Incidental Mutation 'R0016:Echdc1'
ID8284
Institutional Source Beutler Lab
Gene Symbol Echdc1
Ensembl Gene ENSMUSG00000019883
Gene Nameenoyl Coenzyme A hydratase domain containing 1
Synonyms1700028A24Rik
MMRRC Submission 038311-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.289) question?
Stock #R0016 (G1)
Quality Score
Status Validated
Chromosome10
Chromosomal Location29313166-29347469 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 29322421 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020034] [ENSMUST00000160399] [ENSMUST00000161605]
Predicted Effect probably benign
Transcript: ENSMUST00000020034
SMART Domains Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883

DomainStartEndE-ValueType
Pfam:ECH_1 74 307 4.8e-39 PFAM
Pfam:ECH_2 79 321 4.5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160399
SMART Domains Protein: ENSMUSP00000125553
Gene: ENSMUSG00000019883

DomainStartEndE-ValueType
Pfam:ECH 49 293 1.6e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161426
Predicted Effect probably benign
Transcript: ENSMUST00000161605
SMART Domains Protein: ENSMUSP00000125048
Gene: ENSMUSG00000019883

DomainStartEndE-ValueType
Pfam:ECH 49 165 4.4e-24 PFAM
Coding Region Coverage
  • 1x: 81.7%
  • 3x: 74.6%
  • 10x: 53.6%
  • 20x: 32.4%
Validation Efficiency 93% (85/91)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,294,800 V1181G probably benign Het
Adamts12 A T 15: 11,217,829 I291F probably damaging Het
Aspm G C 1: 139,479,544 Q2056H probably benign Het
BC067074 T C 13: 113,366,105 Y115H probably damaging Het
C7 A T 15: 5,046,924 V122E probably benign Het
Casp12 A T 9: 5,352,844 Q152L probably null Het
Cpne8 A G 15: 90,501,405 probably benign Het
Cyp2j7 T A 4: 96,202,147 I347F probably damaging Het
Dync2h1 A G 9: 7,144,346 probably benign Het
Elovl3 T A 19: 46,132,158 F30Y probably damaging Het
Fam208b A C 13: 3,585,170 probably null Het
Fgd3 C T 13: 49,296,609 D55N probably benign Het
Fhod1 T C 8: 105,331,655 E823G possibly damaging Het
Gapvd1 A G 2: 34,699,913 probably benign Het
Helz2 C A 2: 181,232,759 G1981C probably damaging Het
Kif27 A G 13: 58,354,714 V50A probably damaging Het
Lrp2bp T A 8: 46,012,031 F62L probably damaging Het
Marf1 G A 16: 14,152,265 H197Y probably damaging Het
Mon2 C T 10: 123,035,546 V389M probably damaging Het
Myh8 A G 11: 67,298,525 K1176E probably damaging Het
Nckap1l A G 15: 103,475,636 T554A probably benign Het
Oog3 A G 4: 144,158,071 Y432H probably damaging Het
Sorbs1 A G 19: 40,314,738 probably benign Het
Srgap2 A G 1: 131,349,462 M349T possibly damaging Het
Stc2 A T 11: 31,360,177 D286E probably benign Het
Stk31 T C 6: 49,437,377 Y482H probably damaging Het
Sycp2l A G 13: 41,157,500 probably benign Het
Tcrg-V5 G A 13: 19,192,719 W112* probably null Het
Trim27 A T 13: 21,191,229 E310V probably benign Het
Uvrag T C 7: 98,991,981 K284R probably benign Het
Xylt2 A G 11: 94,669,640 S270P probably damaging Het
Zwint T C 10: 72,657,198 probably benign Het
Other mutations in Echdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Echdc1 APN 10 29317620 missense probably benign 0.01
IGL03106:Echdc1 APN 10 29322280 missense probably damaging 1.00
IGL03185:Echdc1 APN 10 29331840 missense possibly damaging 0.91
R0016:Echdc1 UTSW 10 29322421 splice site probably benign
R1325:Echdc1 UTSW 10 29317548 missense probably benign 0.05
R1850:Echdc1 UTSW 10 29344603 missense probably damaging 1.00
R3151:Echdc1 UTSW 10 29322364 missense possibly damaging 0.79
R4540:Echdc1 UTSW 10 29344582 missense probably benign 0.00
R5310:Echdc1 UTSW 10 29334208 missense possibly damaging 0.87
R6356:Echdc1 UTSW 10 29344526 splice site probably null
R6569:Echdc1 UTSW 10 29322284 missense probably damaging 1.00
R6606:Echdc1 UTSW 10 29313715 missense probably benign
R8439:Echdc1 UTSW 10 29334246 missense probably damaging 1.00
Posted On2012-11-21