Incidental Mutation 'IGL02946:Ehhadh'
ID 364742
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ehhadh
Ensembl Gene ENSMUSG00000022853
Gene Name enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase
Synonyms L-PBE, MFP1, L-bifunctional enzyme, MFP, 1300002P22Rik, HD
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02946
Quality Score
Status
Chromosome 16
Chromosomal Location 21580037-21606557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21581672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 440 (V440D)
Ref Sequence ENSEMBL: ENSMUSP00000023559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023559]
AlphaFold Q9DBM2
Predicted Effect probably damaging
Transcript: ENSMUST00000023559
AA Change: V440D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: V440D

DomainStartEndE-ValueType
Pfam:ECH_1 6 203 2.4e-41 PFAM
Pfam:ECH_2 11 254 3.2e-26 PFAM
Pfam:3HCDH_N 297 471 1e-55 PFAM
Pfam:3HCDH 473 577 2.7e-29 PFAM
Pfam:3HCDH 614 710 5.3e-10 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruption of this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,919,041 (GRCm39) probably benign Het
Actr3b T C 5: 26,053,481 (GRCm39) I270T possibly damaging Het
Adgrf2 T C 17: 43,021,384 (GRCm39) Y480C probably damaging Het
Arhgap27 T C 11: 103,229,174 (GRCm39) T514A probably damaging Het
BC031181 C T 18: 75,141,736 (GRCm39) probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ccm2 G A 11: 6,546,195 (GRCm39) R335H probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Crabp1 T C 9: 54,672,232 (GRCm39) F16S possibly damaging Het
Crmp1 C T 5: 37,441,424 (GRCm39) A502V probably damaging Het
Galnt3 T A 2: 65,925,562 (GRCm39) I392L probably damaging Het
Gm12689 T A 4: 99,184,490 (GRCm39) N114K unknown Het
Hspa2 A G 12: 76,451,947 (GRCm39) T214A probably damaging Het
Itga7 T C 10: 128,769,952 (GRCm39) I32T probably benign Het
Itgal A G 7: 126,913,540 (GRCm39) S682G probably damaging Het
Kctd1 C T 18: 15,107,036 (GRCm39) probably null Het
Lrp1b T A 2: 41,202,571 (GRCm39) D439V probably damaging Het
Mdn1 A G 4: 32,734,366 (GRCm39) K3258E probably damaging Het
Mgat4c T C 10: 102,225,114 (GRCm39) S443P probably benign Het
Mylk G A 16: 34,742,158 (GRCm39) G890E probably benign Het
Mylk2 T A 2: 152,761,130 (GRCm39) L446* probably null Het
Niban1 A T 1: 151,525,176 (GRCm39) I194F probably damaging Het
Or2t26 T G 11: 49,039,719 (GRCm39) F212V probably damaging Het
Pi4k2b T C 5: 52,910,549 (GRCm39) F278L probably damaging Het
Pitpnm3 A G 11: 71,983,378 (GRCm39) S84P probably benign Het
Plxna2 T C 1: 194,431,617 (GRCm39) probably benign Het
Prr5l C A 2: 101,602,529 (GRCm39) probably null Het
Ptprs T C 17: 56,731,032 (GRCm39) T719A probably benign Het
Rasa3 T C 8: 13,648,280 (GRCm39) H128R probably benign Het
Rhox13 A G X: 37,218,652 (GRCm39) K205E probably damaging Het
Rif1 C A 2: 52,000,137 (GRCm39) S1197* probably null Het
Sgta A G 10: 80,885,612 (GRCm39) probably benign Het
Slc25a5 T A X: 36,061,506 (GRCm39) M239K probably damaging Het
Stil T A 4: 114,887,110 (GRCm39) H734Q probably benign Het
Stk32b T C 5: 37,688,883 (GRCm39) probably benign Het
