Mutagenetix > Incidental Mutation

Incidental Mutation 'R1175:Eci2'

99994

Institutional Source

Beutler Lab

Gene Symbol

Eci2

Ensembl Gene

ENSMUSG00000021417

Gene Name

enoyl-Coenzyme A delta isomerase 2

Synonyms

Peci, ACBD2, DRS1, HCA88

MMRRC Submission

039248-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R1175 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35161731-35211079 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35177087 bp (GRCm39)

Zygosity

Heterozygous

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] [ENSMUST00000171229] [ENSMUST00000169759] [ENSMUST00000171258] [ENSMUST00000170989] [ENSMUST00000170538] [ENSMUST00000167036] [ENSMUST00000178421]

AlphaFold

Q9WUR2

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000171229
AA Change: N57K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131735
Gene: ENSMUSG00000021417
AA Change: N57K

Domain	Start	End	E-Value	Type
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

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

Domain	Start	End	E-Value	Type
Pfam:ACBP	4	88	1.7e-34	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

Domain	Start	End	E-Value	Type
Pfam:ACBP	4	88	4.5e-34	PFAM
Pfam:ECH	108	170	2e-12	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

Domain	Start	End	E-Value	Type
Pfam:ACBP	4	88	6.9e-34	PFAM
Pfam:ECH	108	202	1.2e-13	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

Domain	Start	End	E-Value	Type
Pfam:ACBP	4	88	9.1e-34	PFAM
Pfam:ECH	108	228	1.2e-18	PFAM

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

Domain	Start	End	E-Value	Type
Pfam:ACBP	4	88	6.6e-34	PFAM
Pfam:ECH	108	191	2.2e-13	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

Domain	Start	End	E-Value	Type
Pfam:ACBP	4	88	2.2e-33	PFAM
Pfam:ECH	108	354	1.4e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171079

Meta Mutation Damage Score

0.7857

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	T	A	16: 16,935,446 (GRCm39)	H214L	probably benign	Het
Abca17	T	C	17: 24,508,325 (GRCm39)	E1070G	possibly damaging	Het
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Anapc1	C	A	2: 128,522,108 (GRCm39)	C150F	probably damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Arhgef18	T	A	8: 3,439,023 (GRCm39)		probably benign	Het
Borcs5	T	A	6: 134,687,096 (GRCm39)	N150K	probably damaging	Het
C9orf72	C	A	4: 35,218,630 (GRCm39)	E76D	probably damaging	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cntnap5c	C	A	17: 58,671,241 (GRCm39)	T1143K	possibly damaging	Het
Col7a1	A	C	9: 108,784,402 (GRCm39)	T137P	unknown	Het
Defb8	C	T	8: 19,495,910 (GRCm39)	G50E	probably damaging	Het
Dimt1	T	A	13: 107,086,193 (GRCm39)		probably benign	Het
Dnajb11	T	A	16: 22,689,423 (GRCm39)	D281E	probably damaging	Het
Fbn1	A	T	2: 125,236,607 (GRCm39)	C358S	probably benign	Het
Fbxl13	A	T	5: 21,825,602 (GRCm39)		probably benign	Het
Fbxw11	T	C	11: 32,661,922 (GRCm39)	C121R	probably damaging	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gab1	C	A	8: 81,511,471 (GRCm39)	R458L	probably damaging	Het
Ghrhr	T	A	6: 55,365,254 (GRCm39)	L416*	probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm1818	A	G	12: 48,602,982 (GRCm39)		noncoding transcript	Het
Gm19965	T	A	1: 116,748,550 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Itpkc	T	C	7: 26,927,195 (GRCm39)	I240V	probably benign	Het
Jakmip3	A	G	7: 138,629,515 (GRCm39)	D552G	probably damaging	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Kdm3a	T	C	6: 71,577,011 (GRCm39)	E768G	possibly damaging	Het
Klf6	A	G	13: 5,911,711 (GRCm39)	D25G	probably benign	Het
Lamc1	T	C	1: 153,122,977 (GRCm39)		probably benign	Het
Laptm4a	T	C	12: 8,986,716 (GRCm39)	V258A	probably damaging	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Mast1	T	C	8: 85,651,956 (GRCm39)	E342G	probably benign	Het
Mgat5b	T	C	11: 116,868,622 (GRCm39)	L515P	probably damaging	Het
Mink1	A	G	11: 70,502,166 (GRCm39)	D985G	probably benign	Het
Mphosph9	A	G	5: 124,453,739 (GRCm39)	V191A	possibly damaging	Het
Muc6	C	T	7: 141,234,368 (GRCm39)	G708S	probably damaging	Het
Pcnt	A	T	10: 76,228,878 (GRCm39)		probably null	Het
Psmd8	A	T	7: 28,875,598 (GRCm39)	Y174N	probably damaging	Het
Ptgdr2	C	A	19: 10,918,292 (GRCm39)	R270S	possibly damaging	Het
Rasal2	A	G	1: 156,975,218 (GRCm39)	M1172T	probably damaging	Het
Rif1	A	G	2: 51,997,640 (GRCm39)		probably benign	Het
Rnf123	C	T	9: 107,954,572 (GRCm39)	R48H	probably benign	Het
Rsrc1	T	C	3: 67,263,551 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Serpinb9d	C	T	13: 33,384,608 (GRCm39)	P195L	probably benign	Het
Sis	A	G	3: 72,865,437 (GRCm39)		probably benign	Het
Skint4	T	C	4: 111,981,793 (GRCm39)	M246T	probably benign	Het
Snrnp200	C	A	2: 127,070,997 (GRCm39)	R1093S	probably damaging	Het
Sp100	A	G	1: 85,629,141 (GRCm39)	N471D	possibly damaging	Het
Spmip4	T	A	6: 50,566,121 (GRCm39)	K118M	probably damaging	Het
Ssxb8	T	G	X: 8,556,062 (GRCm39)	H88P	probably damaging	Het
Sufu	T	C	19: 46,389,703 (GRCm39)		probably null	Het
Synpo2l	G	A	14: 20,718,235 (GRCm39)	T10I	possibly damaging	Het
Tdo2	A	T	3: 81,881,683 (GRCm39)	S40R	probably damaging	Het
Tent4b	T	A	8: 88,978,635 (GRCm39)	F445L	probably damaging	Het
Terb1	G	A	8: 105,210,938 (GRCm39)	T363I	probably benign	Het
Timd4	C	T	11: 46,708,498 (GRCm39)	P175S	probably damaging	Het
Tlr3	C	A	8: 45,850,171 (GRCm39)	V833L	probably damaging	Het
Tpst2	T	A	5: 112,455,911 (GRCm39)	M150K	probably damaging	Het
Trim67	T	A	8: 125,543,774 (GRCm39)	V378E	probably damaging	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Ubap2l	A	T	3: 89,930,807 (GRCm39)	S413T	probably benign	Het
Uimc1	G	A	13: 55,176,415 (GRCm39)	T701I	possibly damaging	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vmn1r60	A	G	7: 5,547,621 (GRCm39)	S160P	probably benign	Het
Vmn2r66	G	T	7: 84,654,799 (GRCm39)	D503E	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Zfp457	G	A	13: 67,441,748 (GRCm39)	P180S	probably damaging	Het

