Mutagenetix > Incidental Mutation

Incidental Mutation 'R5310:Echdc1'

404795

Institutional Source

Beutler Lab

Gene Symbol

Echdc1

Ensembl Gene

ENSMUSG00000019883

Gene Name

enoyl Coenzyme A hydratase domain containing 1

Synonyms

1700028A24Rik

MMRRC Submission

042893-MU

Accession Numbers

Essential gene?

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

Stock #

R5310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29189162-29223465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29210204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 143 (V143A)

Ref Sequence

ENSEMBL: ENSMUSP00000125553 (fasta)

Gene Model

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

AlphaFold

Q9D9V3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020034
AA Change: V166A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883
AA Change: V166A

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

possibly damaging
Transcript: ENSMUST00000160399
AA Change: V143A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125553
Gene: ENSMUSG00000019883
AA Change: V143A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161426

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161605
AA Change: V143A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125048
Gene: ENSMUSG00000019883
AA Change: V143A

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

Meta Mutation Damage Score

0.4323

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,931,839 (GRCm39)	I31L	possibly damaging	Het
Abca17	T	C	17: 24,500,204 (GRCm39)	K1329R	probably benign	Het
Acap2	A	G	16: 30,952,427 (GRCm39)	Y197H	probably benign	Het
Adgrv1	A	G	13: 81,624,809 (GRCm39)	V3720A	possibly damaging	Het
Alms1	T	A	6: 85,592,350 (GRCm39)	S870T	possibly damaging	Het
Anapc4	A	G	5: 53,016,501 (GRCm39)	E493G	probably benign	Het
Ap2a1	A	G	7: 44,555,489 (GRCm39)		probably null	Het
Arhgef38	A	G	3: 132,822,227 (GRCm39)	L179P	probably damaging	Het
Bicral	T	C	17: 47,124,909 (GRCm39)	D630G	possibly damaging	Het
Ccdc97	A	T	7: 25,415,201 (GRCm39)	L154Q	probably damaging	Het
Cd40	T	C	2: 164,905,483 (GRCm39)		probably null	Het
Celsr1	T	A	15: 85,810,423 (GRCm39)	N2155I	possibly damaging	Het
Cemip	A	T	7: 83,641,241 (GRCm39)	L261H	probably damaging	Het
Cep57	G	A	9: 13,730,164 (GRCm39)	H98Y	probably damaging	Het
Chrna7	A	T	7: 62,755,805 (GRCm39)	L247Q	probably damaging	Het
Cyp2c40	T	A	19: 39,766,474 (GRCm39)	M374L	probably damaging	Het
Cyp4f13	T	C	17: 33,144,795 (GRCm39)	D372G	probably damaging	Het
Dazl	C	A	17: 50,588,311 (GRCm39)	S288I	probably damaging	Het
Dnah5	T	C	15: 28,311,474 (GRCm39)	F1818L	probably damaging	Het
Eif4enif1	T	A	11: 3,192,687 (GRCm39)	H838Q	probably damaging	Het
Erich3	A	T	3: 154,469,217 (GRCm39)	D1223V	probably damaging	Het
Fbxl2	A	G	9: 113,815,576 (GRCm39)	I229T	possibly damaging	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Ggnbp2	A	G	11: 84,760,794 (GRCm39)	M1T	probably null	Het
Glb1l2	C	T	9: 26,708,162 (GRCm39)		probably benign	Het
Gnl2	A	G	4: 124,946,633 (GRCm39)	K618R	probably benign	Het
Greb1	A	T	12: 16,766,760 (GRCm39)	I346K	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Gtse1	A	G	15: 85,757,993 (GRCm39)	Q533R	probably benign	Het
Hemgn	A	G	4: 46,403,927 (GRCm39)	S23P	possibly damaging	Het
Htr6	G	T	4: 138,788,977 (GRCm39)	H359Q	probably damaging	Het
Ifit1	T	C	19: 34,626,204 (GRCm39)	F447L	probably benign	Het
Kansl1	T	C	11: 104,315,684 (GRCm39)	Y118C	possibly damaging	Het
Khk	G	A	5: 31,084,373 (GRCm39)	V118M	probably benign	Het
Klra17	T	A	6: 129,845,671 (GRCm39)	K181M	probably damaging	Het
Lbh	T	C	17: 73,228,287 (GRCm39)		probably null	Het
Lmo2	T	C	2: 103,806,445 (GRCm39)	I108T	probably damaging	Het
Maco1	T	C	4: 134,564,330 (GRCm39)		probably benign	Het
Mgat5	T	A	1: 127,315,251 (GRCm39)		probably null	Het
Mink1	T	C	11: 70,498,169 (GRCm39)	V525A	probably benign	Het
Myo10	C	A	15: 25,778,164 (GRCm39)		probably null	Het
Nlrp2	T	C	7: 5,328,007 (GRCm39)	N682S	probably benign	Het
Nr2e3	G	A	9: 59,856,617 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,414,171 (GRCm39)	C129R	probably damaging	Het
Or6b2b	T	C	1: 92,418,758 (GRCm39)	T240A	probably damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pfas	G	A	11: 68,878,847 (GRCm39)	S1319F	probably damaging	Het
Phf3	T	C	1: 30,842,887 (GRCm39)	K2024R	probably damaging	Het
Pld4	G	A	12: 112,735,046 (GRCm39)	C501Y	probably damaging	Het
Psg16	C	T	7: 16,824,560 (GRCm39)	R115W	probably damaging	Het
Rab3gap1	G	A	1: 127,870,110 (GRCm39)		probably null	Het
Rimkla	C	A	4: 119,335,049 (GRCm39)	K111N	probably damaging	Het
Rrm2b	T	C	15: 37,927,571 (GRCm39)	E113G	probably damaging	Het
Rspry1	C	T	8: 95,349,813 (GRCm39)	T67I	probably benign	Het
Skint6	C	A	4: 113,041,965 (GRCm39)	E292*	probably null	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc13a1	A	G	6: 24,134,373 (GRCm39)	M170T	probably benign	Het
Slc15a5	T	C	6: 138,050,034 (GRCm39)	N127S	probably benign	Het
Slc39a10	G	A	1: 46,875,285 (GRCm39)	H6Y	probably damaging	Het
Spata31e2	A	C	1: 26,724,169 (GRCm39)	V337G	probably benign	Het
Sugct	A	T	13: 17,427,145 (GRCm39)	C338*	probably null	Het
Tbk1	A	T	10: 121,391,956 (GRCm39)	M486K	probably benign	Het
Terf1	A	T	1: 15,875,909 (GRCm39)	E3V	probably damaging	Het
Thoc5	T	A	11: 4,860,648 (GRCm39)	Y246N	probably damaging	Het
Tmem167b	G	A	3: 108,469,415 (GRCm39)		probably benign	Het
Tmtc1	T	A	6: 148,256,910 (GRCm39)		probably benign	Het
Zfp322a	A	T	13: 23,541,532 (GRCm39)	M70K	possibly damaging	Het
Zfp979	A	T	4: 147,698,375 (GRCm39)	H111Q	possibly damaging	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
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'- TTTGCTGACTTCCTGGAGC -3'
(R):5'- AGTCACTGTGTTCTGCTGC -3'

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

Posted On

2016-07-22