Incidental Mutation 'R5943:Acad8'
ID 460426
Institutional Source Beutler Lab
Gene Symbol Acad8
Ensembl Gene ENSMUSG00000031969
Gene Name acyl-Coenzyme A dehydrogenase family, member 8
Synonyms 2310016C19Rik
MMRRC Submission 044135-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5943 (G1)
Quality Score 200
Status Not validated
Chromosome 9
Chromosomal Location 26885431-26910862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26910740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 18 (L18P)
Ref Sequence ENSEMBL: ENSMUSP00000112908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039161] [ENSMUST00000060513] [ENSMUST00000120367] [ENSMUST00000128923] [ENSMUST00000132293] [ENSMUST00000213683] [ENSMUST00000213770]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039161
SMART Domains Protein: ENSMUSP00000037614
Gene: ENSMUSG00000035443

DomainStartEndE-ValueType
Pfam:EVE 56 220 3.7e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060513
AA Change: L18P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000054370
Gene: ENSMUSG00000031969
AA Change: L18P

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 40 151 1e-28 PFAM
Pfam:Acyl-CoA_dh_M 155 207 1.8e-23 PFAM
Pfam:Acyl-CoA_dh_1 261 411 2.9e-47 PFAM
Pfam:Acyl-CoA_dh_2 276 399 1.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120367
AA Change: L18P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112908
Gene: ENSMUSG00000031969
AA Change: L18P

