Mutagenetix > Incidental Mutation

Incidental Mutation 'R1734:Ethe1'

199566

Institutional Source

Beutler Lab

Gene Symbol

Ethe1

Ensembl Gene

ENSMUSG00000064254

Gene Name

ethylmalonic encephalopathy 1

Synonyms

0610025L15Rik

MMRRC Submission

039766-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.606) question?

Stock #

R1734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24286968-24308350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24307809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 210 (T210A)

Ref Sequence

ENSEMBL: ENSMUSP00000076433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073325] [ENSMUST00000077191] [ENSMUST00000206422]

AlphaFold

Q9DCM0

Predicted Effect

probably benign
Transcript: ENSMUST00000073325

SMART Domains

Protein: ENSMUSP00000073047
Gene: ENSMUSG00000074277

Domain	Start	End	E-Value	Type
low complexity region	34	47	N/A	INTRINSIC
low complexity region	61	74	N/A	INTRINSIC
coiled coil region	111	302	N/A	INTRINSIC
low complexity region	364	374	N/A	INTRINSIC
Blast:PH	389	447	2e-29	BLAST
Blast:PH	457	488	4e-6	BLAST
low complexity region	490	514	N/A	INTRINSIC
PH	541	645	1.54e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077191
AA Change: T210A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000076433
Gene: ENSMUSG00000064254
AA Change: T210A

Domain	Start	End	E-Value	Type
Lactamase_B	34	195	1.05e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000206422

Meta Mutation Damage Score

0.0581

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (59/60)

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 metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null mutation display premature death with elevated levels of hydrogen sulfide and thiosulfates. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,596 (GRCm39)	C379S	probably benign	Het
Abca13	T	C	11: 9,535,460 (GRCm39)	C4695R	probably benign	Het
Actr10	T	A	12: 71,008,770 (GRCm39)	V401E	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,380,557 (GRCm39)	I59K	probably damaging	Het
Alms1	T	A	6: 85,618,532 (GRCm39)		probably null	Het
Anln	A	T	9: 22,262,251 (GRCm39)	S947T	possibly damaging	Het
Atp2c1	T	C	9: 105,291,854 (GRCm39)	T733A	probably damaging	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Cblb	T	C	16: 52,006,603 (GRCm39)		probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chac1	A	T	2: 119,183,939 (GRCm39)	L180F	probably damaging	Het
Cherp	A	T	8: 73,223,932 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,363,738 (GRCm39)	S442P	probably benign	Het
Clstn3	G	A	6: 124,413,773 (GRCm39)		probably benign	Het
Crb2	T	A	2: 37,683,668 (GRCm39)	C1057S	probably damaging	Het
Dact2	T	C	17: 14,416,901 (GRCm39)	D433G	probably benign	Het
Dnah6	G	A	6: 73,021,744 (GRCm39)	T3526M	probably damaging	Het
Fat2	A	G	11: 55,172,197 (GRCm39)	S2839P	probably benign	Het
Fbxl7	T	C	15: 26,543,735 (GRCm39)	Y304C	probably damaging	Het
Gad1-ps	A	T	10: 99,281,637 (GRCm39)		noncoding transcript	Het
Grm3	C	T	5: 9,639,742 (GRCm39)	R101K	probably benign	Het
Hspa12b	A	G	2: 130,980,456 (GRCm39)	Y125C	possibly damaging	Het
Il10ra	T	C	9: 45,167,241 (GRCm39)	T437A	probably benign	Het
Itprid2	G	A	2: 79,488,166 (GRCm39)	V750M	probably damaging	Het
Jcad	T	C	18: 4,674,526 (GRCm39)	F763L	probably damaging	Het
Map3k10	T	C	7: 27,357,540 (GRCm39)	D746G	probably damaging	Het
Mettl9	T	A	7: 120,647,064 (GRCm39)	Y57N	probably damaging	Het
Nav2	G	A	7: 49,225,468 (GRCm39)	E1803K	probably damaging	Het
Nol11	G	A	11: 107,066,449 (GRCm39)	S447L	possibly damaging	Het
Or14a256	C	T	7: 86,265,425 (GRCm39)	V143M	probably benign	Het
Osbpl1a	T	C	18: 12,921,373 (GRCm39)		probably null	Het
Pde6a	A	G	18: 61,419,036 (GRCm39)	N804S	probably damaging	Het
Pepd	A	T	7: 34,730,851 (GRCm39)	D301V	probably benign	Het
Piwil2	A	T	14: 70,663,954 (GRCm39)		probably null	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prrc2a	A	G	17: 35,369,683 (GRCm39)	S1877P	possibly damaging	Het
Retreg2	G	T	1: 75,119,630 (GRCm39)		probably null	Het
Slc7a11	G	A	3: 50,326,795 (GRCm39)	Q489*	probably null	Het
Sned1	G	A	1: 93,187,490 (GRCm39)	D256N	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Spmip9	T	A	6: 70,890,645 (GRCm39)	Q49L	probably benign	Het
Syce2	G	A	8: 85,613,776 (GRCm39)	E168K	probably benign	Het
Tmem260	G	T	14: 48,746,550 (GRCm39)	V609L	probably benign	Het
Trim35	A	G	14: 66,546,778 (GRCm39)	D515G	probably damaging	Het
Tspan5	T	C	3: 138,603,901 (GRCm39)	Y131H	probably damaging	Het
Ttbk2	T	C	2: 120,586,319 (GRCm39)	I466V	probably benign	Het
Ttn	T	C	2: 76,576,157 (GRCm39)	D24912G	probably damaging	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vmn1r20	A	G	6: 57,409,285 (GRCm39)	R204G	probably damaging	Het
Vps18	A	T	2: 119,124,423 (GRCm39)	Q450L	probably benign	Het
Zbtb4	A	G	11: 69,667,289 (GRCm39)	E198G	probably benign	Het

Other mutations in Ethe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01779:Ethe1	APN	7	24,294,434 (GRCm39)	missense	probably damaging	1.00
nutriceutical	UTSW	7	24,294,496 (GRCm39)	missense	probably damaging	1.00
R0565:Ethe1	UTSW	7	24,307,314 (GRCm39)	missense	probably benign	0.00
R1757:Ethe1	UTSW	7	24,307,899 (GRCm39)	unclassified	probably benign
R1774:Ethe1	UTSW	7	24,293,371 (GRCm39)	missense	probably benign	0.01
R4662:Ethe1	UTSW	7	24,293,405 (GRCm39)	missense	probably benign	0.00
R4676:Ethe1	UTSW	7	24,307,319 (GRCm39)	missense	probably damaging	1.00
R7286:Ethe1	UTSW	7	24,307,377 (GRCm39)	missense	probably damaging	1.00
R7424:Ethe1	UTSW	7	24,305,676 (GRCm39)	missense	probably damaging	1.00
R8808:Ethe1	UTSW	7	24,294,496 (GRCm39)	missense	probably damaging	1.00
R8817:Ethe1	UTSW	7	24,305,727 (GRCm39)	missense	probably damaging	1.00
R8962:Ethe1	UTSW	7	24,305,682 (GRCm39)	missense	probably damaging	0.99
R9114:Ethe1	UTSW	7	24,305,643 (GRCm39)	missense	probably benign	0.01
R9570:Ethe1	UTSW	7	24,293,236 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGGACACCTTCTCTGGACCATTC -3'
(R):5'- CCACAGCGCATATTTGCAGGAAC -3'

Sequencing Primer
(F):5'- TTCAGGGAAGGGCCAGTTC -3'
(R):5'- GGACGATAGTTCTAGCCCTAAGTC -3'

Posted On

2014-05-23