Mutagenetix > Incidental Mutation

Incidental Mutation 'R1488:Eci2'

165517

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

039540-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R1488 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35161731-35211079 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35161916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 352 (V352A)

Ref Sequence

ENSEMBL: ENSMUSP00000137411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021854] [ENSMUST00000110251] [ENSMUST00000171229] [ENSMUST00000178421]

AlphaFold

Q9WUR2

Predicted Effect

probably benign
Transcript: ENSMUST00000021854
AA Change: V352A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000021854
Gene: ENSMUSG00000021417
AA Change: V352A

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 benign
Transcript: ENSMUST00000110251
AA Change: V372A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105880
Gene: ENSMUSG00000021417
AA Change: V372A

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

noncoding transcript
Transcript: ENSMUST00000164421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171079

Predicted Effect

probably benign
Transcript: ENSMUST00000171229
AA Change: V385A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000131735
Gene: ENSMUSG00000021417
AA Change: V385A

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: ENSMUST00000178421
AA Change: V352A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000137411
Gene: ENSMUSG00000021417
AA Change: V352A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

100% (53/53)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	G	6: 48,910,381 (GRCm39)	N691S	possibly damaging	Het
Arhgap23	A	G	11: 97,391,685 (GRCm39)	S1401G	possibly damaging	Het
Art2b	A	C	7: 101,229,414 (GRCm39)	F162V	probably damaging	Het
Atg4c	T	A	4: 99,109,479 (GRCm39)	W149R	probably damaging	Het
Atxn1l	A	G	8: 110,460,049 (GRCm39)	I71T	probably benign	Het
Axdnd1	T	A	1: 156,176,530 (GRCm39)	L748F	probably damaging	Het
Bdh2	A	G	3: 135,002,602 (GRCm39)	Y157C	probably damaging	Het
C2cd4a	G	T	9: 67,738,990 (GRCm39)	R18S	probably benign	Het
Catsperb	A	G	12: 101,560,526 (GRCm39)	H839R	probably damaging	Het
Ccdc24	C	A	4: 117,727,765 (GRCm39)	S134I	possibly damaging	Het
Cd55	G	T	1: 130,376,115 (GRCm39)	T70K	probably damaging	Het
Cdh10	A	T	15: 19,013,349 (GRCm39)	I650F	probably damaging	Het
Clca3a2	T	A	3: 144,789,925 (GRCm39)	K470N	possibly damaging	Het
Csn2	G	A	5: 87,842,755 (GRCm39)	Q91*	probably null	Het
Ctsh	G	A	9: 89,953,944 (GRCm39)	D218N	possibly damaging	Het
Cyb5r4	C	G	9: 86,911,591 (GRCm39)	Y88*	probably null	Het
Dgkq	A	G	5: 108,798,743 (GRCm39)	F601S	probably damaging	Het
Krt28	T	C	11: 99,255,997 (GRCm39)	T421A	probably benign	Het
Lamp5	T	C	2: 135,911,011 (GRCm39)	V248A	probably benign	Het
Lin9	T	A	1: 180,515,850 (GRCm39)	L483Q	possibly damaging	Het
Lrp1b	C	A	2: 41,392,036 (GRCm39)	M509I	probably benign	Het
Lrrfip1	T	C	1: 91,042,354 (GRCm39)	V253A	probably damaging	Het
Mpdz	C	A	4: 81,266,945 (GRCm39)	E981*	probably null	Het
Mpo	A	C	11: 87,688,256 (GRCm39)	N305T	probably damaging	Het
Or2y1	A	G	11: 49,385,945 (GRCm39)	E195G	probably benign	Het
Or51a24	T	C	7: 103,733,859 (GRCm39)	I143V	probably benign	Het
Or5p79	A	T	7: 108,221,696 (GRCm39)	I226F	probably damaging	Het
Papss2	T	C	19: 32,614,490 (GRCm39)	S69P	probably benign	Het
Pcdhb22	A	G	18: 37,652,941 (GRCm39)	T470A	possibly damaging	Het
Plce1	A	G	19: 38,705,247 (GRCm39)	D884G	possibly damaging	Het
Prex2	T	A	1: 11,263,752 (GRCm39)	I1239K	probably benign	Het
Prkd2	T	A	7: 16,592,364 (GRCm39)	F625I	probably damaging	Het
Rab20	A	T	8: 11,504,268 (GRCm39)	V144E	probably benign	Het
Rnf213	A	G	11: 119,371,715 (GRCm39)	N4840S	probably benign	Het
Scaf8	T	G	17: 3,247,872 (GRCm39)	M1065R	probably damaging	Het
Slco3a1	A	G	7: 73,996,449 (GRCm39)	L319P	possibly damaging	Het
Slit1	A	G	19: 41,596,824 (GRCm39)	C1092R	probably damaging	Het
Tlr4	A	G	4: 66,757,786 (GRCm39)	D193G	probably damaging	Het
Tmem145	T	A	7: 25,006,860 (GRCm39)		probably null	Het
Tmem184a	T	A	5: 139,793,395 (GRCm39)	K235N	probably benign	Het
Tnpo1	A	T	13: 98,993,415 (GRCm39)	D590E	probably damaging	Het
Trio	C	A	15: 27,741,053 (GRCm39)	G2724V	probably damaging	Het
Ttc6	A	T	12: 57,696,301 (GRCm39)	Y34F	possibly damaging	Het
Tuba4a	T	C	1: 75,193,045 (GRCm39)	T190A	probably benign	Het
Tubgcp4	T	G	2: 121,007,031 (GRCm39)	V136G	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r74	T	C	7: 11,581,510 (GRCm39)	I270T	probably benign	Het
Vmn2r103	A	T	17: 20,013,922 (GRCm39)	E238V	probably damaging	Het
Vmn2r60	T	A	7: 41,786,137 (GRCm39)	F313L	probably benign	Het
Zfp710	T	C	7: 79,731,752 (GRCm39)	Y310H	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
R1175:Eci2	UTSW	13	35,177,087 (GRCm39)	missense	probably damaging	1.00
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

PCR Primer
(F):5'- CATGGTGTCAGGGATACGATGTCAG -3'
(R):5'- GGCTTTGTTCCATCAGGCCATGAG -3'

Sequencing Primer
(F):5'- TCAGCAGGTTTCAAGGACTC -3'
(R):5'- GTTCCATCAGGCCATGAGAATTTC -3'

Posted On

2014-03-28