Incidental Mutation 'R0667:Mgme1'
ID 62056
Institutional Source Beutler Lab
Gene Symbol Mgme1
Ensembl Gene ENSMUSG00000027424
Gene Name mitochondrial genome maintenance exonuclease 1
Synonyms 8430406I07Rik
MMRRC Submission 038852-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0667 (G1)
Quality Score 112
Status Validated
Chromosome 2
Chromosomal Location 144112824-144123147 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 144120907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028910] [ENSMUST00000110027] [ENSMUST00000110028]
AlphaFold Q9CXC3
Predicted Effect probably benign
Transcript: ENSMUST00000028910
SMART Domains Protein: ENSMUSP00000028910
Gene: ENSMUSG00000027424

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

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

DomainStartEndE-ValueType
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
Abca5 G T 11: 110,218,637 (GRCm39) N76K probably benign Het
Adamts12 C T 15: 11,215,710 (GRCm39) R244C probably damaging Het
Atad2 A G 15: 57,962,115 (GRCm39) S1143P probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Cand1 A G 10: 119,052,425 (GRCm39) S234P probably benign Het
Cd200 T A 16: 45,215,220 (GRCm39) I144L probably benign Het
Cep76 A T 18: 67,767,848 (GRCm39) L228Q possibly damaging Het
Col12a1 A G 9: 79,535,744 (GRCm39) L2584S probably damaging Het
Col6a3 A C 1: 90,755,823 (GRCm39) D155E probably damaging Het
Col6a4 G A 9: 105,907,158 (GRCm39) probably benign Het
Dsg2 A C 18: 20,706,556 (GRCm39) D24A possibly damaging Het
Gm5901 G A 7: 105,026,697 (GRCm39) S155N possibly damaging Het
Hkdc1 T C 10: 62,247,644 (GRCm39) probably benign Het
Kansl1 A G 11: 104,234,364 (GRCm39) V714A probably benign Het
Kcnh1 T A 1: 192,188,346 (GRCm39) S936T probably benign Het
Klhdc3 A T 17: 46,988,151 (GRCm39) F205I probably benign Het
Krt31 T A 11: 99,938,951 (GRCm39) H290L probably benign Het
Lama2 T A 10: 27,220,406 (GRCm39) probably null Het
Mep1a T G 17: 43,789,081 (GRCm39) D565A probably benign Het
Mtf2 C T 5: 108,252,369 (GRCm39) T409I probably damaging Het
Mylk3 A G 8: 86,081,794 (GRCm39) probably null Het
Myo1c A G 11: 75,559,338 (GRCm39) E650G probably damaging Het
Nipbl A C 15: 8,390,488 (GRCm39) D260E possibly damaging Het
Nufip2 T A 11: 77,582,839 (GRCm39) V251D possibly damaging Het
Or2n1e C A 17: 38,586,048 (GRCm39) P129T probably damaging Het
Or4a2 T C 2: 89,248,032 (GRCm39) I242V probably benign Het
Or7g35 T A 9: 19,496,743 (GRCm39) N303K probably benign Het
Osm G T 11: 4,189,918 (GRCm39) R234L possibly damaging Het
Pabpc1 G A 15: 36,598,275 (GRCm39) A515V probably benign Het
Piwil1 T A 5: 128,818,542 (GRCm39) probably null Het
Pld1 A G 3: 28,133,327 (GRCm39) probably null Het
Plekhg3 C T 12: 76,623,372 (GRCm39) R871C probably damaging Het
Ppfia2 A T 10: 106,749,555 (GRCm39) Y1147F probably damaging Het
Prmt3 A G 7: 49,441,743 (GRCm39) Y240C probably damaging Het
Prr36 G T 8: 4,266,311 (GRCm39) probably benign Het
Ptprd A G 4: 75,875,583 (GRCm39) I908T probably damaging Het
Sae1 A T 7: 16,102,457 (GRCm39) N172K probably damaging Het
Satb1 T G 17: 52,089,889 (GRCm39) Q319H probably damaging Het
Scart2 C G 7: 139,841,450 (GRCm39) S251R possibly damaging Het
Scn2a A T 2: 65,582,340 (GRCm39) I1563F possibly damaging Het
Scn3a C A 2: 65,314,755 (GRCm39) R1102L probably null Het
Serpinb9b T A 13: 33,216,909 (GRCm39) L60* probably null Het
Setd1a A G 7: 127,385,765 (GRCm39) D281G probably damaging Het
Slc8a1 C A 17: 81,956,310 (GRCm39) V243F probably damaging Het
Tgfbr3 A T 5: 107,325,716 (GRCm39) H115Q probably benign Het
Tiam1 C A 16: 89,694,872 (GRCm39) S195I probably damaging Het
Tjp2 A G 19: 24,086,113 (GRCm39) V803A probably benign Het
Ttc5 T A 14: 51,003,415 (GRCm39) Q423L probably benign Het
Tyk2 A C 9: 21,020,167 (GRCm39) V997G probably damaging Het
Uhrf1 T C 17: 56,617,677 (GRCm39) V133A probably benign Het
Vmn2r107 A C 17: 20,575,916 (GRCm39) Y82S possibly damaging Het
Vmn2r93 T C 17: 18,546,503 (GRCm39) F792L probably damaging Het
Vps13c G A 9: 67,858,855 (GRCm39) W2768* probably null Het
Zfp456 A T 13: 67,514,861 (GRCm39) C282S probably benign Het
Zhx1 T C 15: 57,916,561 (GRCm39) N562D possibly damaging Het
Zmynd15 G T 11: 70,355,944 (GRCm39) G481C probably damaging Het
Other mutations in Mgme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Mgme1 APN 2 144,121,056 (GRCm39) splice site probably benign
IGL00465:Mgme1 APN 2 144,121,436 (GRCm39) missense probably damaging 0.98
IGL00585:Mgme1 APN 2 144,113,909 (GRCm39) missense probably benign 0.00
R0352:Mgme1 UTSW 2 144,118,319 (GRCm39) missense probably benign 0.00
R1635:Mgme1 UTSW 2 144,121,018 (GRCm39) missense possibly damaging 0.46
R1718:Mgme1 UTSW 2 144,114,238 (GRCm39) missense probably benign 0.03
R1839:Mgme1 UTSW 2 144,121,407 (GRCm39) missense probably benign 0.07
R4965:Mgme1 UTSW 2 144,121,540 (GRCm39) missense probably benign
R4965:Mgme1 UTSW 2 144,118,324 (GRCm39) nonsense probably null
R6866:Mgme1 UTSW 2 144,118,439 (GRCm39) missense probably damaging 1.00
R7087:Mgme1 UTSW 2 144,114,101 (GRCm39) missense probably damaging 0.97
R8805:Mgme1 UTSW 2 144,114,451 (GRCm39) unclassified probably benign
R9145:Mgme1 UTSW 2 144,114,405 (GRCm39) critical splice donor site probably null
R9502:Mgme1 UTSW 2 144,114,156 (GRCm39) missense probably benign 0.06
Z1177:Mgme1 UTSW 2 144,118,396 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCATGCCCAGTCCCATCTATC -3'
(R):5'- ACAACCAGCTTATCACGCAGGAG -3'

Sequencing Primer
(F):5'- agccatctcaccagccc -3'
(R):5'- GCTCATGTTCTGACCTGAAAACTG -3'
Posted On 2013-07-30