Incidental Mutation 'IGL03002:Acadl'
ID407398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acadl
Ensembl Gene ENSMUSG00000026003
Gene Nameacyl-Coenzyme A dehydrogenase, long-chain
SynonymsLCAD, C79855
Accession Numbers

Genbank: NM_007381.3; Ensembl: ENSMUST00000027153, ENSMUST00000139208

Is this an essential gene? Possibly essential (E-score: 0.680) question?
Stock #IGL03002
Quality Score
Status
Chromosome1
Chromosomal Location66830839-66863277 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 66836969 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 398 (I398V)
Ref Sequence ENSEMBL: ENSMUSP00000027153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027153]
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: 55,773,556 C635S probably benign Het
Asic4 C A 1: 75,451,323 D164E possibly damaging Het
C8g T A 2: 25,498,811 *203L probably null Het
Cad T C 5: 31,054,986 V11A probably benign Het
Cckar T C 5: 53,702,905 N194S probably damaging Het
Cdc123 T C 2: 5,798,355 probably benign Het
Chrm5 T C 2: 112,480,361 T137A probably damaging Het
Cyp1a1 A G 9: 57,702,441 probably benign Het
Dapk3 G T 10: 81,190,603 E187* probably null Het
Dmtf1 T C 5: 9,140,474 E80G probably damaging Het
Dusp19 T A 2: 80,630,935 N189K probably damaging Het
Gfral A G 9: 76,197,238 V164A possibly damaging Het
Hk1 A T 10: 62,271,799 V799E probably damaging Het
Iars2 C T 1: 185,322,816 probably null Het
Jcad T A 18: 4,675,153 Y972N probably benign Het
Lrp1 A T 10: 127,589,636 D708E probably damaging Het
Mbtd1 T A 11: 93,924,490 H301Q probably benign Het
Med12 A G X: 101,295,855 T2004A probably benign Het
Mib1 T C 18: 10,798,356 I739T possibly damaging Het
Mthfsd C T 8: 121,108,279 probably benign Het
Mybpc3 T G 2: 91,123,889 F369C probably damaging Het
Nfatc2 C T 2: 168,534,984 V329M probably damaging Het
Ngef A T 1: 87,509,392 probably null Het
Nlrp1b T C 11: 71,168,859 E759G probably benign Het
Olfr432 C A 1: 174,050,625 T84N probably benign Het
Prdm4 T C 10: 85,893,152 E790G probably benign Het
Psmd12 A G 11: 107,485,781 D81G probably benign Het
Rnf144b A G 13: 47,242,883 H232R probably damaging Het
Sec63 C T 10: 42,810,909 T475M possibly damaging Het
Slc16a4 A T 3: 107,300,786 N204I probably benign Het
Socs1 T C 16: 10,784,540 N111S probably damaging Het
Srpr A G 9: 35,214,721 N432D probably damaging Het
Srrm2 A G 17: 23,815,734 probably benign Het
Svs1 A G 6: 48,987,118 H20R probably benign Het
Tgoln1 A G 6: 72,616,072 S142P possibly damaging Het
Trbv13-1 A G 6: 41,116,235 N34S probably benign Het
Vmn2r26 T C 6: 124,039,795 V406A possibly damaging Het
Vsig1 G T X: 140,926,339 G79V probably damaging Het
Other mutations in Acadl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Acadl APN 1 66841705 missense probably damaging 0.97
IGL01983:Acadl APN 1 66841624 nonsense probably null
IGL02550:Acadl APN 1 66845166 critical splice donor site probably null
IGL02934:Acadl APN 1 66836975 missense probably benign 0.33
B6584:Acadl UTSW 1 66848473 splice site probably benign
PIT4377001:Acadl UTSW 1 66838405 missense probably damaging 1.00
R0426:Acadl UTSW 1 66841646 missense probably damaging 0.99
R0639:Acadl UTSW 1 66857408 missense probably benign
R1264:Acadl UTSW 1 66857553 missense probably benign 0.00
R1589:Acadl UTSW 1 66853223 missense probably benign 0.04
R2066:Acadl UTSW 1 66841746 splice site probably null
R3735:Acadl UTSW 1 66853289 missense probably benign 0.41
R4646:Acadl UTSW 1 66831443 missense probably benign 0.00
R5690:Acadl UTSW 1 66853286 missense probably damaging 1.00
R6185:Acadl UTSW 1 66838363 missense possibly damaging 0.72
R7686:Acadl UTSW 1 66848398 critical splice donor site probably null
R7699:Acadl UTSW 1 66838363 missense possibly damaging 0.72
R7700:Acadl UTSW 1 66838363 missense possibly damaging 0.72
R7858:Acadl UTSW 1 66838324 missense probably benign 0.11
R7941:Acadl UTSW 1 66838324 missense probably benign 0.11
R8052:Acadl UTSW 1 66853178 missense probably benign 0.35
Posted On2016-08-02