Mutagenetix > Incidental Mutation

Incidental Mutation 'R0016:Echdc1'

32706

Institutional Source

Beutler Lab

Gene Symbol

Echdc1

Ensembl Gene

ENSMUSG00000019883

Gene Name

enoyl Coenzyme A hydratase domain containing 1

Synonyms

1700028A24Rik

MMRRC Submission

038311-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R0016 (G1)

Quality Score

213

Status

Validated (trace)

Chromosome

Chromosomal Location

29189162-29223465 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 29198417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020034] [ENSMUST00000160399] [ENSMUST00000161605]

AlphaFold

Q9D9V3

Predicted Effect

probably benign
Transcript: ENSMUST00000020034

SMART Domains

Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883

Domain	Start	End	E-Value	Type
Pfam:ECH_1	74	307	4.8e-39	PFAM
Pfam:ECH_2	79	321	4.5e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160399

SMART Domains

Protein: ENSMUSP00000125553
Gene: ENSMUSG00000019883

Domain	Start	End	E-Value	Type
Pfam:ECH	49	293	1.6e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161426

Predicted Effect

probably benign
Transcript: ENSMUST00000161605

SMART Domains

Protein: ENSMUSP00000125048
Gene: ENSMUSG00000019883

Domain	Start	End	E-Value	Type
Pfam:ECH	49	165	4.4e-24	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,333,959 (GRCm39)	V1181G	probably benign	Het
Adamts12	A	T	15: 11,217,915 (GRCm39)	I291F	probably damaging	Het
Aspm	G	C	1: 139,407,282 (GRCm39)	Q2056H	probably benign	Het
C7	A	T	15: 5,076,406 (GRCm39)	V122E	probably benign	Het
Casp12	A	T	9: 5,352,844 (GRCm39)	Q152L	probably null	Het
Cdh16	T	A	8: 105,344,264 (GRCm39)	T92S	probably benign	Het
Chrd	G	C	16: 20,553,058 (GRCm39)	V162L	possibly damaging	Het
Cpne8	A	G	15: 90,385,608 (GRCm39)		probably benign	Het
Cspg4b	T	C	13: 113,502,639 (GRCm39)	Y115H	probably damaging	Het
Cyp2j7	T	A	4: 96,090,384 (GRCm39)	I347F	probably damaging	Het
Cyp4a10	A	T	4: 115,378,304 (GRCm39)	Q130L	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Dgkd	T	C	1: 87,845,674 (GRCm39)	S294P	probably benign	Het
Dnah8	A	G	17: 30,882,290 (GRCm39)	I621V	probably benign	Het
Dync2h1	A	G	9: 7,144,346 (GRCm39)		probably benign	Het
Elovl3	T	A	19: 46,120,597 (GRCm39)	F30Y	probably damaging	Het
Fa2h	T	C	8: 112,120,146 (GRCm39)	Y80C	probably damaging	Het
Fgd3	C	T	13: 49,450,085 (GRCm39)	D55N	probably benign	Het
Fhod1	T	C	8: 106,058,287 (GRCm39)	E823G	possibly damaging	Het
Gapvd1	A	G	2: 34,589,925 (GRCm39)		probably benign	Het
Gm17067	A	T	7: 42,358,046 (GRCm39)	I152K	probably benign	Het
Gvin3	G	A	7: 106,202,453 (GRCm39)	L264F	probably benign	Het
Kif27	A	G	13: 58,502,528 (GRCm39)	V50A	probably damaging	Het
Kpna2	T	C	11: 106,881,912 (GRCm39)	T305A	probably benign	Het
Krtap22-2	A	G	16: 88,807,407 (GRCm39)		probably benign	Het
Lrp2bp	T	A	8: 46,465,068 (GRCm39)	F62L	probably damaging	Het
Marf1	G	A	16: 13,970,129 (GRCm39)	H197Y	probably damaging	Het
Mob3b	A	G	4: 35,083,947 (GRCm39)	F81L	probably benign	Het
Mon2	C	T	10: 122,871,451 (GRCm39)	V389M	probably damaging	Het
Myef2l	A	T	3: 10,154,379 (GRCm39)	M383L	possibly damaging	Het
Myh8	A	G	11: 67,189,351 (GRCm39)	K1176E	probably damaging	Het
Naf1	T	C	8: 67,341,707 (GRCm39)		probably benign	Het
Nckap1l	A	G	15: 103,384,063 (GRCm39)	T554A	probably benign	Het
Oog3	A	G	4: 143,884,641 (GRCm39)	Y432H	probably damaging	Het
Paxbp1	A	T	16: 90,832,924 (GRCm39)		probably benign	Het
Phf20	A	T	2: 156,109,114 (GRCm39)	K154*	probably null	Het
Pip4p1	C	T	14: 51,166,351 (GRCm39)	R213Q	probably damaging	Het
Plekhj1	T	C	10: 80,632,250 (GRCm39)	D74G	possibly damaging	Het
Plpp4	T	C	7: 128,925,148 (GRCm39)	C128R	probably damaging	Het
Rcan3	A	T	4: 135,145,689 (GRCm39)		probably null	Het
Sh3rf1	T	A	8: 61,827,172 (GRCm39)	M642K	probably benign	Het
Slc7a1	A	G	5: 148,271,393 (GRCm39)	V522A	probably benign	Het
Sorbs1	A	G	19: 40,303,182 (GRCm39)		probably benign	Het
Spry2	C	T	14: 106,130,731 (GRCm39)	V152M	probably benign	Het
Srgap2	A	G	1: 131,277,200 (GRCm39)	M349T	possibly damaging	Het
Stag3	A	G	5: 138,289,643 (GRCm39)	H271R	possibly damaging	Het
Stat4	T	C	1: 52,107,939 (GRCm39)	V136A	probably benign	Het
Stc2	A	T	11: 31,310,177 (GRCm39)	D286E	probably benign	Het
Stk31	T	C	6: 49,414,311 (GRCm39)	Y482H	probably damaging	Het
Tasor2	A	C	13: 3,635,170 (GRCm39)		probably null	Het
Ticrr	C	T	7: 79,343,540 (GRCm39)	P1135L	probably benign	Het
Trim27	A	T	13: 21,375,399 (GRCm39)	E310V	probably benign	Het
Uvrag	T	C	7: 98,641,188 (GRCm39)	K284R	probably benign	Het
Vmn1r78	A	C	7: 11,887,279 (GRCm39)	S297R	probably benign	Het
Xylt2	A	G	11: 94,560,466 (GRCm39)	S270P	probably damaging	Het
Zfhx3	T	C	8: 109,676,810 (GRCm39)	M2620T	probably benign	Het
Zkscan2	C	A	7: 123,099,219 (GRCm39)		probably benign	Het
Zwint	T	C	10: 72,493,030 (GRCm39)		probably benign	Het