Other mutations in Eci2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Eci2	APN	13	35,174,312 (GRCm39)	nonsense	probably null
IGL02057:Eci2	APN	13	35,174,759 (GRCm39)	missense	probably damaging	1.00
IGL02141:Eci2	APN	13	35,162,656 (GRCm39)	missense	probably benign	0.00
IGL03149:Eci2	APN	13	35,172,296 (GRCm39)	missense	probably benign	0.41
BB001:Eci2	UTSW	13	35,177,053 (GRCm39)	nonsense	probably null
BB011:Eci2	UTSW	13	35,177,053 (GRCm39)	nonsense	probably null
R1488:Eci2	UTSW	13	35,161,916 (GRCm39)	missense	probably benign	0.00
R2110:Eci2	UTSW	13	35,174,699 (GRCm39)	critical splice donor site	probably null
R2111:Eci2	UTSW	13	35,174,699 (GRCm39)	critical splice donor site	probably null
R3704:Eci2	UTSW	13	35,177,216 (GRCm39)	splice site	probably benign
R5342:Eci2	UTSW	13	35,162,707 (GRCm39)	missense	probably benign	0.31
R5701:Eci2	UTSW	13	35,174,250 (GRCm39)	missense	possibly damaging	0.89
R6027:Eci2	UTSW	13	35,169,930 (GRCm39)	splice site	probably null
R6218:Eci2	UTSW	13	35,177,048 (GRCm39)	splice site	probably null
R6246:Eci2	UTSW	13	35,174,181 (GRCm39)	missense	probably damaging	1.00
R6357:Eci2	UTSW	13	35,177,082 (GRCm39)	missense	possibly damaging	0.87
R7924:Eci2	UTSW	13	35,177,053 (GRCm39)	nonsense	probably null
R8410:Eci2	UTSW	13	35,162,018 (GRCm39)	missense	probably benign
R8783:Eci2	UTSW	13	35,174,180 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15