Incidental Mutation 'R0667:Mgme1'
Institutional Source Beutler Lab
Gene Symbol Mgme1
Ensembl Gene ENSMUSG00000027424
Gene Namemitochondrial genome maintenance exonuclease 1
MMRRC Submission 038852-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0667 (G1)
Quality Score112
Status Validated
Chromosomal Location144270663-144281227 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 144278987 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028910] [ENSMUST00000110027] [ENSMUST00000110028]
Predicted Effect probably benign
Transcript: ENSMUST00000028910
SMART Domains Protein: ENSMUSP00000028910
Gene: ENSMUSG00000027424

Pfam:PDDEXK_1 30 336 4.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110027
SMART Domains Protein: ENSMUSP00000105654
Gene: ENSMUSG00000027424

Pfam:PDDEXK_1 189 333 5.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110028
SMART Domains Protein: ENSMUSP00000105655
Gene: ENSMUSG00000027424

Pfam:PDDEXK_1 30 336 4.7e-12 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik C G 7: 140,261,537 S251R possibly damaging Het
Abca5 G T 11: 110,327,811 N76K probably benign Het
Adamts12 C T 15: 11,215,624 R244C probably damaging Het
Atad2 A G 15: 58,098,719 S1143P probably benign Het
Avl9 G T 6: 56,736,483 R242L probably benign Het
Cand1 A G 10: 119,216,520 S234P probably benign Het
Cd200 T A 16: 45,394,857 I144L probably benign Het
Cep76 A T 18: 67,634,778 L228Q possibly damaging Het
Col12a1 A G 9: 79,628,462 L2584S probably damaging Het
Col6a3 A C 1: 90,828,101 D155E probably damaging Het
Col6a4 G A 9: 106,029,959 probably benign Het
Dsg2 A C 18: 20,573,499 D24A possibly damaging Het
Gm5901 G A 7: 105,377,490 S155N possibly damaging Het
Hkdc1 T C 10: 62,411,865 probably benign Het
Kansl1 A G 11: 104,343,538 V714A probably benign Het
Kcnh1 T A 1: 192,506,038 S936T probably benign Het
Klhdc3 A T 17: 46,677,225 F205I probably benign Het
Krt31 T A 11: 100,048,125 H290L probably benign Het
Lama2 T A 10: 27,344,410 probably null Het
Mep1a T G 17: 43,478,190 D565A probably benign Het
Mtf2 C T 5: 108,104,503 T409I probably damaging Het
Mylk3 A G 8: 85,355,165 probably null Het
Myo1c A G 11: 75,668,512 E650G probably damaging Het
Nipbl A C 15: 8,361,004 D260E possibly damaging Het
Nufip2 T A 11: 77,692,013 V251D possibly damaging Het
Olfr1239 T C 2: 89,417,688 I242V probably benign Het
Olfr138 C A 17: 38,275,157 P129T probably damaging Het
Olfr855 T A 9: 19,585,447 N303K probably benign Het
Osm G T 11: 4,239,918 R234L possibly damaging Het
Pabpc1 G A 15: 36,598,031 A515V probably benign Het
Piwil1 T A 5: 128,741,478 probably null Het
Pld1 A G 3: 28,079,178 probably null Het
Plekhg3 C T 12: 76,576,598 R871C probably damaging Het
Ppfia2 A T 10: 106,913,694 Y1147F probably damaging Het
Prmt3 A G 7: 49,791,995 Y240C probably damaging Het
Prr36 G T 8: 4,216,311 probably benign Het
Ptprd A G 4: 75,957,346 I908T probably damaging Het
Sae1 A T 7: 16,368,532 N172K probably damaging Het
Satb1 T G 17: 51,782,861 Q319H probably damaging Het
Scn2a A T 2: 65,751,996 I1563F possibly damaging Het
Scn3a C A 2: 65,484,411 R1102L probably null Het
Serpinb9b T A 13: 33,032,926 L60* probably null Het
Setd1a A G 7: 127,786,593 D281G probably damaging Het
Slc8a1 C A 17: 81,648,881 V243F probably damaging Het
Tgfbr3 A T 5: 107,177,850 H115Q probably benign Het
Tiam1 C A 16: 89,897,984 S195I probably damaging Het
Tjp2 A G 19: 24,108,749 V803A probably benign Het
Ttc5 T A 14: 50,765,958 Q423L probably benign Het
Tyk2 A C 9: 21,108,871 V997G probably damaging Het
Uhrf1 T C 17: 56,310,677 V133A probably benign Het
Vmn2r107 A C 17: 20,355,654 Y82S possibly damaging Het
Vmn2r93 T C 17: 18,326,241 F792L probably damaging Het
Vps13c G A 9: 67,951,573 W2768* probably null Het
Zfp456 A T 13: 67,366,742 C282S probably benign Het
Zhx1 T C 15: 58,053,165 N562D possibly damaging Het
Zmynd15 G T 11: 70,465,118 G481C probably damaging Het
Other mutations in Mgme1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- agccatctcaccagccc -3'
Posted On2013-07-30