Incidental Mutation 'IGL03185:Echdc1'
ID 412421
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 # IGL03185
Quality Score
Status
Chromosome 10
Chromosomal Location 29189162-29223465 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29207836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 127 (F127I)
Ref Sequence ENSEMBL: ENSMUSP00000125553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020034] [ENSMUST00000160399] [ENSMUST00000161605]
AlphaFold Q9D9V3
Predicted Effect possibly damaging
Transcript: ENSMUST00000020034
AA Change: F150I

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883
AA Change: F150I

DomainStartEndE-ValueType
Pfam:ECH_1 74 307 4.8e-39 PFAM
Pfam:ECH_2 79 321 4.5e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160399
AA Change: F127I

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125553
Gene: ENSMUSG00000019883
AA Change: F127I

DomainStartEndE-ValueType
Pfam:ECH 49 293 1.6e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161426
Predicted Effect possibly damaging
Transcript: ENSMUST00000161605
AA Change: F127I

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125048
Gene: ENSMUSG00000019883
AA Change: F127I

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,255,212 (GRCm39) D77G probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Babam2 T C 5: 31,859,376 (GRCm39) I27T possibly damaging Het
Ccdc150 A G 1: 54,339,482 (GRCm39) E442G probably damaging Het
Ccdc92 A G 5: 124,913,014 (GRCm39) Y172H probably damaging Het
Chl1 T A 6: 103,642,824 (GRCm39) D187E probably damaging Het
Col6a4 A T 9: 105,896,653 (GRCm39) F1721I probably damaging Het
Corin C T 5: 72,490,124 (GRCm39) G542D probably damaging Het
Dennd1c C T 17: 57,373,803 (GRCm39) D587N probably benign Het
Dnah10 A G 5: 124,894,707 (GRCm39) Y3424C probably damaging Het
F13b T A 1: 139,444,124 (GRCm39) V486E probably benign Het
Fkbp15 C T 4: 62,250,423 (GRCm39) probably null Het
Glt8d2 T A 10: 82,498,110 (GRCm39) I100F probably damaging Het
Gmip C T 8: 70,262,433 (GRCm39) P10L probably benign Het
Grm7 T C 6: 110,623,183 (GRCm39) S119P possibly damaging Het
Klf4 T C 4: 55,530,911 (GRCm39) T58A possibly damaging Het
Mink1 T C 11: 70,494,686 (GRCm39) I289T probably damaging Het
Mptx2 A T 1: 173,102,356 (GRCm39) V111D possibly damaging Het
Muc5b A T 7: 141,416,559 (GRCm39) E3168D possibly damaging Het
Mylk3 C A 8: 86,053,833 (GRCm39) V695F probably damaging Het
Or11j4 C A 14: 50,630,855 (GRCm39) T214K probably damaging Het
Or7g21 T A 9: 19,033,034 (GRCm39) V258E probably damaging Het
Pcare A T 17: 72,056,332 (GRCm39) I1115K probably damaging Het
Pira13 A G 7: 3,826,229 (GRCm39) Y255H probably damaging Het
Poglut2 G A 1: 44,156,359 (GRCm39) S76L probably benign Het
Pprc1 C A 19: 46,058,186 (GRCm39) probably benign Het
Prkaa2 C T 4: 104,896,918 (GRCm39) probably null Het
Prss50 A G 9: 110,687,279 (GRCm39) Y74C probably benign Het
Rnf145 T C 11: 44,422,157 (GRCm39) L80P probably damaging Het
Serpinb3b T C 1: 107,084,662 (GRCm39) I120V probably benign Het
Sgca T C 11: 94,861,610 (GRCm39) M212V probably benign Het
Slc1a6 T A 10: 78,637,741 (GRCm39) D422E probably damaging Het
Slc30a9 A G 5: 67,490,406 (GRCm39) R226G probably benign Het
Slc5a11 A G 7: 122,864,412 (GRCm39) D336G possibly damaging Het
Slfn8 T C 11: 82,908,333 (GRCm39) H70R probably benign Het
Stoml2 T C 4: 43,029,065 (GRCm39) N269S probably benign Het
Synrg A G 11: 83,872,305 (GRCm39) E142G probably damaging Het
Thbs2 G A 17: 14,901,672 (GRCm39) Q436* probably null Het
Tyk2 T C 9: 21,020,680 (GRCm39) N917S probably damaging Het
Zfhx4 C A 3: 5,468,974 (GRCm39) T3069K probably benign Het
Zfp446 G T 7: 12,712,925 (GRCm39) V88F probably null Het
Zp3 A G 5: 136,011,575 (GRCm39) N131S possibly damaging 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
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