Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02141:Eci2'

281561

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: 0.106) question?

Stock #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

35161731-35211079 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35162656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 300 (T300S)

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: T300S

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

SMART Domains

Protein: ENSMUSP00000021854
Gene: ENSMUSG00000021417
AA Change: T300S

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: T320S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105880
Gene: ENSMUSG00000021417
AA Change: T320S

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: T333S

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

SMART Domains

Protein: ENSMUSP00000131735
Gene: ENSMUSG00000021417
AA Change: T333S

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: T300S

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

SMART Domains

Protein: ENSMUSP00000137411
Gene: ENSMUSG00000021417
AA Change: T300S

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,120,275 (GRCm39)	A188T	probably benign	Het
2310022B05Rik	A	T	8: 125,364,645 (GRCm39)		probably benign	Het
Atf6b	C	A	17: 34,872,251 (GRCm39)	H539Q	probably benign	Het
Bmal2	T	A	6: 146,729,593 (GRCm39)		probably benign	Het
Bpifb5	G	T	2: 154,071,477 (GRCm39)		probably null	Het
Cep89	T	A	7: 35,120,349 (GRCm39)	M377K	probably damaging	Het
Clpx	G	T	9: 65,219,400 (GRCm39)		probably null	Het
Cops5	T	C	1: 10,105,342 (GRCm39)	K47E	probably damaging	Het
Cryba2	T	C	1: 74,931,943 (GRCm39)	N35S	probably benign	Het
Ddx27	A	G	2: 166,862,443 (GRCm39)	K162E	possibly damaging	Het
Dhx36	A	G	3: 62,401,310 (GRCm39)	S319P	probably benign	Het
Dram2	A	G	3: 106,479,012 (GRCm39)		probably benign	Het
Egf	C	A	3: 129,533,631 (GRCm39)	G70*	probably null	Het
Eif5b	T	C	1: 38,071,403 (GRCm39)	V444A	probably benign	Het
Elf3	T	C	1: 135,185,445 (GRCm39)	D23G	possibly damaging	Het
Epb41l4b	A	T	4: 57,103,422 (GRCm39)		probably null	Het
Fam167a	T	A	14: 63,689,708 (GRCm39)	S2T	probably benign	Het
Flrt3	A	G	2: 140,502,608 (GRCm39)	V340A	probably damaging	Het
Gimap3	T	C	6: 48,742,312 (GRCm39)	E206G	probably benign	Het
Gp6	T	C	7: 4,397,103 (GRCm39)		probably benign	Het
Gpr158	A	T	2: 21,788,101 (GRCm39)	M581L	probably damaging	Het
Hapln3	A	G	7: 78,767,893 (GRCm39)	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,358,142 (GRCm39)	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,251,982 (GRCm39)	I47T	probably damaging	Het
Iqgap1	G	A	7: 80,387,869 (GRCm39)	T926M	probably damaging	Het
Lonp1	A	T	17: 56,922,086 (GRCm39)	S765T	probably benign	Het
Lpp	C	T	16: 24,580,365 (GRCm39)	S27F	probably damaging	Het
Lrit2	T	C	14: 36,790,031 (GRCm39)		probably benign	Het
Luc7l	C	A	17: 26,472,054 (GRCm39)	T17K	probably damaging	Het
Mmut	A	G	17: 41,249,708 (GRCm39)	T228A	possibly damaging	Het
Mroh1	G	T	15: 76,330,799 (GRCm39)	S1161I	possibly damaging	Het
Muc5b	T	G	7: 141,407,104 (GRCm39)	C1091G	unknown	Het
Nppb	A	T	4: 148,070,463 (GRCm39)	I11F	probably benign	Het
Nsf	A	T	11: 103,719,351 (GRCm39)	D650E	probably benign	Het
Ogdh	A	G	11: 6,305,015 (GRCm39)	K907E	probably damaging	Het
Or1b1	G	A	2: 36,995,437 (GRCm39)	S75F	probably benign	Het
Or1j15	A	G	2: 36,458,820 (GRCm39)	D70G	probably damaging	Het
Or7a35	A	G	10: 78,853,555 (GRCm39)	Y133C	probably damaging	Het
Pcnx1	A	T	12: 81,907,156 (GRCm39)	Q4L	possibly damaging	Het
Pgc	T	A	17: 48,037,856 (GRCm39)	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,285,556 (GRCm39)	S887T	probably benign	Het
Plec	T	C	15: 76,059,815 (GRCm39)	D3239G	probably damaging	Het
Pole4	T	C	6: 82,625,015 (GRCm39)	T116A	probably benign	Het
Potegl	T	C	2: 23,120,212 (GRCm39)	F203L	probably damaging	Het
Prpf8	A	G	11: 75,381,498 (GRCm39)	N300D	possibly damaging	Het
Rara	T	A	11: 98,858,907 (GRCm39)	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,160,294 (GRCm39)	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Slfn2	C	A	11: 82,960,670 (GRCm39)	N216K	probably benign	Het
Suox	A	G	10: 128,507,967 (GRCm39)		probably benign	Het
Tars1	T	A	15: 11,391,280 (GRCm39)	Y283F	probably damaging	Het
Trpm4	A	T	7: 44,967,603 (GRCm39)		probably null	Het
Ubtd2	A	T	11: 32,449,262 (GRCm39)	K36N	probably benign	Het
Unkl	T	C	17: 25,448,408 (GRCm39)	L327P	probably damaging	Het
Vmn1r11	T	A	6: 57,114,364 (GRCm39)	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,227 (GRCm39)	V948A	probably benign	Het
Zbtb17	A	G	4: 141,192,264 (GRCm39)	H403R	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
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

2015-04-16