Incidental Mutation 'IGL02824:Scd4'
ID 361141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scd4
Ensembl Gene ENSMUSG00000050195
Gene Name stearoyl-coenzyme A desaturase 4
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.928) question?
Stock # IGL02824
Quality Score
Status
Chromosome 19
Chromosomal Location 44333092-44346743 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44341259 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 223 (L223P)
Ref Sequence ENSEMBL: ENSMUSP00000059860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058856]
AlphaFold Q6T707
Predicted Effect probably damaging
Transcript: ENSMUST00000058856
AA Change: L223P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000059860
Gene: ENSMUSG00000050195
AA Change: L223P

DomainStartEndE-ValueType
transmembrane domain 65 87 N/A INTRINSIC
Pfam:FA_desaturase 91 311 7e-17 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T C 4: 122,702,319 probably benign Het
Aadat A T 8: 60,516,022 K93N probably benign Het
Abcb5 A G 12: 118,890,685 F832L probably benign Het
Abl1 A T 2: 31,800,819 K783N probably damaging Het
Agxt2 A G 15: 10,393,805 E423G probably null Het
Alkbh8 T C 9: 3,368,021 probably null Het
Ankrd36 T C 11: 5,574,246 I171T possibly damaging Het
Ap1b1 G T 11: 5,033,738 A664S possibly damaging Het
Cd19 T C 7: 126,410,654 D446G probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cyp4f39 T C 17: 32,468,685 probably null Het
Ehbp1l1 T C 19: 5,719,298 D659G probably benign Het
Eif3l A G 15: 79,075,823 probably null Het
F5 T C 1: 164,194,347 S1464P probably benign Het
Fut9 T C 4: 25,620,037 N259S probably damaging Het
Glb1l3 A T 9: 26,850,109 I209N probably damaging Het
Gpd2 A G 2: 57,364,327 E671G probably null Het
Heatr5b T C 17: 78,773,680 D1381G probably damaging Het
Ifi206 A T 1: 173,481,872 I186K possibly damaging Het
Izumo1 A G 7: 45,625,648 D236G probably benign Het
Klhl32 T A 4: 24,682,237 R149* probably null Het
Lrrn1 T C 6: 107,568,534 F431S possibly damaging Het
Man2b2 C T 5: 36,821,851 V282I probably benign Het
Mboat2 A G 12: 24,946,586 K164R probably benign Het
Mgarp T C 3: 51,389,087 T165A probably damaging Het
Midn T G 10: 80,153,652 I43S possibly damaging Het
Ndn A G 7: 62,348,834 I143V possibly damaging Het
Olfr1099 T C 2: 86,958,993 D155G probably benign Het
Olfr816 T C 10: 129,911,696 E194G probably damaging Het
Pcnx4 T C 12: 72,555,571 V278A probably benign Het
Prr30 A G 14: 101,198,518 F203L probably benign Het
Setdb1 T C 3: 95,339,904 probably benign Het
Smtn A G 11: 3,532,658 Y105H probably damaging Het
Spata19 A G 9: 27,397,729 I54M possibly damaging Het
Syk A T 13: 52,623,283 probably benign Het
Trim44 A G 2: 102,400,195 F164L possibly damaging Het
Zfp503 C T 14: 21,985,094 G585S possibly damaging Het
Other mutations in Scd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Scd4 APN 19 44344747 missense possibly damaging 0.54
crisco UTSW 19 44339071 missense probably benign 0.24
IGL03098:Scd4 UTSW 19 44333492 start codon destroyed possibly damaging 0.92
R0576:Scd4 UTSW 19 44341246 missense probably benign 0.00
R0655:Scd4 UTSW 19 44338968 missense possibly damaging 0.52
R1792:Scd4 UTSW 19 44337574 nonsense probably null
R1925:Scd4 UTSW 19 44341384 missense probably damaging 0.99
R1995:Scd4 UTSW 19 44334178 missense possibly damaging 0.93
R5018:Scd4 UTSW 19 44337609 missense probably benign 0.09
R5815:Scd4 UTSW 19 44337564 missense probably damaging 1.00
R6036:Scd4 UTSW 19 44344792 missense probably damaging 0.98
R6036:Scd4 UTSW 19 44344792 missense probably damaging 0.98
R6264:Scd4 UTSW 19 44338959 nonsense probably null
R6946:Scd4 UTSW 19 44333514 missense probably null 0.82
R7661:Scd4 UTSW 19 44339071 missense probably benign 0.24
R7957:Scd4 UTSW 19 44341248 missense probably benign 0.00
R8112:Scd4 UTSW 19 44337506 missense probably benign 0.00
R8226:Scd4 UTSW 19 44334133 missense probably benign 0.00
R9752:Scd4 UTSW 19 44334036 missense probably benign 0.01
Posted On 2015-12-18