Incidental Mutation 'IGL02946:Ehhadh'
ID364742
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ehhadh
Ensembl Gene ENSMUSG00000022853
Gene Nameenoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase
SynonymsMFP, L-PBE, MFP1, L-bifunctional enzyme, 1300002P22Rik, HD
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02946
Quality Score
Status
Chromosome16
Chromosomal Location21761287-21787807 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 21762922 bp
ZygosityHeterozygous
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]
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: 110,028,215 probably benign Het
Actr3b T C 5: 25,848,483 I270T possibly damaging Het
Adgrf2 T C 17: 42,710,493 Y480C probably damaging Het
Arhgap27 T C 11: 103,338,348 T514A probably damaging Het
BC031181 C T 18: 75,008,665 probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ccm2 G A 11: 6,596,195 R335H probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Crabp1 T C 9: 54,764,948 F16S possibly damaging Het
Crmp1 C T 5: 37,284,080 A502V probably damaging Het
Fam129a A T 1: 151,649,425 I194F probably damaging Het
Galnt3 T A 2: 66,095,218 I392L probably damaging Het
Gm12689 T A 4: 99,296,253 N114K unknown Het
Hspa2 A G 12: 76,405,173 T214A probably damaging Het
Itga7 T C 10: 128,934,083 I32T probably benign Het
Itgal A G 7: 127,314,368 S682G probably damaging Het
Kctd1 C T 18: 14,973,979 probably null Het
Lrp1b T A 2: 41,312,559 D439V probably damaging Het
Mdn1 A G 4: 32,734,366 K3258E probably damaging Het
Mgat4c T C 10: 102,389,253 S443P probably benign Het
Mylk G A 16: 34,921,788 G890E probably benign Het
Mylk2 T A 2: 152,919,210 L446* probably null Het
Olfr1395 T G 11: 49,148,892 F212V probably damaging Het
Pi4k2b T C 5: 52,753,207 F278L probably damaging Het
Pitpnm3 A G 11: 72,092,552 S84P probably benign Het
Plxna2 T C 1: 194,749,309 probably benign Het
Prr5l C A 2: 101,772,184 probably null Het
Ptprs T C 17: 56,424,032 T719A probably benign Het
Rasa3 T C 8: 13,598,280 H128R probably benign Het
Rhox13 A G X: 38,129,775 K205E probably damaging Het
Rif1 C A 2: 52,110,125 S1197* probably null Het
Sgta A G 10: 81,049,778 probably benign Het
Slc25a5 T A X: 36,797,853 M239K probably damaging Het
Stil T A 4: 115,029,913 H734Q probably benign Het
Stk32b T C 5: 37,531,539 probably benign Het
Ubr4 T G 4: 139,425,295 F1999C probably damaging Het
Wfdc2 A C 2: 164,564,089 T86P probably benign Het
Zfp407 T C 18: 84,560,709 S760G probably damaging Het
Zfp668 A T 7: 127,866,518 L498Q possibly damaging Het
Other mutations in Ehhadh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Ehhadh APN 16 21762629 missense possibly damaging 0.46
IGL02351:Ehhadh APN 16 21762870 missense probably damaging 1.00
IGL02358:Ehhadh APN 16 21762870 missense probably damaging 1.00
IGL03028:Ehhadh APN 16 21762394 missense probably damaging 1.00
IGL03274:Ehhadh APN 16 21763340 splice site probably benign
IGL03097:Ehhadh UTSW 16 21762770 missense probably benign
R0201:Ehhadh UTSW 16 21773493 critical splice donor site probably null
R0846:Ehhadh UTSW 16 21773497 nonsense probably null
R1194:Ehhadh UTSW 16 21762091 missense probably benign 0.10
R1601:Ehhadh UTSW 16 21766408 missense probably benign
R1739:Ehhadh UTSW 16 21762253 missense probably benign
R1829:Ehhadh UTSW 16 21762178 missense probably damaging 0.99
R4073:Ehhadh UTSW 16 21766507 missense probably benign 0.00
R4120:Ehhadh UTSW 16 21763184 missense probably benign
R4239:Ehhadh UTSW 16 21762688 missense probably damaging 1.00
R4303:Ehhadh UTSW 16 21762852 missense probably damaging 1.00
R4727:Ehhadh UTSW 16 21762431 missense probably benign 0.11
R4838:Ehhadh UTSW 16 21763202 missense possibly damaging 0.45
R5157:Ehhadh UTSW 16 21766511 missense probably benign 0.00
R5284:Ehhadh UTSW 16 21763344 splice site probably null
R5307:Ehhadh UTSW 16 21762692 missense probably benign 0.09
R5346:Ehhadh UTSW 16 21762790 missense probably damaging 1.00
R5872:Ehhadh UTSW 16 21766555 missense probably benign 0.01
R6762:Ehhadh UTSW 16 21762459 missense probably benign 0.01
R6960:Ehhadh UTSW 16 21762278 missense probably benign
R7153:Ehhadh UTSW 16 21766321 missense probably damaging 1.00
X0018:Ehhadh UTSW 16 21762448 missense probably benign 0.28
Posted On2015-12-18