Incidental Mutation 'IGL00434:Mgme1'
ID 7006
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgme1
Ensembl Gene ENSMUSG00000027424
Gene Name mitochondrial genome maintenance exonuclease 1
Synonyms 8430406I07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00434
Quality Score
Status
Chromosome 2
Chromosomal Location 144112824-144123147 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 144121056 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
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 T C 15: 96,269,181 (GRCm39) V1098A probably damaging Het
Bltp1 T C 3: 37,041,448 (GRCm39) F2609L probably damaging Het
Ccdc126 C T 6: 49,311,239 (GRCm39) probably benign Het
Cds2 T C 2: 132,135,271 (GRCm39) L54P probably damaging Het
Cdsn A T 17: 35,865,740 (GRCm39) S90C unknown Het
Clcn6 G T 4: 148,098,195 (GRCm39) D581E probably damaging Het
Clec4f T A 6: 83,630,198 (GRCm39) H120L possibly damaging Het
Col12a1 T C 9: 79,560,614 (GRCm39) T1838A probably benign Het
Col22a1 T C 15: 71,878,524 (GRCm39) D211G possibly damaging Het
Cpne8 T C 15: 90,381,261 (GRCm39) probably benign Het
Dgkk T A X: 6,772,697 (GRCm39) M462K probably benign Het
Dhx29 T A 13: 113,091,759 (GRCm39) H834Q probably benign Het
Esyt1 A G 10: 128,353,504 (GRCm39) Y578H possibly damaging Het
Fnip2 C A 3: 79,419,796 (GRCm39) probably benign Het
Fut1 T G 7: 45,268,855 (GRCm39) C270G probably damaging Het
Ganab T A 19: 8,884,707 (GRCm39) V170D probably damaging Het
Gys1 T A 7: 45,094,256 (GRCm39) M364K possibly damaging Het
Ighv1-85 A C 12: 115,963,654 (GRCm39) C115W probably damaging Het
Igkv4-74 T G 6: 69,162,044 (GRCm39) T42P probably damaging Het
Jmjd4 A G 11: 59,341,321 (GRCm39) Y84C probably damaging Het
Kif11 A C 19: 37,399,857 (GRCm39) E781D possibly damaging Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Klf1 C T 8: 85,628,628 (GRCm39) P9S possibly damaging Het
Lrrn3 T C 12: 41,502,191 (GRCm39) probably benign Het
Ltbp4 C A 7: 27,028,230 (GRCm39) R309L probably damaging Het
Marchf10 T C 11: 105,293,014 (GRCm39) E131G possibly damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Nkiras2 G A 11: 100,515,808 (GRCm39) G45D probably damaging Het
Orc2 A T 1: 58,532,875 (GRCm39) D16E possibly damaging Het
Pcyox1l T C 18: 61,830,613 (GRCm39) T420A probably benign Het
Pira13 C A 7: 3,826,088 (GRCm39) G302C probably damaging Het
Pm20d1 A G 1: 131,741,738 (GRCm39) probably benign Het
Ppp1r3c T C 19: 36,711,503 (GRCm39) D89G probably damaging Het
Ppp2ca G A 11: 52,012,776 (GRCm39) R302H probably benign Het
Riok3 T C 18: 12,281,904 (GRCm39) V291A probably damaging Het
Rragd A G 4: 33,007,219 (GRCm39) probably benign Het
Scai C A 2: 38,998,406 (GRCm39) L174F probably damaging Het
Slc25a44 T C 3: 88,323,369 (GRCm39) I227V probably benign Het
Slc35f1 T C 10: 52,938,548 (GRCm39) L160P probably damaging Het
Slc38a1 A G 15: 96,483,504 (GRCm39) Y275H possibly damaging Het
Slco6b1 A G 1: 96,916,375 (GRCm39) noncoding transcript Het
Spag8 G T 4: 43,652,890 (GRCm39) C190* probably null Het
Tbr1 T C 2: 61,635,625 (GRCm39) F192L probably benign Het
Tti1 C T 2: 157,850,886 (GRCm39) E118K probably damaging Het
Tti1 T A 2: 157,850,885 (GRCm39) E118V probably damaging Het
Vcan G T 13: 89,852,821 (GRCm39) P713Q probably damaging Het
Vcf2 A T X: 149,181,395 (GRCm39) V132E possibly damaging Het
Wt1 G T 2: 104,974,486 (GRCm39) probably null Het
Xylt1 T A 7: 117,249,912 (GRCm39) I694N probably damaging Het
Zfp516 T A 18: 82,975,233 (GRCm39) M477K probably benign Het
Other mutations in Mgme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0667:Mgme1 UTSW 2 144,120,907 (GRCm39) splice site probably benign
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
Posted On 2012-04-20