Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Eci2'

503861

Institutional Source

Beutler Lab

Gene Symbol

Eci2

Ensembl Gene

ENSMUSG00000021417

Gene Name

enoyl-Coenzyme A delta isomerase 2

Synonyms

DRS1, HCA88, ACBD2, Peci

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34977748-35027096 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 34993065 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137411 (fasta)

Gene Model

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

AlphaFold

Q9WUR2

Predicted Effect

probably null
Transcript: ENSMUST00000021854

SMART Domains

Protein: ENSMUSP00000021854
Gene: ENSMUSG00000021417

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 null
Transcript: ENSMUST00000110251

SMART Domains

Protein: ENSMUSP00000105880
Gene: ENSMUSG00000021417

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 null
Transcript: ENSMUST00000163280

SMART Domains

Protein: ENSMUSP00000126500
Gene: ENSMUSG00000021417

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 null
Transcript: ENSMUST00000167036

SMART Domains

Protein: ENSMUSP00000130076
Gene: ENSMUSG00000021417

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 null
Transcript: ENSMUST00000169759

SMART Domains

Protein: ENSMUSP00000130283
Gene: ENSMUSG00000021417

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

Predicted Effect

probably null
Transcript: ENSMUST00000170538

SMART Domains

Protein: ENSMUSP00000129428
Gene: ENSMUSG00000021417

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 null
Transcript: ENSMUST00000170989

SMART Domains

Protein: ENSMUSP00000129477
Gene: ENSMUSG00000021417

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

Predicted Effect

probably null
Transcript: ENSMUST00000171229

SMART Domains

Protein: ENSMUSP00000131735
Gene: ENSMUSG00000021417

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 null
Transcript: ENSMUST00000171258

SMART Domains

Protein: ENSMUSP00000129164
Gene: ENSMUSG00000021417

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

Predicted Effect

probably null
Transcript: ENSMUST00000178421

SMART Domains

Protein: ENSMUSP00000137411
Gene: ENSMUSG00000021417

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,904	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 49,019,307	N766K	probably benign	Het
Adam15	A	C	3: 89,343,883	I505S	probably benign	Het
Apc2	T	C	10: 80,306,420	M391T	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bclaf1	A	G	10: 20,334,628	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,239,060	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,747,928		probably null	Het
Ddhd1	A	G	14: 45,614,176	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,523,672	S469T	probably benign	Het
Dzip3	A	T	16: 48,958,465	M323K	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,409	A10T	possibly damaging	Het
Fam109b	T	A	15: 82,343,716	H145Q	probably benign	Het
Fam227b	A	T	2: 126,126,962	V64E	probably damaging	Het
Galnt2	A	G	8: 124,343,315	I524V	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm14548	A	T	7: 3,894,032	S602T	possibly damaging	Het
Gm3443	T	A	19: 21,555,746	S25T	probably damaging	Het
Gpr22	T	A	12: 31,711,617	K14*	probably null	Het
Grip1	T	C	10: 119,986,346	S405P	possibly damaging	Het
Helz2	C	A	2: 181,232,294	V2136L	probably benign	Het
Helz2	T	C	2: 181,235,945	H1020R	probably damaging	Het
Il1f5	G	A	2: 24,277,490		probably benign	Het
Iqsec1	T	A	6: 90,689,635	S607C	probably damaging	Het
Klhl2	A	T	8: 64,752,767	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,292,747	I595V	unknown	Het
Large2	T	C	2: 92,370,636	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,082,159	Y122H	probably damaging	Het
Map1b	A	T	13: 99,433,206	D1002E	unknown	Het
Mink1	C	T	11: 70,598,894	T59I	possibly damaging	Het
Mrvi1	G	A	7: 110,876,905	T819M	probably benign	Het
Myo7b	T	C	18: 31,959,454	N2097D	probably benign	Het
Nbea	C	A	3: 55,628,484	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,436,093	V490E	probably damaging	Het
Olfr1230	G	T	2: 89,296,962	H103N	probably damaging	Het
Olfr131	A	G	17: 38,082,729	M83T	probably damaging	Het
Olfr1318	T	C	2: 112,156,356	I135T	probably damaging	Het
Olfr1369-ps1	G	A	13: 21,116,231	E180K	probably damaging	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pdcl3	T	C	1: 38,988,071		probably null	Het
Pkp1	T	C	1: 135,879,908	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,591,564	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,431	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,208,811	Y712H	probably damaging	Het
Prune2	T	C	19: 17,121,562	S1477P	probably benign	Het
Psma5	A	G	3: 108,279,802	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,270,456	A284P	probably benign	Het
Samsn1	G	A	16: 75,945,274		noncoding transcript	Het
Scel	A	G	14: 103,572,042	T273A	probably benign	Het
Slc22a5	T	A	11: 53,891,618		probably benign	Het
Slc25a37	A	T	14: 69,249,504	M110K	possibly damaging	Het
Slc6a2	A	T	8: 92,981,981	M242L	probably benign	Het
Slc8a3	C	A	12: 81,199,567	W904L	probably benign	Het
Ss18l1	G	A	2: 180,055,112	V109I	probably benign	Het
Tbx5	C	T	5: 119,853,598	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,052,913	L244F	probably damaging	Het
Tmem107	T	A	11: 69,071,415	V66E	probably damaging	Het
Tnr	T	C	1: 159,888,314	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,470,807	V340A	possibly damaging	Het
Veph1	T	C	3: 66,255,060	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,229,721	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,464	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,998,073	E620G	probably benign	Het
Zfp418	A	G	7: 7,182,628	H530R	possibly damaging	Het

Other mutations in Eci2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Eci2	APN	13	34990329	nonsense	probably null
IGL02057:Eci2	APN	13	34990776	missense	probably damaging	1.00
IGL02141:Eci2	APN	13	34978673	missense	probably benign	0.00
IGL03149:Eci2	APN	13	34988313	missense	probably benign	0.41
BB001:Eci2	UTSW	13	34993070	nonsense	probably null
BB011:Eci2	UTSW	13	34993070	nonsense	probably null
R1175:Eci2	UTSW	13	34993104	missense	probably damaging	1.00
R1488:Eci2	UTSW	13	34977933	missense	probably benign	0.00
R2110:Eci2	UTSW	13	34990716	critical splice donor site	probably null
R2111:Eci2	UTSW	13	34990716	critical splice donor site	probably null
R3704:Eci2	UTSW	13	34993233	splice site	probably benign
R5342:Eci2	UTSW	13	34978724	missense	probably benign	0.31
R5701:Eci2	UTSW	13	34990267	missense	possibly damaging	0.89
R6027:Eci2	UTSW	13	34985947	splice site	probably null
R6246:Eci2	UTSW	13	34990198	missense	probably damaging	1.00
R6357:Eci2	UTSW	13	34993099	missense	possibly damaging	0.87
R7924:Eci2	UTSW	13	34993070	nonsense	probably null
R8410:Eci2	UTSW	13	34978035	missense	probably benign
R8783:Eci2	UTSW	13	34990197	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGGCTCCAAACATGTG -3'
(R):5'- TAGTGTCCTGCAGGTCTTCAG -3'

Sequencing Primer
(F):5'- CTCTTTATTCTGGAGAGAAGCAGAG -3'
(R):5'- GTCCTGCAGGTCTTCAGATTACAAG -3'

Posted On

2018-02-27