Incidental Mutation 'R1827:Acadsb'
ID 206918
Institutional Source Beutler Lab
Gene Symbol Acadsb
Ensembl Gene ENSMUSG00000030861
Gene Name acyl-Coenzyme A dehydrogenase, short/branched chain
Synonyms 1300003O09Rik
MMRRC Submission 039854-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1827 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 131012330-131047940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 131043004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Threonine at position 355 (R355T)
Ref Sequence ENSEMBL: ENSMUSP00000113948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015829] [ENSMUST00000117518] [ENSMUST00000124096]
AlphaFold Q9DBL1
Predicted Effect probably damaging
Transcript: ENSMUST00000015829
AA Change: R355T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015829
Gene: ENSMUSG00000030861
AA Change: R355T

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: R355T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113948
Gene: ENSMUSG00000030861
AA Change: R355T

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
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 C T 9: 121,738,581 (GRCm39) R319C probably benign Het
Acot4 G A 12: 84,088,712 (GRCm39) A187T probably damaging Het
Adgrb2 A C 4: 129,906,350 (GRCm39) Q926P probably damaging Het
Adgrb3 T C 1: 25,571,658 (GRCm39) T420A probably damaging Het
Adra1b A T 11: 43,726,476 (GRCm39) V147E probably damaging Het
Bco1 A G 8: 117,832,498 (GRCm39) Y98C probably damaging Het
Car5a C T 8: 122,650,547 (GRCm39) V166M probably benign Het
Cdh5 T C 8: 104,839,541 (GRCm39) L4P possibly damaging Het
Clec12a A G 6: 129,330,762 (GRCm39) T115A probably damaging Het
Cmya5 G A 13: 93,210,956 (GRCm39) T3279I possibly damaging Het
Col4a4 C T 1: 82,517,709 (GRCm39) G105D unknown Het
Cyp2d34 A T 15: 82,500,295 (GRCm39) H481Q probably benign Het
Dhx15 A T 5: 52,327,422 (GRCm39) C307* probably null Het
Dnah9 A G 11: 65,740,887 (GRCm39) Y4100H probably damaging Het
Dock10 T C 1: 80,508,009 (GRCm39) N1647S probably benign Het
Duox1 T A 2: 122,177,861 (GRCm39) Y1548* probably null Het
Esyt1 T C 10: 128,352,238 (GRCm39) E763G probably benign Het
Fbh1 G T 2: 11,768,699 (GRCm39) D332E possibly damaging Het
Fndc8 G A 11: 82,790,355 (GRCm39) V275M probably damaging Het
Focad T G 4: 88,147,620 (GRCm39) Y420D probably benign Het
Gml A T 15: 74,688,280 (GRCm39) H62Q probably benign Het
Gpr158 A T 2: 21,832,129 (GRCm39) L1076F probably benign Het
Gpr161 A G 1: 165,134,136 (GRCm39) T133A possibly damaging Het
Gpr83 G T 9: 14,779,629 (GRCm39) C269F possibly damaging Het
Gsg1l A T 7: 125,509,369 (GRCm39) I256K possibly damaging Het
Hao1 T A 2: 134,372,584 (GRCm39) R141S probably benign Het
Hnf1a G A 5: 115,098,254 (GRCm39) A116V probably damaging Het
Hrh4 A T 18: 13,155,261 (GRCm39) T267S probably damaging Het
Igfals A T 17: 25,099,278 (GRCm39) N123I probably benign Het
Iglon5 T A 7: 43,128,545 (GRCm39) T91S probably benign Het
Impg2 A T 16: 56,087,583 (GRCm39) N1134I possibly damaging Het
Incenp A G 19: 9,850,093 (GRCm39) V860A possibly damaging Het
Irf5 A T 6: 29,536,672 (GRCm39) H461L possibly damaging Het
Itpr2 A G 6: 146,229,830 (GRCm39) L1255P probably damaging Het
Kank2 A G 9: 21,706,761 (GRCm39) S86P probably damaging Het
Kcnma1 C A 14: 23,380,997 (GRCm39) D903Y probably damaging Het