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 40 151 7.8e-29 PFAM
Pfam:Acyl-CoA_dh_M 155 249 3.7e-28 PFAM
Pfam:Acyl-CoA_dh_1 261 411 5.7e-45 PFAM
Pfam:Acyl-CoA_dh_2 276 400 2.9e-20 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000128923
AA Change: L18P
Predicted Effect unknown
Transcript: ENSMUST00000132293
AA Change: L18P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138102
Predicted Effect unknown
Transcript: ENSMUST00000215693
AA Change: L9P
Predicted Effect probably benign
Transcript: ENSMUST00000213683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217143
Predicted Effect probably benign
Transcript: ENSMUST00000213770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214910
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes 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. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit cold intolerance at young age with a progressive hepatic steatosis and abnormal mitochondria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C A 17: 45,828,637 (GRCm39) Q671K probably benign Het
Acaa2 A G 18: 74,925,453 (GRCm39) H72R probably damaging Het
Acap3 T C 4: 155,983,879 (GRCm39) V115A possibly damaging Het
Adamts9 T C 6: 92,880,767 (GRCm39) T503A probably benign Het
Adcy1 T C 11: 7,111,337 (GRCm39) F876S probably damaging Het
Adgrv1 T C 13: 81,534,985 (GRCm39) E5760G probably damaging Het
Ankrd26 A T 6: 118,482,707 (GRCm39) I1631K probably damaging Het
Ccdc150 A G 1: 54,339,526 (GRCm39) T457A probably benign Het
Cd163 T C 6: 124,306,561 (GRCm39) *1160R probably null Het
Cdc6 T C 11: 98,811,589 (GRCm39) S517P probably damaging Het
Cenpf A T 1: 189,392,166 (GRCm39) D555E possibly damaging Het
Cfap251 A G 5: 123,424,420 (GRCm39) T205A probably benign Het
Clcn1 T A 6: 42,269,900 (GRCm39) I241N probably damaging Het
Clrn2 A T 5: 45,621,061 (GRCm39) I152F probably benign Het
Col4a4 A G 1: 82,502,737 (GRCm39) I349T unknown Het
Coq8b T A 7: 26,933,428 (GRCm39) F96L probably damaging Het
Cp A T 3: 20,018,470 (GRCm39) N58I probably benign Het
Dcst1 A T 3: 89,263,718 (GRCm39) probably null Het
Dhrs3 A T 4: 144,646,546 (GRCm39) M199L possibly damaging Het
Dido1 A T 2: 180,303,675 (GRCm39) S1410T probably benign Het
Dnase1l2 C T 17: 24,661,721 (GRCm39) A13T probably damaging Het
Duox1 G A 2: 122,163,916 (GRCm39) R861Q probably benign Het
Eya2 A G 2: 165,566,609 (GRCm39) H220R probably damaging Het
Fas T G 19: 34,297,987 (GRCm39) probably null Het
Fezf1 T A 6: 23,246,948 (GRCm39) K295* probably null Het
Gldn T G 9: 54,245,721 (GRCm39) I424R possibly damaging Het
Gnptab T C 10: 88,269,376 (GRCm39) V693A probably benign Het
Gsdma A T 11: 98,563,852 (GRCm39) T269S probably benign Het
Hectd4 A T 5: 121,460,357 (GRCm39) T2209S probably benign Het
Hoxd3 A G 2: 74,577,173 (GRCm39) N351S probably benign Het
Itpkc T A 7: 26,912,404 (GRCm39) N581I possibly damaging Het
Kank3 G T 17: 34,037,375 (GRCm39) E226D probably damaging Het
Krtap5-1 A G 7: 141,850,788 (GRCm39) S7P unknown Het
Lrriq3 A G 3: 154,869,587 (GRCm39) Y304C probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mdn1 T C 4: 32,678,330 (GRCm39) S653P probably damaging Het
Mri1 A T 8: 84,980,948 (GRCm39) L194* probably null Het
Mtus1 T C 8: 41,537,302 (GRCm39) E138G probably benign Het
Myo3b G A 2: 70,117,285 (GRCm39) R906Q probably benign Het
Nckipsd C T 9: 108,689,435 (GRCm39) P199S possibly damaging Het
Or52n5 T A 7: 104,587,850 (GRCm39) I39N possibly damaging Het
Or9i16 C T 19: 13,865,116 (GRCm39) V153I possibly damaging Het
Pacsin1 T C 17: 27,925,045 (GRCm39) L253P probably damaging Het
Pcca T A 14: 122,896,188 (GRCm39) I268N probably damaging Het
Pcdhga8 A G 18: 37,949,565 (GRCm39) D327G probably damaging Het
Pcnx4 A G 12: 72,626,232 (GRCm39) H1146R probably damaging Het
Pnma8b T C 7: 16,680,362 (GRCm39) S449P probably benign Het
Psmb9 T C 17: 34,403,265 (GRCm39) E61G probably damaging Het
Pxylp1 A G 9: 96,721,203 (GRCm39) Y101H probably damaging Het
Radil A G 5: 142,471,213 (GRCm39) I1044T probably damaging Het
Rnf43 G A 11: 87,622,561 (GRCm39) R554H probably damaging Het
Sp5 A T 2: 70,305,659 (GRCm39) Q17L probably null Het
Spmip1 T A 6: 29,471,908 (GRCm39) L128Q possibly damaging Het
Strn C A 17: 78,977,276 (GRCm39) V211F probably damaging Het
Sult3a1 A G 10: 33,742,637 (GRCm39) D88G probably damaging Het
Trim14 T C 4: 46,522,136 (GRCm39) I180M probably benign Het
Tsnax C A 8: 125,751,278 (GRCm39) S90* probably null Het
Ttn A G 2: 76,798,780 (GRCm39) M498T probably benign Het
Vmn1r198 T A 13: 22,539,367 (GRCm39) Y195* probably null Het
Vmn2r70 T C 7: 85,215,199 (GRCm39) T112A probably benign Het
Wwc2 T C 8: 48,443,137 (GRCm39) N32S possibly damaging Het
Yme1l1 G T 2: 23,058,342 (GRCm39) R158L probably damaging Het
Zc2hc1c C A 12: 85,336,483 (GRCm39) H47N probably damaging Het
Zc3h10 C A 10: 128,381,396 (GRCm39) probably benign Het
Zfp825 T C 13: 74,629,007 (GRCm39) R170G probably benign Het
Other mutations in Acad8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Acad8 APN 9 26,901,890 (GRCm39) missense probably damaging 1.00
IGL01721:Acad8 APN 9 26,903,563 (GRCm39) splice site probably benign
R1473:Acad8 UTSW 9 26,890,337 (GRCm39) missense probably benign 0.00
R2102:Acad8 UTSW 9 26,896,861 (GRCm39) nonsense probably null
R3030:Acad8 UTSW 9 26,890,355 (GRCm39) missense probably benign 0.04
R4023:Acad8 UTSW 9 26,890,481 (GRCm39) missense probably benign 0.02
R4276:Acad8 UTSW 9 26,889,745 (GRCm39) missense probably null 0.47
R4667:Acad8 UTSW 9 26,901,923 (GRCm39) missense probably damaging 1.00
R4668:Acad8 UTSW 9 26,901,923 (GRCm39) missense probably damaging 1.00
R4669:Acad8 UTSW 9 26,901,923 (GRCm39) missense probably damaging 1.00
R4898:Acad8 UTSW 9 26,889,698 (GRCm39) missense probably damaging 1.00
R5418:Acad8 UTSW 9 26,896,853 (GRCm39) missense probably damaging 1.00
R5486:Acad8 UTSW 9 26,910,791 (GRCm39) start codon destroyed probably null
R5549:Acad8 UTSW 9 26,896,847 (GRCm39) missense probably damaging 1.00
R5887:Acad8 UTSW 9 26,890,620 (GRCm39) splice site probably null
R7150:Acad8 UTSW 9 26,889,750 (GRCm39) missense probably damaging 1.00
R7197:Acad8 UTSW 9 26,888,967 (GRCm39) splice site probably null
R7226:Acad8 UTSW 9 26,889,726 (GRCm39) nonsense probably null
R7561:Acad8 UTSW 9 26,890,538 (GRCm39) missense probably benign 0.03
R7812:Acad8 UTSW 9 26,890,476 (GRCm39) missense probably damaging 1.00
R8360:Acad8 UTSW 9 26,890,352 (GRCm39) missense possibly damaging 0.94
R8752:Acad8 UTSW 9 26,896,853 (GRCm39) missense probably damaging 1.00
R8868:Acad8 UTSW 9 26,890,544 (GRCm39) missense probably damaging 1.00
R8919:Acad8 UTSW 9 26,910,785 (GRCm39) missense probably benign 0.00
R9300:Acad8 UTSW 9 26,888,928 (GRCm39) missense probably damaging 1.00
R9396:Acad8 UTSW 9 26,887,041 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGTGAAACAGGACTGGTCG -3'
(R):5'- ACGCCAGTAGTCCTATTGGAGC -3'

Sequencing Primer
(F):5'- TCAGAGGATGAAGTGAGTCCGTC -3'
(R):5'- TAGTCCTATTGGAGCCCGCG -3'
Posted On 2017-02-28