Incidental Mutation 'IGL03127:Hadha'
ID410200
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 #IGL03127
Quality Score
Status
Chromosome5
Chromosomal Location30118304-30155162 bp(-) (GRCm38)
Type of Mutation
DNA Base Change (assembly) A to T at 30134186 bp
ZygosityHeterozygous
Amino Acid Change
Predicted Effect noncoding transcript
Transcript: ENSMUST00000026843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130358
Predicted Effect probably benign
Transcript: ENSMUST00000156859
SMART Domains Protein: ENSMUSP00000120976
Gene: ENSMUSG00000025745

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197491
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Amdhd2 A G 17: 24,157,738 probably null Het
Apol7c A G 15: 77,525,906 M280T probably benign Het
Atl2 T C 17: 79,852,854 M264V probably damaging Het
Ccdc141 C T 2: 77,029,235 probably null Het
Dtx4 T C 19: 12,486,500 probably benign Het
Dyrk4 G A 6: 126,897,171 T152I possibly damaging Het
F5 T A 1: 164,193,538 I1194N probably benign Het
Gadl1 C T 9: 115,948,664 T126M probably damaging Het
Gcnt7 A T 2: 172,454,411 C110* probably null Het
H2-M9 C T 17: 36,640,822 V254M possibly damaging Het
Kit T C 5: 75,641,188 M621T probably benign Het
Krt73 T C 15: 101,795,840 M422V probably benign Het
Neil2 T C 14: 63,191,808 H12R probably benign Het
Nrsn1 A G 13: 25,253,717 L76P probably damaging Het
Olfr1393 T G 11: 49,280,772 V208G possibly damaging Het
Olfr906 C A 9: 38,488,586 Q186K probably benign Het
Olfr924 T A 9: 38,848,209 Y32N probably damaging Het
Pot1a G A 6: 25,794,616 A23V probably benign Het
Ppp1r14d A G 2: 119,218,360 *147Q probably null Het
Ptger2 T C 14: 45,002,005 probably benign Het
Syne3 A T 12: 104,943,428 D716E probably benign Het
Tbc1d9 A G 8: 83,249,473 N554D probably damaging Het
Ushbp1 T A 8: 71,394,376 Q204L possibly damaging Het
Other mutations in Hadha
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Hadha APN 5 30120147 missense possibly damaging 0.94
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
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
IGL02611:Hadha APN 5 30128943
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
Posted On2016-08-02