Incidental Mutation 'IGL02598:Acadm'
ID 299972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acadm
Ensembl Gene ENSMUSG00000062908
Gene Name acyl-Coenzyme A dehydrogenase, medium chain
Synonyms MCAD
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02598
Quality Score
Status
Chromosome 3
Chromosomal Location 153627994-153650269 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 153644181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072697] [ENSMUST00000150070] [ENSMUST00000156310]
AlphaFold P45952
Predicted Effect probably benign
Transcript: ENSMUST00000072697
SMART Domains Protein: ENSMUSP00000072483
Gene: ENSMUSG00000062908

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 42 152 2e-27 PFAM
Pfam:Acyl-CoA_dh_M 157 255 2.3e-26 PFAM
Pfam:Acyl-CoA_dh_1 267 416 1.7e-48 PFAM
Pfam:Acyl-CoA_dh_2 283 405 2.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137161
Predicted Effect probably benign
Transcript: ENSMUST00000150070
SMART Domains Protein: ENSMUSP00000121714
Gene: ENSMUSG00000062908

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 36 121 5.4e-21 PFAM
Pfam:Acyl-CoA_dh_M 125 144 5.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156310
SMART Domains Protein: ENSMUSP00000122989
Gene: ENSMUSG00000062908

DomainStartEndE-ValueType
PDB:2A1T|D 1 77 2e-30 PDB
SCOP:d3mdda2 36 88 2e-9 SMART
low complexity region 101 111 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199342
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a homotetrameric mitochondrial flavoprotein and is a member of the acyl-CoA dehydrogenase family. Members of this family catalyze the first step of fatty acid beta-oxidation, forming a C2-C3 trans-double bond in a FAD-dependent reaction. As beta-oxidation cycles through its four steps, each member of the acyl-CoA dehydrogenase family works at an optimum fatty acid chain-length. This enzyme has its optimum length between C6- and C12-acylCoA. In mice, deficiency of this gene can cause neonatal mortality as well as fasting and cold intolerance. This gene has multiple, intronless pseudogenes. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display a high degree of postnatal lethality, develop an organic aciduria, fatty liver and an unexpected diffuse cardiomyopathy with multifocal myocyte degeneration and necrosis, and show severe cold intolerance with prior fasting. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,834,448 (GRCm39) M1K probably null Het
Abca13 C T 11: 9,381,898 (GRCm39) T3850I probably damaging Het
Abcc4 A T 14: 118,905,781 (GRCm39) L95* probably null Het
Acacb A G 5: 114,384,098 (GRCm39) Y2209C probably damaging Het
Arid2 G A 15: 96,269,417 (GRCm39) V1177M probably damaging Het
Atp8a1 A T 5: 67,840,099 (GRCm39) probably null Het
Catsperd A G 17: 56,954,815 (GRCm39) probably null Het
Cd28 A G 1: 60,802,498 (GRCm39) probably benign Het
Cep164 A G 9: 45,682,002 (GRCm39) Y1934H probably damaging Het
Cep350 T C 1: 155,738,713 (GRCm39) I2377V probably benign Het
Csmd3 T C 15: 47,533,086 (GRCm39) K1581E probably damaging Het
Dab2 A T 15: 6,458,847 (GRCm39) N232I probably damaging Het
Dyrk4 G A 6: 126,860,982 (GRCm39) probably benign Het
Efcab14 T A 4: 115,597,631 (GRCm39) C75* probably null Het
Elovl1 T C 4: 118,288,616 (GRCm39) probably null Het
Eps8l2 T G 7: 140,934,849 (GRCm39) probably benign Het
Grik1 A T 16: 87,744,872 (GRCm39) V460E probably damaging Het
Gtf2f2 A G 14: 76,245,182 (GRCm39) S35P probably benign Het
Ifi203 A G 1: 173,762,568 (GRCm39) probably benign Het
Ifi209 T C 1: 173,472,281 (GRCm39) V374A probably damaging Het
Kics2 G A 10: 121,575,876 (GRCm39) probably benign Het
Lars1 A G 18: 42,360,342 (GRCm39) S705P possibly damaging Het
Lcmt1 A G 7: 123,020,871 (GRCm39) probably benign Het
Limd1 T C 9: 123,345,933 (GRCm39) S571P probably benign Het