Ubr4 T G 4: 139,152,606 (GRCm39) F1999C probably damaging Het
Wfdc2 A C 2: 164,406,009 (GRCm39) T86P probably benign Het
Zfp407 T C 18: 84,578,834 (GRCm39) S760G probably damaging Het
Zfp668 A T 7: 127,465,690 (GRCm39) L498Q possibly damaging Het
Other mutations in Ehhadh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Ehhadh APN 16 21,581,379 (GRCm39) missense possibly damaging 0.46
IGL02351:Ehhadh APN 16 21,581,620 (GRCm39) missense probably damaging 1.00
IGL02358:Ehhadh APN 16 21,581,620 (GRCm39) missense probably damaging 1.00
IGL03028:Ehhadh APN 16 21,581,144 (GRCm39) missense probably damaging 1.00
IGL03274:Ehhadh APN 16 21,582,090 (GRCm39) splice site probably benign
IGL03097:Ehhadh UTSW 16 21,581,520 (GRCm39) missense probably benign
R0201:Ehhadh UTSW 16 21,592,243 (GRCm39) critical splice donor site probably null
R0846:Ehhadh UTSW 16 21,592,247 (GRCm39) nonsense probably null
R1194:Ehhadh UTSW 16 21,580,841 (GRCm39) missense probably benign 0.10
R1601:Ehhadh UTSW 16 21,585,158 (GRCm39) missense probably benign
R1739:Ehhadh UTSW 16 21,581,003 (GRCm39) missense probably benign
R1829:Ehhadh UTSW 16 21,580,928 (GRCm39) missense probably damaging 0.99
R4073:Ehhadh UTSW 16 21,585,257 (GRCm39) missense probably benign 0.00
R4120:Ehhadh UTSW 16 21,581,934 (GRCm39) missense probably benign
R4239:Ehhadh UTSW 16 21,581,438 (GRCm39) missense probably damaging 1.00
R4303:Ehhadh UTSW 16 21,581,602 (GRCm39) missense probably damaging 1.00
R4727:Ehhadh UTSW 16 21,581,181 (GRCm39) missense probably benign 0.11
R4838:Ehhadh UTSW 16 21,581,952 (GRCm39) missense possibly damaging 0.45
R5157:Ehhadh UTSW 16 21,585,261 (GRCm39) missense probably benign 0.00
R5284:Ehhadh UTSW 16 21,582,094 (GRCm39) splice site probably null
R5307:Ehhadh UTSW 16 21,581,442 (GRCm39) missense probably benign 0.09
R5346:Ehhadh UTSW 16 21,581,540 (GRCm39) missense probably damaging 1.00
R5872:Ehhadh UTSW 16 21,585,305 (GRCm39) missense probably benign 0.01
R6762:Ehhadh UTSW 16 21,581,209 (GRCm39) missense probably benign 0.01
R6960:Ehhadh UTSW 16 21,581,028 (GRCm39) missense probably benign
R7153:Ehhadh UTSW 16 21,585,071 (GRCm39) missense probably damaging 1.00
R7714:Ehhadh UTSW 16 21,585,140 (GRCm39) missense probably damaging 0.98
R8022:Ehhadh UTSW 16 21,596,570 (GRCm39) missense probably benign 0.01
R8054:Ehhadh UTSW 16 21,592,243 (GRCm39) critical splice donor site probably null
R8221:Ehhadh UTSW 16 21,581,373 (GRCm39) missense possibly damaging 0.77
R8263:Ehhadh UTSW 16 21,592,295 (GRCm39) missense probably damaging 1.00
R8316:Ehhadh UTSW 16 21,585,053 (GRCm39) missense probably benign 0.02
R8549:Ehhadh UTSW 16 21,585,168 (GRCm39) missense probably benign 0.01
R8873:Ehhadh UTSW 16 21,581,598 (GRCm39) missense probably damaging 1.00
R9320:Ehhadh UTSW 16 21,592,281 (GRCm39) missense probably benign
R9747:Ehhadh UTSW 16 21,585,138 (GRCm39) missense probably benign 0.00
R9774:Ehhadh UTSW 16 21,581,976 (GRCm39) missense probably benign 0.00
X0018:Ehhadh UTSW 16 21,581,198 (GRCm39) missense probably benign 0.28
Z1177:Ehhadh UTSW 16 21,581,038 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18