Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02057:Eci2'

185252

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eci2

Ensembl Gene

ENSMUSG00000021417

Gene Name

enoyl-Coenzyme A delta isomerase 2

Synonyms

Peci, ACBD2, DRS1, HCA88

Accession Numbers

Essential gene?

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

Stock #

IGL02057

Quality Score

Status

Chromosome

Chromosomal Location

35161731-35211079 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35174759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 50 (L50P)

Ref Sequence

ENSEMBL: ENSMUSP00000137411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021854] [ENSMUST00000110251] [ENSMUST00000163280] [ENSMUST00000171229] [ENSMUST00000171258] [ENSMUST00000169759] [ENSMUST00000167036] [ENSMUST00000178421] [ENSMUST00000170538] [ENSMUST00000170989]

AlphaFold

Q9WUR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000021854
AA Change: L50P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021854
Gene: ENSMUSG00000021417
AA Change: L50P

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

possibly damaging
Transcript: ENSMUST00000110251
AA Change: L70P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105880
Gene: ENSMUSG00000021417
AA Change: L70P

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: L50P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126500
Gene: ENSMUSG00000021417
AA Change: L50P

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

possibly damaging
Transcript: ENSMUST00000171229
AA Change: L83P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131735
Gene: ENSMUSG00000021417
AA Change: L83P

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: ENSMUST00000171258
AA Change: L50P

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129164
Gene: ENSMUSG00000021417
AA Change: L50P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169759
AA Change: L50P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130283
Gene: ENSMUSG00000021417
AA Change: L50P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167036
AA Change: L50P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130076
Gene: ENSMUSG00000021417
AA Change: L50P

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: L50P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137411
Gene: ENSMUSG00000021417
AA Change: L50P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170538
AA Change: L50P

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

SMART Domains

Protein: ENSMUSP00000129428
Gene: ENSMUSG00000021417
AA Change: L50P

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: ENSMUST00000170989
AA Change: L50P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129477
Gene: ENSMUSG00000021417
AA Change: L50P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171079

Coding Region Coverage

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankk1	T	C	9: 49,328,072 (GRCm39)	N369S	probably damaging	Het
Atp13a3	C	T	16: 30,151,182 (GRCm39)	A1043T	probably benign	Het
AY358078	G	A	14: 52,057,762 (GRCm39)	V287I	unknown	Het
Cemip	T	C	7: 83,636,661 (GRCm39)	E324G	probably damaging	Het
Ckap5	T	A	2: 91,431,052 (GRCm39)	D1487E	possibly damaging	Het
Dscam	G	A	16: 96,517,273 (GRCm39)	Q879*	probably null	Het
Erp44	A	T	4: 48,236,964 (GRCm39)	H65Q	probably benign	Het
Fahd1	A	T	17: 25,068,570 (GRCm39)	I169N	probably damaging	Het
Galm	T	C	17: 80,488,996 (GRCm39)	I214T	probably benign	Het
Gipc3	T	A	10: 81,178,968 (GRCm39)	N42Y	probably damaging	Het
H2-Eb2	A	T	17: 34,554,741 (GRCm39)		probably benign	Het
Itgb3	A	T	11: 104,523,174 (GRCm39)	I113F	probably damaging	Het
Lef1	T	G	3: 130,994,051 (GRCm39)	Y342*	probably null	Het
Lilrb4a	G	A	10: 51,368,103 (GRCm39)	D168N	possibly damaging	Het
Or51b6b	T	A	7: 103,309,860 (GRCm39)	Y199F	probably damaging	Het
Or5m10	T	A	2: 85,717,275 (GRCm39)	F44I	probably benign	Het
Orc1	T	G	4: 108,445,926 (GRCm39)	S15A	possibly damaging	Het
Pdk2	C	T	11: 94,919,324 (GRCm39)	G317D	probably benign	Het
Rab37	T	C	11: 115,051,543 (GRCm39)	S217P	probably benign	Het
Rere	C	T	4: 150,699,289 (GRCm39)		probably benign	Het
Scn11a	C	T	9: 119,594,536 (GRCm39)	G1286S	probably damaging	Het
Sirt1	A	G	10: 63,160,982 (GRCm39)	S357P	probably damaging	Het
Smpdl3b	T	A	4: 132,461,024 (GRCm39)	E351V	probably benign	Het
Sox6	C	A	7: 115,149,310 (GRCm39)	G355W	probably damaging	Het
Spopfm2	T	A	3: 94,083,662 (GRCm39)	S50C	probably damaging	Het
Srpk2	G	T	5: 23,723,705 (GRCm39)	A502E	probably damaging	Het
Trim67	G	A	8: 125,549,869 (GRCm39)	V500I	probably benign	Het
Ube2v2	A	G	16: 15,394,922 (GRCm39)	V83A	probably benign	Het
Usp43	A	T	11: 67,747,113 (GRCm39)	S865T	probably benign	Het
Vdac1	G	A	11: 52,267,371 (GRCm39)		probably null	Het
Vmn2r69	T	A	7: 85,060,990 (GRCm39)	H198L	possibly damaging	Het
Vmn2r93	T	C	17: 18,546,032 (GRCm39)	C635R	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
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
R1175:Eci2	UTSW	13	35,177,087 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-05-07