Incidental Mutation 'R6762:Ehhadh'
ID 531760
Institutional Source Beutler Lab
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
MMRRC Submission 044878-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6762 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 21580037-21606557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21581209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 594 (F594L)
Ref Sequence ENSEMBL: ENSMUSP00000023559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023559]
AlphaFold Q9DBM2
Predicted Effect probably benign
Transcript: ENSMUST00000023559
AA Change: F594L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: F594L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,976,867 (GRCm39) Y27H probably benign Het
Angptl3 T A 4: 98,925,654 (GRCm39) S327T possibly damaging Het
Arl6ip4 GGAAGAAGAAGAAGAAGAA GGAAGAAGAAGAAGAAGAAGAA 5: 124,255,113 (GRCm39) probably benign Het
Cyp2s1 A T 7: 25,507,495 (GRCm39) L318H probably damaging Het
Dnah14 T C 1: 181,584,824 (GRCm39) L3185P probably damaging Het
Dnah7b T C 1: 46,263,902 (GRCm39) V2128A probably benign Het
En2 A G 5: 28,375,351 (GRCm39) N298S possibly damaging Het
Epha5 T A 5: 84,479,585 (GRCm39) N140Y probably damaging Het
Fam151b C T 13: 92,604,558 (GRCm39) V144I possibly damaging Het
Fanca C A 8: 123,998,042 (GRCm39) A1215S probably benign Het
Fancd2 T A 6: 113,562,977 (GRCm39) probably null Het
Fat2 T C 11: 55,144,308 (GRCm39) probably null Het
Gm4513 T C 7: 20,328,118 (GRCm39) N31S probably benign Het
Hspg2 A T 4: 137,279,114 (GRCm39) I3066F possibly damaging Het
Krt10 T C 11: 99,277,883 (GRCm39) T355A possibly damaging Het
Lims1 C A 10: 58,248,367 (GRCm39) H275N probably damaging Het
Map3k19 C T 1: 127,775,001 (GRCm39) G112D probably damaging Het
Mdn1 T A 4: 32,676,786 (GRCm39) N619K possibly damaging Het
Mtor A G 4: 148,622,938 (GRCm39) T1977A possibly damaging Het
Nos2 T G 11: 78,850,574 (GRCm39) L1144R possibly damaging Het
Or52ae7 G C 7: 103,119,596 (GRCm39) V117L probably benign Het
Or6c68 G A 10: 129,158,125 (GRCm39) C211Y probably damaging Het
Or8k38 A T 2: 86,488,188 (GRCm39) F205I probably benign Het
Pals2 T A 6: 50,157,418 (GRCm39) probably null Het
Pcdhga9 C A 18: 37,870,321 (GRCm39) S50Y probably damaging Het
Pfn4 T A 12: 4,825,487 (GRCm39) M108K probably damaging Het
Prep T C 10: 45,024,219 (GRCm39) probably null Het
Qtrt1 T A 9: 21,323,378 (GRCm39) H76Q probably damaging Het
Rpa1 T A 11: 75,231,171 (GRCm39) S73C possibly damaging Het
Senp5 A G 16: 31,808,702 (GRCm39) V157A probably damaging Het
Snapc3 T C 4: 83,353,495 (GRCm39) L178P probably damaging Het
Sptbn4 A G 7: 27,093,633 (GRCm39) F1340L probably damaging Het
Srd5a3 T A 5: 76,301,398 (GRCm39) I85K probably benign Het
Taar2 C T 10: 23,817,300 (GRCm39) T280M probably damaging Het
Tgfb3 T C 12: 86,116,237 (GRCm39) D177G probably benign Het
Tpt1 A G 14: 76,083,821 (GRCm39) D94G probably benign Het
Trpm4 A G 7: 44,954,240 (GRCm39) probably benign Het
Trpv4 C T 5: 114,763,171 (GRCm39) R746H probably benign Het
Txndc2 T C 17: 65,945,967 (GRCm39) D70G probably damaging Het
Ugcg T A 4: 59,219,530 (GRCm39) I289N possibly damaging Het
Vmn2r2 C G 3: 64,041,870 (GRCm39) D282H probably damaging Het
Vmn2r50 A T 7: 9,787,010 (GRCm39) N32K probably benign Het
Wdpcp C T 11: 21,671,244 (GRCm39) T495I probably benign Het
Zfp961 T A 8: 72,719,958 (GRCm39) C51S possibly damaging Het
Zxdc C T 6: 90,359,165 (GRCm39) A599V probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TGAGGCAGCATAGTACATGG -3'
(R):5'- TTGGAAAGTTCGCAAAGGGC -3'

Sequencing Primer
(F):5'- GCATAGTACATGGGCCCAC -3'
(R):5'- GGCAAGGCCTTACTGGAC -3'
Posted On 2018-08-29