Incidental Mutation 'R4747:Acadvl'
ID 357211
Institutional Source Beutler Lab
Gene Symbol Acadvl
Ensembl Gene ENSMUSG00000018574
Gene Name acyl-Coenzyme A dehydrogenase, very long chain
Synonyms VLCAD
MMRRC Submission 042029-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.484) question?
Stock # R4747 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69901009-69906237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 69903334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 340 (N340K)
Ref Sequence ENSEMBL: ENSMUSP00000099634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018718] [ENSMUST00000019362] [ENSMUST00000102574] [ENSMUST00000102575] [ENSMUST00000108589] [ENSMUST00000123687] [ENSMUST00000231506] [ENSMUST00000133140] [ENSMUST00000190940]
AlphaFold P50544
Predicted Effect probably damaging
Transcript: ENSMUST00000018718
AA Change: N318K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018718
Gene: ENSMUSG00000018574
AA Change: N318K

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 74 188 4.4e-22 PFAM
Pfam:Acyl-CoA_dh_M 192 245 5.1e-20 PFAM
Pfam:Acyl-CoA_dh_1 306 455 6.7e-41 PFAM
Pfam:Acyl-CoA_dh_2 321 445 2.8e-12 PFAM
Blast:HisKA 460 557 6e-10 BLAST
low complexity region 558 569 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000019362
SMART Domains Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888

DomainStartEndE-ValueType
DAX 11 93 2.31e-56 SMART
Pfam:Dishevelled 103 263 1.5e-60 PFAM
PDZ 276 355 1.65e-15 SMART
low complexity region 395 407 N/A INTRINSIC
DEP 433 507 6.6e-29 SMART
Pfam:Dsh_C 515 726 1.1e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083600
Predicted Effect probably damaging
Transcript: ENSMUST00000102574
AA Change: N340K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099634
Gene: ENSMUSG00000018574
AA Change: N340K

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 96 210 2.5e-25 PFAM
Pfam:Acyl-CoA_dh_M 214 316 5.5e-25 PFAM
Pfam:Acyl-CoA_dh_1 328 477 2.5e-41 PFAM
Pfam:Acyl-CoA_dh_2 343 467 8.7e-14 PFAM
Blast:HisKA 482 579 7e-10 BLAST
low complexity region 580 591 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102575
SMART Domains Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888

DomainStartEndE-ValueType
DAX 11 93 2.31e-56 SMART
low complexity region 112 122 N/A INTRINSIC
Pfam:Dishevelled 160 232 8.1e-27 PFAM
low complexity region 250 262 N/A INTRINSIC
PDZ 276 355 1.65e-15 SMART
low complexity region 395 407 N/A INTRINSIC
DEP 433 507 6.6e-29 SMART
Pfam:Dsh_C 515 726 1.3e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000108586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152732
Predicted Effect probably benign
Transcript: ENSMUST00000108589
SMART Domains Protein: ENSMUSP00000104230
Gene: ENSMUSG00000020886

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
MAGUK_N_PEST 53 107 1.36e-4 SMART
PDZ 116 195 3.38e-21 SMART
PDZ 211 290 1.12e-21 SMART
PDZ 364 437 4.13e-25 SMART
SH3 474 540 1.68e-9 SMART
GuKc 576 755 3.65e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123687
SMART Domains Protein: ENSMUSP00000134545
Gene: ENSMUSG00000020886

DomainStartEndE-ValueType
SH3 11 77 1.68e-9 SMART
GuKc 113 205 7.37e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133140
SMART Domains Protein: ENSMUSP00000126707
Gene: ENSMUSG00000020886

DomainStartEndE-ValueType
PDZ 13 92 3.38e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190940
SMART Domains Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888

