Incidental Mutation 'IGL00430:Hadha'
ID6467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hadha
Ensembl Gene ENSMUSG00000025745
Gene Namehydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
SynonymsMtpa
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00430
Quality Score
Status
Chromosome5
Chromosomal Location30118304-30155162 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 30120147 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 682 (V682M)
Ref Sequence ENSEMBL: ENSMUSP00000120976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058045] [ENSMUST00000156859]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000026843
Predicted Effect probably benign
Transcript: ENSMUST00000058045
SMART Domains Protein: ENSMUSP00000054208
Gene: ENSMUSG00000044576

DomainStartEndE-ValueType
Pfam:CABIT 29 337 1.2e-77 PFAM
low complexity region 379 405 N/A INTRINSIC
low complexity region 464 486 N/A INTRINSIC
low complexity region 524 534 N/A INTRINSIC
low complexity region 538 553 N/A INTRINSIC
low complexity region 569 588 N/A INTRINSIC
low complexity region 640 663 N/A INTRINSIC
low complexity region 674 684 N/A INTRINSIC
low complexity region 686 696 N/A INTRINSIC
PDB:2DKZ|A 794 878 3e-30 PDB
Blast:SAM 812 879 6e-35 BLAST
SCOP:d1kw4a_ 816 877 1e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132486
Predicted Effect possibly damaging
Transcript: ENSMUST00000156859
AA Change: V682M

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120976
Gene: ENSMUSG00000025745
AA Change: V682M

DomainStartEndE-ValueType
Pfam:ECH_1 44 297 3.6e-42 PFAM
Pfam:ECH_2 49 225 8.6e-27 PFAM
Pfam:3HCDH_N 363 542 1e-54 PFAM
Pfam:3HCDH 544 639 7.7e-29 PFAM
low complexity region 706 720 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within 36 hours with hypoglycemia and liver steatosis. Liver steatosis and insulin resistance develop in heterozygotes with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,784,202 S17N probably benign Het
Atp2a1 C T 7: 126,447,216 W72* probably null Het
Baz2b C A 2: 59,912,795 A1611S probably benign Het
Cep290 A T 10: 100,508,724 I475L probably benign Het
Cpsf4l C T 11: 113,709,218 probably benign Het
Crispld2 A T 8: 120,033,560 R408S probably damaging Het
Cyp3a25 A T 5: 145,993,360 M145K probably damaging Het
Dexi A T 16: 10,542,445 D82E probably benign Het
Epyc A T 10: 97,681,147 K282N probably benign Het
Ercc6l2 G T 13: 63,858,319 V588F probably damaging Het
Galnt14 C T 17: 73,494,232 V532I probably damaging Het
Grk1 C A 8: 13,413,128 Y383* probably null Het
Gtpbp1 G T 15: 79,719,136 G609W possibly damaging Het
Igdcc3 A C 9: 65,182,019 D499A probably damaging Het
Kcna10 T G 3: 107,194,728 V225G probably damaging Het
Kcnh4 T C 11: 100,757,654 T75A possibly damaging Het
Lama4 A G 10: 39,045,704 E407G possibly damaging Het
Mrpl13 T A 15: 55,540,201 K105N probably damaging Het
Pcdhb2 A T 18: 37,296,463 probably null Het
Pck2 C T 14: 55,543,944 A209V probably benign Het
Plce1 A G 19: 38,725,017 E1243G probably damaging Het
Plekhh2 A T 17: 84,521,775 M25L probably benign Het
Rasef G A 4: 73,771,425 Q117* probably null Het
Rbm14 A G 19: 4,811,426 V28A probably damaging Het
Rcan2 A G 17: 43,836,384 T38A probably benign Het
Rin1 A G 19: 5,051,376 N96S probably benign Het
Rrp12 A G 19: 41,877,334 probably null Het
Slco1a6 A T 6: 142,101,651 C404* probably null Het
St6galnac3 T C 3: 153,509,403 N38S probably benign Het
Top2b T A 14: 16,422,692 S1376R probably benign Het
Trip11 T C 12: 101,886,147 I553V probably benign Het
Trip12 T G 1: 84,763,861 H559P probably damaging Het
Uggt2 A T 14: 119,026,429 L1063* probably null Het
Zmym6 T A 4: 127,101,949 C269* probably null Het
Other mutations in Hadha
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Hadha APN 5 30122173 missense probably benign 0.12
IGL01413:Hadha APN 5 30141027 missense probably benign 0.01
IGL01715:Hadha APN 5 30120084 missense probably damaging 1.00
IGL02065:Hadha APN 5 30142845 splice site probably benign
IGL02316:Hadha APN 5 30126567 missense probably benign 0.04
IGL02366:Hadha APN 5 30135050 missense probably benign 0.01
IGL02453:Hadha APN 5 30144306 splice site probably benign
IGL02611:Hadha APN 5 30128943 splice site probably benign
IGL03127:Hadha APN 5 30134186 splice site probably benign
IGL03181:Hadha APN 5 30121526 missense probably benign 0.20
R1381:Hadha UTSW 5 30128836 missense probably benign
R1501:Hadha UTSW 5 30128806 missense probably benign 0.02
R2060:Hadha UTSW 5 30128836 missense probably benign 0.30
R3764:Hadha UTSW 5 30144209 missense probably damaging 1.00
R3778:Hadha UTSW 5 30120129 missense probably damaging 0.98
R5025:Hadha UTSW 5 30154961 unclassified probably benign
R5523:Hadha UTSW 5 30145254 missense possibly damaging 0.78
R5870:Hadha UTSW 5 30144286 missense possibly damaging 0.61
R6054:Hadha UTSW 5 30123684 missense probably benign 0.00
R6144:Hadha UTSW 5 30140996 missense probably benign 0.04
R6245:Hadha UTSW 5 30120044 critical splice donor site probably null
R6495:Hadha UTSW 5 30120050 missense probably benign 0.03
R6862:Hadha UTSW 5 30147979 critical splice donor site probably null
R7038:Hadha UTSW 5 30120000 splice site probably null
R7200:Hadha UTSW 5 30145317 missense probably benign 0.25
R7215:Hadha UTSW 5 30119842 missense probably benign 0.00
R7267:Hadha UTSW 5 30122757 missense probably damaging 1.00
R7414:Hadha UTSW 5 30126612 missense possibly damaging 0.95
R8172:Hadha UTSW 5 30145287 missense probably damaging 0.97
R8429:Hadha UTSW 5 30144257 missense probably benign 0.00
R8494:Hadha UTSW 5 30142812 missense probably damaging 1.00
R8516:Hadha UTSW 5 30126584 missense probably damaging 1.00
Posted On2012-04-20