Limd1 T A 9: 123,309,236 (GRCm39) Y312N probably benign Het
Lin28b A T 10: 45,296,622 (GRCm39) D125E possibly damaging Het
Lmtk3 T C 7: 45,442,564 (GRCm39) S416P probably damaging Het
Map7d3 T C X: 55,855,146 (GRCm39) T446A probably benign Het
Masp1 T A 16: 23,278,381 (GRCm39) M523L probably benign Het
Mroh4 C A 15: 74,483,092 (GRCm39) probably null Het
Mtmr6 G A 14: 60,537,953 (GRCm39) A651T probably damaging Het
Myocd A G 11: 65,074,296 (GRCm39) S738P probably benign Het
Or10a2 A T 7: 106,673,923 (GRCm39) N296I possibly damaging Het
Or4d5 A T 9: 40,011,861 (GRCm39) F308L probably benign Het
Or52l1 A G 7: 104,830,163 (GRCm39) V134A probably damaging Het
Or5d46 A T 2: 88,170,595 (GRCm39) I229F possibly damaging Het
Or6c3b A T 10: 129,527,142 (GRCm39) I256N possibly damaging Het
Parg G T 14: 31,936,281 (GRCm39) V479L probably damaging Het
Pcdhb10 C A 18: 37,546,834 (GRCm39) H637N possibly damaging Het
Plekhg2 G A 7: 28,059,900 (GRCm39) T1118I possibly damaging Het
Podxl T C 6: 31,501,355 (GRCm39) E400G probably damaging Het
Prss54 C A 8: 96,292,337 (GRCm39) V81F probably damaging Het
Pzp A G 6: 128,464,420 (GRCm39) L1369P probably benign Het
Rfx8 A T 1: 39,735,128 (GRCm39) probably benign Het
Rgs6 C T 12: 83,138,571 (GRCm39) P302S probably benign Het
Rnf148 A C 6: 23,654,456 (GRCm39) I180S probably damaging Het
Sacm1l A G 9: 123,408,061 (GRCm39) D350G probably benign Het
Slc33a1 C T 3: 63,850,753 (GRCm39) G524S probably benign Het
Slc5a7 A G 17: 54,591,221 (GRCm39) V237A probably benign Het
Spink7 T C 18: 62,727,356 (GRCm39) D56G probably damaging Het
Syn3 A G 10: 86,303,063 (GRCm39) S31P probably damaging Het
Tesl1 A T X: 23,773,710 (GRCm39) T404S probably benign Het
Thrb C A 14: 18,008,606 (GRCm38) P110Q possibly damaging Het
Vmn2r76 G T 7: 85,877,879 (GRCm39) T506K probably benign Het
Vps45 A G 3: 95,938,354 (GRCm39) L486P probably benign Het
Zan G A 5: 137,444,473 (GRCm39) T1823M unknown Het
Zdhhc6 T A 19: 55,302,959 (GRCm39) Q14L probably benign Het
Zfp990 A T 4: 145,263,533 (GRCm39) N177I possibly damaging Het
Other mutations in Acadm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02452:Acadm APN 3 153,647,607 (GRCm39) missense probably damaging 1.00
IGL02642:Acadm APN 3 153,644,720 (GRCm39) missense probably damaging 1.00
R0092:Acadm UTSW 3 153,647,512 (GRCm39) splice site probably benign
R0270:Acadm UTSW 3 153,641,961 (GRCm39) missense possibly damaging 0.89
R1543:Acadm UTSW 3 153,635,209 (GRCm39) missense probably damaging 1.00
R1868:Acadm UTSW 3 153,635,889 (GRCm39) missense probably benign 0.03
R1955:Acadm UTSW 3 153,635,188 (GRCm39) missense probably damaging 0.97
R2281:Acadm UTSW 3 153,638,680 (GRCm39) missense possibly damaging 0.75
R3774:Acadm UTSW 3 153,638,734 (GRCm39) missense probably benign
R4768:Acadm UTSW 3 153,628,579 (GRCm39) missense probably benign 0.00
R4994:Acadm UTSW 3 153,635,221 (GRCm39) missense probably damaging 1.00
R5194:Acadm UTSW 3 153,638,755 (GRCm39) missense possibly damaging 0.63
R5523:Acadm UTSW 3 153,644,273 (GRCm39) missense probably benign 0.13
R5927:Acadm UTSW 3 153,644,745 (GRCm39) missense probably damaging 1.00
R6109:Acadm UTSW 3 153,647,580 (GRCm39) missense probably damaging 1.00
R6223:Acadm UTSW 3 153,644,186 (GRCm39) splice site probably null
R6896:Acadm UTSW 3 153,641,957 (GRCm39) missense probably damaging 0.99
R7108:Acadm UTSW 3 153,631,437 (GRCm39) nonsense probably null
R7182:Acadm UTSW 3 153,647,518 (GRCm39) critical splice donor site probably null
R7334:Acadm UTSW 3 153,644,698 (GRCm39) nonsense probably null
R7440:Acadm UTSW 3 153,628,626 (GRCm39) missense probably damaging 1.00
R7882:Acadm UTSW 3 153,644,250 (GRCm39) nonsense probably null
R8170:Acadm UTSW 3 153,650,035 (GRCm39) missense possibly damaging 0.93
R8405:Acadm UTSW 3 153,635,165 (GRCm39) splice site probably benign
Posted On 2015-04-16