DomainStartEndE-ValueType
DAX 11 93 2.31e-56 SMART
low complexity region 112 122 N/A INTRINSIC
Pfam:Dishevelled 160 232 8.1e-27 PFAM
low complexity region 250 262 N/A INTRINSIC
PDZ 276 355 1.65e-15 SMART
low complexity region 395 407 N/A INTRINSIC
DEP 433 507 6.6e-29 SMART
Pfam:Dsh_C 515 726 1.3e-79 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a homodimeric 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 C16- and C20-acylCoA and localizes to the inner mitochondrial membrane (unlike related acyl-CoA dehydrogenases). In mice, deficiency of this gene can cause ventricular arrhythmias as well as fasting and cold intolerance. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutant animals exhibit mild steatosis, lipid accumulation in myocytes, increased fatigue, impaired temperature regulation, increased susceptibility to arrhythmia, accumulation of long-chain acylcarnitines, and lower free carnitine levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik A G 1: 63,795,568 (GRCm39) probably benign Het
Adgrl4 T A 3: 151,213,077 (GRCm39) N372K probably benign Het
Adh1 G A 3: 137,994,642 (GRCm39) G321S probably damaging Het
Ankrd26 G T 6: 118,504,718 (GRCm39) N730K probably benign Het
Aoc2 A T 11: 101,219,646 (GRCm39) probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Ccdc7b T C 8: 129,904,716 (GRCm39) V118A probably benign Het
Ccdc88b T A 19: 6,833,509 (GRCm39) R219W probably damaging Het
Ccdc97 T C 7: 25,418,348 (GRCm39) probably null Het
Cfhr4 A T 1: 139,625,922 (GRCm39) C792S probably damaging Het
Ciao3 A T 17: 25,999,327 (GRCm39) Y247F probably benign Het
Cnot1 T C 8: 96,501,310 (GRCm39) N86S probably benign Het
Comp T C 8: 70,829,352 (GRCm39) C310R probably damaging Het
Crtc2 A T 3: 90,167,518 (GRCm39) N281Y probably damaging Het
Cryl1 T C 14: 57,550,559 (GRCm39) K102E probably damaging Het
Csf2ra G A 19: 61,214,491 (GRCm39) R225* probably null Het
Dao A T 5: 114,150,693 (GRCm39) D99V probably benign Het
Dgkd A G 1: 87,861,889 (GRCm39) T815A probably damaging Het
Dhrs7 T C 12: 72,699,892 (GRCm39) T247A probably benign Het
Dnah7c G C 1: 46,572,328 (GRCm39) D934H probably damaging Het
Dnajc15 T C 14: 78,081,896 (GRCm39) Y82C probably benign Het
Dnajc4 T C 19: 6,966,872 (GRCm39) Q152R probably damaging Het
Dsc1 T C 18: 20,227,615 (GRCm39) K541R probably damaging Het
Elp4 G A 2: 105,624,952 (GRCm39) R196C probably damaging Het
Epha8 GC G 4: 136,666,006 (GRCm39) probably null Het
Ercc6 T C 14: 32,291,864 (GRCm39) V1076A probably benign Het
Fgd4 T C 16: 16,241,793 (GRCm39) Y677C probably damaging Het
Fndc3b C A 3: 27,483,114 (GRCm39) C1028F probably damaging Het
Folr1 T A 7: 101,513,184 (GRCm39) D37V probably damaging Het
Gabrr3 T A 16: 59,268,277 (GRCm39) probably null Het
Garem1 C A 18: 21,263,000 (GRCm39) V605L probably benign Het
Gbp7 A T 3: 142,248,778 (GRCm39) D347V probably damaging Het
Gdpd4 A G 7: 97,610,840 (GRCm39) T87A possibly damaging Het
Gm12258 C A 11: 58,750,422 (GRCm39) H532Q probably damaging Het
Herc2 A G 7: 55,756,141 (GRCm39) E727G possibly damaging Het
Hfm1 G A 5: 107,065,389 (GRCm39) H97Y probably benign Het
Idua G T 5: 108,828,902 (GRCm39) R335L probably damaging Het
Ifi207 A G 1: 173,556,633 (GRCm39) S702P probably benign Het
Kif16b A T 2: 142,699,346 (GRCm39) V78D probably damaging Het
Klra17 T A 6: 129,849,232 (GRCm39) D114V probably damaging Het
Krt76 A G 15: 101,794,180 (GRCm39) S481P probably damaging Het
Lhfpl5 A G 17: 28,798,950 (GRCm39) D153G probably damaging Het
Med21 T A 6: 146,550,700 (GRCm39) D70E possibly damaging Het
Mroh3 A T 1: 136,113,237 (GRCm39) M739K probably benign Het
Myo1a A G 10: 127,550,307 (GRCm39) E549G probably damaging Het
Neu1 A G 17: 35,153,359 (GRCm39) D294G possibly damaging Het
Nmur2 A T 11: 55,931,105 (GRCm39) I202K probably benign Het
Nop2 T A 6: 125,114,057 (GRCm39) D174E probably benign Het
Ogfr A T 2: 180,236,216 (GRCm39) H267L probably damaging Het
Or10p1 G T 10: 129,444,053 (GRCm39) A99E possibly damaging Het
Or5m8 A G 2: 85,822,271 (GRCm39) T37A probably damaging Het
P2ry13 T A 3: 59,117,308 (GRCm39) I157F probably benign Het
