Incidental Mutation 'R5025:Hadha'
ID 391291
Institutional Source Beutler Lab
Gene Symbol Hadha
Ensembl Gene ENSMUSG00000025745
Gene Name hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Synonyms Mtpa
MMRRC Submission 042616-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5025 (G1)
Quality Score 162
Status Validated
Chromosome 5
Chromosomal Location 30324421-30359978 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 30359959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026841] [ENSMUST00000114783] [ENSMUST00000114786] [ENSMUST00000123980] [ENSMUST00000197109] [ENSMUST00000156859]
AlphaFold Q8BMS1
Predicted Effect probably benign
Transcript: ENSMUST00000026841
SMART Domains Protein: ENSMUSP00000026841
Gene: ENSMUSG00000059447

DomainStartEndE-ValueType
Pfam:Thiolase_N 52 325 4.6e-96 PFAM
Pfam:ketoacyl-synt 86 193 1.8e-10 PFAM
Pfam:Thiolase_C 332 472 1.5e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000026843
Predicted Effect probably benign
Transcript: ENSMUST00000114783
SMART Domains Protein: ENSMUSP00000110431
Gene: ENSMUSG00000059447

DomainStartEndE-ValueType
Pfam:Thiolase_N 55 325 1.4e-90 PFAM
Pfam:ketoacyl-synt 90 194 1.4e-10 PFAM
Pfam:Thiolase_C 332 472 1.3e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114786
SMART Domains Protein: ENSMUSP00000110434
Gene: ENSMUSG00000059447

DomainStartEndE-ValueType
Pfam:Thiolase_N 52 325 4.6e-96 PFAM
Pfam:ketoacyl-synt 86 193 1.8e-10 PFAM
Pfam:Thiolase_C 332 472 1.5e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123980
SMART Domains Protein: ENSMUSP00000118296
Gene: ENSMUSG00000059447

DomainStartEndE-ValueType
Pfam:Thiolase_N 52 129 3.7e-20 PFAM
Pfam:Thiolase_N 119 173 3.3e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196156
Predicted Effect probably benign
Transcript: ENSMUST00000197109
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (40/40)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T A 7: 119,153,719 (GRCm39) F10I unknown Het
Adad1 G T 3: 37,119,359 (GRCm39) A147S probably damaging Het
Atg14 T G 14: 47,783,273 (GRCm39) N354T probably damaging Het
Brip1 T A 11: 85,955,806 (GRCm39) E902D probably benign Het
Brwd1 A G 16: 95,855,172 (GRCm39) S419P probably damaging Het
Camsap3 A G 8: 3,654,244 (GRCm39) K638R probably damaging Het
Dennd4c T A 4: 86,713,536 (GRCm39) probably null Het
Dnah3 T C 7: 119,671,128 (GRCm39) N585S probably benign Het
Eef1akmt2 C A 7: 132,453,218 (GRCm39) W38L probably damaging Het
Fasn A T 11: 120,702,734 (GRCm39) D1709E probably benign Het
Fbrsl1 T C 5: 110,565,767 (GRCm39) D179G probably damaging Het
Fbxl18 A T 5: 142,872,068 (GRCm39) I389N probably damaging Het
Fuca1 G T 4: 135,660,237 (GRCm39) G252C probably damaging Het
Fut9 T A 4: 25,620,502 (GRCm39) H104L probably damaging Het
Glra1 C T 11: 55,427,331 (GRCm39) probably null Het
Gpsm1 T C 2: 26,210,008 (GRCm39) V45A possibly damaging Het
Hddc2 C T 10: 31,203,949 (GRCm39) T192I probably benign Het
Herc1 A T 9: 66,377,608 (GRCm39) K3458M possibly damaging Het
Igkv14-100 A G 6: 68,496,383 (GRCm39) D92G probably damaging Het
Il17rc T C 6: 113,449,327 (GRCm39) V88A possibly damaging Het
Inpp5j T C 11: 3,450,664 (GRCm39) D563G probably damaging Het
Lamc3 T A 2: 31,798,681 (GRCm39) N462K probably benign Het
Mrpl15 T C 1: 4,854,368 (GRCm39) probably benign Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Obi1 C T 14: 104,745,466 (GRCm39) G70E probably damaging Het
Or2n1c T C 17: 38,519,334 (GRCm39) L66P probably damaging Het
Or5b122 G T 19: 13,562,886 (GRCm39) A30S probably benign Het
Psg20 T C 7: 18,408,291 (GRCm39) *473W probably null Het
Rimbp3 A G 16: 17,027,671 (GRCm39) E365G probably damaging Het
Snai2 A G 16: 14,526,053 (GRCm39) T235A possibly damaging Het
Tg A T 15: 66,579,779 (GRCm39) Y1528F probably damaging Het
Tlr3 A G 8: 45,856,075 (GRCm39) V35A probably benign Het
Tnfsf15 T C 4: 63,648,125 (GRCm39) I172V probably benign Het
Tns1 G A 1: 73,964,641 (GRCm39) T1330I probably damaging Het
Zc3h6 T A 2: 128,852,353 (GRCm39) F330I possibly damaging Het
Zdbf2 A G 1: 63,342,809 (GRCm39) E396G possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- ACAGTAGCCCCATTTCCACG -3'
(R):5'- AGGTCCTTAGTCTCACCTTCAGAG -3'

Sequencing Primer
(F):5'- CCATTTCCACGGGTCCC -3'
(R):5'- AGAGAAATCATCCTTTCGGCTCG -3'
Posted On 2016-06-06