Other mutations in Echdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Echdc1	APN	10	29,193,616 (GRCm39)	missense	probably benign	0.01
IGL03106:Echdc1	APN	10	29,198,276 (GRCm39)	missense	probably damaging	1.00
IGL03185:Echdc1	APN	10	29,207,836 (GRCm39)	missense	possibly damaging	0.91
R0016:Echdc1	UTSW	10	29,198,417 (GRCm39)	splice site	probably benign
R1325:Echdc1	UTSW	10	29,193,544 (GRCm39)	missense	probably benign	0.05
R1850:Echdc1	UTSW	10	29,220,599 (GRCm39)	missense	probably damaging	1.00
R3151:Echdc1	UTSW	10	29,198,360 (GRCm39)	missense	possibly damaging	0.79
R4540:Echdc1	UTSW	10	29,220,578 (GRCm39)	missense	probably benign	0.00
R5310:Echdc1	UTSW	10	29,210,204 (GRCm39)	missense	possibly damaging	0.87
R6356:Echdc1	UTSW	10	29,220,522 (GRCm39)	splice site	probably null
R6569:Echdc1	UTSW	10	29,198,280 (GRCm39)	missense	probably damaging	1.00
R6606:Echdc1	UTSW	10	29,189,711 (GRCm39)	missense	probably benign
R8439:Echdc1	UTSW	10	29,210,242 (GRCm39)	missense	probably damaging	1.00
R9007:Echdc1	UTSW	10	29,220,426 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCCATTGACCTTGTTCACTGAGAC -3'
(R):5'- CCAAAATTGCTCTGCTTGGACCAC -3'

Sequencing Primer
(F):5'- GCAGAGCCTGTTTTATATACCTTG -3'
(R):5'- TCTGCTTGGACCACAAAGATG -3'

Posted On

2013-05-09