Incidental Mutation 'R5020:Acadsb'
ID 389143
Institutional Source Beutler Lab
Gene Symbol Acadsb
Ensembl Gene ENSMUSG00000030861
Gene Name acyl-Coenzyme A dehydrogenase, short/branched chain
Synonyms 1300003O09Rik
MMRRC Submission 042611-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5020 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 131012330-131047940 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 131042929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015829] [ENSMUST00000117518] [ENSMUST00000124096]
AlphaFold Q9DBL1
Predicted Effect probably null
Transcript: ENSMUST00000015829
SMART Domains Protein: ENSMUSP00000015829
Gene: ENSMUSG00000030861

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 58 170 9.9e-30 PFAM
Pfam:Acyl-CoA_dh_M 173 268 6.9e-29 PFAM
Pfam:Acyl-CoA_dh_1 280 428 6.5e-51 PFAM
Pfam:Acyl-CoA_dh_2 295 418 4.4e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117518
SMART Domains Protein: ENSMUSP00000113948
Gene: ENSMUSG00000030861

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 58 170 2.9e-29 PFAM
Pfam:Acyl-CoA_dh_M 173 268 1.2e-28 PFAM
Pfam:Acyl-CoA_dh_1 280 414 1.4e-41 PFAM
Pfam:Acyl-CoA_dh_2 295 415 2.6e-24 PFAM
transmembrane domain 417 439 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208795
Meta Mutation Damage Score 0.9596 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A G 3: 32,774,656 (GRCm39) I340V possibly damaging Het
Alppl2 C T 1: 87,017,431 (GRCm39) V19I probably benign Het
Ankrd34c T C 9: 89,611,759 (GRCm39) K194R probably benign Het
Anpep T A 7: 79,483,475 (GRCm39) M672L probably benign Het
Arhgap31 T C 16: 38,423,438 (GRCm39) D876G probably damaging Het
Arid2 T A 15: 96,269,869 (GRCm39) N1327K probably damaging Het
Atp5f1d C A 10: 79,981,263 (GRCm39) P101Q probably benign Het
Bcl7b G A 5: 135,200,017 (GRCm39) probably null Het
Brca2 A T 5: 150,483,901 (GRCm39) S2907C probably damaging Het
Ccser2 T C 14: 36,662,134 (GRCm39) E350G probably benign Het
Cdh23 G T 10: 60,143,811 (GRCm39) D2929E probably damaging Het
Clec2i T A 6: 128,870,621 (GRCm39) V78E probably benign Het
Cpxm1 A T 2: 130,237,897 (GRCm39) probably null Het
Crybg3 C T 16: 59,375,159 (GRCm39) V2032I possibly damaging Het
Eif5b A T 1: 38,058,150 (GRCm39) K151* probably null Het
Gemin7 T A 7: 19,299,348 (GRCm39) E82D possibly damaging Het
Gm14496 A G 2: 181,633,152 (GRCm39) E45G possibly damaging Het
Gm21915 T C 9: 40,581,966 (GRCm39) S20P probably damaging Het
Gm8126 A C 14: 43,119,026 (GRCm39) E165A probably damaging Het
Grin2b T C 6: 135,710,405 (GRCm39) D1047G probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Ikbke T A 1: 131,201,397 (GRCm39) Y150F probably damaging Het
Inhca T C 9: 103,159,701 (GRCm39) D70G probably benign Het
Itih5 T A 2: 10,245,315 (GRCm39) probably null Het
Lrig2 T C 3: 104,365,217 (GRCm39) Q645R possibly damaging Het
Map4 A G 9: 109,897,868 (GRCm39) M712V probably benign Het
Mecom A G 3: 30,015,255 (GRCm39) S823P probably damaging Het
Mettl25 A G 10: 105,662,068 (GRCm39) Y301H possibly damaging Het
Mga A T 2: 119,781,654 (GRCm39) K2136* probably null Het
Mmp24 A G 2: 155,652,204 (GRCm39) E304G probably benign Het
Mmp3 T A 9: 7,445,984 (GRCm39) D29E probably benign Het
Nbas T A 12: 13,424,713 (GRCm39) I984N probably damaging Het
Nedd9 A G 13: 41,469,270 (GRCm39) Y628H probably damaging Het
Nlrp2 C T 7: 5,331,076 (GRCm39) C440Y probably damaging Het
Or4g16 T C 2: 111,136,637 (GRCm39) V29A probably benign Het
Or6p1 T G 1: 174,258,237 (GRCm39) L81R probably damaging Het
P4ha2 T C 11: 54,022,016 (GRCm39) V513A probably damaging Het
Pcsk4 T C 10: 80,161,869 (GRCm39) N124S probably benign Het
Phf12 T C 11: 77,914,622 (GRCm39) F139S probably damaging Het
Phlpp2 T A 8: 110,666,714 (GRCm39) L1081H probably damaging Het
Phospho2 T A 2: 69,626,323 (GRCm39) F160I probably damaging Het
Plch2 T G 4: 155,091,540 (GRCm39) D115A probably damaging Het
