Incidental Mutation 'R1435:Acadvl'
ID 159468
Institutional Source Beutler Lab
Gene Symbol Acadvl
Ensembl Gene ENSMUSG00000018574
Gene Name acyl-Coenzyme A dehydrogenase, very long chain
Synonyms VLCAD
MMRRC Submission 039490-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.484) question?
Stock # R1435 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69901009-69906237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 69905642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 62 (T62P)
Ref Sequence ENSEMBL: ENSMUSP00000099634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018718] [ENSMUST00000019362] [ENSMUST00000102574] [ENSMUST00000102575] [ENSMUST00000133140] [ENSMUST00000231221] [ENSMUST00000134376] [ENSMUST00000108588] [ENSMUST00000123687] [ENSMUST00000108589] [ENSMUST00000190940] [ENSMUST00000231506] [ENSMUST00000231415] [ENSMUST00000232002]
AlphaFold P50544
Predicted Effect probably benign
Transcript: ENSMUST00000018718
SMART Domains Protein: ENSMUSP00000018718
Gene: ENSMUSG00000018574

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 benign
Transcript: ENSMUST00000102574
AA Change: T62P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099634
Gene: ENSMUSG00000018574
AA Change: T62P

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: ENSMUST00000156733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146129
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: ENSMUST00000231221
Predicted Effect probably benign
Transcript: ENSMUST00000134376
SMART Domains Protein: ENSMUSP00000115206
Gene: ENSMUSG00000020886

DomainStartEndE-ValueType
MAGUK_N_PEST 10 97 3.39e-37 SMART
PDZ 106 165 1.79e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108588
SMART Domains Protein: ENSMUSP00000104229
Gene: ENSMUSG00000020886

