Incidental Mutation 'R6036:Scd4'
ID 479239
Institutional Source Beutler Lab
Gene Symbol Scd4
Ensembl Gene ENSMUSG00000050195
Gene Name stearoyl-coenzyme A desaturase 4
Synonyms
MMRRC Submission 043257-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R6036 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 44321765-44335182 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44333231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 319 (D319N)
Ref Sequence ENSEMBL: ENSMUSP00000059860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058856]
AlphaFold Q6T707
Predicted Effect probably damaging
Transcript: ENSMUST00000058856
AA Change: D319N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059860
Gene: ENSMUSG00000050195
AA Change: D319N

DomainStartEndE-ValueType
transmembrane domain 65 87 N/A INTRINSIC
Pfam:FA_desaturase 91 311 7e-17 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.6%
  • 20x: 72.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,723,684 (GRCm39) probably benign Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Alpk3 G A 7: 80,743,005 (GRCm39) V941M probably benign Het
Ano4 A G 10: 88,818,127 (GRCm39) W588R possibly damaging Het
Atp6v1a A G 16: 43,919,194 (GRCm39) Y464H probably benign Het
Barx2 A T 9: 31,824,304 (GRCm39) D28E probably damaging Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Col10a1 A G 10: 34,271,278 (GRCm39) T417A probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Eif4enif1 T C 11: 3,189,420 (GRCm39) S227P probably damaging Het
Erv3 G A 2: 131,697,925 (GRCm39) H145Y possibly damaging Het
Exoc5 T C 14: 49,251,779 (GRCm39) T591A possibly damaging Het
F5 A T 1: 164,012,565 (GRCm39) E493V probably damaging Het
Gm8444 G T 15: 81,727,794 (GRCm39) probably benign Het
Gria4 T A 9: 4,537,646 (GRCm39) I221L probably benign Het
H2bc13 A T 13: 21,900,148 (GRCm39) S56T probably damaging Het
Hc T C 2: 34,929,696 (GRCm39) T249A probably benign Het
Herc2 A G 7: 55,717,801 (GRCm39) T48A probably benign Het
Hp A G 8: 110,303,406 (GRCm39) probably null Het
Ifna15 T G 4: 88,476,310 (GRCm39) D58A possibly damaging Het
Kcnj1 A T 9: 32,308,421 (GRCm39) M262L probably benign Het
Krt87 A C 15: 101,385,412 (GRCm39) I320S possibly damaging Het
Megf10 A G 18: 57,375,799 (GRCm39) N242D probably damaging Het
Nup155 A G 15: 8,157,895 (GRCm39) T451A probably benign Het
Or2ag2b A T 7: 106,417,667 (GRCm39) I126F probably damaging Het
Or4g7 T C 2: 111,309,333 (GRCm39) L68P probably damaging Het
Or4k35 C T 2: 111,099,957 (GRCm39) G252R probably damaging Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Or8d23 A G 9: 38,842,216 (GRCm39) I250V probably damaging Het
Pdzd8 G A 19: 59,293,641 (GRCm39) P403S probably damaging Het
Piezo2 G A 18: 63,248,019 (GRCm39) Q494* probably null Het
Plag1 T C 4: 3,904,618 (GRCm39) E191G possibly damaging Het
Pou4f2 A T 8: 79,162,103 (GRCm39) S167T probably damaging Het
Senp2 A T 16: 21,847,308 (GRCm39) R279* probably null Het
Sh3rf3 G A 10: 58,649,806 (GRCm39) G137D probably benign Het
Simc1 C T 13: 54,672,434 (GRCm39) P261S probably benign Het
Slc26a1 T A 5: 108,821,436 (GRCm39) D151V probably damaging Het
Snx29 A G 16: 11,556,301 (GRCm39) probably null Het
Stard9 C T 2: 120,530,556 (GRCm39) A2271V probably benign Het
Stat6 A G 10: 127,491,313 (GRCm39) N485D possibly damaging Het
Tpcn2 T C 7: 144,822,606 (GRCm39) T280A possibly damaging Het
Ttc23 A G 7: 67,361,114 (GRCm39) I378V possibly damaging Het
Ttc29 A G 8: 79,052,205 (GRCm39) D362G probably benign Het
Ttll7 A G 3: 146,645,917 (GRCm39) I592V probably benign Het
Ugt3a1 A T 15: 9,306,172 (GRCm39) H107L probably benign Het
Vmn1r70 A G 7: 10,367,830 (GRCm39) Q87R probably damaging Het
Wdfy4 G T 14: 32,868,947 (GRCm39) S360R probably damaging Het
Zfp780b A G 7: 27,662,993 (GRCm39) Y521H probably damaging Het
Other mutations in Scd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Scd4 APN 19 44,333,186 (GRCm39) missense possibly damaging 0.54
IGL02824:Scd4 APN 19 44,329,698 (GRCm39) missense probably damaging 1.00
crisco UTSW 19 44,327,510 (GRCm39) missense probably benign 0.24
IGL03098:Scd4 UTSW 19 44,321,931 (GRCm39) start codon destroyed possibly damaging 0.92
R0576:Scd4 UTSW 19 44,329,685 (GRCm39) missense probably benign 0.00
R0655:Scd4 UTSW 19 44,327,407 (GRCm39) missense possibly damaging 0.52
R1792:Scd4 UTSW 19 44,326,013 (GRCm39) nonsense probably null
R1925:Scd4 UTSW 19 44,329,823 (GRCm39) missense probably damaging 0.99
R1995:Scd4 UTSW 19 44,322,617 (GRCm39) missense possibly damaging 0.93
R5018:Scd4 UTSW 19 44,326,048 (GRCm39) missense probably benign 0.09
R5815:Scd4 UTSW 19 44,326,003 (GRCm39) missense probably damaging 1.00
R6036:Scd4 UTSW 19 44,333,231 (GRCm39) missense probably damaging 0.98
R6264:Scd4 UTSW 19 44,327,398 (GRCm39) nonsense probably null
R6946:Scd4 UTSW 19 44,321,953 (GRCm39) missense probably null 0.82
R7661:Scd4 UTSW 19 44,327,510 (GRCm39) missense probably benign 0.24
R7957:Scd4 UTSW 19 44,329,687 (GRCm39) missense probably benign 0.00
R8112:Scd4 UTSW 19 44,325,945 (GRCm39) missense probably benign 0.00
R8226:Scd4 UTSW 19 44,322,572 (GRCm39) missense probably benign 0.00
R9752:Scd4 UTSW 19 44,322,475 (GRCm39) missense probably benign 0.01
Predicted Primers
Posted On 2017-06-26