Plekho1 A G 3: 95,896,851 (GRCm39) F215S probably damaging Het
Psma4 C A 9: 54,860,056 (GRCm39) A47E probably damaging Het
Rasa4 A C 5: 136,130,153 (GRCm39) Q303P probably damaging Het
Rbmxl2 C T 7: 106,809,414 (GRCm39) P233L probably damaging Het
Reln A T 5: 22,239,636 (GRCm39) L877H probably damaging Het
Rtel1 A G 2: 180,964,307 (GRCm39) probably null Het
Septin12 T C 16: 4,811,620 (GRCm39) D116G probably damaging Het
Son T A 16: 91,453,263 (GRCm39) V670E probably damaging Het
Spag9 T A 11: 93,988,612 (GRCm39) I544N probably benign Het
Spsb3 T G 17: 25,106,036 (GRCm39) probably benign Het
Tcstv2c T C 13: 120,616,652 (GRCm39) F164L possibly damaging Het
Tgfbr3 T C 5: 107,362,836 (GRCm39) T59A probably damaging Het
Tsc1 T A 2: 28,566,531 (GRCm39) I649K probably damaging Het
Txndc9 T C 1: 38,034,793 (GRCm39) D37G probably benign Het
Uba7 C T 9: 107,856,113 (GRCm39) A496V probably benign Het
Usf3 T A 16: 44,035,889 (GRCm39) I123N probably damaging Het
Vmn1r184 T A 7: 25,966,955 (GRCm39) S234T possibly damaging Het
Vsig10l C A 7: 43,114,741 (GRCm39) S314* probably null Het
Wdfy4 A G 14: 32,801,892 (GRCm39) F1922S probably damaging Het
Zfp219 C T 14: 52,247,112 (GRCm39) R5H probably damaging Het
Zfp946 G T 17: 22,674,584 (GRCm39) C446F probably benign Het
Other mutations in Acadsb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00581:Acadsb APN 7 131,039,225 (GRCm39) intron probably benign
IGL02002:Acadsb APN 7 131,030,258 (GRCm39) missense probably damaging 1.00
IGL02147:Acadsb APN 7 131,027,610 (GRCm39) splice site probably benign
IGL02614:Acadsb APN 7 131,026,357 (GRCm39) missense probably benign 0.00
IGL03038:Acadsb APN 7 131,030,185 (GRCm39) missense probably damaging 1.00
IGL03083:Acadsb APN 7 131,042,922 (GRCm39) intron probably benign
R0491:Acadsb UTSW 7 131,031,836 (GRCm39) missense probably benign 0.41
R0562:Acadsb UTSW 7 131,027,518 (GRCm39) nonsense probably null
R0989:Acadsb UTSW 7 131,030,273 (GRCm39) missense probably damaging 0.99
R1701:Acadsb UTSW 7 131,026,213 (GRCm39) missense probably benign 0.00
R1827:Acadsb UTSW 7 131,043,004 (GRCm39) missense probably damaging 1.00
R1860:Acadsb UTSW 7 131,045,958 (GRCm39) splice site probably null
R2256:Acadsb UTSW 7 131,045,382 (GRCm39) missense probably benign 0.23
R3798:Acadsb UTSW 7 131,033,694 (GRCm39) missense probably damaging 1.00
R4519:Acadsb UTSW 7 131,031,733 (GRCm39) missense probably damaging 0.99
R5048:Acadsb UTSW 7 131,039,198 (GRCm39) missense probably damaging 1.00
R5243:Acadsb UTSW 7 131,045,972 (GRCm39) missense probably damaging 1.00
R5519:Acadsb UTSW 7 131,031,694 (GRCm39) missense probably damaging 1.00
R5788:Acadsb UTSW 7 131,045,328 (GRCm39) missense probably benign 0.23
R5855:Acadsb UTSW 7 131,026,328 (GRCm39) missense probably damaging 1.00
R6399:Acadsb UTSW 7 131,031,784 (GRCm39) missense probably damaging 1.00
R6896:Acadsb UTSW 7 131,045,375 (GRCm39) missense probably benign 0.23
R6970:Acadsb UTSW 7 131,036,044 (GRCm39) missense possibly damaging 0.85
R7031:Acadsb UTSW 7 131,045,366 (GRCm39) missense probably benign 0.23
R7126:Acadsb UTSW 7 131,039,177 (GRCm39) missense probably benign 0.01
R7138:Acadsb UTSW 7 131,042,968 (GRCm39) missense probably damaging 1.00
R7571:Acadsb UTSW 7 131,045,283 (GRCm39) missense probably damaging 1.00
R7697:Acadsb UTSW 7 131,031,698 (GRCm39) missense probably damaging 1.00
R8271:Acadsb UTSW 7 131,045,423 (GRCm39) missense unknown
R9089:Acadsb UTSW 7 131,027,504 (GRCm39) missense probably damaging 1.00
R9177:Acadsb UTSW 7 131,033,763 (GRCm39) missense probably damaging 1.00
R9268:Acadsb UTSW 7 131,033,763 (GRCm39) missense probably damaging 1.00
R9763:Acadsb UTSW 7 131,045,327 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- AAAACCTAACCTTTTACGGTGC -3'
(R):5'- GTAACACATCTTCCCACGGCAG -3'

Sequencing Primer
(F):5'- AACCTTTTACGGTGCTATTTAAAATC -3'
(R):5'- TGCCCTTCTACTGCAGGAAGTG -3'
Posted On 2016-06-06