Incidental Mutation 'IGL00585:Mgme1'
ID7007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgme1
Ensembl Gene ENSMUSG00000027424
Gene Namemitochondrial genome maintenance exonuclease 1
Synonyms8430406I07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL00585
Quality Score
Status
Chromosome2
Chromosomal Location144270663-144281227 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 144271989 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 4 (P4S)
Ref Sequence ENSEMBL: ENSMUSP00000105655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028909] [ENSMUST00000028910] [ENSMUST00000110027] [ENSMUST00000110028] [ENSMUST00000110030]
Predicted Effect probably benign
Transcript: ENSMUST00000028909
SMART Domains Protein: ENSMUSP00000028909
Gene: ENSMUSG00000027423

DomainStartEndE-ValueType
PX 31 169 1.85e-2 SMART
Pfam:Vps5 179 398 6.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028910
AA Change: P4S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028910
Gene: ENSMUSG00000027424
AA Change: P4S

DomainStartEndE-ValueType
Pfam:PDDEXK_1 30 336 4.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110027
AA Change: P4S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000105654
Gene: ENSMUSG00000027424
AA Change: P4S

DomainStartEndE-ValueType
Pfam:PDDEXK_1 189 333 5.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110028
AA Change: P4S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000105655
Gene: ENSMUSG00000027424
AA Change: P4S

DomainStartEndE-ValueType
Pfam:PDDEXK_1 30 336 4.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110030
SMART Domains Protein: ENSMUSP00000105657
Gene: ENSMUSG00000027423

DomainStartEndE-ValueType
PX 31 169 1.85e-2 SMART
Pfam:Vps5 179 398 1.7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155509
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,300,320 I664F probably damaging Het
Abcg4 A T 9: 44,281,623 M142K probably benign Het
Afdn A G 17: 13,884,628 T1198A probably damaging Het
Angptl2 T C 2: 33,246,227 S475P probably damaging Het
Ap3s2 T C 7: 79,916,076 E34G probably benign Het
C1qtnf9 T C 14: 60,779,993 F324S probably damaging Het
Cacng7 A G 7: 3,366,031 Y170C probably damaging Het
Ceacam18 G A 7: 43,637,011 V103M possibly damaging Het
Chrnb1 G A 11: 69,793,916 P144S probably damaging Het
Chuk T C 19: 44,078,312 H652R probably damaging Het
Ckap5 C T 2: 91,619,825 L1948F probably damaging Het
Clstn1 A T 4: 149,638,312 H469L probably benign Het
Csf2rb2 C T 15: 78,284,847 G594S possibly damaging Het
Ctsq A T 13: 61,037,127 D248E probably benign Het
Ep400 A T 5: 110,755,905 I276K possibly damaging Het
Gbf1 G A 19: 46,284,249 probably null Het
Gldn T A 9: 54,338,464 I433N probably damaging Het
Gm136 T A 4: 34,752,322 E69V probably damaging Het
Gm28177 T C 1: 52,082,579 probably null Het
Gtf2h2 A G 13: 100,480,998 probably benign Het
Ints12 T C 3: 133,100,809 probably null Het
Ltbp4 T C 7: 27,326,733 D615G probably damaging Het
Nae1 A G 8: 104,526,278 probably null Het
Nup133 G A 8: 123,909,994 A956V probably damaging Het
Oacyl T A 18: 65,749,640 M529K possibly damaging Het
Osbpl1a T A 18: 12,757,626 E519V possibly damaging Het
Pacs1 A T 19: 5,153,698 V333E probably damaging Het
Pik3c3 T G 18: 30,303,078 probably benign Het
Polh C T 17: 46,172,243 probably benign Het
Ppp6r3 A G 19: 3,490,826 C431R probably damaging Het
Pprc1 T C 19: 46,062,648 S206P possibly damaging Het
Rab20 A G 8: 11,454,212 Y163H probably benign Het
Sde2 T A 1: 180,855,818 C46S possibly damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Spata20 T G 11: 94,479,117 L784F probably damaging Het
Tnnt1 A C 7: 4,507,550 M224R possibly damaging Het
Trank1 T C 9: 111,349,290 F349L possibly damaging Het
Ttf1 T C 2: 29,073,883 probably benign Het
Usp54 T A 14: 20,573,837 S651C probably damaging Het
Vps45 A G 3: 96,000,066 *571R probably null Het
Yod1 G A 1: 130,719,133 G249E probably damaging Het
Ythdc2 A G 18: 44,864,361 Y340C probably damaging Het
Zfp366 G A 13: 99,246,572 probably benign Het
Zfp648 T A 1: 154,204,189 D31E possibly 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
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
Posted On2012-04-20