Incidental Mutation 'R5038:Scd1'
ID 393140
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 042628-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R5038 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 44382889-44396148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44390148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 207 (V207M)
Ref Sequence ENSEMBL: ENSMUSP00000036936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041331]
AlphaFold P13516
Predicted Effect probably damaging
Transcript: ENSMUST00000041331
AA Change: V207M

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036936
Gene: ENSMUSG00000037071
AA Change: V207M

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 0.5282 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 94% (64/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik A T 11: 11,539,375 (GRCm39) probably null Het
Abtb2 G T 2: 103,397,408 (GRCm39) G113C probably damaging Het
Acsm5 A G 7: 119,134,034 (GRCm39) T272A probably damaging Het
Adprs C T 4: 126,211,102 (GRCm39) E272K possibly damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Atp7b A C 8: 22,518,472 (GRCm39) I122S possibly damaging Het
B230219D22Rik T C 13: 55,847,288 (GRCm39) Y134H probably damaging Het
Bnc1 A G 7: 81,618,462 (GRCm39) S868P probably damaging Het
Camta1 T C 4: 151,229,926 (GRCm39) E302G probably damaging Het
Car1 A G 3: 14,835,933 (GRCm39) Y129H probably damaging Het
Cdh22 T C 2: 164,984,197 (GRCm39) T352A probably benign Het
Ckmt2 T C 13: 92,009,282 (GRCm39) E215G probably benign Het
Cyb5r4 T G 9: 86,941,130 (GRCm39) probably null Het
Dhrs13 A G 11: 77,923,256 (GRCm39) probably benign Het
Dsg1c G A 18: 20,397,901 (GRCm39) A34T probably benign Het
Epb41l1 T C 2: 156,363,330 (GRCm39) V613A probably benign Het
Fam114a1 A G 5: 65,166,388 (GRCm39) M240V probably damaging Het
Gm15455 T C 1: 33,877,257 (GRCm39) noncoding transcript Het
Herc1 T G 9: 66,383,742 (GRCm39) probably benign Het
Ifna11 T C 4: 88,738,314 (GRCm39) V40A probably benign Het
Ifna15 T C 4: 88,476,266 (GRCm39) N73D probably benign Het
Imp4 A T 1: 34,482,016 (GRCm39) L45F probably damaging Het
Jak3 G A 8: 72,138,702 (GRCm39) A967T probably damaging Het
Krtap19-2 A T 16: 88,670,916 (GRCm39) Y76* probably null Het
Map4k5 A T 12: 69,871,388 (GRCm39) N492K probably damaging Het
Mycbp2 C T 14: 103,534,375 (GRCm39) R372H probably damaging Het
Nos2 G A 11: 78,813,140 (GRCm39) S16N probably benign Het
Nr2c2 A G 6: 92,116,803 (GRCm39) T2A probably damaging Het
Nup188 T C 2: 30,199,232 (GRCm39) Y267H probably damaging Het
Nxph2 G A 2: 23,211,556 (GRCm39) probably null Het
Or5b107 T A 19: 13,142,955 (GRCm39) D192E probably benign Het
Or5b96 T A 19: 12,867,770 (GRCm39) H57L probably damaging Het
Or9i1b T A 19: 13,896,822 (GRCm39) V146E possibly damaging Het
Otof C T 5: 30,541,783 (GRCm39) E761K possibly damaging Het
Pik3r1 C T 13: 101,825,952 (GRCm39) R37Q probably damaging Het
Pkn3 T C 2: 29,975,293 (GRCm39) probably null Het
Pold3 A G 7: 99,770,590 (GRCm39) V14A probably damaging Het
Ptpn14 T C 1: 189,519,083 (GRCm39) S38P probably damaging Het
Raf1 G A 6: 115,597,196 (GRCm39) Q35* probably null Het
Rps3a1 C A 3: 86,045,338 (GRCm39) E251D probably benign Het
Shq1 A G 6: 100,607,954 (GRCm39) V319A probably benign Het
Slc4a8 T C 15: 100,693,702 (GRCm39) Y416H probably damaging Het
Slco1a5 T C 6: 142,208,363 (GRCm39) T143A probably benign Het
Slco1a5 C T 6: 142,212,090 (GRCm39) G90D probably damaging Het
Snx9 T C 17: 5,937,348 (GRCm39) V30A probably benign Het
Spdya T C 17: 71,895,561 (GRCm39) probably benign Het
Stat1 A T 1: 52,162,368 (GRCm39) N75I probably damaging Het
Sv2b A T 7: 74,807,173 (GRCm39) M159K probably damaging Het
Tdh A T 14: 63,733,575 (GRCm39) Y89* probably null Het
Tmc7 A G 7: 118,142,588 (GRCm39) F600S probably damaging Het
Trpa1 T A 1: 14,981,090 (GRCm39) H104L probably damaging Het
Ttn G A 2: 76,678,984 (GRCm39) probably benign Het
Vmn1r113 A G 7: 20,521,419 (GRCm39) I70M possibly damaging Het
Vmn1r171 A G 7: 23,332,188 (GRCm39) M138V probably benign Het
Zfc3h1 G A 10: 115,240,116 (GRCm39) V550I probably benign Het
Zfp335 G T 2: 164,752,564 (GRCm39) S60* probably null Het
Zfp7 T C 15: 76,776,010 (GRCm39) M684T probably benign Het
Zfp984 T A 4: 147,839,903 (GRCm39) H316L probably damaging Het
Zmym2 T A 14: 57,193,637 (GRCm39) Y1151N 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
R4635:Scd1 UTSW 19 44,395,024 (GRCm39) missense probably damaging 1.00
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'- TTTAGCAGGATGGCTCAGGC -3'
(R):5'- TGCTTCCAGAATGACGTGTACG -3'

Sequencing Primer
(F):5'- CTCAGGCAGAAACATTATGCCTTGG -3'
(R):5'- CTTCCAGAATGACGTGTACGAATGG -3'
Posted On 2016-06-15