Incidental Mutation 'IGL02650:Acads'
ID302110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acads
Ensembl Gene ENSMUSG00000029545
Gene Nameacyl-Coenzyme A dehydrogenase, short chain
SynonymsBcd-1, Hdlq8, Bcd1, SCAD
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.281) question?
Stock #IGL02650
Quality Score
Status
Chromosome5
Chromosomal Location115110299-115119346 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 115112815 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 141 (T141N)
Ref Sequence ENSEMBL: ENSMUSP00000031524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031524]
Predicted Effect probably benign
Transcript: ENSMUST00000031524
AA Change: T141N

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031524
Gene: ENSMUSG00000029545
AA Change: T141N

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:Acyl-CoA_dh_N 35 147 1e-37 PFAM
Pfam:Acyl-CoA_dh_M 151 246 6.1e-28 PFAM
Pfam:Acyl-CoA_dh_1 258 407 3.6e-52 PFAM
Pfam:Acyl-CoA_dh_2 273 396 6e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000100847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201888
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a homotetrameric mitochondrial flavoprotein and is a member of the acyl-CoA dehydrogenase family. Members of this family catalyze the first step of fatty acid beta-oxidation, forming a C2-C3 trans-double bond in a FAD-dependent reaction. As beta-oxidation cycles through its four steps, each member of the Acyl-CoA dehydrogenase family works at an optimum fatty acid chain-length. This enzyme has its optimum at C(four)-CoA. In mice, deficiency of this gene has been linked to cold sensitivity and increased high-density lipoprotein levels. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display organic aciduria and develop hypoglycemia and fatty livers after fasting. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,741,537 T586A probably benign Het
Ankmy1 C T 1: 92,881,023 R721H probably damaging Het
Appl1 A G 14: 26,950,708 V236A possibly damaging Het
Arhgef5 C T 6: 43,272,935 Q207* probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atp6v0a2 G T 5: 124,712,362 probably benign Het
Cenpf T C 1: 189,652,473 K2537E possibly damaging Het
Cox7a1 A T 7: 30,185,137 E32V possibly damaging Het
Dis3 A T 14: 99,098,785 M95K probably benign Het
Dnah5 A T 15: 28,289,047 probably benign Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Ghsr A T 3: 27,374,855 Q343L probably benign Het
Gm3252 T A 14: 4,746,353 V215E probably damaging Het
Gm9979 A G 13: 40,705,749 noncoding transcript Het
Grik2 A T 10: 49,101,235 M867K probably benign Het
Grm7 A G 6: 111,358,958 T777A probably damaging Het
Hc T A 2: 35,000,874 Q1310L possibly damaging Het
Ifi44 A G 3: 151,745,855 F205L probably damaging Het
Igkv4-86 T C 6: 68,910,633 I40V probably benign Het
Jag1 T C 2: 137,115,585 D69G possibly damaging Het
Lrch1 T C 14: 74,813,698 D333G probably damaging Het
Mapre3 T A 5: 30,864,709 I187N probably damaging Het
Myo15b T C 11: 115,886,511 probably null Het
Nanos2 C T 7: 18,987,869 P89S probably damaging Het
Olfr1214 T A 2: 88,988,080 M41L probably benign Het
Parp16 G A 9: 65,233,816 V223I probably damaging Het
Rnf123 A G 9: 108,069,748 M231T probably benign Het
Suco C A 1: 161,848,753 probably benign Het
Synj1 G T 16: 90,976,696 T459N probably benign Het
Taf4b C T 18: 14,841,983 Q732* probably null Het
Tas2r102 A G 6: 132,762,210 N27S probably null Het
Tctex1d1 C A 4: 102,988,606 Q12K probably benign Het
Tll1 C T 8: 64,046,997 probably benign Het
Vmn1r168 A G 7: 23,541,491 I258V probably benign Het
Vmn2r71 T A 7: 85,624,327 M783K probably damaging Het
Vmn2r98 G A 17: 19,080,961 V742I probably benign Het
Other mutations in Acads
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02325:Acads APN 5 115111954 missense probably damaging 1.00
R1871:Acads UTSW 5 115117642 missense probably damaging 0.99
R3110:Acads UTSW 5 115117698 missense probably benign
R3112:Acads UTSW 5 115117698 missense probably benign
R4109:Acads UTSW 5 115110854 makesense probably null
R4595:Acads UTSW 5 115113064 missense probably damaging 1.00
R4799:Acads UTSW 5 115113090 missense probably benign 0.41
R6841:Acads UTSW 5 115112358 missense probably benign 0.03
R6932:Acads UTSW 5 115112272 missense probably damaging 1.00
R7380:Acads UTSW 5 115110998 missense probably damaging 1.00
R7381:Acads UTSW 5 115110998 missense probably damaging 1.00
R7436:Acads UTSW 5 115110998 missense probably damaging 1.00
R7792:Acads UTSW 5 115112781 missense probably damaging 1.00
R8061:Acads UTSW 5 115117651 missense probably benign 0.08
Z1177:Acads UTSW 5 115111129 missense probably benign 0.00
Posted On2015-04-16