Incidental Mutation 'IGL00465:Mgme1'
ID 332144
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 # IGL00465
Quality Score
Status
Chromosome 2
Chromosomal Location 144112824-144123147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 144121436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 297 (D297E)
Ref Sequence ENSEMBL: ENSMUSP00000105655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028910] [ENSMUST00000110027] [ENSMUST00000110028]
AlphaFold Q9CXC3
Predicted Effect probably damaging
Transcript: ENSMUST00000028910
AA Change: D297E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028910
Gene: ENSMUSG00000027424
AA Change: D297E

DomainStartEndE-ValueType
Pfam:PDDEXK_1 30 336 4.7e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110027
AA Change: D297E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105654
Gene: ENSMUSG00000027424
AA Change: D297E

DomainStartEndE-ValueType
Pfam:PDDEXK_1 189 333 5.9e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110028
AA Change: D297E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105655
Gene: ENSMUSG00000027424
AA Change: D297E

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,793,102 (GRCm39) S2T probably damaging Het
Adamts13 T A 2: 26,863,567 (GRCm39) W7R probably benign Het
Anks6 T A 4: 47,046,054 (GRCm39) D279V probably damaging Het
C4bp A T 1: 130,566,871 (GRCm39) L335Q probably damaging Het
Cd109 A T 9: 78,568,216 (GRCm39) K299* probably null Het
Cd200r2 A T 16: 44,729,651 (GRCm39) H102L probably damaging Het
Col12a1 A G 9: 79,604,863 (GRCm39) Y662H probably damaging Het
Cyp2c37 T C 19: 39,990,441 (GRCm39) F380L probably benign Het
Deup1 A G 9: 15,472,666 (GRCm39) S549P probably damaging Het
Dysf G T 6: 84,176,830 (GRCm39) probably null Het
Etaa1 A T 11: 17,897,825 (GRCm39) C166* probably null Het
Fam227b T C 2: 125,986,245 (GRCm39) probably null Het
Gucy1b2 T G 14: 62,640,649 (GRCm39) Q752P probably benign Het
Hal T C 10: 93,325,931 (GRCm39) probably null Het
Hao1 C A 2: 134,396,190 (GRCm39) K21N probably damaging Het
Itga4 T C 2: 79,122,394 (GRCm39) F536L probably benign Het
Lmod3 A T 6: 97,224,822 (GRCm39) I333N probably damaging Het
Myh2 G T 11: 67,069,659 (GRCm39) probably benign Het
Myo7a A G 7: 97,751,833 (GRCm39) M70T probably damaging Het
Nav3 T C 10: 109,688,607 (GRCm39) T557A probably damaging Het
Nif3l1 C A 1: 58,494,845 (GRCm39) H271Q possibly damaging Het
Nostrin A G 2: 69,015,898 (GRCm39) probably benign Het
Nxn C A 11: 76,165,481 (GRCm39) probably benign Het
Pcdhb22 A T 18: 37,653,185 (GRCm39) D551V probably damaging Het
Pde4d A G 13: 110,073,221 (GRCm39) D339G possibly damaging Het
Pkp4 T A 2: 59,169,099 (GRCm39) S408T probably damaging Het
Pxmp2 T C 5: 110,431,582 (GRCm39) T54A probably benign Het
Rif1 T A 2: 52,011,019 (GRCm39) V2362E probably damaging Het
Rps6kl1 A G 12: 85,186,203 (GRCm39) S276P probably benign Het
Scaf4 C A 16: 90,044,169 (GRCm39) M601I unknown Het
Scart2 A G 7: 139,874,755 (GRCm39) Y411C probably damaging Het
Setd7 T A 3: 51,457,729 (GRCm39) T33S probably benign Het
Shroom1 T A 11: 53,354,921 (GRCm39) D280E probably benign Het
Slc35f2 G T 9: 53,705,298 (GRCm39) probably null Het
Slitrk3 T A 3: 72,958,436 (GRCm39) N112I probably damaging Het
Spag1 A G 15: 36,183,967 (GRCm39) probably benign Het
Stx6 C T 1: 155,077,679 (GRCm39) probably benign Het
Sun1 A T 5: 139,220,440 (GRCm39) probably null Het
Tbl1xr1 G A 3: 22,246,432 (GRCm39) probably null Het
Tmc2 T C 2: 130,103,224 (GRCm39) S787P possibly damaging Het
Traf3ip3 C T 1: 192,877,128 (GRCm39) probably benign Het
Trip12 T G 1: 84,741,582 (GRCm39) H559P probably damaging Het
Trpm1 G T 7: 63,897,215 (GRCm39) M272I possibly damaging Het
Ttc21b T C 2: 66,073,119 (GRCm39) E189G probably benign Het
Tubd1 T C 11: 86,445,894 (GRCm39) probably benign Het
Vps13a T A 19: 16,729,539 (GRCm39) T167S probably damaging Het
Zbtb3 A G 19: 8,781,029 (GRCm39) D214G possibly damaging Het
Zfp658 A G 7: 43,216,780 (GRCm39) D50G probably benign Het
Zfp976 T A 7: 42,263,109 (GRCm39) I243L unknown Het
Other mutations in Mgme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Mgme1 APN 2 144,121,056 (GRCm39) splice site probably benign
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 2015-08-05