Incidental Mutation 'IGL02736:Decr1'
ID305646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Decr1
Ensembl Gene ENSMUSG00000028223
Gene Name2,4-dienoyl CoA reductase 1, mitochondrial
SynonymsNadph, 1200012F07Rik, Decr
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.670) question?
Stock #IGL02736
Quality Score
Status
Chromosome4
Chromosomal Location15917240-15945507 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 15930952 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 127 (T127S)
Ref Sequence ENSEMBL: ENSMUSP00000029877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029877]
Predicted Effect probably benign
Transcript: ENSMUST00000029877
AA Change: T127S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000029877
Gene: ENSMUSG00000028223
AA Change: T127S

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T C 1: 37,637,873 E76G probably damaging Het
9430007A20Rik G A 4: 144,528,637 R209K probably benign Het
A830018L16Rik G A 1: 11,972,051 A416T probably benign Het
Akap12 A G 10: 4,355,637 I816V probably benign Het
Antxrl A G 14: 34,056,618 probably benign Het
Atp1a3 G A 7: 24,980,109 T920I probably damaging Het
Cd22 C T 7: 30,878,045 probably null Het
Cntn3 T A 6: 102,203,939 N765I probably damaging Het
Crebbp G A 16: 4,154,910 P307S probably benign Het
Dapk2 T A 9: 66,268,916 M333K probably benign Het
Dnmbp A T 19: 43,849,770 probably benign Het
Erbin A G 13: 103,839,395 S664P probably damaging Het
Hectd4 G T 5: 121,342,719 C2941F possibly damaging Het
Ighv1-4 A G 12: 114,487,252 Y79H probably benign Het
Matn3 T A 12: 8,955,422 D277E possibly damaging Het
Mgarp C A 3: 51,396,445 A36S possibly damaging Het
Mycbp2 A G 14: 103,114,242 probably benign Het
Nynrin G A 14: 55,870,909 A1158T probably damaging Het
Olfr427 T G 1: 174,099,647 I63S probably damaging Het
Olfr729 G A 14: 50,148,424 A150V probably benign Het
Palm2 C A 4: 57,709,721 A222E probably damaging Het
Pkd1l2 T C 8: 117,040,666 D1295G probably benign Het
Ppig A G 2: 69,736,094 I171M probably damaging Het
Ptprs A T 17: 56,458,248 V12E possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rpgrip1l T A 8: 91,263,591 Q741L possibly damaging Het
Slco6d1 T C 1: 98,428,311 V157A possibly damaging Het
Sox6 A C 7: 115,580,640 D302E probably damaging Het
Spata3 T C 1: 86,024,435 V136A probably damaging Het
St6galnac6 G A 2: 32,614,971 R129H probably benign Het
Tmem184c A T 8: 77,597,846 D338E probably damaging Het
Tmem67 A G 4: 12,045,789 probably null Het
Ttn A T 2: 76,878,270 probably benign Het
Usp16 T C 16: 87,464,835 V113A possibly damaging Het
Utrn A G 10: 12,421,640 Y675H probably damaging Het
Zc3h4 T A 7: 16,417,383 Y117* probably null Het
Zc3h7b A T 15: 81,791,974 M694L probably benign Het
Zfp345 A T 2: 150,474,554 Y45N probably damaging Het
Other mutations in Decr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Decr1 APN 4 15933056 missense probably benign 0.23
IGL03141:Decr1 APN 4 15932902 missense probably damaging 1.00
I1329:Decr1 UTSW 4 15930976 nonsense probably null
R0472:Decr1 UTSW 4 15919849 missense probably damaging 1.00
R1295:Decr1 UTSW 4 15919207 missense possibly damaging 0.93
R1898:Decr1 UTSW 4 15929801 missense probably damaging 1.00
R1955:Decr1 UTSW 4 15924256 missense probably benign 0.09
R3160:Decr1 UTSW 4 15930972 missense probably damaging 0.99
R3162:Decr1 UTSW 4 15930972 missense probably damaging 0.99
R3162:Decr1 UTSW 4 15930972 missense probably damaging 0.99
R4545:Decr1 UTSW 4 15930979 missense probably damaging 1.00
R4962:Decr1 UTSW 4 15930976 nonsense probably null
R5188:Decr1 UTSW 4 15924270 missense probably damaging 1.00
R5190:Decr1 UTSW 4 15924270 missense probably damaging 1.00
R5215:Decr1 UTSW 4 15929795 missense probably damaging 1.00
R5556:Decr1 UTSW 4 15919244 missense probably damaging 1.00
R6164:Decr1 UTSW 4 15924347 missense probably benign 0.32
R6253:Decr1 UTSW 4 15931179 missense probably benign 0.00
R6313:Decr1 UTSW 4 15924261 missense probably benign 0.00
R6830:Decr1 UTSW 4 15924355 critical splice acceptor site probably null
R6998:Decr1 UTSW 4 15930960 missense probably damaging 1.00
R7064:Decr1 UTSW 4 15945392
R8052:Decr1 UTSW 4 15933019 missense probably benign 0.00
X0026:Decr1 UTSW 4 15919846 missense probably damaging 1.00
Posted On2015-04-16