Incidental Mutation 'R5243:Acadsb'
ID 400990
Institutional Source Beutler Lab
Gene Symbol Acadsb
Ensembl Gene ENSMUSG00000030861
Gene Name acyl-Coenzyme A dehydrogenase, short/branched chain
Synonyms 1300003O09Rik
MMRRC Submission 042814-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5243 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 131012330-131047940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131045972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 412 (I412K)
Ref Sequence ENSEMBL: ENSMUSP00000015829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015829] [ENSMUST00000117518] [ENSMUST00000124096]
AlphaFold Q9DBL1
Predicted Effect probably damaging
Transcript: ENSMUST00000015829
AA Change: I412K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000015829
Gene: ENSMUSG00000030861
AA Change: I412K

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 benign
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: ENSMUST00000156261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208795
Meta Mutation Damage Score 0.9504 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 95% (62/65)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,956,543 (GRCm39) probably null Het
Aatk A G 11: 119,907,594 (GRCm39) L78P probably damaging Het
Acer3 T C 7: 97,867,277 (GRCm39) R246G possibly damaging Het
Atp1a3 T A 7: 24,693,994 (GRCm39) I387F probably damaging Het
Atp6v1b2 A T 8: 69,556,391 (GRCm39) M300L probably benign Het
Aurkb T A 11: 68,936,752 (GRCm39) probably benign Het
Card10 C A 15: 78,664,872 (GRCm39) G694V possibly damaging Het
Ccdc171 A G 4: 83,522,344 (GRCm39) N336S probably damaging Het
Copg2 T C 6: 30,750,626 (GRCm39) T720A probably benign Het
Coro2a A T 4: 46,545,620 (GRCm39) W272R probably damaging Het
Cpne6 T A 14: 55,750,204 (GRCm39) C112S probably damaging Het
Ddx21 A G 10: 62,437,992 (GRCm39) M1T probably null Het
Dohh A G 10: 81,223,203 (GRCm39) R161G probably benign Het
Dsc1 A C 18: 20,232,216 (GRCm39) V264G probably damaging Het
E4f1 A T 17: 24,666,292 (GRCm39) C198S probably damaging Het
Evpl T A 11: 116,113,795 (GRCm39) E1298D probably damaging Het
Grid2ip A T 5: 143,363,260 (GRCm39) I246F probably damaging Het
H2-M1 A G 17: 36,982,193 (GRCm39) F136S possibly damaging Het
Hck T C 2: 152,986,412 (GRCm39) V387A probably damaging Het
Hdac1 G A 4: 129,410,646 (GRCm39) probably benign Het
Hydin A C 8: 111,232,380 (GRCm39) Q1633P possibly damaging Het
Igkv12-41 A G 6: 69,835,686 (GRCm39) I22T probably damaging Het
Ints3 CA CAA 3: 90,308,451 (GRCm39) probably null Het
Itpr2 C G 6: 146,089,044 (GRCm39) W2188C probably damaging Het
Kcnt1 A G 2: 25,798,086 (GRCm39) E899G probably damaging Het
Lgals8 C A 13: 12,469,645 (GRCm39) V12L probably benign Het
Lgr6 T C 1: 135,037,010 (GRCm39) probably benign Het
Lrrc8b T G 5: 105,628,812 (GRCm39) I386S probably damaging Het
Mks1 T C 11: 87,747,504 (GRCm39) probably benign Het
Mon1b A G 8: 114,364,553 (GRCm39) D110G possibly damaging Het
Mpdz G T 4: 81,225,116 (GRCm39) A1437E probably damaging Het
Nbeal1 T A 1: 60,309,487 (GRCm39) N1753K probably damaging Het
Nceh1 T C 3: 27,295,837 (GRCm39) V366A probably damaging Het
Ncor1 A T 11: 62,229,788 (GRCm39) D893E probably damaging Het
Npc1 T A 18: 12,331,688 (GRCm39) probably benign Het
Or1j15 T C 2: 36,458,655 (GRCm39) L15P probably damaging Het
Or9i1b A G 19: 13,897,025 (GRCm39) I214V probably damaging Het
Podxl2 T C 6: 88,826,356 (GRCm39) T317A probably benign Het
Prl8a9 T G 13: 27,746,446 (GRCm39) Q54P probably damaging Het
Prpf31 C T 7: 3,641,753 (GRCm39) R351* probably null Het
Pspc1 C T 14: 57,001,648 (GRCm39) G242D probably damaging Het
Rbmxl2 G C 7: 106,809,044 (GRCm39) G110R probably damaging Het
Rif1 T A 2: 52,001,836 (GRCm39) H1763Q possibly damaging Het
Rpusd3 T C 6: 113,395,025 (GRCm39) T85A probably benign Het
Rttn A G 18: 89,126,187 (GRCm39) I1853M possibly damaging Het
Sacs T A 14: 61,443,406 (GRCm39) C1817* probably null Het
Scrib A T 15: 75,937,101 (GRCm39) V335E probably benign Het
Sdk2 A G 11: 113,715,912 (GRCm39) L1549P possibly damaging Het
Slc25a11 C T 11: 70,536,924 (GRCm39) G44S probably damaging Het
Slc6a3 A G 13: 73,719,570 (GRCm39) Y533C possibly damaging Het
Slc7a5 A G 8: 122,623,274 (GRCm39) V191A probably damaging Het
Son A G 16: 91,451,621 (GRCm39) K123E probably damaging Het
Tcstv3 T A 13: 120,779,125 (GRCm39) M8K probably benign Het
Tie1 A G 4: 118,339,548 (GRCm39) V411A probably damaging Het
Upk3bl C A 5: 136,088,977 (GRCm39) D1E possibly damaging Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Vmn2r75 T C 7: 85,813,447 (GRCm39) N452D probably damaging Het
Wnk2 T A 13: 49,226,054 (GRCm39) N1043I possibly damaging Het
Zfp407 A T 18: 84,579,216 (GRCm39) H632Q probably damaging Het
Zfp423 T C 8: 88,500,275 (GRCm39) K1174R 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
R5020:Acadsb UTSW 7 131,042,929 (GRCm39) critical splice acceptor site probably null
R5048:Acadsb UTSW 7 131,039,198 (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'- CCTCGTCTGTTCAAAGCTGG -3'
(R):5'- AGGAACAAAATCCAGGCCTG -3'

Sequencing Primer
(F):5'- TTAGTGGGCTGCAGATCAAATG -3'
(R):5'- ATCCAGGCCTGAGACCAG -3'
Posted On 2016-07-06