Incidental Mutation 'IGL02147:Acadsb'
ID281832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acadsb
Ensembl Gene ENSMUSG00000030861
Gene Nameacyl-Coenzyme A dehydrogenase, short/branched chain
Synonyms1300003O09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02147
Quality Score
Status
Chromosome7
Chromosomal Location131410601-131448944 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 131425881 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000015829] [ENSMUST00000117518] [ENSMUST00000124096]
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 probably benign
Transcript: ENSMUST00000133277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156261
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T C 19: 24,064,963 noncoding transcript Het
Ambra1 A G 2: 91,767,719 H75R probably benign Het
Arhgef28 T A 13: 97,961,314 I931F probably damaging Het
Cdk5 T C 5: 24,420,320 N165D probably benign Het
Col4a2 A T 8: 11,408,140 Y272F probably benign Het
Csde1 T A 3: 103,039,934 D67E probably damaging Het
Dhx34 T C 7: 16,204,003 H724R probably benign Het
Dhx57 T C 17: 80,260,323 D777G possibly damaging Het
Fat3 A C 9: 15,995,985 V2907G probably damaging Het
Fst T C 13: 114,454,360 Y290C probably damaging Het
Gm5065 T A 7: 5,359,733 I121N probably damaging Het
Ighg2b A T 12: 113,306,391 *336R probably null Het
Igkv4-92 C T 6: 68,755,252 S46N probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Lmtk2 A G 5: 144,156,936 M244V possibly damaging Het
Mcoln1 T C 8: 3,508,379 F211S probably benign Het
Mib2 C A 4: 155,657,687 R209L probably benign Het
Msx3 C A 7: 140,048,885 V39L possibly damaging Het
Mtnr1b A G 9: 15,863,376 F129S probably damaging Het
Nr3c2 A G 8: 76,909,067 S266G probably damaging Het
Nup160 G T 2: 90,703,941 L703F probably benign Het
Olfr1093 A G 2: 86,786,150 N140S probably benign Het
Olfr95 T A 17: 37,210,986 Y289F probably damaging Het
Pcyt1a T A 16: 32,462,098 N105K probably damaging Het
Pdhx A G 2: 103,030,341 probably benign Het
Qpct T C 17: 79,070,716 V105A probably damaging Het
Ros1 A C 10: 52,120,895 F1227C probably damaging Het
Rrp12 A T 19: 41,886,181 V342E probably damaging Het
Sart3 A G 5: 113,762,943 probably benign Het
Slc6a18 T A 13: 73,668,162 K366M probably damaging Het
Smarca4 A G 9: 21,635,703 N175D probably damaging Het
Sox14 T C 9: 99,875,545 K47R probably damaging Het
Trcg1 A T 9: 57,245,849 I592F probably benign Het
Ush2a T C 1: 188,864,703 M3880T probably benign Het
Usp20 T C 2: 31,006,401 F172S probably damaging Het
Vmn2r4 C T 3: 64,398,361 probably benign Het
Other mutations in Acadsb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00581:Acadsb APN 7 131437496 intron probably benign
IGL02002:Acadsb APN 7 131428529 missense probably damaging 1.00
IGL02614:Acadsb APN 7 131424628 missense probably benign 0.00
IGL03038:Acadsb APN 7 131428456 missense probably damaging 1.00
IGL03083:Acadsb APN 7 131441193 intron probably benign
R0491:Acadsb UTSW 7 131430107 missense probably benign 0.41
R0562:Acadsb UTSW 7 131425789 nonsense probably null
R0989:Acadsb UTSW 7 131428544 missense probably damaging 0.99
R1701:Acadsb UTSW 7 131424484 missense probably benign 0.00
R1827:Acadsb UTSW 7 131441275 missense probably damaging 1.00
R1860:Acadsb UTSW 7 131444229 splice site probably null
R2256:Acadsb UTSW 7 131443653 missense probably benign 0.23
R3798:Acadsb UTSW 7 131431965 missense probably damaging 1.00
R4519:Acadsb UTSW 7 131430004 missense probably damaging 0.99
R5020:Acadsb UTSW 7 131441200 critical splice acceptor site probably null
R5048:Acadsb UTSW 7 131437469 missense probably damaging 1.00
R5243:Acadsb UTSW 7 131444243 missense probably damaging 1.00
R5519:Acadsb UTSW 7 131429965 missense probably damaging 1.00
R5788:Acadsb UTSW 7 131443599 missense probably benign 0.23
R5855:Acadsb UTSW 7 131424599 missense probably damaging 1.00
R6399:Acadsb UTSW 7 131430055 missense probably damaging 1.00
R6896:Acadsb UTSW 7 131443646 missense probably benign 0.23
R6970:Acadsb UTSW 7 131434315 missense possibly damaging 0.85
R7031:Acadsb UTSW 7 131443637 missense probably benign 0.23
R7126:Acadsb UTSW 7 131437448 missense probably benign 0.01
R7138:Acadsb UTSW 7 131441239 missense probably damaging 1.00
R7571:Acadsb UTSW 7 131443554 missense probably damaging 1.00
R7697:Acadsb UTSW 7 131429969 missense probably damaging 1.00
Posted On2015-04-16