Incidental Mutation 'R1175:Eci2'
ID99994
Institutional Source Beutler Lab
Gene Symbol Eci2
Ensembl Gene ENSMUSG00000021417
Gene Nameenoyl-Coenzyme A delta isomerase 2
SynonymsDRS1, HCA88, ACBD2, Peci
MMRRC Submission 039248-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.153) question?
Stock #R1175 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location34977748-35027096 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 34993104 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 24 (N24K)
Ref Sequence ENSEMBL: ENSMUSP00000130076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021854] [ENSMUST00000110251] [ENSMUST00000163280] [ENSMUST00000167036] [ENSMUST00000169759] [ENSMUST00000170538] [ENSMUST00000170989] [ENSMUST00000171229] [ENSMUST00000171258] [ENSMUST00000178421]
Predicted Effect probably damaging
Transcript: ENSMUST00000021854
AA Change: N24K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021854
Gene: ENSMUSG00000021417
AA Change: N24K

DomainStartEndE-ValueType
Pfam:ACBP 4 88 2.2e-33 PFAM
Pfam:ECH 108 354 1.4e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000084345
Predicted Effect probably damaging
Transcript: ENSMUST00000110251
AA Change: N44K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105880
Gene: ENSMUSG00000021417
AA Change: N44K

DomainStartEndE-ValueType
Pfam:ACBP 24 108 1.7e-33 PFAM
Pfam:ECH 128 374 1.2e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130003
Predicted Effect possibly damaging
Transcript: ENSMUST00000163280
AA Change: N24K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126500
Gene: ENSMUSG00000021417
AA Change: N24K

DomainStartEndE-ValueType
Pfam:ACBP 4 88 8e-34 PFAM
Pfam:ECH 108 213 1.6e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166109
Predicted Effect probably damaging
Transcript: ENSMUST00000167036
AA Change: N24K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130076
Gene: ENSMUSG00000021417
AA Change: N24K

DomainStartEndE-ValueType
Pfam:ACBP 4 88 6.6e-34 PFAM
Pfam:ECH 108 191 2.2e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169759
AA Change: N24K

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130283
Gene: ENSMUSG00000021417
AA Change: N24K

DomainStartEndE-ValueType
Pfam:ACBP 4 88 1.7e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170538
AA Change: N24K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129428
Gene: ENSMUSG00000021417
AA Change: N24K

DomainStartEndE-ValueType
Pfam:ACBP 4 88 9.1e-34 PFAM
Pfam:ECH 108 228 1.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170989
AA Change: N24K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129477
Gene: ENSMUSG00000021417
AA Change: N24K

DomainStartEndE-ValueType
Pfam:ACBP 4 88 6.9e-34 PFAM
Pfam:ECH 108 202 1.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171079
Predicted Effect probably damaging
Transcript: ENSMUST00000171229
AA Change: N57K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131735
Gene: ENSMUSG00000021417
AA Change: N57K

DomainStartEndE-ValueType
Pfam:ACBP 38 118 3e-32 PFAM
Pfam:ECH_1 143 390 3.8e-42 PFAM
Pfam:ECH_2 148 389 6e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171258
AA Change: N24K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129164
Gene: ENSMUSG00000021417
AA Change: N24K

DomainStartEndE-ValueType
Pfam:ACBP 4 88 4.5e-34 PFAM
Pfam:ECH 108 170 2e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178421
AA Change: N24K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137411
Gene: ENSMUSG00000021417
AA Change: N24K

