Incidental Mutation 'R0016:Echdc1'
ID 8284
Institutional Source Beutler Lab
Gene Symbol Echdc1
Ensembl Gene ENSMUSG00000019883
Gene Name enoyl Coenzyme A hydratase domain containing 1
Synonyms 1700028A24Rik
MMRRC Submission 038311-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R0016 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 29189162-29223465 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 29198417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020034] [ENSMUST00000160399] [ENSMUST00000161605]
AlphaFold Q9D9V3
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: 71,333,959 (GRCm39) V1181G probably benign Het
Adamts12 A T 15: 11,217,915 (GRCm39) I291F probably damaging Het
Aspm G C 1: 139,407,282 (GRCm39) Q2056H probably benign Het
C7 A T 15: 5,076,406 (GRCm39) V122E probably benign Het
Casp12 A T 9: 5,352,844 (GRCm39) Q152L probably null Het
Cpne8 A G 15: 90,385,608 (GRCm39) probably benign Het
Cspg4b T C 13: 113,502,639 (GRCm39) Y115H probably damaging Het
Cyp2j7 T A 4: 96,090,384 (GRCm39) I347F probably damaging Het
Dync2h1 A G 9: 7,144,346 (GRCm39) probably benign Het
Elovl3 T A 19: 46,120,597 (GRCm39) F30Y probably damaging Het
Fgd3 C T 13: 49,450,085 (GRCm39) D55N probably benign Het
Fhod1 T C 8: 106,058,287 (GRCm39) E823G possibly damaging Het
Gapvd1 A G 2: 34,589,925 (GRCm39) probably benign Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Kif27 A G 13: 58,502,528 (GRCm39) V50A probably damaging Het
Lrp2bp T A 8: 46,465,068 (GRCm39) F62L probably damaging Het
Marf1 G A 16: 13,970,129 (GRCm39) H197Y probably damaging Het
Mon2 C T 10: 122,871,451 (GRCm39) V389M probably damaging Het
Myh8 A G 11: 67,189,351 (GRCm39) K1176E probably damaging Het
Nckap1l A G 15: 103,384,063 (GRCm39) T554A probably benign Het
Oog3 A G 4: 143,884,641 (GRCm39) Y432H probably damaging Het
Sorbs1 A G 19: 40,303,182 (GRCm39) probably benign Het
Srgap2 A G 1: 131,277,200 (GRCm39) M349T possibly damaging Het
Stc2 A T 11: 31,310,177 (GRCm39) D286E probably benign Het
Stk31 T C 6: 49,414,311 (GRCm39) Y482H probably damaging Het
Sycp2l A G 13: 41,310,976 (GRCm39) probably benign Het
Tasor2 A C 13: 3,635,170 (GRCm39) probably null Het
Trgv5 G A 13: 19,376,889 (GRCm39) W112* probably null Het
Trim27 A T 13: 21,375,399 (GRCm39) E310V probably benign Het
Uvrag T C 7: 98,641,188 (GRCm39) K284R probably benign Het
Xylt2 A G 11: 94,560,466 (GRCm39) S270P probably damaging Het
Zwint T C 10: 72,493,030 (GRCm39) probably benign Het
Other mutations in Echdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Echdc1 APN 10 29,193,616 (GRCm39) missense probably benign 0.01
IGL03106:Echdc1 APN 10 29,198,276 (GRCm39) missense probably damaging 1.00
IGL03185:Echdc1 APN 10 29,207,836 (GRCm39) missense possibly damaging 0.91
R0016:Echdc1 UTSW 10 29,198,417 (GRCm39) splice site probably benign
R1325:Echdc1 UTSW 10 29,193,544 (GRCm39) missense probably benign 0.05
R1850:Echdc1 UTSW 10 29,220,599 (GRCm39) missense probably damaging 1.00
R3151:Echdc1 UTSW 10 29,198,360 (GRCm39) missense possibly damaging 0.79
R4540:Echdc1 UTSW 10 29,220,578 (GRCm39) missense probably benign 0.00
R5310:Echdc1 UTSW 10 29,210,204 (GRCm39) missense possibly damaging 0.87
R6356:Echdc1 UTSW 10 29,220,522 (GRCm39) splice site probably null
R6569:Echdc1 UTSW 10 29,198,280 (GRCm39) missense probably damaging 1.00
R6606:Echdc1 UTSW 10 29,189,711 (GRCm39) missense probably benign
R8439:Echdc1 UTSW 10 29,210,242 (GRCm39) missense probably damaging 1.00
R9007:Echdc1 UTSW 10 29,220,426 (GRCm39) missense probably damaging 0.99
Posted On 2012-11-21