182 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 44382889-44396148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 44391732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 101 (I101L)
Ref Sequence ENSEMBL: ENSMUSP00000036936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041331]
AlphaFold P13516
Predicted Effect probably benign
Transcript: ENSMUST00000041331
AA Change: I101L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036936
Gene: ENSMUSG00000037071
AA Change: I101L

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A G 9: 53,334,243 (GRCm39) H17R probably damaging Het
Abca15 G A 7: 119,939,450 (GRCm39) W281* probably null Het
Aloxe3 G A 11: 69,020,426 (GRCm39) V157M possibly damaging Het
Arhgap26 G T 18: 39,490,862 (GRCm39) probably benign Het
Atp7b T C 8: 22,504,563 (GRCm39) N698S probably damaging Het
Clec4a4 A G 6: 122,990,716 (GRCm39) probably null Het
Clgn C T 8: 84,137,039 (GRCm39) T252I possibly damaging Het
Cyp2a12 A T 7: 26,730,571 (GRCm39) N179Y probably damaging Het
D630045J12Rik C T 6: 38,151,082 (GRCm39) probably null Het
Dennd5a G T 7: 109,533,201 (GRCm39) R190S probably benign Het
Dtx4 C A 19: 12,460,471 (GRCm39) G384V probably null Het
Dxo T C 17: 35,057,868 (GRCm39) V191A probably benign Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Fntb A G 12: 76,909,309 (GRCm39) N99S probably benign Het
Gm5773 T A 3: 93,680,820 (GRCm39) I164K probably benign Het
Golm2 A G 2: 121,697,909 (GRCm39) D75G probably damaging Het
Hyal5 T C 6: 24,877,879 (GRCm39) I325T probably damaging Het
Igsf8 G A 1: 172,118,295 (GRCm39) probably null Het
Lamc2 A G 1: 153,002,612 (GRCm39) V17A possibly damaging Het
Lpxn T C 19: 12,810,122 (GRCm39) probably null Het
Macf1 A G 4: 123,386,464 (GRCm39) V1296A probably damaging Het
Mpdz A T 4: 81,266,959 (GRCm39) L318Q probably damaging Het
Mpl T A 4: 118,314,610 (GRCm39) Q13L probably benign Het
Mpnd A G 17: 56,322,964 (GRCm39) S399G probably benign Het
Mrps5 T C 2: 127,444,407 (GRCm39) L347P probably damaging Het
Naip1 T A 13: 100,550,188 (GRCm39) Q1217H probably benign Het
Nav2 G A 7: 49,247,002 (GRCm39) V2176I probably benign Het
Obi1 A G 14: 104,743,612 (GRCm39) S156P possibly damaging Het
Or13p3 T C 4: 118,567,542 (GRCm39) *313R probably null Het
Or7g33 T C 9: 19,448,638 (GRCm39) N196S probably benign Het
Or8b43 A G 9: 38,360,420 (GRCm39) N84S probably benign Het
Or8g36 A T 9: 39,422,722 (GRCm39) M98K probably damaging Het
Pbx2 C A 17: 34,814,640 (GRCm39) Y324* probably null Het
Pcsk7 T A 9: 45,839,917 (GRCm39) C702S probably benign Het
Pramel11 T A 4: 143,623,760 (GRCm39) H138L possibly damaging Het
Rictor T C 15: 6,801,685 (GRCm39) S458P probably damaging Het
Scaf4 T C 16: 90,027,028 (GRCm39) M905V probably benign Het
Scarf2 T C 16: 17,620,886 (GRCm39) C185R probably damaging Het
Slc6a2 A G 8: 93,687,876 (GRCm39) M1V probably null Het
Sost T C 11: 101,854,676 (GRCm39) Y211C probably damaging Het
Sphkap A G 1: 83,254,405 (GRCm39) S828P probably damaging Het
Tnn T C 1: 159,968,170 (GRCm39) probably null Het
Tnrc18 T C 5: 142,745,816 (GRCm39) K1319R unknown Het
Vmn2r60 A G 7: 41,844,931 (GRCm39) T765A probably benign Het
Vmn2r91 C A 17: 18,325,691 (GRCm39) T103K possibly damaging Het
Zbtb44 T C 9: 30,977,972 (GRCm39) C429R possibly damaging Het
Zc3h4 G A 7: 16,156,441 (GRCm39) G327D unknown Het
Zfp292 A G 4: 34,807,417 (GRCm39) C1876R probably damaging Het
Zfp839 C T 12: 110,834,772 (GRCm39) L676F probably damaging Het
Zg16 A G 7: 126,649,544 (GRCm39) L139P probably damaging Het
Zscan12 A G 13: 21,552,961 (GRCm39) I262V 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
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
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
Predicted Primers PCR Primer
(F):5'- TCACTCAGATCATCCTGGGG -3'
(R):5'- TCACAAGGCTCCCATTTGTG -3'

Sequencing Primer
(F):5'- GGATGGAGACACAGCCAC -3'
(R):5'- CAGCTCTGCCCATTTGAGG -3'
Posted On 2014-10-02