Incidental Mutation 'IGL03038:Acadsb'
ID 408796
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 # IGL03038
Quality Score
Status
Chromosome 7
Chromosomal Location 131012330-131047940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131030185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 111 (Y111H)
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: Y111H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015829
Gene: ENSMUSG00000030861
AA Change: Y111H

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 damaging
Transcript: ENSMUST00000117518
AA Change: Y111H

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113948
Gene: ENSMUSG00000030861
AA Change: Y111H

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 unknown
Transcript: ENSMUST00000133277
AA Change: Y101H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136612
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef6 C T X: 56,290,966 (GRCm39) V262I probably benign Het
Arsk C A 13: 76,213,632 (GRCm39) probably benign Het
Ces1b T C 8: 93,793,680 (GRCm39) E303G probably benign Het
Chst9 T C 18: 15,628,360 (GRCm39) Q55R probably benign Het
Cntnap3 A T 13: 64,888,839 (GRCm39) D1153E possibly damaging Het
D130043K22Rik A G 13: 25,063,602 (GRCm39) E681G probably damaging Het
Fhad1 T C 4: 141,729,805 (GRCm39) E66G probably benign Het
Flii T C 11: 60,615,658 (GRCm39) T69A probably benign Het
Foxl1 A C 8: 121,855,158 (GRCm39) E153A probably damaging Het
Gstm3 T C 3: 107,873,485 (GRCm39) D162G possibly damaging Het
Gtpbp3 G A 8: 71,941,947 (GRCm39) V96I possibly damaging Het
Insig2 G A 1: 121,247,403 (GRCm39) T56I probably damaging Het
Kif13a A G 13: 46,926,314 (GRCm39) L264P probably damaging Het
Lama3 T G 18: 12,552,307 (GRCm39) C420G probably damaging Het
Lrp2 C T 2: 69,305,808 (GRCm39) G2918S probably damaging Het
Lrrc8b T C 5: 105,629,358 (GRCm39) L568P probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Malrd1 G A 2: 16,132,778 (GRCm39) D1900N unknown Het
Mastl C A 2: 23,030,627 (GRCm39) probably benign Het
Med24 T G 11: 98,607,010 (GRCm39) T276P possibly damaging Het
Naip1 A C 13: 100,573,841 (GRCm39) Y239* probably null Het
Nhsl2 A G X: 101,122,491 (GRCm39) K765E probably damaging Het
Npy A G 6: 49,800,588 (GRCm39) N4S probably benign Het
Nsun2 A G 13: 69,767,703 (GRCm39) D188G probably damaging Het
Or6c88 A G 10: 129,406,790 (GRCm39) T89A probably benign Het
Pde1a C A 2: 79,718,290 (GRCm39) probably benign Het
Pik3cb G A 9: 98,947,650 (GRCm39) A509V probably damaging Het
Pou2f2 C T 7: 24,796,577 (GRCm39) S315N probably damaging Het
Prdm2 A C 4: 142,860,571 (GRCm39) S906R probably damaging Het
Prkaca C A 8: 84,721,580 (GRCm39) Q300K probably benign Het
Prox2 T C 12: 85,142,038 (GRCm39) D55G possibly damaging Het
Ryr3 T A 2: 112,498,465 (GRCm39) T3612S possibly damaging Het
S1pr1 T A 3: 115,506,343 (GRCm39) I84L possibly damaging Het
Slc47a1 C T 11: 61,243,918 (GRCm39) V384M probably benign Het
Slc6a20b T C 9: 123,426,394 (GRCm39) N497S possibly damaging Het
Spen C A 4: 141,265,550 (GRCm39) R3L unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Ttll6 T C 11: 96,042,786 (GRCm39) F444S probably damaging Het
Vwce T A 19: 10,624,035 (GRCm39) Y309N possibly damaging Het
Vwf T C 6: 125,581,120 (GRCm39) L586P possibly damaging Het
Wdr35 T C 12: 9,024,185 (GRCm39) 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
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
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