Incidental Mutation 'R6606:Echdc1'
ID 525697
Institutional Source Beutler Lab
Gene Symbol Echdc1
Ensembl Gene ENSMUSG00000019883
Gene Name enoyl Coenzyme A hydratase domain containing 1
Synonyms 1700028A24Rik
MMRRC Submission 044729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R6606 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 29189162-29223465 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29189711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 17 (I17V)
Ref Sequence ENSEMBL: ENSMUSP00000020034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020034] [ENSMUST00000160399] [ENSMUST00000161605]
AlphaFold Q9D9V3
Predicted Effect probably benign
Transcript: ENSMUST00000020034
AA Change: I17V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883
AA Change: I17V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215520
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adal A G 2: 120,980,769 (GRCm39) E21G probably damaging Het
Ankk1 T C 9: 49,327,646 (GRCm39) Y511C probably benign Het
Atn1 G A 6: 124,721,919 (GRCm39) probably benign Het
Ccnt2 C A 1: 127,730,978 (GRCm39) S618R probably benign Het
Ces4a A G 8: 105,876,010 (GRCm39) N517S possibly damaging Het
Chd4 C A 6: 125,086,389 (GRCm39) T963K probably damaging Het
Crlf1 A G 8: 70,953,824 (GRCm39) Y310C probably damaging Het
Cyyr1 A G 16: 85,254,438 (GRCm39) Y155H probably benign Het
Dnah3 A T 7: 119,660,179 (GRCm39) I831N probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Ephx4 G T 5: 107,560,931 (GRCm39) V28F probably damaging Het
Erich6 A G 3: 58,523,921 (GRCm39) I651T probably damaging Het
Fbln7 A G 2: 128,719,296 (GRCm39) Q31R possibly damaging Het
Fbxl17 A G 17: 63,794,783 (GRCm39) V433A probably damaging Het
Gm20449 T C 7: 41,108,253 (GRCm39) E39G unknown Het
Gprc5b G A 7: 118,583,296 (GRCm39) P191L probably benign Het
Klhl1 T C 14: 96,360,658 (GRCm39) T731A possibly damaging Het
Myo3b A G 2: 70,062,829 (GRCm39) D371G possibly damaging Het
Or10n1 G A 9: 39,525,378 (GRCm39) V172M probably damaging Het
P4ha3 G T 7: 99,954,851 (GRCm39) C303F probably damaging Het
Parp10 C A 15: 76,124,308 (GRCm39) V782L possibly damaging Het
Prpf40a A G 2: 53,041,763 (GRCm39) S501P probably damaging Het
Ptpn3 A T 4: 57,265,104 (GRCm39) probably null Het
Ptprz1 A C 6: 23,002,500 (GRCm39) H1530P probably benign Het
Rasa4 A G 5: 136,132,801 (GRCm39) K18E probably damaging Het
Rit1 A G 3: 88,624,945 (GRCm39) E48G probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rspo3 C T 10: 29,330,277 (GRCm39) R228K unknown Het
Scai A T 2: 38,965,147 (GRCm39) S566T probably benign Het
Scn4a T C 11: 106,218,899 (GRCm39) E973G probably benign Het
Slc15a3 T A 19: 10,826,046 (GRCm39) F246I possibly damaging Het
Stfa3 T C 16: 36,275,647 (GRCm39) D27G possibly damaging Het
Uba5 T C 9: 103,932,420 (GRCm39) D181G probably damaging Het
Urb1 T C 16: 90,607,156 (GRCm39) T25A probably benign Het
Zbtb43 G T 2: 33,345,066 (GRCm39) S16Y probably damaging Het
Zyg11b G A 4: 108,093,286 (GRCm39) A717V 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCTTCAGCTAACTCAGGAGC -3'
(R):5'- TCCTTAGTGAGGTGTTCATAACTCC -3'

Sequencing Primer
(F):5'- TTTGCGGGCCAATGCAGAG -3'
(R):5'- CCTTGAGATTTGATAAAAGTGGAGAC -3'
Posted On 2018-06-22