Mutagenetix > Incidental Mutation

Incidental Mutation 'R5701:Eci2'

450905

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

043181-MU

Accession Numbers

Essential gene?

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

Stock #

R5701 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35161731-35211079 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35174250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 104 (S104T)

Ref Sequence

ENSEMBL: ENSMUSP00000129164 (fasta)

Gene Model

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

AlphaFold

Q9WUR2

Predicted Effect

probably benign
Transcript: ENSMUST00000021854
AA Change: S104T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000021854
Gene: ENSMUSG00000021417
AA Change: S104T

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: S124T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105880
Gene: ENSMUSG00000021417
AA Change: S124T

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: S104T

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000126500
Gene: ENSMUSG00000021417
AA Change: S104T

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: ENSMUST00000169759
AA Change: S104T

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130283
Gene: ENSMUSG00000021417
AA Change: S104T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167036
AA Change: S104T

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130076
Gene: ENSMUSG00000021417
AA Change: S104T

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: ENSMUST00000170538
AA Change: S104T

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129428
Gene: ENSMUSG00000021417
AA Change: S104T

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: S104T

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129477
Gene: ENSMUSG00000021417
AA Change: S104T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171229
AA Change: S137T

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131735
Gene: ENSMUSG00000021417
AA Change: S137T

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: S104T

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129164
Gene: ENSMUSG00000021417
AA Change: S104T

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: S104T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000137411
Gene: ENSMUSG00000021417
AA Change: S104T

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Asxl1	A	G	2: 153,241,409 (GRCm39)	E653G	probably damaging	Het
AW551984	G	A	9: 39,504,118 (GRCm39)	A616V	probably benign	Het
Birc6	T	C	17: 75,004,420 (GRCm39)	M4763T	possibly damaging	Het
Bltp1	T	A	3: 36,975,509 (GRCm39)	M727K	probably benign	Het
Cand2	T	G	6: 115,774,893 (GRCm39)	F1034V	probably damaging	Het
Ccdc80	T	C	16: 44,936,741 (GRCm39)	V722A	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Chrnd	G	A	1: 87,125,380 (GRCm39)	V340I	possibly damaging	Het
Clip1	T	C	5: 123,751,366 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,513,617 (GRCm39)	E1920G	probably damaging	Het
Csmd3	A	T	15: 48,403,729 (GRCm39)	F194I	probably damaging	Het
D930048N14Rik	T	A	11: 51,544,556 (GRCm39)		probably null	Het
Defa28	T	C	8: 22,073,863 (GRCm39)	Y89H	probably benign	Het
Dnah1	C	T	14: 30,996,001 (GRCm39)	G2705E	probably damaging	Het
Ep300	T	C	15: 81,485,696 (GRCm39)	S228P	unknown	Het
Gabrb2	T	A	11: 42,378,201 (GRCm39)	M139K	probably damaging	Het
Gbp4	T	A	5: 105,266,265 (GRCm39)	N592I	possibly damaging	Het
Gpr158	C	T	2: 21,751,520 (GRCm39)	R480C	probably damaging	Het
Gps1	A	G	11: 120,676,008 (GRCm39)	D71G	probably benign	Het
Hoxc9	T	C	15: 102,890,313 (GRCm39)	Y77H	possibly damaging	Het
Il9r	T	A	11: 32,143,263 (GRCm39)	Y231F	probably benign	Het
Klhl1	A	G	14: 96,438,816 (GRCm39)	M494T	probably benign	Het
Kmt2c	A	G	5: 25,519,015 (GRCm39)	V2365A	probably benign	Het
Kri1	T	A	9: 21,192,425 (GRCm39)	K241M	possibly damaging	Het
Macf1	A	T	4: 123,397,018 (GRCm39)	C928S	probably damaging	Het
Mcm2	T	C	6: 88,870,073 (GRCm39)	D32G	probably damaging	Het
Mex3d	T	C	10: 80,217,379 (GRCm39)	T613A	probably benign	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Myh9	T	C	15: 77,675,964 (GRCm39)	I241V	probably benign	Het
Myo6	C	T	9: 80,165,809 (GRCm39)	T398I	probably damaging	Het
Nckap1l	G	A	15: 103,381,195 (GRCm39)	A366T	probably benign	Het
Or5m11	A	G	2: 85,782,168 (GRCm39)	T254A	possibly damaging	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Rapgef6	T	C	11: 54,567,220 (GRCm39)	W857R	possibly damaging	Het
Raxos1	G	A	18: 66,071,059 (GRCm39)		probably benign	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Slc66a2	T	A	18: 80,315,693 (GRCm39)	D118E	possibly damaging	Het
Synpo2	C	G	3: 122,873,879 (GRCm39)	G1029A	probably damaging	Het
Tbc1d5	TTGCTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG	17: 51,106,983 (GRCm39)		probably benign	Het
Vmn2r14	T	C	5: 109,367,816 (GRCm39)	Y392C	probably damaging	Het
Vmn2r55	A	G	7: 12,404,492 (GRCm39)	F304L	probably benign	Het
Zfp316	C	T	5: 143,240,132 (GRCm39)	G629D	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
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'- GAAGCCAGCCACTCTCATCTTC -3'
(R):5'- ATTGAATCAGATCCCCTGCTC -3'

Sequencing Primer
(F):5'- GCCACTCTCATCTTCTTCCACAAAAC -3'
(R):5'- GAATCAGATCCCCTGCTCTTTGTTG -3'

Posted On

2017-01-03