Mutagenetix > Incidental Mutation

Incidental Mutation 'R0565:Ethe1'

46122

Institutional Source

Beutler Lab

Gene Symbol

Ethe1

Ensembl Gene

ENSMUSG00000064254

Gene Name

ethylmalonic encephalopathy 1

Synonyms

0610025L15Rik

MMRRC Submission

038756-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.637) question?

Stock #

R0565 (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 24307314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 176 (H176R)

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: H176R

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

SMART Domains

Protein: ENSMUSP00000076433
Gene: ENSMUSG00000064254
AA Change: H176R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206422

Meta Mutation Damage Score

0.0626

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.6%

Validation Efficiency

100% (73/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,682,200 (GRCm39)	H1010L	probably benign	Het
A2ml1	C	A	6: 128,545,706 (GRCm39)	E474*	probably null	Het
Agtr1b	T	C	3: 20,369,838 (GRCm39)	H256R	probably damaging	Het
Amacr	C	T	15: 10,982,032 (GRCm39)	A46V	possibly damaging	Het
Atosb	A	T	4: 43,034,647 (GRCm39)		probably benign	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Caskin2	T	C	11: 115,691,842 (GRCm39)	E981G	probably damaging	Het
Ccdc88a	A	G	11: 29,411,042 (GRCm39)		probably benign	Het
Cd180	A	G	13: 102,839,382 (GRCm39)		probably benign	Het
Cd200l1	T	A	16: 45,264,536 (GRCm39)		probably benign	Het
Cemip	G	A	7: 83,613,318 (GRCm39)	H627Y	probably damaging	Het
Cep131	G	T	11: 119,964,588 (GRCm39)	H289Q	probably damaging	Het
Cep350	G	A	1: 155,836,941 (GRCm39)		probably benign	Het
Cfap52	A	T	11: 67,840,425 (GRCm39)	C169S	probably benign	Het
Cps1	A	T	1: 67,205,608 (GRCm39)	T544S	possibly damaging	Het
Cul7	T	C	17: 46,962,929 (GRCm39)	S187P	probably damaging	Het
Dhx40	C	A	11: 86,661,993 (GRCm39)	R688L	probably damaging	Het
E330034G19Rik	C	A	14: 24,356,985 (GRCm39)	Q174K	probably benign	Het
Efna5	T	C	17: 63,188,031 (GRCm39)	Y32C	probably damaging	Het
Exoc3	A	G	13: 74,330,394 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,362,686 (GRCm39)	N232Y	possibly damaging	Het
Fndc9	C	T	11: 46,128,984 (GRCm39)	L168F	probably damaging	Het
Fpr-rs3	G	A	17: 20,844,283 (GRCm39)	A286V	probably damaging	Het
Immt	T	A	6: 71,823,467 (GRCm39)		probably benign	Het
Ipo7	T	C	7: 109,648,800 (GRCm39)		probably benign	Het
Ipo8	A	T	6: 148,688,221 (GRCm39)	L747H	probably damaging	Het
Ireb2	A	T	9: 54,807,267 (GRCm39)	N610Y	probably damaging	Het
Irs2	A	G	8: 11,054,592 (GRCm39)	V1280A	probably damaging	Het
Kcnj3	T	A	2: 55,485,276 (GRCm39)	M458K	probably benign	Het
Kl	A	G	5: 150,904,409 (GRCm39)	K387R	possibly damaging	Het
L3mbtl2	C	A	15: 81,568,487 (GRCm39)		probably benign	Het
