Mutagenetix > Incidental Mutation

Incidental Mutation 'R6357:Eci2'

512390

Institutional Source

Beutler Lab

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: 0.106) question?

Stock #

R6357 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35161731-35211079 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35177082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 26 (V26A)

Ref Sequence

ENSEMBL: ENSMUSP00000129164 (fasta)

Gene Model

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

AlphaFold

Q9WUR2

Predicted Effect

probably benign
Transcript: ENSMUST00000021854
AA Change: V26A

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021854
Gene: ENSMUSG00000021417
AA Change: V26A

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 benign
Transcript: ENSMUST00000110251
AA Change: V46A

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105880
Gene: ENSMUSG00000021417
AA Change: V46A

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

probably benign
Transcript: ENSMUST00000163280
AA Change: V26A

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126500
Gene: ENSMUSG00000021417
AA Change: V26A

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 benign
Transcript: ENSMUST00000171229
AA Change: V59A

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131735
Gene: ENSMUSG00000021417
AA Change: V59A

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

probably benign
Transcript: ENSMUST00000167036
AA Change: V26A

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130076
Gene: ENSMUSG00000021417
AA Change: V26A

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 benign
Transcript: ENSMUST00000169759
AA Change: V26A

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130283
Gene: ENSMUSG00000021417
AA Change: V26A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170538
AA Change: V26A

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129428
Gene: ENSMUSG00000021417
AA Change: V26A

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 benign
Transcript: ENSMUST00000170989
AA Change: V26A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129477
Gene: ENSMUSG00000021417
AA Change: V26A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171258
AA Change: V26A

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129164
Gene: ENSMUSG00000021417
AA Change: V26A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178421
AA Change: V26A

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000137411
Gene: ENSMUSG00000021417
AA Change: V26A

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

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 97.8%
20x: 92.8%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	C	17: 57,184,591 (GRCm39)		probably null	Het
Aoc1l2	A	G	6: 48,907,908 (GRCm39)	M303V	probably benign	Het
Armh4	A	T	14: 50,010,769 (GRCm39)	S313T	probably benign	Het
Calcr	T	C	6: 3,714,710 (GRCm39)	D140G	probably benign	Het
Card10	T	C	15: 78,683,579 (GRCm39)	E188G	probably damaging	Het
Cenpq	T	C	17: 41,235,418 (GRCm39)	E193G	probably damaging	Het
Cep164	G	A	9: 45,682,182 (GRCm39)	L1874F	probably damaging	Het
Dennd3	T	C	15: 73,428,321 (GRCm39)	M889T	possibly damaging	Het
Dnah9	T	C	11: 65,765,022 (GRCm39)	K3841E	probably damaging	Het
Dynlt2b	T	G	16: 32,247,873 (GRCm39)		probably null	Het
Eftud2	A	T	11: 102,755,606 (GRCm39)	N200K	probably damaging	Het
Eml5	T	A	12: 98,837,143 (GRCm39)	H357L	probably damaging	Het
Esam	T	C	9: 37,449,076 (GRCm39)	*395R	probably null	Het
Galt	C	T	4: 41,757,565 (GRCm39)	P246S	probably benign	Het
Gjb3	A	T	4: 127,220,423 (GRCm39)	Y36*	probably null	Het
Gli2	T	C	1: 118,769,689 (GRCm39)	E621G	probably damaging	Het
Gls	T	C	1: 52,258,665 (GRCm39)	D201G	probably damaging	Het
Gm10801	C	CGTCA	2: 98,494,152 (GRCm39)		probably null	Het
Gm1110	T	C	9: 26,825,424 (GRCm39)		probably null	Het
Gm5565	T	A	5: 146,097,283 (GRCm39)	H13L	possibly damaging	Het
Hydin	A	C	8: 111,268,289 (GRCm39)	T2923P	possibly damaging	Het
Kank1	A	T	19: 25,388,717 (GRCm39)	I797L	probably benign	Het
Klhdc8a	A	T	1: 132,230,891 (GRCm39)	Q252L	probably damaging	Het
Kmt5c	T	C	7: 4,745,204 (GRCm39)	F65S	possibly damaging	Het
Lix1	C	T	17: 17,666,255 (GRCm39)	P138L	probably benign	Het
Lnpep	T	C	17: 17,773,176 (GRCm39)	N664S	probably benign	Het
Msh6	T	A	17: 88,291,888 (GRCm39)	Y214*	probably null	Het
Nefl	A	G	14: 68,321,767 (GRCm39)	E119G	probably damaging	Het
Nptxr	C	A	15: 79,678,516 (GRCm39)	R257L	possibly damaging	Het
Or4k15c	C	A	14: 50,321,446 (GRCm39)	A231S	probably damaging	Het
Or7e173	T	A	9: 19,938,925 (GRCm39)	Q103L	probably damaging	Het
Oxct2b	A	G	4: 123,010,709 (GRCm39)	I210V	probably benign	Het
Plppr3	T	A	10: 79,701,240 (GRCm39)	Q534L	probably benign	Het
Psma1	T	C	7: 113,873,602 (GRCm39)		probably null	Het
Rbp3	G	A	14: 33,678,991 (GRCm39)	A980T	probably damaging	Het
Ripply2	T	A	9: 86,898,331 (GRCm39)	S58R	possibly damaging	Het
Robo1	T	C	16: 72,767,190 (GRCm39)	V454A	probably benign	Het
Sacs	A	G	14: 61,446,273 (GRCm39)	D2773G	possibly damaging	Het
Sirpb1b	A	T	3: 15,568,243 (GRCm39)	V366E	possibly damaging	Het
Slc5a7	T	C	17: 54,594,389 (GRCm39)	I197M	probably benign	Het
Spata31f1a	T	A	4: 42,850,393 (GRCm39)	I588F	probably damaging	Het
Spmap2	T	C	10: 79,422,789 (GRCm39)	S38G	probably benign	Het
Srgap2	T	C	1: 131,283,280 (GRCm39)	Y267C	probably damaging	Het
Ssc4d	T	C	5: 135,994,950 (GRCm39)	T189A	probably benign	Het
Tas2r106	A	G	6: 131,654,925 (GRCm39)	*309Q	probably null	Het
Vmn2r44	T	C	7: 8,373,657 (GRCm39)	M511V	probably benign	Het
Wdfy4	G	T	14: 32,823,006 (GRCm39)	Y1364*	probably null	Het
Zbtb8a	T	C	4: 129,248,092 (GRCm39)	H393R	probably benign	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
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
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

PCR Primer
(F):5'- AGGAGGCTACTCTGTGCTTTAATAG -3'
(R):5'- TCAGTAATCCTGTTGCTGCAG -3'

Sequencing Primer
(F):5'- AAATAAAGCCTGCATACATACACC -3'
(R):5'- TCCTGTTGCTGCAGAAATAAAAGG -3'

Posted On

2018-04-27