Incidental Mutation 'R4109:Acads'
ID 317204
Institutional Source Beutler Lab
Gene Symbol Acads
Ensembl Gene ENSMUSG00000029545
Gene Name acyl-Coenzyme A dehydrogenase, short chain
Synonyms Bcd1, SCAD, Bcd-1, Hdlq8
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R4109 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 115248358-115257405 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 115248913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 302 (*302W)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031524]
AlphaFold Q07417
Predicted Effect probably null
Transcript: ENSMUST00000031524
AA Change: *413W
SMART Domains Protein: ENSMUSP00000031524
Gene: ENSMUSG00000029545
AA Change: *413W

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 probably null
Transcript: ENSMUST00000150291
AA Change: *302W
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201888
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 96.1%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,057,733 (GRCm39) D59E probably benign Het
Aldh1l1 A G 6: 90,539,626 (GRCm39) E185G probably benign Het
Arhgap20 A G 9: 51,727,985 (GRCm39) H66R possibly damaging Het
Arhgap31 A G 16: 38,422,788 (GRCm39) S1093P probably damaging Het
Atg2a A G 19: 6,308,404 (GRCm39) T1646A possibly damaging Het
Cd200r1 C G 16: 44,610,447 (GRCm39) T185S possibly damaging Het
Cnbd2 T C 2: 156,177,318 (GRCm39) V92A probably damaging Het
Col1a2 A T 6: 4,510,705 (GRCm39) R52* probably null Het
Eml5 T C 12: 98,807,807 (GRCm39) probably null Het
Ifi206 T G 1: 173,308,554 (GRCm39) T481P probably benign Het
Nfya G T 17: 48,699,912 (GRCm39) Y37* probably null Het
Nos1ap A T 1: 170,146,237 (GRCm39) M439K probably benign Het
Paxbp1 T A 16: 90,813,786 (GRCm39) T864S probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Satb1 A G 17: 52,111,378 (GRCm39) V160A probably damaging Het
Scn3a A G 2: 65,325,379 (GRCm39) I1046T probably benign Het
Setd1b TCCACCACCACCACCACCACCACCA TCCACCACCACCACCACCACCA 5: 123,290,137 (GRCm39) probably benign Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Slc1a7 T C 4: 107,825,858 (GRCm39) V39A probably benign Het
Spire1 T C 18: 67,630,287 (GRCm39) Q338R probably damaging Het
Supt16 T C 14: 52,400,188 (GRCm39) E985G probably damaging Het
Tmprss11f T C 5: 86,677,795 (GRCm39) K325E possibly damaging Het
Tpo G A 12: 30,142,585 (GRCm39) P713L probably damaging Het
Trav13-2 A C 14: 53,872,698 (GRCm39) H58P probably benign Het
Trbv13-2 A T 6: 41,098,578 (GRCm39) Y51F probably benign Het
Ttn G C 2: 76,581,215 (GRCm39) A23226G probably damaging Het
Ttn C T 2: 76,608,809 (GRCm39) V15990I probably benign Het
Zan G A 5: 137,456,881 (GRCm39) T1285I unknown Het
Other mutations in Acads
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02325:Acads APN 5 115,250,013 (GRCm39) missense probably damaging 1.00
IGL02650:Acads APN 5 115,250,874 (GRCm39) missense probably benign 0.17
Academia UTSW 5 115,249,057 (GRCm39) missense probably damaging 1.00
R1871:Acads UTSW 5 115,255,701 (GRCm39) missense probably damaging 0.99
R3110:Acads UTSW 5 115,255,757 (GRCm39) missense probably benign
R3112:Acads UTSW 5 115,255,757 (GRCm39) missense probably benign
R4595:Acads UTSW 5 115,251,123 (GRCm39) missense probably damaging 1.00
R4799:Acads UTSW 5 115,251,149 (GRCm39) missense probably benign 0.41
R6841:Acads UTSW 5 115,250,417 (GRCm39) missense probably benign 0.03
R6932:Acads UTSW 5 115,250,331 (GRCm39) missense probably damaging 1.00
R7380:Acads UTSW 5 115,249,057 (GRCm39) missense probably damaging 1.00
R7381:Acads UTSW 5 115,249,057 (GRCm39) missense probably damaging 1.00
R7436:Acads UTSW 5 115,249,057 (GRCm39) missense probably damaging 1.00
R7792:Acads UTSW 5 115,250,840 (GRCm39) missense probably damaging 1.00
R8061:Acads UTSW 5 115,255,710 (GRCm39) missense probably benign 0.08
R8071:Acads UTSW 5 115,251,226 (GRCm39) missense probably benign 0.13
R9484:Acads UTSW 5 115,250,845 (GRCm39) missense probably damaging 0.99
Z1177:Acads UTSW 5 115,249,188 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAACTGATTTCTTCTCGGTTGCAG -3'
(R):5'- GGGGCTTCTCTCTTAGTACCTG -3'

Sequencing Primer
(F):5'- TTGCAGGTCACAGCATCTG -3'
(R):5'- AGTACCTGTTTTCCCCTCTCAG -3'
Posted On 2015-05-15