Mutagenetix > Incidental Mutation

Incidental Mutation 'R8805:Mgme1'

686580

Institutional Source

Beutler Lab

Gene Symbol

Mgme1

Ensembl Gene

ENSMUSG00000027424

Gene Name

mitochondrial genome maintenance exonuclease 1

Synonyms

8430406I07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144270663-144281227 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 144272531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028909] [ENSMUST00000028910] [ENSMUST00000110027] [ENSMUST00000110028] [ENSMUST00000110030]

AlphaFold

Q9CXC3

Predicted Effect

probably benign
Transcript: ENSMUST00000028909

SMART Domains

Protein: ENSMUSP00000028909
Gene: ENSMUSG00000027423

Domain	Start	End	E-Value	Type
PX	31	169	1.85e-2	SMART
Pfam:Vps5	179	398	6.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000028910

SMART Domains

Protein: ENSMUSP00000028910
Gene: ENSMUSG00000027424

Domain	Start	End	E-Value	Type
Pfam:PDDEXK_1	30	336	4.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110027

SMART Domains

Protein: ENSMUSP00000105654
Gene: ENSMUSG00000027424

Domain	Start	End	E-Value	Type
Pfam:PDDEXK_1	189	333	5.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110028

SMART Domains

Protein: ENSMUSP00000105655
Gene: ENSMUSG00000027424

Domain	Start	End	E-Value	Type
Pfam:PDDEXK_1	30	336	4.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110030

