Mutagenetix > Incidental Mutation

Incidental Mutation 'R8439:Echdc1'

654167

Institutional Source

Beutler Lab

Gene Symbol

Echdc1

Ensembl Gene

ENSMUSG00000019883

Gene Name

enoyl Coenzyme A hydratase domain containing 1

Synonyms

1700028A24Rik

MMRRC Submission

067883-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R8439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29189162-29223465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 29210242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 179 (E179Q)

Ref Sequence

ENSEMBL: ENSMUSP00000020034 (fasta)

Gene Model

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

AlphaFold

Q9D9V3

Predicted Effect

probably damaging
Transcript: ENSMUST00000020034
AA Change: E179Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883
AA Change: E179Q

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 damaging
Transcript: ENSMUST00000160399
AA Change: E156Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125553
Gene: ENSMUSG00000019883
AA Change: E156Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161605
AA Change: E156Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125048
Gene: ENSMUSG00000019883
AA Change: E156Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	T	10: 79,841,995 (GRCm39)	T1043S	probably benign	Het
Acadvl	T	A	11: 69,902,554 (GRCm39)	K410*	probably null	Het
Adam8	C	T	7: 139,567,762 (GRCm39)	G354D	probably benign	Het
Ahctf1	T	C	1: 179,590,175 (GRCm39)	E1366G	possibly damaging	Het
Bahcc1	C	A	11: 120,165,415 (GRCm39)	Q949K	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Ccdc141	T	A	2: 76,889,894 (GRCm39)	Y466F	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cyp4a30b	C	A	4: 115,314,972 (GRCm39)	Q185K	probably benign	Het
Dlx2	A	T	2: 71,375,882 (GRCm39)	I147K	possibly damaging	Het
Dnaaf6rt	T	A	1: 31,262,349 (GRCm39)	D110E	probably damaging	Het
Dnaaf9	A	G	2: 130,612,621 (GRCm39)	L482S	probably damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dock7	C	A	4: 98,971,266 (GRCm39)	V100F		Het
Dspp	C	A	5: 104,325,162 (GRCm39)	D508E	unknown	Het
Duox2	G	T	2: 122,128,636 (GRCm39)	T4K	probably benign	Het
Ear1	T	C	14: 44,056,704 (GRCm39)	N55D	probably damaging	Het
Ehbp1	T	C	11: 22,046,109 (GRCm39)	M547V	possibly damaging	Het
Erbb2	A	G	11: 98,319,798 (GRCm39)	N630S	possibly damaging	Het
Fam227a	G	A	15: 79,514,271 (GRCm39)	S363L	possibly damaging	Het
Fam98b	A	G	2: 117,101,381 (GRCm39)	R398G	unknown	Het
Fsip2	G	A	2: 82,807,430 (GRCm39)	D1250N	probably benign	Het
Gdnf	G	T	15: 7,864,134 (GRCm39)	E182*	probably null	Het
Gys2	T	C	6: 142,406,921 (GRCm39)	H145R	probably benign	Het
Hcls1	A	G	16: 36,767,003 (GRCm39)	K69R	probably benign	Het
Itih5	A	G	2: 10,239,869 (GRCm39)	N332S	probably benign	Het
Kcnb2	T	A	1: 15,382,934 (GRCm39)	Y87N	probably damaging	Het
Lrriq3	A	G	3: 154,893,873 (GRCm39)	N525D	probably damaging	Het
Lsg1	A	T	16: 30,380,569 (GRCm39)	W623R	probably damaging	Het
Myo10	A	G	15: 25,725,158 (GRCm39)	Y243C	probably benign	Het
Nans	T	C	4: 46,492,814 (GRCm39)	Y81H	probably damaging	Het
Nup54	T	G	5: 92,573,605 (GRCm39)	N199T	probably benign	Het
Or2h1	A	G	17: 37,404,664 (GRCm39)	L34P	probably damaging	Het
Or4c126	C	T	2: 89,824,348 (GRCm39)	L204F	probably benign	Het
Or4k15	T	C	14: 50,364,604 (GRCm39)	I190T	probably benign	Het
Or5w13	A	T	2: 87,524,088 (GRCm39)	I46N	probably damaging	Het
Or7d9	T	A	9: 20,197,337 (GRCm39)	L122*	probably null	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Peg10	T	C	6: 4,755,462 (GRCm39)	F13L	possibly damaging	Het
Plcb1	T	C	2: 135,091,972 (GRCm39)		probably null	Het
Ppfibp1	T	C	6: 146,902,448 (GRCm39)	V285A	possibly damaging	Het
Prpf39	T	C	12: 65,102,036 (GRCm39)	V371A	possibly damaging	Het
Psmb11	G	A	14: 54,863,013 (GRCm39)	C77Y	probably damaging	Het
Rrbp1	A	G	2: 143,797,053 (GRCm39)	L1133P	probably benign	Het
Slc16a1	G	T	3: 104,560,149 (GRCm39)	M151I	probably benign	Het
Tarm1	G	T	7: 3,546,037 (GRCm39)	Q89K	possibly damaging	Het
Tas2r116	T	C	6: 132,832,540 (GRCm39)	I47T	probably damaging	Het
Tmod3	T	C	9: 75,436,680 (GRCm39)	D85G	probably damaging	Het
Trbv14	T	C	6: 41,112,299 (GRCm39)	L32P	probably benign	Het
Trim16	T	C	11: 62,741,414 (GRCm39)	L486P	probably benign	Het
Trmt1l	T	G	1: 151,325,727 (GRCm39)	S391A	probably benign	Het
Ush2a	T	A	1: 188,582,254 (GRCm39)	N3772K	probably damaging	Het
Vmn1r230	G	T	17: 21,066,870 (GRCm39)	A20S	probably benign	Het
Wdr76	A	G	2: 121,341,179 (GRCm39)	N75D	possibly damaging	Het
Zfp977	A	G	7: 42,230,102 (GRCm39)	L141S	probably benign	Het
Zfp988	A	G	4: 147,416,808 (GRCm39)	D414G	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
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
R9007:Echdc1	UTSW	10	29,220,426 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTGGTGCCCTTGATACTTC -3'
(R):5'- TAGTCACTGTGTTCTGCTGC -3'

Sequencing Primer
(F):5'- GCCCTTGATACTTCCTGTTATTAAC -3'
(R):5'- CACTGTGTTCTGCTGCTTTTTAAAAG -3'

Posted On

2020-10-20