Mutagenetix > Incidental Mutation

Incidental Mutation 'R5880:Echdc2'

454373

Institutional Source

Beutler Lab

Gene Symbol

Echdc2

Ensembl Gene

ENSMUSG00000028601

Gene Name

enoyl Coenzyme A hydratase domain containing 2

Synonyms

1300017C12Rik, 2610009M20Rik

MMRRC Submission

043235-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5880 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108022634-108036505 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 108030097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 133 (I133L)

Ref Sequence

ENSEMBL: ENSMUSP00000112011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052999] [ENSMUST00000116307] [ENSMUST00000116309] [ENSMUST00000125647] [ENSMUST00000126900] [ENSMUST00000130942]

AlphaFold

Q3TLP5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052999
AA Change: I133L

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

SMART Domains

Protein: ENSMUSP00000051268
Gene: ENSMUSG00000028601
AA Change: I133L

Domain	Start	End	E-Value	Type
Pfam:ECH_1	41	296	1.1e-60	PFAM
Pfam:ECH_2	46	225	5.1e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106691

SMART Domains

Protein: ENSMUSP00000102302
Gene: ENSMUSG00000028601

Domain	Start	End	E-Value	Type
Pfam:ECH_1	1	119	1.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116307

SMART Domains

Protein: ENSMUSP00000112009
Gene: ENSMUSG00000028601

Domain	Start	End	E-Value	Type
Pfam:ECH	39	131	6.7e-17	PFAM
Pfam:ECH	124	257	5.3e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116309
AA Change: I133L

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

SMART Domains

Protein: ENSMUSP00000112011
Gene: ENSMUSG00000028601
AA Change: I133L

Domain	Start	End	E-Value	Type
Pfam:ECH	39	288	3.2e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123280

Predicted Effect

probably benign
Transcript: ENSMUST00000125647

SMART Domains

Protein: ENSMUSP00000123913
Gene: ENSMUSG00000028601

Domain	Start	End	E-Value	Type
low complexity region	45	62	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000126900
AA Change: I13L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138701

Predicted Effect

probably benign
Transcript: ENSMUST00000130942

SMART Domains

Protein: ENSMUSP00000124746
Gene: ENSMUSG00000028601

Domain	Start	End	E-Value	Type
Pfam:ECH	39	103	8.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135718

SMART Domains

Protein: ENSMUSP00000114371
Gene: ENSMUSG00000028601

Domain	Start	End	E-Value	Type
Pfam:ECH_1	1	74	9.6e-16	PFAM
Pfam:ECH_2	2	74	1.1e-11	PFAM
Pfam:ECH_1	69	184	2.8e-14	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.2%
10x: 93.4%
20x: 74.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	G	A	18: 74,937,072 (GRCm39)	V319M	probably damaging	Het
Actrt2	T	A	4: 154,751,747 (GRCm39)	T130S	probably benign	Het
Ap1g2	A	G	14: 55,340,157 (GRCm39)	S392P	probably damaging	Het
Cby2	C	T	14: 75,821,243 (GRCm39)	V119I	probably benign	Het
Cdh23	T	A	10: 60,220,713 (GRCm39)	N1344Y	probably damaging	Het
Cyp4x1	A	T	4: 114,965,918 (GRCm39)	H469Q	possibly damaging	Het
Dhodh	T	A	8: 110,321,409 (GRCm39)	T326S	probably benign	Het
Ebf3	T	G	7: 136,800,367 (GRCm39)	N529T	probably benign	Het
Fbn2	A	T	18: 58,156,354 (GRCm39)	C2488*	probably null	Het
Fndc3b	T	A	3: 27,483,052 (GRCm39)	T1049S	probably damaging	Het
Igsf10	T	C	3: 59,238,252 (GRCm39)	Y643C	probably damaging	Het
Il15ra	A	G	2: 11,735,426 (GRCm39)	*104W	probably null	Het
Iqgap3	T	A	3: 88,024,509 (GRCm39)	S628R	possibly damaging	Het
Lrp1b	C	T	2: 41,231,826 (GRCm39)	V1215M	probably benign	Het
Mmp20	G	A	9: 7,655,002 (GRCm39)	R370Q	probably benign	Het
Or10al4	T	C	17: 38,037,545 (GRCm39)	V219A	probably benign	Het
Or4d5	A	T	9: 40,012,543 (GRCm39)	M81K	possibly damaging	Het
Or4k6	A	G	14: 50,476,172 (GRCm39)	S57P	possibly damaging	Het
Patj	A	T	4: 98,299,382 (GRCm39)	H168L	probably damaging	Het
Peak1	A	T	9: 56,114,894 (GRCm39)	I319N	probably damaging	Het
Rgs20	A	T	1: 4,994,104 (GRCm39)	C93S	probably damaging	Het
Sh3tc2	A	T	18: 62,106,382 (GRCm39)	H137L	probably benign	Het
Sycp2	A	G	2: 178,016,263 (GRCm39)	V733A	possibly damaging	Het
Tet3	G	C	6: 83,347,532 (GRCm39)	P1154R	probably damaging	Het

Other mutations in Echdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Echdc2	APN	4	108,036,108 (GRCm39)	missense	probably damaging	1.00
IGL03122:Echdc2	APN	4	108,022,777 (GRCm39)	missense	probably benign	0.00
IGL03201:Echdc2	APN	4	108,027,067 (GRCm39)	missense	possibly damaging	0.87
G1Funyon:Echdc2	UTSW	4	108,030,106 (GRCm39)	missense	probably benign
R1579:Echdc2	UTSW	4	108,031,006 (GRCm39)	missense	probably benign	0.01
R1836:Echdc2	UTSW	4	108,022,732 (GRCm39)	missense	probably damaging	0.99
R4994:Echdc2	UTSW	4	108,022,825 (GRCm39)	missense	probably benign	0.21
R5010:Echdc2	UTSW	4	108,029,328 (GRCm39)	missense	probably benign	0.00
R5111:Echdc2	UTSW	4	108,026,994 (GRCm39)	splice site	probably benign
R7175:Echdc2	UTSW	4	108,031,366 (GRCm39)	missense	probably damaging	1.00
R7699:Echdc2	UTSW	4	108,031,274 (GRCm39)	missense	probably benign
R7700:Echdc2	UTSW	4	108,031,274 (GRCm39)	missense	probably benign
R8301:Echdc2	UTSW	4	108,030,106 (GRCm39)	missense	probably benign
R8707:Echdc2	UTSW	4	108,031,028 (GRCm39)	missense	probably damaging	1.00
R9086:Echdc2	UTSW	4	108,027,076 (GRCm39)	nonsense	probably null
R9367:Echdc2	UTSW	4	108,036,111 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGGTCTTCTGACATCAGC -3'
(R):5'- TACGCGCACTCAGCTTTTG -3'

Sequencing Primer
(F):5'- TGCTACCAACCCCTGATTAGG -3'
(R):5'- GCGCACTCAGCTTTTGTTTTG -3'

Posted On

2017-02-10