Incidental Mutation 'IGL03028:Ehhadh'
ID 408267
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 # IGL03028
Quality Score
Status
Chromosome 16
Chromosomal Location 21580037-21606557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21581144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 616 (E616G)
Ref Sequence ENSEMBL: ENSMUSP00000023559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023559]
AlphaFold Q9DBM2
Predicted Effect probably damaging
Transcript: ENSMUST00000023559
AA Change: E616G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: E616G

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,506,062 (GRCm39) V86G probably benign Het
Adgra3 A T 5: 50,174,194 (GRCm39) W115R probably benign Het
Ahr G A 12: 35,554,709 (GRCm39) A470V probably benign Het
Aoah A T 13: 21,000,752 (GRCm39) Q62L possibly damaging Het
Arhgef12 A T 9: 42,937,524 (GRCm39) D100E possibly damaging Het
Asic1 A G 15: 99,570,038 (GRCm39) N120D probably benign Het
Atp2b2 A G 6: 113,736,103 (GRCm39) L988P probably damaging Het
Atxn2 T A 5: 121,948,972 (GRCm39) H789Q probably damaging Het
Clk1 G T 1: 58,460,261 (GRCm39) S123* probably null Het
Col10a1 C T 10: 34,271,012 (GRCm39) A328V probably benign Het
Col26a1 G T 5: 136,771,972 (GRCm39) D415E possibly damaging Het
Ctla2a A G 13: 61,083,273 (GRCm39) probably benign Het
Cwf19l2 A G 9: 3,430,622 (GRCm39) E318G probably benign Het
Dnajc16 C T 4: 141,495,043 (GRCm39) W523* probably null Het
F5 A T 1: 164,020,569 (GRCm39) K1015* probably null Het
Fam78a A G 2: 31,972,894 (GRCm39) W9R possibly damaging Het
Frs2 A T 10: 116,909,838 (GRCm39) M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 (GRCm38) M200L probably benign Het
Gm44511 T C 6: 128,757,358 (GRCm39) S179G probably damaging Het
Gpr25 G A 1: 136,188,550 (GRCm39) S21L probably benign Het
Hsdl2 A G 4: 59,594,471 (GRCm39) D34G probably damaging Het
Kcnt1 A G 2: 25,799,215 (GRCm39) probably null Het
Kl A G 5: 150,915,015 (GRCm39) Y914C probably damaging Het
Map3k3 T G 11: 106,001,577 (GRCm39) V45G probably damaging Het
Mppe1 A C 18: 67,360,755 (GRCm39) C261W probably damaging Het
Nin T C 12: 70,082,044 (GRCm39) T1640A probably benign Het
Or51a8 T A 7: 102,550,036 (GRCm39) I154N possibly damaging Het
Or51ac3 A G 7: 103,213,796 (GRCm39) probably null Het
Or5c1 C T 2: 37,221,968 (GRCm39) L70F probably damaging Het
Or5p59 T A 7: 107,703,380 (GRCm39) M288K probably damaging Het
Or7g26 A T 9: 19,230,664 (GRCm39) Y284F probably damaging Het
Oxr1 A G 15: 41,680,559 (GRCm39) N166D probably damaging Het
Pank4 T A 4: 155,054,442 (GRCm39) probably benign Het
Pgd A G 4: 149,246,084 (GRCm39) probably null Het
Pitrm1 C T 13: 6,624,429 (GRCm39) H831Y probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Rad51 A C 2: 118,946,795 (GRCm39) M1L possibly damaging Het
Recql5 G T 11: 115,785,257 (GRCm39) S746R possibly damaging Het
Rhbdl3 C T 11: 80,214,287 (GRCm39) Q133* probably null Het
Rpp40 A T 13: 36,088,494 (GRCm39) L59Q probably damaging Het
Rtca C A 3: 116,286,741 (GRCm39) probably benign Het
Rtkn C T 6: 83,124,853 (GRCm39) Q108* probably null Het
Shoc1 A C 4: 59,094,274 (GRCm39) I150S possibly damaging Het
Sirt6 C T 10: 81,463,375 (GRCm39) probably benign Het
Slc9a4 G A 1: 40,649,537 (GRCm39) V517M probably benign Het
Smarca2 G T 19: 26,655,712 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,735 (GRCm39) D111E probably benign Het
Tgfb1 T C 7: 25,403,621 (GRCm39) I311T probably damaging Het
Tgfb2 C T 1: 186,362,806 (GRCm39) probably null Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tnfsf4 T C 1: 161,223,213 (GRCm39) F21L possibly damaging Het
Ubr5 T C 15: 38,047,837 (GRCm39) T47A probably benign Het
Unc79 T C 12: 103,139,785 (GRCm39) V2515A possibly damaging Het
Utp6 T C 11: 79,844,450 (GRCm39) K192E probably damaging Het
Vmn2r102 T C 17: 19,914,328 (GRCm39) F631S possibly damaging Het
Zfp516 A C 18: 82,974,038 (GRCm39) I79L 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
IGL02946:Ehhadh APN 16 21,581,672 (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 2016-08-02