Incidental Mutation 'IGL01715:Hadha'
ID 278788
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hadha
Ensembl Gene ENSMUSG00000025745
Gene Name hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Synonyms Mtpa
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01715
Quality Score
Status
Chromosome 5
Chromosomal Location 30324421-30359978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30325082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 703 (G703R)
Ref Sequence ENSEMBL: ENSMUSP00000120976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058045] [ENSMUST00000156859]
AlphaFold Q8BMS1
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 probably damaging
Transcript: ENSMUST00000156859
AA Change: G703R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120976
Gene: ENSMUSG00000025745
AA Change: G703R

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A G 15: 11,258,182 (GRCm39) N498D possibly damaging Het
Ap5s1 T C 2: 131,053,293 (GRCm39) S26P probably damaging Het
Apaf1 T C 10: 90,894,216 (GRCm39) Y473C probably benign Het
Cdc42ep4 C T 11: 113,620,268 (GRCm39) G41D probably damaging Het
Ddx42 T A 11: 106,115,101 (GRCm39) Y60N probably damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Drd3 T A 16: 43,641,631 (GRCm39) L316M probably damaging Het
Lrrc74a A C 12: 86,801,189 (GRCm39) M347L probably benign Het
Macf1 G T 4: 123,284,879 (GRCm39) Q4208K probably damaging Het
Myh15 C T 16: 48,877,847 (GRCm39) probably benign Het
Ndufa7 A T 17: 34,057,122 (GRCm39) M101L probably benign Het
Pla2g6 A G 15: 79,202,057 (GRCm39) V38A probably benign Het
Sar1a A G 10: 61,521,406 (GRCm39) probably benign Het
Sdc3 A G 4: 130,546,378 (GRCm39) T246A probably damaging Het
Sds C T 5: 120,617,272 (GRCm39) R43* probably null Het
Slc9a9 A G 9: 94,842,499 (GRCm39) Y350C probably damaging Het
Strc T A 2: 121,196,218 (GRCm39) probably null Het
Tln1 A G 4: 43,555,890 (GRCm39) V108A probably damaging Het
Vmn2r111 G T 17: 22,788,054 (GRCm39) probably benign Het
Wnk1 G A 6: 119,925,358 (GRCm39) P1369S probably damaging Het
Zfhx4 T A 3: 5,307,105 (GRCm39) D110E probably benign Het
Zfp462 A G 4: 55,008,586 (GRCm39) Y184C probably benign Het
Other mutations in Hadha
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Hadha APN 5 30,325,145 (GRCm39) missense possibly damaging 0.94
IGL00435:Hadha APN 5 30,327,171 (GRCm39) missense probably benign 0.12
IGL01413:Hadha APN 5 30,346,025 (GRCm39) missense probably benign 0.01
IGL02065:Hadha APN 5 30,347,843 (GRCm39) splice site probably benign
IGL02316:Hadha APN 5 30,331,565 (GRCm39) missense probably benign 0.04
IGL02366:Hadha APN 5 30,340,048 (GRCm39) missense probably benign 0.01
IGL02453:Hadha APN 5 30,349,304 (GRCm39) splice site probably benign
IGL02611:Hadha APN 5 30,333,941 (GRCm39) splice site probably benign
IGL03127:Hadha APN 5 30,339,184 (GRCm39) splice site probably benign
IGL03181:Hadha APN 5 30,326,524 (GRCm39) missense probably benign 0.20
R1381:Hadha UTSW 5 30,333,834 (GRCm39) missense probably benign
R1501:Hadha UTSW 5 30,333,804 (GRCm39) missense probably benign 0.02
R2060:Hadha UTSW 5 30,333,834 (GRCm39) missense probably benign 0.30
R3764:Hadha UTSW 5 30,349,207 (GRCm39) missense probably damaging 1.00
R3778:Hadha UTSW 5 30,325,127 (GRCm39) missense probably damaging 0.98
R5025:Hadha UTSW 5 30,359,959 (GRCm39) unclassified probably benign
R5523:Hadha UTSW 5 30,350,252 (GRCm39) missense possibly damaging 0.78
R5870:Hadha UTSW 5 30,349,284 (GRCm39) missense possibly damaging 0.61
R6054:Hadha UTSW 5 30,328,682 (GRCm39) missense probably benign 0.00
R6144:Hadha UTSW 5 30,345,994 (GRCm39) missense probably benign 0.04
R6245:Hadha UTSW 5 30,325,042 (GRCm39) critical splice donor site probably null
R6495:Hadha UTSW 5 30,325,048 (GRCm39) missense probably benign 0.03
R6862:Hadha UTSW 5 30,352,977 (GRCm39) critical splice donor site probably null
R7038:Hadha UTSW 5 30,324,998 (GRCm39) splice site probably null
R7200:Hadha UTSW 5 30,350,315 (GRCm39) missense probably benign 0.25
R7215:Hadha UTSW 5 30,324,840 (GRCm39) missense probably benign 0.00
R7267:Hadha UTSW 5 30,327,755 (GRCm39) missense probably damaging 1.00
R7414:Hadha UTSW 5 30,331,610 (GRCm39) missense possibly damaging 0.95
R8172:Hadha UTSW 5 30,350,285 (GRCm39) missense probably damaging 0.97
R8429:Hadha UTSW 5 30,349,255 (GRCm39) missense probably benign 0.00
R8494:Hadha UTSW 5 30,347,810 (GRCm39) missense probably damaging 1.00
R8516:Hadha UTSW 5 30,331,582 (GRCm39) missense probably damaging 1.00
R9180:Hadha UTSW 5 30,340,038 (GRCm39) missense probably benign
R9618:Hadha UTSW 5 30,339,165 (GRCm39) missense possibly damaging 0.73
Posted On 2015-04-16