DomainStartEndE-ValueType
MAGUK_N_PEST 10 61 1e-7 SMART
PDZ 70 149 3.38e-21 SMART
PDZ 165 244 1.12e-21 SMART
PDZ 318 391 4.13e-25 SMART
SH3 428 494 1.68e-9 SMART
GuKc 530 709 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: 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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000231506
Predicted Effect probably benign
Transcript: ENSMUST00000231415
Predicted Effect probably benign
Transcript: ENSMUST00000232002
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.0%
  • 20x: 81.3%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amz1 A T 5: 140,733,921 (GRCm39) N166Y probably damaging Het
Anxa6 T C 11: 54,882,236 (GRCm39) Q518R probably benign Het
Aox3 G A 1: 58,202,605 (GRCm39) probably null Het
Arid1a C T 4: 133,408,009 (GRCm39) R2166Q unknown Het
Asb4 T G 6: 5,398,410 (GRCm39) I125S probably benign Het
Aspscr1 T C 11: 120,580,048 (GRCm39) S196P probably benign Het
Atxn3 A G 12: 101,908,460 (GRCm39) F131L probably benign Het
B3gnt5 T A 16: 19,587,924 (GRCm39) Y48N probably damaging Het
Bglap3 A G 3: 88,276,453 (GRCm39) M35T possibly damaging Het
Cabp1 A T 5: 115,311,267 (GRCm39) D79E probably damaging Het
Cemip2 A T 19: 21,822,070 (GRCm39) Q1155L probably benign Het
Chd2 C T 7: 73,102,884 (GRCm39) R1367Q probably damaging Het
Clec5a T A 6: 40,561,358 (GRCm39) Q29L probably damaging Het
Cmtr2 T C 8: 110,947,711 (GRCm39) L7P probably benign Het
Cnbd1 T C 4: 18,907,026 (GRCm39) I183V probably benign Het
Col7a1 G A 9: 108,792,341 (GRCm39) G1297D unknown Het
Csnk1g3 G A 18: 54,039,746 (GRCm39) probably null Het
Cyp4a32 A T 4: 115,463,863 (GRCm39) N134I probably damaging Het
Cyp4f16 CTATG CTATGTATG 17: 32,769,708 (GRCm39) probably null Het
Dst G A 1: 34,153,026 (GRCm39) V56M probably damaging Het
Engase A T 11: 118,375,727 (GRCm39) T32S probably damaging Het
Fam117b T C 1: 60,008,222 (GRCm39) I352T possibly damaging Het
Golga4 C A 9: 118,364,508 (GRCm39) D290E probably benign Het
Gtf2a1l C A 17: 89,001,743 (GRCm39) H153N probably damaging Het
Hivep1 C A 13: 42,311,519 (GRCm39) T1253N probably damaging Het
Hps1 T C 19: 42,750,714 (GRCm39) S398G probably benign Het
Il1r2 T A 1: 40,144,459 (GRCm39) F49I probably damaging Het
Iqsec1 A G 6: 90,649,006 (GRCm39) S808P probably damaging Het
Lrrk1 A G 7: 65,922,776 (GRCm39) L289P probably damaging Het
Magi2 T A 5: 20,563,943 (GRCm39) D358E probably damaging Het
Man2b2 A G 5: 36,970,411 (GRCm39) W832R probably damaging Het
Mfsd4a G T 1: 131,995,494 (GRCm39) T46K probably damaging Het
N4bp3 G A 11: 51,535,167 (GRCm39) R341W probably damaging Het
Odad2 T A 18: 7,222,646 (GRCm39) H541L probably benign Het
Or51f2 T C 7: 102,526,974 (GRCm39) S216P probably damaging Het
Or8s5 A T 15: 98,238,209 (GRCm39) H220Q possibly damaging Het
Otof A G 5: 30,536,039 (GRCm39) L1353S probably benign Het
Pcsk5 A T 19: 17,541,246 (GRCm39) C844* probably null Het
Pdk2 T C 11: 94,922,721 (GRCm39) Y153C probably damaging Het
Pes1 T C 11: 3,926,075 (GRCm39) V292A probably benign Het
Pex14 T C 4: 149,047,984 (GRCm39) T198A probably benign Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Pnpla2 G A 7: 141,037,324 (GRCm39) R109H probably benign Het
Polh G A 17: 46,505,181 (GRCm39) T145I probably damaging Het
Polr3d A T 14: 70,677,479 (GRCm39) V299E probably benign Het
Polr3e C T 7: 120,540,011 (GRCm39) T586M probably benign Het
Rbm20 T A 19: 53,802,588 (GRCm39) F365L probably benign Het
Resf1 A G 6: 149,227,580 (GRCm39) T209A probably benign Het
Rnf213 G T 11: 119,326,831 (GRCm39) C1606F probably damaging Het
Sipa1l2 A G 8: 126,195,464 (GRCm39) V758A probably damaging Het
Slc22a16 T A 10: 40,463,603 (GRCm39) M451K probably damaging Het
Slc28a1 T C 7: 80,803,265 (GRCm39) S359P probably damaging Het
Slc45a1 G T 4: 150,728,505 (GRCm39) F99L probably damaging Het
Sp3 A T 2: 72,768,500 (GRCm39) N754K possibly damaging Het
Taf4b A T 18: 14,940,466 (GRCm39) Q315L probably damaging Het
Tcstv2a T A 13: 120,725,524 (GRCm39) W63R probably damaging Het
Tmprss15 A T 16: 78,818,342 (GRCm39) N544K probably benign Het
Tnfsf13b A G 8: 10,085,358 (GRCm39) I283V probably benign Het
Tnfsf14 T A 17: 57,497,605 (GRCm39) E209V possibly damaging Het
Uckl1 T G 2: 181,214,926 (GRCm39) S283R probably benign Het
Ush1g T C 11: 115,209,294 (GRCm39) D300G probably damaging Het
Virma C T 4: 11,528,621 (GRCm39) A1286V probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r59 A T 7: 41,695,629 (GRCm39) M261K possibly damaging Het
Vwf A T 6: 125,619,212 (GRCm39) K1297* probably null Het
Zdbf2 G A 1: 63,342,199 (GRCm39) E193K possibly damaging Het
Zfp759 T G 13: 67,286,830 (GRCm39) I127S possibly damaging 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
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
R4747:Acadvl UTSW 11 69,903,334 (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'- CACCAGCTCTTTGAGAAATTGTGCC -3'
(R):5'- AGAAATGCGAGTTGCCAGTTCCC -3'

Sequencing Primer
(F):5'- AGCCTTTACTTACCAGATGGG -3'
(R):5'- GCAGTTCTGTCACTGAAAGTAG -3'
Posted On 2014-03-14