Incidental Mutation 'IGL01296:Acadl'
ID 73109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acadl
Ensembl Gene ENSMUSG00000026003
Gene Name acyl-Coenzyme A dehydrogenase, long-chain
Synonyms LCAD, C79855
Accession Numbers

Genbank: NM_007381.3; Ensembl: ENSMUST00000027153, ENSMUST00000139208
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01296
Quality Score
Status
Chromosome 1
Chromosomal Location 66830839-66863277 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66841705 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 301 (S301P)
Ref Sequence ENSEMBL: ENSMUSP00000027153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027153]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027153
AA Change: S301P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027153
Gene: ENSMUSG00000026003
AA Change: S301P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139208
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A G 8: 43,651,141 V489A possibly damaging Het
Adcy8 G A 15: 64,783,779 T617I probably damaging Het
Aggf1 T C 13: 95,353,971 D605G probably damaging Het
Atp10a T A 7: 58,813,625 F969I probably benign Het
Becn1 A T 11: 101,291,451 N97K probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Crtac1 A T 19: 42,284,213 C578S probably damaging Het
Dcp1b A G 6: 119,215,358 K412E probably damaging Het
Dlg2 T A 7: 91,940,059 I327N probably damaging Het
Ehf T A 2: 103,268,155 probably null Het
Elavl4 T C 4: 110,206,612 N264S probably benign Het
Enpp2 A T 15: 54,875,669 I406N probably damaging Het
F10 A T 8: 13,055,383 Y316F possibly damaging Het
Fam20a A G 11: 109,685,351 I194T possibly damaging Het
Fcgbp T C 7: 28,089,647 V546A probably benign Het
Fras1 A T 5: 96,673,698 Q1438L probably null Het
Gm43638 T C 5: 87,460,592 I463V probably benign Het
Gm597 T C 1: 28,777,056 I632V probably benign Het
H2-T10 T C 17: 36,120,710 D84G probably benign Het
Itpr1 T C 6: 108,399,361 F1262L probably damaging Het
Lama1 A G 17: 67,745,051 N335D probably benign Het
Lasp1 T C 11: 97,836,190 V246A probably damaging Het
Lrrk2 A T 15: 91,683,142 I135L probably benign Het
Malrd1 G A 2: 16,101,957 probably null Het
Mctp2 T C 7: 72,228,526 K268R probably benign Het
Nbea A T 3: 56,031,536 H710Q probably benign Het
Notch3 G A 17: 32,166,757 R13C unknown Het
Ogfod1 A T 8: 94,055,671 probably benign Het
Olfr1465 A G 19: 13,314,126 L53P probably damaging Het
Olfr339 A G 2: 36,421,704 Y102C probably benign Het
Olfr924 T C 9: 38,848,252 I46T probably damaging Het
Pgm3 A G 9: 86,561,879 V324A probably damaging Het
Ppfia2 A T 10: 106,858,207 I681F probably damaging Het
Prss23 T C 7: 89,509,887 K325E possibly damaging Het
Psmd7 T A 8: 107,586,617 probably benign Het
Rfx2 T A 17: 56,808,317 M1L possibly damaging Het
Rpa1 T C 11: 75,312,315 Y418C probably damaging Het
Rps6kc1 C T 1: 190,773,678 R1029H probably damaging Het
Sept10 A G 10: 59,166,600 V391A probably benign Het
Skint6 A G 4: 113,236,440 F169L probably benign Het
Slc44a4 C T 17: 34,921,698 T289I probably benign Het
Srl T C 16: 4,497,682 D32G probably damaging Het
Stxbp3-ps T A 19: 9,557,892 noncoding transcript Het
Sult1b1 T C 5: 87,514,956 D295G probably benign Het
Tmprss7 A G 16: 45,684,574 V151A probably damaging Het
Trmo A G 4: 46,387,589 L84P probably damaging Het
Vmn2r98 T A 17: 19,065,185 I89N probably damaging Het
Zcwpw1 G A 5: 137,796,799 A86T probably benign Het
Zkscan16 A G 4: 58,956,690 H324R possibly damaging Het
Other mutations in Acadl
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03002:Acadl APN 1 66836969 missense probably benign 0.01
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
R8052:Acadl UTSW 1 66853178 missense probably benign 0.35
R8389:Acadl UTSW 1 66854747 missense probably damaging 1.00
R9381:Acadl UTSW 1 66854646 missense probably benign
R9457:Acadl UTSW 1 66853241 missense probably benign 0.36
Posted On 2013-10-07