Incidental Mutation 'R1581:Scd2'
ID 171443
Institutional Source Beutler Lab
Gene Symbol Scd2
Ensembl Gene ENSMUSG00000025203
Gene Name stearoyl-Coenzyme A desaturase 2
Synonyms Scd-2
MMRRC Submission 039618-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1581 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 44282115-44295303 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44286538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 123 (S123G)
Ref Sequence ENSEMBL: ENSMUSP00000026221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026221]
AlphaFold P13011
Predicted Effect probably benign
Transcript: ENSMUST00000026221
AA Change: S123G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000026221
Gene: ENSMUSG00000025203
AA Change: S123G

DomainStartEndE-ValueType
transmembrane domain 70 92 N/A INTRINSIC
Pfam:FA_desaturase 96 315 4.9e-17 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display neonatal lethality with variable penetrance depending on stain background, impaired skin barrier function, abnormal epidermal morphology, and abnormal lipid homeostasis in the skin and liver. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,063,347 (GRCm39) E447G probably benign Het
Actn4 T C 7: 28,598,071 (GRCm39) T510A probably benign Het
Adgrb3 A G 1: 25,133,153 (GRCm39) M1311T possibly damaging Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bicdl1 G T 5: 115,789,326 (GRCm39) probably benign Het
Bmyc T C 2: 25,597,346 (GRCm39) S137P probably damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Casc3 C T 11: 98,713,644 (GRCm39) T292I possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cibar1 T A 4: 12,155,745 (GRCm39) probably null Het
Cnnm2 A G 19: 46,751,562 (GRCm39) T451A probably damaging Het
Eed T C 7: 89,629,676 (GRCm39) K20E possibly damaging Het
Eps15 T A 4: 109,220,383 (GRCm39) M180K probably benign Het
Esr1 T C 10: 4,947,905 (GRCm39) I486T probably damaging Het
Etnppl A G 3: 130,422,393 (GRCm39) I207V possibly damaging Het
Fancg G A 4: 43,007,039 (GRCm39) P246L probably damaging Het
Fcrl1 G A 3: 87,293,030 (GRCm39) C249Y possibly damaging Het
Foxred2 A G 15: 77,839,961 (GRCm39) F110L possibly damaging Het
Fsip2 A T 2: 82,816,626 (GRCm39) N4120Y probably damaging Het
Gm4884 C T 7: 40,693,255 (GRCm39) S408L probably benign Het
Gm9476 T C 10: 100,142,474 (GRCm39) noncoding transcript Het
Gria1 T C 11: 57,127,836 (GRCm39) probably null Het
H6pd T A 4: 150,066,971 (GRCm39) I472F possibly damaging Het
Hydin A T 8: 111,137,092 (GRCm39) M632L probably benign Het
Hyou1 C T 9: 44,300,167 (GRCm39) P819S probably damaging Het
Il6st A G 13: 112,618,075 (GRCm39) E163G probably damaging Het
Kcnk1 T C 8: 126,722,278 (GRCm39) V27A possibly damaging Het
Kdelr3 T C 15: 79,407,114 (GRCm39) probably null Het
Klk1b22 A G 7: 43,765,399 (GRCm39) N117S possibly damaging Het
Klrh1 T C 6: 129,752,796 (GRCm39) D3G probably benign Het
Lpp C A 16: 24,500,591 (GRCm39) C134* probably null Het
Lrrc37a G A 11: 103,347,843 (GRCm39) R2951* probably null Het
Luzp2 T A 7: 54,899,238 (GRCm39) D285E possibly damaging Het
Ly75 C T 2: 60,158,237 (GRCm39) R1016H probably damaging Het
Mesp2 T A 7: 79,462,289 (GRCm39) S282T possibly damaging Het
Nav3 T C 10: 109,659,289 (GRCm39) D776G probably damaging Het
Nr2e1 T C 10: 42,443,964 (GRCm39) T253A probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or1r1 A T 11: 73,875,347 (GRCm39) L29H probably damaging Het
