Incidental Mutation 'IGL03106:Echdc1'
ID 418951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Echdc1
Ensembl Gene ENSMUSG00000019883
Gene Name enoyl Coenzyme A hydratase domain containing 1
Synonyms 1700028A24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # IGL03106
Quality Score
Status
Chromosome 10
Chromosomal Location 29189162-29223465 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29198276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 74 (M74L)
Ref Sequence ENSEMBL: ENSMUSP00000125553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020034] [ENSMUST00000160399] [ENSMUST00000161605]
AlphaFold Q9D9V3
Predicted Effect probably damaging
Transcript: ENSMUST00000020034
AA Change: M97L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883
AA Change: M97L

DomainStartEndE-ValueType
Pfam:ECH_1 74 307 4.8e-39 PFAM
Pfam:ECH_2 79 321 4.5e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160399
AA Change: M74L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125553
Gene: ENSMUSG00000019883
AA Change: M74L

DomainStartEndE-ValueType
Pfam:ECH 49 293 1.6e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161426
Predicted Effect probably damaging
Transcript: ENSMUST00000161605
AA Change: M74L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125048
Gene: ENSMUSG00000019883
AA Change: M74L

DomainStartEndE-ValueType
Pfam:ECH 49 165 4.4e-24 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 G T 8: 25,205,135 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,621,018 (GRCm39) N3911S probably benign Het
Alox12b C T 11: 69,059,702 (GRCm39) Q585* probably null Het
Amtn A G 5: 88,525,944 (GRCm39) Q36R probably benign Het
Arg2 G A 12: 79,196,665 (GRCm39) G129S probably damaging Het
Arhgef28 A C 13: 98,094,301 (GRCm39) Y948D probably damaging Het
Atp10b T C 11: 43,138,304 (GRCm39) V1195A probably benign Het
Bet1l G T 7: 140,434,523 (GRCm39) T42K probably benign Het
Cabin1 G A 10: 75,569,462 (GRCm39) T875I probably benign Het
Ccdc17 A G 4: 116,454,033 (GRCm39) probably null Het
Crebrf A G 17: 26,990,293 (GRCm39) E612G probably damaging Het
Cyp2c67 A T 19: 39,632,119 (GRCm39) M83K probably benign Het
Dgkz A G 2: 91,771,204 (GRCm39) S414P probably damaging Het
Dock10 G T 1: 80,546,551 (GRCm39) H411N probably damaging Het
Dpyd A T 3: 118,988,783 (GRCm39) T749S probably benign Het
Dsc1 C T 18: 20,219,701 (GRCm39) probably null Het
Edn1 C A 13: 42,458,499 (GRCm39) T104K possibly damaging Het
Fat2 T A 11: 55,202,727 (GRCm39) T116S probably benign Het
Fcrl5 A T 3: 87,343,190 (GRCm39) probably null Het
Fpgt C T 3: 154,792,759 (GRCm39) G423R probably damaging Het
Gprc5b A T 7: 118,583,416 (GRCm39) V151E probably damaging Het
Grm5 A G 7: 87,685,278 (GRCm39) Y465C probably damaging Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Ighmbp2 T C 19: 3,323,022 (GRCm39) K308R possibly damaging Het
Lrch1 A T 14: 75,073,202 (GRCm39) S146T possibly damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mterf3 T C 13: 67,078,221 (GRCm39) K16R probably damaging Het
Ncapg T A 5: 45,853,010 (GRCm39) H825Q probably damaging Het
Or2t1 G A 14: 14,328,851 (GRCm38) V247I probably damaging Het
Or2y1f T A 11: 49,184,988 (GRCm39) I280N probably damaging Het
Or4d5 A G 9: 40,012,030 (GRCm39) V252A probably damaging Het
Or5b95 G A 19: 12,658,287 (GRCm39) V272M possibly damaging Het
Or5t15 A C 2: 86,681,958 (GRCm39) L28R possibly damaging Het
Or5w15 A T 2: 87,568,462 (GRCm39) S69T probably benign Het
Pald1 A T 10: 61,182,884 (GRCm39) M355K probably benign Het
Phc1 A G 6: 122,300,428 (GRCm39) probably benign Het
Phkb T A 8: 86,745,095 (GRCm39) probably benign Het
Pkn3 G T 2: 29,975,257 (GRCm39) R506L probably damaging Het
Plod2 T C 9: 92,455,620 (GRCm39) Y100H probably damaging Het
Prl7b1 G T 13: 27,790,918 (GRCm39) Q56K probably benign Het
Rhot1 T A 11: 80,133,407 (GRCm39) C229* probably null Het
Sema3a G A 5: 13,649,456 (GRCm39) R735Q probably damaging Het
Slc18b1 A G 10: 23,702,557 (GRCm39) *460W probably null Het
Slco6c1 T A 1: 96,993,748 (GRCm39) probably benign Het
Slu7 T A 11: 43,333,457 (GRCm39) V359D possibly damaging Het
Suco T C 1: 161,662,049 (GRCm39) Y794C possibly damaging Het
Sult3a2 T C 10: 33,655,769 (GRCm39) N70S probably benign Het
Taar2 A T 10: 23,817,195 (GRCm39) D245V probably damaging Het
Taf1d A G 9: 15,221,237 (GRCm39) H181R possibly damaging Het
Tmem33 T C 5: 67,421,139 (GRCm39) S38P probably damaging Het
Traf3ip1 T C 1: 91,450,609 (GRCm39) S519P probably benign Het
Ttc12 T C 9: 49,369,362 (GRCm39) K253E possibly damaging Het
Other mutations in Echdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Echdc1 APN 10 29,193,616 (GRCm39) missense probably benign 0.01
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
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 2016-08-02