SMART Domains

Protein: ENSMUSP00000105657
Gene: ENSMUSG00000027423

Domain	Start	End	E-Value	Type
PX	31	169	1.85e-2	SMART
Pfam:Vps5	179	398	1.7e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit depletion and deletion of mitochondrial DNA, reduced mitochondrial transcription and mild anemia without developing progeria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,007,905	W467*	probably null	Het
4921509C19Rik	A	T	2: 151,471,365		probably benign	Het
Actl6b	G	A	5: 137,554,656	M82I	probably benign	Het
Bmp2	T	A	2: 133,561,334	D268E	probably damaging	Het
C530008M17Rik	T	C	5: 76,858,642	V950A	unknown	Het
Cacng7	T	A	7: 3,366,782	L221H	probably damaging	Het
Ccser2	A	G	14: 36,879,755	V224A	probably damaging	Het
Cdc40	A	G	10: 40,857,580	F125L	probably damaging	Het
Cfap46	C	T	7: 139,632,063	A1669T	unknown	Het
Cfap58	A	T	19: 47,953,096	E301V	probably damaging	Het
Clcn2	C	A	16: 20,713,418	G96C	probably damaging	Het
Cotl1	T	A	8: 119,810,205		probably benign	Het
Cps1	G	A	1: 67,176,951	A812T	probably damaging	Het
Crnkl1	T	C	2: 145,931,430		probably null	Het
Cry1	A	G	10: 85,157,105	V83A	probably benign	Het
Cyp2a5	G	T	7: 26,841,105	R381L	probably damaging	Het
Cyp46a1	T	C	12: 108,361,203	F425L	probably damaging	Het
Dek	A	T	13: 47,099,454	N158K	unknown	Het
Dgcr8	T	A	16: 18,258,297	Q674L	probably damaging	Het
Dlec1	C	A	9: 119,112,582	S345R	probably benign	Het
Dnah7b	T	A	1: 46,234,145	C2478S	possibly damaging	Het
Dstyk	T	A	1: 132,434,225	L131Q	probably damaging	Het
Fbxw7	T	A	3: 84,954,920	L186M		Het
Fn1	T	C	1: 71,605,080	Q1684R	probably benign	Het
Fsip2	C	A	2: 82,983,109	H3257Q	possibly damaging	Het
Gm5773	T	C	3: 93,773,735	V238A	probably damaging	Het
Gm9611	T	C	14: 42,294,700	D131G		Het
Gpatch8	T	C	11: 102,480,192	E840G	unknown	Het
Grm5	G	A	7: 87,803,968	R271Q	probably damaging	Het
Has3	A	T	8: 106,874,503	Y199F	probably damaging	Het
Hmcn2	A	G	2: 31,425,381	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Il2	T	A	3: 37,123,133	T85S	possibly damaging	Het
Kank4	T	C	4: 98,780,036	H58R	possibly damaging	Het
Kcnk4	T	A	19: 6,928,011	I154F	probably damaging	Het
Krt2	T	C	15: 101,815,944	K295R	possibly damaging	Het
Lipm	A	T	19: 34,112,908	D163V	probably damaging	Het
Lpl	A	G	8: 68,887,563	N70S	probably damaging	Het
Mnd1	T	A	3: 84,088,125	E187D	probably benign	Het
Morn5	A	G	2: 36,079,521	D149G	probably benign	Het
Mrrf	G	A	2: 36,147,953	V79I	probably damaging	Het
Msh4	T	A	3: 153,857,633	Q896L	probably benign	Het
Mtus2	A	C	5: 148,078,493	M699L	possibly damaging	Het
Mycbp	T	A	4: 123,910,087	C130S	unknown	Het
Ntn5	A	T	7: 45,684,475	Y4F	probably benign	Het
Olfr868	T	C	9: 20,101,284	V175A	probably benign	Het
Osm	A	G	11: 4,239,839	S208G	probably benign	Het
Pcsk6	T	A	7: 65,929,143	Y222N	possibly damaging	Het
Pde6a	A	G	18: 61,257,033	E486G	probably benign	Het
Pdzk1	T	A	3: 96,851,594	L105Q	possibly damaging	Het
Prkd1	C	G	12: 50,388,372	S524T	probably benign	Het
Prkd1	T	A	12: 50,388,373	S524C	probably damaging	Het
Rab4b	T	C	7: 27,174,723	I90V		Het
Rc3h1	T	C	1: 160,967,652	V1083A	probably benign	Het
Rfx7	C	T	9: 72,617,034	T502I	probably benign	Het
Rtn4rl2	T	C	2: 84,872,214	Y332C	probably damaging	Het
Senp2	A	G	16: 22,028,039	T265A	probably benign	Het
Slc38a3	T	C	9: 107,655,146	M396V	probably benign	Het
Sord	G	A	2: 122,264,126	V332I	probably benign	Het
Sprr1b	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	3: 92,437,346		probably benign	Het
Star	G	A	8: 25,809,549	R53H	probably benign	Het
Stard4	T	G	18: 33,203,696	I189L	possibly damaging	Het
Stk38	G	T	17: 29,000,120	T7K	probably benign	Het
Stxbp5	T	A	10: 9,838,115	K227*	probably null	Het
Taf4b	C	T	18: 14,813,428	P436L	possibly damaging	Het
Tgm3	T	A	2: 130,047,782	V632E	probably damaging	Het
Tmem158	A	G	9: 123,260,244	F101S	probably damaging	Het
Trmt10b	T	C	4: 45,301,281	S77P	probably benign	Het
Ttn	A	T	2: 76,889,963	L6973*	probably null	Het
Tubal3	T	C	13: 3,933,293	F358L	probably damaging	Het
Vmn1r214	C	T	13: 23,035,103	L256F	possibly damaging	Het
Vmn2r86	A	G	10: 130,446,527	V740A	probably benign	Het
Yipf1	A	T	4: 107,336,158	E80D	probably benign	Het
Zcchc11	T	C	4: 108,549,378	V1381A	possibly damaging	Het
Zdhhc2	G	T	8: 40,445,805		probably null	Het
Zfp655	C	T	5: 145,244,480	H383Y	probably damaging	Het
Zfp981	C	T	4: 146,537,953	T445I	possibly damaging	Het

Other mutations in Mgme1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Mgme1	APN	2	144279136	splice site	probably benign
IGL00465:Mgme1	APN	2	144279516	missense	probably damaging	0.98
IGL00585:Mgme1	APN	2	144271989	missense	probably benign	0.00
R0352:Mgme1	UTSW	2	144276399	missense	probably benign	0.00
R0667:Mgme1	UTSW	2	144278987	splice site	probably benign
R1635:Mgme1	UTSW	2	144279098	missense	possibly damaging	0.46
R1718:Mgme1	UTSW	2	144272318	missense	probably benign	0.03
R1839:Mgme1	UTSW	2	144279487	missense	probably benign	0.07
R4965:Mgme1	UTSW	2	144276404	nonsense	probably null
R4965:Mgme1	UTSW	2	144279620	missense	probably benign
R6866:Mgme1	UTSW	2	144276519	missense	probably damaging	1.00
R7087:Mgme1	UTSW	2	144272181	missense	probably damaging	0.97
R9145:Mgme1	UTSW	2	144272485	critical splice donor site	probably null
R9502:Mgme1	UTSW	2	144272236	missense	probably benign	0.06
Z1177:Mgme1	UTSW	2	144276476	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAACTCGATACCCAGTGTG -3'
(R):5'- GGTAACCATTACATTCTGAGCAAG -3'

Sequencing Primer
(F):5'- AGTGTGACCCGCATCCTTCAG -3'
(R):5'- GGTGGCACATACCTGTAATCTCAG -3'

Posted On

2021-11-17