Incidental Mutation 'IGL00718:Decr1'
ID 13408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Decr1
Ensembl Gene ENSMUSG00000028223
Gene Name 2,4-dienoyl CoA reductase 1, mitochondrial
Synonyms 1200012F07Rik, Nadph, Decr
Accession Numbers
Essential gene? Possibly essential (E-score: 0.628) question?
Stock # IGL00718
Quality Score
Status
Chromosome 4
Chromosomal Location 15917240-15945377 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 15933056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 37 (D37Y)
Ref Sequence ENSEMBL: ENSMUSP00000029877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029877]
AlphaFold Q9CQ62
Predicted Effect probably benign
Transcript: ENSMUST00000029877
AA Change: D37Y

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029877
Gene: ENSMUSG00000028223
AA Change: D37Y

DomainStartEndE-ValueType
Pfam:adh_short 60 253 7.7e-34 PFAM
Pfam:KR 61 182 4.3e-9 PFAM
Pfam:adh_short_C2 66 304 2e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150464
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased sensitivity to fasting and cold stresses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C9orf72 A T 4: 35,213,015 (GRCm39) L220H probably damaging Het
Cdk12 T C 11: 98,140,502 (GRCm39) probably benign Het
Cnksr1 T C 4: 133,962,012 (GRCm39) E163G probably benign Het
Eml4 A G 17: 83,755,613 (GRCm39) I282V probably benign Het
Fanci A G 7: 79,093,922 (GRCm39) K1064R possibly damaging Het
Insrr G T 3: 87,720,981 (GRCm39) probably null Het
Kcnt1 C T 2: 25,782,419 (GRCm39) T186M probably damaging Het
Mettl14 T C 3: 123,164,988 (GRCm39) I334M probably damaging Het
Mical3 G T 6: 121,017,410 (GRCm39) H135Q probably damaging Het
Ms4a4d A T 19: 11,535,335 (GRCm39) N211I probably damaging Het
Nsd3 T C 8: 26,196,562 (GRCm39) V230A probably damaging Het
Pcdhb13 T C 18: 37,577,874 (GRCm39) Y751H possibly damaging Het
Rad54l2 T C 9: 106,590,654 (GRCm39) T491A probably damaging Het
Scara3 G A 14: 66,168,876 (GRCm39) T247I possibly damaging Het
Snx19 T A 9: 30,343,622 (GRCm39) L594Q probably damaging Het
Unc79 T C 12: 103,135,906 (GRCm39) V2251A possibly damaging Het
Usp24 T C 4: 106,266,901 (GRCm39) S1895P probably benign Het
Vps4a A G 8: 107,769,258 (GRCm39) N261S probably benign Het
Other mutations in Decr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02736:Decr1 APN 4 15,930,952 (GRCm39) missense probably benign 0.01
IGL03141:Decr1 APN 4 15,932,902 (GRCm39) missense probably damaging 1.00
I1329:Decr1 UTSW 4 15,930,976 (GRCm39) nonsense probably null
R0472:Decr1 UTSW 4 15,919,849 (GRCm39) missense probably damaging 1.00
R1295:Decr1 UTSW 4 15,919,207 (GRCm39) missense possibly damaging 0.93
R1898:Decr1 UTSW 4 15,929,801 (GRCm39) missense probably damaging 1.00
R1955:Decr1 UTSW 4 15,924,256 (GRCm39) missense probably benign 0.09
R3160:Decr1 UTSW 4 15,930,972 (GRCm39) missense probably damaging 0.99
R3162:Decr1 UTSW 4 15,930,972 (GRCm39) missense probably damaging 0.99
R3162:Decr1 UTSW 4 15,930,972 (GRCm39) missense probably damaging 0.99
R4545:Decr1 UTSW 4 15,930,979 (GRCm39) missense probably damaging 1.00
R4962:Decr1 UTSW 4 15,930,976 (GRCm39) nonsense probably null
R5188:Decr1 UTSW 4 15,924,270 (GRCm39) missense probably damaging 1.00
R5190:Decr1 UTSW 4 15,924,270 (GRCm39) missense probably damaging 1.00
R5215:Decr1 UTSW 4 15,929,795 (GRCm39) missense probably damaging 1.00
R5556:Decr1 UTSW 4 15,919,244 (GRCm39) missense probably damaging 1.00
R6164:Decr1 UTSW 4 15,924,347 (GRCm39) missense probably benign 0.32
R6253:Decr1 UTSW 4 15,931,179 (GRCm39) missense probably benign 0.00
R6313:Decr1 UTSW 4 15,924,261 (GRCm39) missense probably benign 0.00
R6830:Decr1 UTSW 4 15,924,355 (GRCm39) critical splice acceptor site probably null
R6998:Decr1 UTSW 4 15,930,960 (GRCm39) missense probably damaging 1.00
R7064:Decr1 UTSW 4 15,945,392 (GRCm39)
R8052:Decr1 UTSW 4 15,933,019 (GRCm39) missense probably benign 0.00
R8698:Decr1 UTSW 4 15,922,483 (GRCm39) critical splice donor site probably null
R8806:Decr1 UTSW 4 15,945,351 (GRCm39) start codon destroyed probably benign 0.01
R9217:Decr1 UTSW 4 15,930,969 (GRCm39) missense probably damaging 1.00
X0026:Decr1 UTSW 4 15,919,846 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06