Incidental Mutation 'IGL03181:Hadha'
ID 412235
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 # IGL03181
Quality Score
Status
Chromosome 5
Chromosomal Location 30324421-30359978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30326524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 566 (V566A)
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 benign
Transcript: ENSMUST00000156859
AA Change: V566A

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120976
Gene: ENSMUSG00000025745
AA Change: V566A

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably damaging 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
IGL01715:Hadha APN 5 30,325,082 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02