Pank4 T C 4: 155,063,989 (GRCm39) V660A probably damaging Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Pcdhb13 T C 18: 37,577,868 (GRCm39) Y749H probably damaging Het
Pcdhga3 C A 18: 37,809,799 (GRCm39) Q751K probably benign Het
Pcnt C T 10: 76,272,299 (GRCm39) E186K possibly damaging Het
Pecam1 A T 11: 106,575,072 (GRCm39) F613I probably benign Het
Pias2 T C 18: 77,240,488 (GRCm39) *615Q probably null Het
Plb1 A T 5: 32,507,003 (GRCm39) M1193L probably benign Het
Pomgnt1 T C 4: 116,013,396 (GRCm39) L506P probably damaging Het
Qrfp T C 2: 31,698,852 (GRCm39) T27A probably damaging Het
Relb C A 7: 19,361,847 (GRCm39) probably null Het
Resf1 A T 6: 149,228,392 (GRCm39) E479D probably damaging Het
Rgl1 G T 1: 152,400,450 (GRCm39) C685* probably null Het
Ric8b A G 10: 84,753,628 (GRCm39) Y8C probably benign Het
Rrp36 G A 17: 46,980,893 (GRCm39) A161V possibly damaging Het
Samd9l G A 6: 3,375,504 (GRCm39) Q586* probably null Het
Sbf1 C T 15: 89,186,916 (GRCm39) D821N probably damaging Het
Septin8 G C 11: 53,427,545 (GRCm39) A255P probably damaging Het
Skp2 T C 15: 9,113,927 (GRCm39) T329A possibly damaging Het
Slc15a2 C T 16: 36,592,498 (GRCm39) V220M probably damaging Het
Slc25a11 T A 11: 70,536,782 (GRCm39) T63S possibly damaging Het
Sowahc T C 10: 59,058,983 (GRCm39) I373T probably benign Het
Sptbn2 T A 19: 4,798,182 (GRCm39) M1969K probably benign Het
St14 G A 9: 31,015,053 (GRCm39) T315M possibly damaging Het
Tagap G A 17: 8,151,030 (GRCm39) R284H probably benign Het
Tdpoz3 T A 3: 93,733,476 (GRCm39) S50R possibly damaging Het
Thoc5 A G 11: 4,854,187 (GRCm39) D182G probably damaging Het
Tinag A G 9: 76,904,238 (GRCm39) V395A probably benign Het
Tmc8 A G 11: 117,683,550 (GRCm39) S702G probably benign Het
Tmem202 A G 9: 59,426,477 (GRCm39) S230P possibly damaging Het
Tmem203 T C 2: 25,145,764 (GRCm39) V28A probably benign Het
Traf3ip1 A T 1: 91,455,479 (GRCm39) S647C probably damaging Het
Tram1 A T 1: 13,659,870 (GRCm39) I26N probably damaging Het
Ttc6 A T 12: 57,721,478 (GRCm39) D989V possibly damaging Het
Ttll6 A G 11: 96,036,372 (GRCm39) T334A possibly damaging Het
Ttn A T 2: 76,750,086 (GRCm39) D3654E probably damaging Het
Ufd1 T G 16: 18,639,832 (GRCm39) V112G probably damaging Het
Usp9y A T Y: 1,391,284 (GRCm39) Y629N possibly damaging Het
Vmn2r1 A G 3: 63,989,267 (GRCm39) I69V probably benign Het
Zfp180 A T 7: 23,805,246 (GRCm39) Y555F probably damaging Het
Zfp438 T C 18: 5,214,403 (GRCm39) N185S probably benign Het
Zfp445 C T 9: 122,686,215 (GRCm39) V15I possibly damaging Het
Zfp462 A G 4: 55,013,476 (GRCm39) E1814G probably benign Het
Other mutations in Acadvl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03391:Acadvl APN 11 69,901,542 (GRCm39) missense probably damaging 0.99
IGL03396:Acadvl APN 11 69,902,239 (GRCm39) nonsense probably null
R1122:Acadvl UTSW 11 69,902,203 (GRCm39) missense probably damaging 1.00
R1271:Acadvl UTSW 11 69,905,526 (GRCm39) missense probably damaging 1.00
R1435:Acadvl UTSW 11 69,905,642 (GRCm39) missense probably benign 0.00
R1519:Acadvl UTSW 11 69,905,617 (GRCm39) critical splice donor site probably null
R1710:Acadvl UTSW 11 69,901,181 (GRCm39) missense probably damaging 1.00
R1853:Acadvl UTSW 11 69,901,696 (GRCm39) missense probably damaging 1.00
R4822:Acadvl UTSW 11 69,902,010 (GRCm39) missense probably benign 0.01
R5700:Acadvl UTSW 11 69,904,029 (GRCm39) missense probably damaging 0.99
R6312:Acadvl UTSW 11 69,902,593 (GRCm39) missense probably damaging 0.99
R6482:Acadvl UTSW 11 69,902,388 (GRCm39) missense probably benign 0.00
R6489:Acadvl UTSW 11 69,901,145 (GRCm39) missense probably benign 0.00
R6904:Acadvl UTSW 11 69,905,159 (GRCm39) missense probably benign 0.31
R7009:Acadvl UTSW 11 69,905,617 (GRCm39) critical splice donor site probably null
R7623:Acadvl UTSW 11 69,901,569 (GRCm39) missense probably damaging 1.00
R8103:Acadvl UTSW 11 69,905,168 (GRCm39) missense probably benign 0.00
R8439:Acadvl UTSW 11 69,902,554 (GRCm39) nonsense probably null
R8556:Acadvl UTSW 11 69,904,376 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTCAGTTTCCACCTGGACGG -3'
(R):5'- CCTGATCATGAGACCCGAAAAGG -3'

Sequencing Primer
(F):5'- ACCTGGACGGGCTGGAG -3'
(R):5'- GAAAAGGCCGTTTTCCCCC -3'
Posted On 2015-11-11