Incidental Mutation 'R5111:Echdc2'
ID393846
Institutional Source Beutler Lab
Gene Symbol Echdc2
Ensembl Gene ENSMUSG00000028601
Gene Nameenoyl Coenzyme A hydratase domain containing 2
Synonyms1300017C12Rik, 2610009M20Rik
MMRRC Submission 042699-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock #R5111 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location108165437-108179308 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 108169797 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000052999] [ENSMUST00000116307] [ENSMUST00000116309] [ENSMUST00000125647] [ENSMUST00000126900] [ENSMUST00000130942]
Predicted Effect probably benign
Transcript: ENSMUST00000052999
SMART Domains Protein: ENSMUSP00000051268
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
Pfam:ECH_1 41 296 1.1e-60 PFAM
Pfam:ECH_2 46 225 5.1e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106691
SMART Domains Protein: ENSMUSP00000102302
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
Pfam:ECH_1 1 119 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116307
SMART Domains Protein: ENSMUSP00000112009
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
Pfam:ECH 39 131 6.7e-17 PFAM
Pfam:ECH 124 257 5.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116309
SMART Domains Protein: ENSMUSP00000112011
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
Pfam:ECH 39 288 3.2e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123280
Predicted Effect probably benign
Transcript: ENSMUST00000125647
SMART Domains Protein: ENSMUSP00000123913
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
low complexity region 45 62 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127392
Predicted Effect probably benign
Transcript: ENSMUST00000130942
SMART Domains Protein: ENSMUSP00000124746
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
Pfam:ECH 39 103 8.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133049
Predicted Effect probably benign
Transcript: ENSMUST00000135718
SMART Domains Protein: ENSMUSP00000114371
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
Pfam:ECH_1 1 74 9.6e-16 PFAM
Pfam:ECH_2 2 74 1.1e-11 PFAM
Pfam:ECH_1 69 184 2.8e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150487
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c A T 7: 84,151,438 L136* probably null Het
Ankrd17 A T 5: 90,242,999 S2271T possibly damaging Het
Arhgef10 A G 8: 14,932,408 D179G probably benign Het
Bcan G T 3: 87,994,207 S396Y probably damaging Het
Btbd3 T A 2: 138,278,909 M1K probably null Het
Capns1 A G 7: 30,192,519 V106A probably benign Het
Ccnjl A G 11: 43,556,717 T76A probably benign Het
Cdc23 C A 18: 34,651,689 V7L unknown Het
Col6a6 C T 9: 105,709,474 V1783I possibly damaging Het
Crisp3 T C 17: 40,225,804 T207A possibly damaging Het
Crxos G A 7: 15,896,217 probably benign Het
Csf3r T C 4: 126,030,068 probably null Het
Cyp2a12 A G 7: 27,036,621 Y485C possibly damaging Het
Elp3 A C 14: 65,560,236 Y329D probably damaging Het
Fbxw16 T C 9: 109,436,728 D341G probably benign Het
H2-Ab1 T A 17: 34,267,482 S172T probably damaging Het
Hyal2 T C 9: 107,571,111 V321A probably benign Het
Ighv6-3 A T 12: 114,391,774 S98R probably benign Het
Kank3 A G 17: 33,818,181 E153G possibly damaging Het
Klrb1c C T 6: 128,786,005 R83H probably benign Het
Krtap16-1 T C 11: 99,986,552 K9E possibly damaging Het
Liph G A 16: 21,984,070 S83F probably damaging Het
Lnpep A G 17: 17,578,610 I261T possibly damaging Het
Mdm2 A T 10: 117,691,221 V273D possibly damaging Het
Mterf1a A G 5: 3,891,860 S3P probably benign Het
Myt1 A G 2: 181,795,885 T172A probably benign Het
Nufip2 T A 11: 77,691,843 S194R probably benign Het
Nusap1 T A 2: 119,630,356 L110* probably null Het
Palb2 A T 7: 122,117,305 C488* probably null Het
Pcdhac1 A T 18: 37,091,505 N457I probably damaging Het
Per1 A T 11: 69,100,786 S49C probably damaging Het
Ppargc1b A T 18: 61,310,487 I535N probably damaging Het
Rb1cc1 T C 1: 6,214,634 probably benign Het
Rpap1 A T 2: 119,771,247 L744Q probably damaging Het
Sdk1 A G 5: 142,127,845 E1549G probably damaging Het
Tnr C T 1: 159,886,228 T742I probably benign Het
Trp53bp1 A T 2: 121,211,387 H1229Q probably damaging Het
Unc80 A G 1: 66,527,995 H920R possibly damaging Het
Urb1 A C 16: 90,752,017 S2268A probably benign Het
Usp32 A T 11: 85,077,331 Y169N possibly damaging Het
Vmn2r18 A T 5: 151,562,448 M527K possibly damaging Het
Vmn2r93 A T 17: 18,326,064 I733F probably damaging Het
Vstm2l A G 2: 157,935,469 D89G probably damaging Het
Zdhhc8 G T 16: 18,226,748 Q303K probably benign Het
Zfand2a A G 5: 139,473,754 V159A probably benign Het
Zswim6 A G 13: 107,728,635 noncoding transcript Het
Other mutations in Echdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Echdc2 APN 4 108178911 missense probably damaging 1.00
IGL03122:Echdc2 APN 4 108165580 missense probably benign 0.00
IGL03201:Echdc2 APN 4 108169870 missense possibly damaging 0.87
R1579:Echdc2 UTSW 4 108173809 missense probably benign 0.01
R1836:Echdc2 UTSW 4 108165535 missense probably damaging 0.99
R4994:Echdc2 UTSW 4 108165628 missense probably benign 0.21
R5010:Echdc2 UTSW 4 108172131 missense probably benign 0.00
R5880:Echdc2 UTSW 4 108172900 missense possibly damaging 0.87
R7175:Echdc2 UTSW 4 108174169 missense probably damaging 1.00
R7699:Echdc2 UTSW 4 108174077 missense probably benign
R7700:Echdc2 UTSW 4 108174077 missense probably benign
R8301:Echdc2 UTSW 4 108172909 missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTGGCTTGCTGCAGCTTAC -3'
(R):5'- TAAGGCATTCCAGTCCCTGAAG -3'

Sequencing Primer
(F):5'- GCTGCAGCTTACATGCCC -3'
(R):5'- CATTCCAGTCCCTGAAGAGGAG -3'
Posted On2016-06-15