Incidental Mutation 'IGL03083:Acadsb'
ID 417977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acadsb
Ensembl Gene ENSMUSG00000030861
Gene Name acyl-Coenzyme A dehydrogenase, short/branched chain
Synonyms 1300003O09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03083
Quality Score
Status
Chromosome 7
Chromosomal Location 131012330-131047940 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to C at 131042922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015829] [ENSMUST00000117518] [ENSMUST00000124096]
AlphaFold Q9DBL1
Predicted Effect probably benign
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 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: ENSMUST00000136612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208795
Coding Region Coverage
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,932,261 (GRCm39) probably null Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd24 G A 10: 81,474,483 (GRCm39) A72T probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Efhb A T 17: 53,706,087 (GRCm39) W817R probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fndc3b T C 3: 27,521,576 (GRCm39) D533G probably benign Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Mios T A 6: 8,215,156 (GRCm39) N117K probably damaging Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
P2ry1 A G 3: 60,911,736 (GRCm39) T292A probably benign Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Sbno2 A T 10: 79,893,368 (GRCm39) M1311K probably damaging Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Slc9a4 A G 1: 40,668,562 (GRCm39) E735G probably benign Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Sult1e1 T A 5: 87,737,983 (GRCm39) M33L probably benign Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Top1 A G 2: 160,545,498 (GRCm39) T289A probably damaging Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Vmn1r54 T C 6: 90,246,854 (GRCm39) I256T possibly damaging Het
Wdr19 T C 5: 65,388,319 (GRCm39) I668T 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
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
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
Posted On 2016-08-02