DomainStartEndE-ValueType
Pfam:ACBP 4 88 2.2e-33 PFAM
Pfam:ECH 108 354 1.4e-42 PFAM
Meta Mutation Damage Score 0.7857 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 88.0%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 17,117,582 H214L probably benign Het
3110043O21Rik C A 4: 35,218,630 E76D probably damaging Het
4921507P07Rik T A 6: 50,589,141 K118M probably damaging Het
A430078G23Rik T A 8: 3,389,023 probably benign Het
Abca17 T C 17: 24,289,351 E1070G possibly damaging Het
Accsl A T 2: 93,866,244 probably benign Het
Akp3 G A 1: 87,127,871 G547R unknown Het
Anapc1 C A 2: 128,680,188 C150F probably damaging Het
Borcs5 T A 6: 134,710,133 N150K probably damaging Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Cntnap5c C A 17: 58,364,246 T1143K possibly damaging Het
Col7a1 A C 9: 108,955,334 T137P unknown Het
Defb8 C T 8: 19,445,894 G50E probably damaging Het
Dimt1 T A 13: 106,949,685 probably benign Het
Dnajb11 T A 16: 22,870,673 D281E probably damaging Het
Fbn1 A T 2: 125,394,687 C358S probably benign Het
Fbxl13 A T 5: 21,620,604 probably benign Het
Fbxw11 T C 11: 32,711,922 C121R probably damaging Het
Fsd2 T C 7: 81,559,770 D108G probably benign Het
Gab1 C A 8: 80,784,842 R458L probably damaging Het
Ghrhr T A 6: 55,388,269 L416* probably null Het
Glipr1l2 C A 10: 112,083,466 L31I possibly damaging Het
Gm1818 A G 12: 48,556,199 noncoding transcript Het
Gm19965 T A 1: 116,820,820 probably benign Het
Gpr149 A G 3: 62,604,467 L37P probably damaging Het
Hoxa9 A G 6: 52,225,713 I131T probably damaging Het
Itpkc T C 7: 27,227,770 I240V probably benign Het
Jakmip3 A G 7: 139,027,786 D552G probably damaging Het
Kank4 T C 4: 98,765,569 Y874C probably damaging Het
Kdm3a T C 6: 71,600,027 E768G possibly damaging Het
Klf6 A G 13: 5,861,712 D25G probably benign Het
Lamc1 T C 1: 153,247,231 probably benign Het
Laptm4a T C 12: 8,936,716 V258A probably damaging Het
Map3k19 A G 1: 127,823,880 V578A probably benign Het
Mast1 T C 8: 84,925,327 E342G probably benign Het
Mgat5b T C 11: 116,977,796 L515P probably damaging Het
Mink1 A G 11: 70,611,340 D985G probably benign Het
Mphosph9 A G 5: 124,315,676 V191A possibly damaging Het
Muc6 C T 7: 141,648,101 G708S probably damaging Het
Papd5 T A 8: 88,252,007 F445L probably damaging Het
Pcnt A T 10: 76,393,044 probably null Het
Psmd8 A T 7: 29,176,173 Y174N probably damaging Het
Ptgdr2 C A 19: 10,940,928 R270S possibly damaging Het
Rasal2 A G 1: 157,147,648 M1172T probably damaging Het
Rif1 A G 2: 52,107,628 probably benign Het
Rnf123 C T 9: 108,077,373 R48H probably benign Het
Rsrc1 T C 3: 67,356,218 probably benign Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Serpinb9d C T 13: 33,200,625 P195L probably benign Het
Sis A G 3: 72,958,104 probably benign Het
Skint4 T C 4: 112,124,596 M246T probably benign Het
Snrnp200 C A 2: 127,229,077 R1093S probably damaging Het
Sp100 A G 1: 85,701,420 N471D possibly damaging Het
Ssxb8 T G X: 8,689,823 H88P probably damaging Het
Sufu T C 19: 46,401,264 probably null Het
Svs1 C A 6: 48,990,239 P707H probably damaging Het
Synpo2l G A 14: 20,668,167 T10I possibly damaging Het
Tdo2 A T 3: 81,974,376 S40R probably damaging Het
Terb1 G A 8: 104,484,306 T363I probably benign Het
Timd4 C T 11: 46,817,671 P175S probably damaging Het
Tlr3 C A 8: 45,397,134 V833L probably damaging Het
Tpst2 T A 5: 112,308,045 M150K probably damaging Het
Trim67 T A 8: 124,817,035 V378E probably damaging Het
Tyrp1 C T 4: 80,844,868 Q331* probably null Het
Ubap2l A T 3: 90,023,500 S413T probably benign Het
Uimc1 G A 13: 55,028,602 T701I possibly damaging Het
Vangl2 G T 1: 172,004,786 T501N probably damaging Het
Vmn1r60 A G 7: 5,544,622 S160P probably benign Het
Vmn2r66 G T 7: 85,005,591 D503E probably benign Het
Vmn2r72 T A 7: 85,751,944 E89V probably damaging Het
Zfp457 G A 13: 67,293,684 P180S probably damaging Het
Other mutations in Eci2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Eci2 APN 13 34990329 nonsense probably null
IGL02057:Eci2 APN 13 34990776 missense probably damaging 1.00
IGL02141:Eci2 APN 13 34978673 missense probably benign 0.00
IGL03149:Eci2 APN 13 34988313 missense probably benign 0.41
BB001:Eci2 UTSW 13 34993070 nonsense probably null
BB011:Eci2 UTSW 13 34993070 nonsense probably null
R1488:Eci2 UTSW 13 34977933 missense probably benign 0.00
R2110:Eci2 UTSW 13 34990716 critical splice donor site probably null
R2111:Eci2 UTSW 13 34990716 critical splice donor site probably null
R3704:Eci2 UTSW 13 34993233 splice site probably benign
R5342:Eci2 UTSW 13 34978724 missense probably benign 0.31
R5701:Eci2 UTSW 13 34990267 missense possibly damaging 0.89
R6027:Eci2 UTSW 13 34985947 splice site probably null
R6218:Eci2 UTSW 13 34993065 splice site probably null
R6246:Eci2 UTSW 13 34990198 missense probably damaging 1.00
R6357:Eci2 UTSW 13 34993099 missense possibly damaging 0.87
R7924:Eci2 UTSW 13 34993070 nonsense probably null
R8410:Eci2 UTSW 13 34978035 missense probably benign
Predicted Primers
Posted On2014-01-15