Padi6 T C 4: 140,463,147 (GRCm39) Y146C probably damaging Het
Pank4 C T 4: 155,059,108 (GRCm39) R414W probably damaging Het
Pclo T G 5: 14,571,296 (GRCm39) I227S probably benign Het
Plppr4 A G 3: 117,121,915 (GRCm39) V221A possibly damaging Het
Pradc1 G A 6: 85,425,568 (GRCm39) R25C probably damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rnd2 A G 11: 101,362,022 (GRCm39) T192A probably benign Het
Rtbdn A G 8: 85,681,695 (GRCm39) E131G probably benign Het
Ryr2 A G 13: 11,809,449 (GRCm39) V792A probably benign Het
Sacs G T 14: 61,451,128 (GRCm39) Q4391H probably damaging Het
Septin9 A G 11: 117,181,421 (GRCm39) R74G probably damaging Het
Sipa1l2 T A 8: 126,218,356 (GRCm39) Q327L probably damaging Het
Skor1 T C 9: 63,053,505 (GRCm39) T127A probably damaging Het
Sphk2 A G 7: 45,362,920 (GRCm39) V57A probably damaging Het
Tfec A T 6: 16,844,243 (GRCm39) D101E probably damaging Het
Tmem43 T A 6: 91,455,717 (GRCm39) H109Q probably benign Het
Tmem67 C A 4: 12,047,814 (GRCm39) S839I probably damaging Het
Trpv5 T C 6: 41,630,074 (GRCm39) Y672C probably damaging Het
Ttc39d A C 17: 80,523,913 (GRCm39) S191R probably benign Het
Ttll1 C T 15: 83,380,478 (GRCm39) V296M probably damaging Het
Upp2 A C 2: 58,664,177 (GRCm39) K130T possibly damaging Het
Vmn2r5 A G 3: 64,398,640 (GRCm39) C780R probably damaging Het
Wars1 C A 12: 108,841,635 (GRCm39) E171* probably null Het
Zeb2 A T 2: 44,887,012 (GRCm39) S637T probably damaging Het
Zfp27 T A 7: 29,595,549 (GRCm39) T139S possibly damaging Het
Zfp941 A T 7: 140,392,033 (GRCm39) L442Q probably benign Het
Other mutations in Scd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00800:Scd2 APN 19 44,286,569 (GRCm39) missense probably damaging 1.00
IGL01105:Scd2 APN 19 44,286,497 (GRCm39) missense probably benign 0.38
IGL02201:Scd2 APN 19 44,289,779 (GRCm39) missense probably damaging 0.99
IGL02680:Scd2 APN 19 44,289,685 (GRCm39) missense probably benign 0.00
unkinked UTSW 19 44,288,198 (GRCm39) nonsense probably null
R0012:Scd2 UTSW 19 44,289,685 (GRCm39) missense probably benign 0.00
R0366:Scd2 UTSW 19 44,289,685 (GRCm39) missense probably benign 0.00
R0368:Scd2 UTSW 19 44,289,685 (GRCm39) missense probably benign 0.00
R0373:Scd2 UTSW 19 44,291,479 (GRCm39) missense probably damaging 1.00
R1282:Scd2 UTSW 19 44,283,620 (GRCm39) missense probably damaging 1.00
R2008:Scd2 UTSW 19 44,291,610 (GRCm39) missense probably benign 0.23
R2329:Scd2 UTSW 19 44,286,492 (GRCm39) nonsense probably null
R4755:Scd2 UTSW 19 44,289,791 (GRCm39) missense probably damaging 1.00
R4812:Scd2 UTSW 19 44,289,841 (GRCm39) missense probably damaging 1.00
R5024:Scd2 UTSW 19 44,289,710 (GRCm39) missense probably benign 0.02
R5568:Scd2 UTSW 19 44,288,142 (GRCm39) missense probably damaging 0.99
R5702:Scd2 UTSW 19 44,286,502 (GRCm39) missense possibly damaging 0.75
R6248:Scd2 UTSW 19 44,291,448 (GRCm39) missense probably damaging 1.00
R6377:Scd2 UTSW 19 44,288,198 (GRCm39) nonsense probably null
R8422:Scd2 UTSW 19 44,289,743 (GRCm39) missense probably benign 0.00
R8424:Scd2 UTSW 19 44,289,743 (GRCm39) missense probably benign 0.00
R8735:Scd2 UTSW 19 44,289,743 (GRCm39) missense probably benign 0.00
R9597:Scd2 UTSW 19 44,288,246 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCAAAGGCTAACTGAGAAGCTGAC -3'
(R):5'- AACTGCCAAGCTGTGTGACACC -3'

Sequencing Primer
(F):5'- CTAACTGAGAAGCTGACGGGTG -3'
(R):5'- ACCCCTGGGACTCTAAGATG -3'
Posted On 2014-04-13