Incidental Mutation 'R5923:Echdc3'
ID461664
Institutional Source Beutler Lab
Gene Symbol Echdc3
Ensembl Gene ENSMUSG00000039063
Gene Nameenoyl Coenzyme A hydratase domain containing 3
Synonyms
MMRRC Submission 043241-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #R5923 (G1)
Quality Score175
Status Not validated
Chromosome2
Chromosomal Location6188465-6213033 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6189572 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 224 (V224A)
Ref Sequence ENSEMBL: ENSMUSP00000037371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042658]
Predicted Effect possibly damaging
Transcript: ENSMUST00000042658
AA Change: V224A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000037371
Gene: ENSMUSG00000039063
AA Change: V224A

DomainStartEndE-ValueType
low complexity region 32 45 N/A INTRINSIC
Pfam:ECH_1 51 300 1.2e-53 PFAM
Pfam:ECH_2 56 294 1.5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151782
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik T G 10: 120,778,770 probably benign Het
Abca9 A G 11: 110,160,552 V106A probably benign Het
Arnt2 G T 7: 84,262,533 T577K probably benign Het
Bod1l G A 5: 41,817,419 T2184I probably damaging Het
Brpf3 G A 17: 28,806,636 V228I possibly damaging Het
Cacna1d T C 14: 30,111,148 N890S probably damaging Het
Cacna1s T A 1: 136,076,822 M120K possibly damaging Het
Cdr2 A G 7: 120,982,001 Y18H probably damaging Het
Cilp2 A G 8: 69,882,875 F491S probably damaging Het
Cubn A T 2: 13,486,078 S185T possibly damaging Het
Dst T C 1: 34,181,759 S2215P probably benign Het
Hivep3 G T 4: 120,096,293 S602I possibly damaging Het
Itga2 T C 13: 114,884,519 S99G probably benign Het
Kat6a A G 8: 22,939,479 T1617A probably benign Het
Map1b T C 13: 99,433,153 E1020G unknown Het
Nbeal1 T C 1: 60,248,395 F933L probably damaging Het
Ntrk3 A T 7: 78,451,928 I419N possibly damaging Het
Nup188 A G 2: 30,304,090 I136V probably benign Het
Olfr885 T A 9: 38,061,858 D179E probably benign Het
Plcb4 A T 2: 135,961,814 K536* probably null Het
Polk A T 13: 96,495,415 I270N probably damaging Het
Prl6a1 A T 13: 27,316,363 M106L probably benign Het
Scap G T 9: 110,383,580 D1027Y probably damaging Het
Spg11 A T 2: 122,093,478 H787Q probably damaging Het
Tatdn3 T C 1: 191,049,310 D215G probably damaging Het
Tbcd G A 11: 121,580,152 C665Y probably benign Het
Tmc8 C T 11: 117,783,812 R118C probably damaging Het
Ttn T A 2: 76,812,557 H13245L probably damaging Het
Unc79 T C 12: 103,112,468 S1631P probably damaging Het
Vmn1r12 G A 6: 57,159,035 G39D probably benign Het
Vmn2r24 A G 6: 123,815,792 S693G probably damaging Het
Zc3h3 G T 15: 75,785,564 R593S probably damaging Het
Zfp598 T C 17: 24,677,549 L200P probably damaging Het
Other mutations in Echdc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Echdc3 APN 2 6195727 missense probably benign 0.20
R1241:Echdc3 UTSW 2 6212800 missense probably benign
R1508:Echdc3 UTSW 2 6206420 missense probably benign 0.00
R1606:Echdc3 UTSW 2 6195627 missense possibly damaging 0.83
R7144:Echdc3 UTSW 2 6206413 critical splice donor site probably null
R7493:Echdc3 UTSW 2 6189557 missense probably damaging 1.00
R7678:Echdc3 UTSW 2 6212876 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GTGACCAGATGGGCTTTCTC -3'
(R):5'- TGCAAGTCTAGAGAGTGACTGTC -3'

Sequencing Primer
(F):5'- TCTGGATGAAGGCTTCAATTCC -3'
(R):5'- AGTCTAGAGAGTGACTGTCTCAGTAC -3'
Posted On2017-02-28