Lamb1	A	C	12: 31,348,914 (GRCm39)	I649L	probably benign	Het
Lipm	A	C	19: 34,093,906 (GRCm39)	L274F	probably benign	Het
Lrfn3	A	G	7: 30,060,216 (GRCm39)	V3A	probably benign	Het
Lrrc8c	A	C	5: 105,754,894 (GRCm39)	D223A	probably damaging	Het
Ltn1	C	A	16: 87,212,898 (GRCm39)	K554N	probably benign	Het
Mertk	T	C	2: 128,613,403 (GRCm39)	I473T	probably benign	Het
Mfsd12	C	A	10: 81,197,243 (GRCm39)	N245K	probably benign	Het
Mmp16	A	G	4: 17,987,705 (GRCm39)	D89G	probably damaging	Het
Myo5a	T	A	9: 75,087,394 (GRCm39)	N1083K	probably benign	Het
Ncapd3	C	T	9: 26,999,294 (GRCm39)	A1290V	probably benign	Het
Nefm	A	G	14: 68,362,070 (GRCm39)	S65P	probably damaging	Het
Nt5c2	C	T	19: 46,886,064 (GRCm39)	R220H	probably damaging	Het
Or4c102	T	A	2: 88,422,353 (GRCm39)	D68E	probably benign	Het
Osbpl1a	A	T	18: 12,892,501 (GRCm39)	S438R	probably damaging	Het
Pcdhb5	T	C	18: 37,453,820 (GRCm39)	S67P	possibly damaging	Het
Per3	A	T	4: 151,118,409 (GRCm39)	I228N	probably damaging	Het
Pnpla7	T	G	2: 24,870,129 (GRCm39)		probably benign	Het
Ppp1r15b	G	T	1: 133,064,391 (GRCm39)		probably benign	Het
Psmd2	G	T	16: 20,479,176 (GRCm39)	L678F	probably null	Het
Ptch2	A	G	4: 116,963,340 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,312,158 (GRCm39)	D959E	probably benign	Het
Rph3al	C	T	11: 75,724,227 (GRCm39)		probably null	Het
Sec31b	T	A	19: 44,512,992 (GRCm39)	E499V	probably damaging	Het
Sel1l	T	C	12: 91,778,663 (GRCm39)	I667M	probably benign	Het
Sel1l	C	A	12: 91,780,719 (GRCm39)	V641L	possibly damaging	Het
Slc7a1	T	A	5: 148,288,879 (GRCm39)	I123F	probably damaging	Het
Smarca2	G	A	19: 26,659,275 (GRCm39)	R855Q	possibly damaging	Het
Sphk1	G	T	11: 116,427,184 (GRCm39)		probably benign	Het
Spink12	C	A	18: 44,237,755 (GRCm39)	S11*	probably null	Het
Sstr2	A	T	11: 113,516,445 (GRCm39)	I342F	probably benign	Het
Stxbp1	T	C	2: 32,709,860 (GRCm39)	T78A	probably benign	Het
Trim11	T	A	11: 58,881,410 (GRCm39)	S434R	probably damaging	Het
Ubr2	T	C	17: 47,266,812 (GRCm39)	E1113G	probably damaging	Het
Upb1	T	A	10: 75,264,188 (GRCm39)		probably benign	Het
Vit	T	A	17: 78,932,266 (GRCm39)	C458S	probably damaging	Het
Vmn1r58	T	C	7: 5,414,165 (GRCm39)	I22V	probably benign	Het
Vps25	T	C	11: 101,149,731 (GRCm39)		probably benign	Het
Wbp2	G	T	11: 115,973,211 (GRCm39)	D65E	possibly damaging	Het
Wdr72	A	G	9: 74,124,588 (GRCm39)	D980G	probably benign	Het
Xkr8	A	C	4: 132,458,228 (GRCm39)		probably null	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
R1734:Ethe1	UTSW	7	24,307,809 (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'- GCTCTCAGCCAGACCTAATGGAATC -3'
(R):5'- GCCCAAGCACATAATCTTTTCAGCC -3'

Sequencing Primer
(F):5'- TGGAATCACAAATTACCCAAATGG -3'
(R):5'- GCACATAATCTTTTCAGCCACAGG -3'

Posted On

2013-06-11