Incidental Mutation 'IGL03002:Acadl'
ID 407398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acadl
Ensembl Gene ENSMUSG00000026003
Gene Name acyl-Coenzyme A dehydrogenase, long-chain
Synonyms C79855, LCAD
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03002
Quality Score
Status
Chromosome 1
Chromosomal Location 66869998-66902436 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66876128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 398 (I398V)
Ref Sequence ENSEMBL: ENSMUSP00000027153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027153]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027153
AA Change: I398V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000027153
Gene: ENSMUSG00000026003
AA Change: I398V

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:Acyl-CoA_dh_N 54 165 1.3e-33 PFAM
Pfam:Acyl-CoA_dh_M 169 266 9.2e-29 PFAM
Pfam:Acyl-CoA_dh_1 278 427 5.1e-44 PFAM
Pfam:Acyl-CoA_dh_2 293 416 3.4e-11 PFAM
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 C12- and C16-acylCoA. In mice, deficiency of this gene can cause sudden death, cardiomyopathy as well as fasting and cold intolerance. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutation of this gene results in reduced litter size, sudden death between 2-14 weeks of age, reduced serum glucose levels, lipid accumulation in the liver and heart, and cardiomyopathy. Heterozygous mutant animals exhibit reduced litter size. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,011,013 (GRCm39) C635S probably benign Het
Aoc1l3 A G 6: 48,964,052 (GRCm39) H20R probably benign Het
Asic4 C A 1: 75,427,967 (GRCm39) D164E possibly damaging Het
C8g T A 2: 25,388,823 (GRCm39) *203L probably null Het
Cad T C 5: 31,212,330 (GRCm39) V11A probably benign Het
Cckar T C 5: 53,860,247 (GRCm39) N194S probably damaging Het
Cdc123 T C 2: 5,803,166 (GRCm39) probably benign Het
Chrm5 T C 2: 112,310,706 (GRCm39) T137A probably damaging Het
Cyp1a1 A G 9: 57,609,724 (GRCm39) probably benign Het
Dapk3 G T 10: 81,026,437 (GRCm39) E187* probably null Het
Dmtf1 T C 5: 9,190,474 (GRCm39) E80G probably damaging Het
Dusp19 T A 2: 80,461,279 (GRCm39) N189K probably damaging Het
Gfral A G 9: 76,104,520 (GRCm39) V164A possibly damaging Het
Hk1 A T 10: 62,107,578 (GRCm39) V799E probably damaging Het
Iars2 C T 1: 185,055,013 (GRCm39) probably null Het
Jcad T A 18: 4,675,153 (GRCm39) Y972N probably benign Het
Lrp1 A T 10: 127,425,505 (GRCm39) D708E probably damaging Het
Mbtd1 T A 11: 93,815,316 (GRCm39) H301Q probably benign Het
Med12 A G X: 100,339,461 (GRCm39) T2004A probably benign Het
Mib1 T C 18: 10,798,356 (GRCm39) I739T possibly damaging Het
Mthfsd C T 8: 121,835,018 (GRCm39) probably benign Het
Mybpc3 T G 2: 90,954,234 (GRCm39) F369C probably damaging Het
Nfatc2 C T 2: 168,376,904 (GRCm39) V329M probably damaging Het
Ngef A T 1: 87,437,114 (GRCm39) probably null Het
Nlrp1b T C 11: 71,059,685 (GRCm39) E759G probably benign Het
Or10aa3 C A 1: 173,878,191 (GRCm39) T84N probably benign Het
Prdm4 T C 10: 85,729,016 (GRCm39) E790G probably benign Het
Psmd12 A G 11: 107,376,607 (GRCm39) D81G probably benign Het
Rnf144b A G 13: 47,396,359 (GRCm39) H232R probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Slc16a4 A T 3: 107,208,102 (GRCm39) N204I probably benign Het
Socs1 T C 16: 10,602,404 (GRCm39) N111S probably damaging Het
Srpra A G 9: 35,126,017 (GRCm39) N432D probably damaging Het
Srrm2 A G 17: 24,034,708 (GRCm39) probably benign Het
Tgoln1 A G 6: 72,593,055 (GRCm39) S142P possibly damaging Het
Trbv13-1 A G 6: 41,093,169 (GRCm39) N34S probably benign Het
Vmn2r26 T C 6: 124,016,754 (GRCm39) V406A possibly damaging Het
Vsig1 G T X: 139,827,088 (GRCm39) G79V probably damaging Het
Other mutations in Acadl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Acadl APN 1 66,880,864 (GRCm39) missense probably damaging 0.97
IGL01983:Acadl APN 1 66,880,783 (GRCm39) nonsense probably null
IGL02550:Acadl APN 1 66,884,325 (GRCm39) critical splice donor site probably null
IGL02934:Acadl APN 1 66,876,134 (GRCm39) missense probably benign 0.33
B6584:Acadl UTSW 1 66,887,632 (GRCm39) splice site probably benign
PIT4377001:Acadl UTSW 1 66,877,564 (GRCm39) missense probably damaging 1.00
R0426:Acadl UTSW 1 66,880,805 (GRCm39) missense probably damaging 0.99
R0639:Acadl UTSW 1 66,896,567 (GRCm39) missense probably benign
R1264:Acadl UTSW 1 66,896,712 (GRCm39) missense probably benign 0.00
R1589:Acadl UTSW 1 66,892,382 (GRCm39) missense probably benign 0.04
R2066:Acadl UTSW 1 66,880,905 (GRCm39) splice site probably null
R3735:Acadl UTSW 1 66,892,448 (GRCm39) missense probably benign 0.41
R4646:Acadl UTSW 1 66,870,602 (GRCm39) missense probably benign 0.00
R5690:Acadl UTSW 1 66,892,445 (GRCm39) missense probably damaging 1.00
R6185:Acadl UTSW 1 66,877,522 (GRCm39) missense possibly damaging 0.72
R7686:Acadl UTSW 1 66,887,557 (GRCm39) critical splice donor site probably null
R7699:Acadl UTSW 1 66,877,522 (GRCm39) missense possibly damaging 0.72
R7700:Acadl UTSW 1 66,877,522 (GRCm39) missense possibly damaging 0.72
R7858:Acadl UTSW 1 66,877,483 (GRCm39) missense probably benign 0.11
R8052:Acadl UTSW 1 66,892,337 (GRCm39) missense probably benign 0.35
R8389:Acadl UTSW 1 66,893,906 (GRCm39) missense probably damaging 1.00
R9381:Acadl UTSW 1 66,893,805 (GRCm39) missense probably benign
R9457:Acadl UTSW 1 66,892,400 (GRCm39) missense probably benign 0.36
Posted On 2016-08-02