Kcnn3 A T 3: 89,428,301 (GRCm39) M176L possibly damaging Het
Mccc1 A T 3: 36,039,150 (GRCm39) I281N probably damaging Het
Mms19 G A 19: 41,942,116 (GRCm39) A584V probably benign Het
Mon2 A T 10: 122,882,216 (GRCm39) D184E probably damaging Het
Mrpl1 T C 5: 96,374,202 (GRCm39) V159A possibly damaging Het
Mtrex C A 13: 113,049,633 (GRCm39) probably null Het
Myo18a C T 11: 77,709,597 (GRCm39) T190I probably benign Het
Myo7a A T 7: 97,725,938 (GRCm39) M1038K probably damaging Het
Myrfl T A 10: 116,668,852 (GRCm39) I304F probably damaging Het
Neo1 G A 9: 58,824,314 (GRCm39) R705* probably null Het
Nfat5 T C 8: 108,093,966 (GRCm39) S736P probably benign Het
Nlrp4c C T 7: 6,068,765 (GRCm39) P222L probably damaging Het
Nmt1 T A 11: 102,955,664 (GRCm39) W481R probably damaging Het
Ntrk3 T A 7: 77,897,049 (GRCm39) I663L probably damaging Het
Nup210l A T 3: 90,061,864 (GRCm39) E681V probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or4c105 A T 2: 88,648,402 (GRCm39) I296F probably benign Het
Or55b3 A G 7: 102,126,720 (GRCm39) L119P probably damaging Het
Or56b1b A T 7: 108,164,282 (GRCm39) V240D probably benign Het
Pald1 ATGCTGCTGCTGCTGC ATGCTGCTGCTGC 10: 61,191,701 (GRCm39) probably benign Het
Ppm1e T C 11: 87,122,521 (GRCm39) T479A probably damaging Het
Ppp1r7 A G 1: 93,288,518 (GRCm39) E298G probably benign Het
Pramel29 G A 4: 143,936,180 (GRCm39) P27S probably damaging Het
Prkaca T C 8: 84,717,616 (GRCm39) probably null Het
Prss36 A G 7: 127,532,664 (GRCm39) V718A probably damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Rnf182 G A 13: 43,822,010 (GRCm39) W187* probably null Het
Rrp12 G C 19: 41,868,920 (GRCm39) D519E possibly damaging Het
Rufy4 T C 1: 74,173,279 (GRCm39) L415P probably damaging Het
Ryk T A 9: 102,765,706 (GRCm39) D335E probably benign Het
S100a11 A T 3: 93,433,428 (GRCm39) I91F probably benign Het
Scin T C 12: 40,118,922 (GRCm39) R625G possibly damaging Het
Simc1 T A 13: 54,672,452 (GRCm39) C267S probably benign Het
Slc28a1 T C 7: 80,787,950 (GRCm39) V279A possibly damaging Het
Slc30a8 T A 15: 52,194,953 (GRCm39) probably null Het
Slco6d1 A G 1: 98,348,941 (GRCm39) D4G probably damaging Het
Tmem127 G A 2: 127,098,094 (GRCm39) probably null Het
Trpm1 G A 7: 63,884,755 (GRCm39) R812H probably damaging Het
Tsga10 T A 1: 37,874,661 (GRCm39) I75F probably damaging Het
Tyms C T 5: 30,267,014 (GRCm39) probably null Het
Ubr4 A G 4: 139,153,008 (GRCm39) probably null Het
Unc45a A G 7: 79,981,488 (GRCm39) V438A possibly damaging Het
Usf2 T C 7: 30,654,765 (GRCm39) D110G probably damaging Het
Vit T C 17: 78,853,875 (GRCm39) probably null Het
Vmn2r104 A T 17: 20,262,497 (GRCm39) M211K probably damaging Het
Vmn2r11 T C 5: 109,199,938 (GRCm39) H505R probably benign Het
Vmn2r77 G A 7: 86,450,821 (GRCm39) A236T probably damaging Het
Xpo1 T C 11: 23,235,155 (GRCm39) M608T probably benign Het
Zfp112 T C 7: 23,824,385 (GRCm39) F116L probably damaging Het
Zfp84 A G 7: 29,476,768 (GRCm39) T487A possibly damaging Het
Zfpl1 A C 19: 6,131,901 (GRCm39) L241R 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
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
Predicted Primers PCR Primer
(F):5'- AAAACCTAACCTTTTACGGTGC -3'
(R):5'- TGCCCTTCTACTGCAGGAAG -3'

Sequencing Primer
(F):5'- TTCACTTTAGATTGCAGACTTAAGG -3'
(R):5'- CCTTCTACTGCAGGAAGTGGAAAG -3'
Posted On 2014-06-23