Incidental Mutation 'IGL00585:Mgme1'
ID 7007
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 # IGL00585
Quality Score
Status
Chromosome 2
Chromosomal Location 144112824-144123147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 144113909 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CXC3
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: 24,519,294 (GRCm39) I664F probably damaging Het
Abcg4 A T 9: 44,192,920 (GRCm39) M142K probably benign Het
Afdn A G 17: 14,104,890 (GRCm39) T1198A probably damaging Het
Angptl2 T C 2: 33,136,239 (GRCm39) S475P probably damaging Het
Ap3s2 T C 7: 79,565,824 (GRCm39) E34G probably benign Het
C1qtnf9 T C 14: 61,017,442 (GRCm39) F324S probably damaging Het
Cacng7 A G 7: 3,414,547 (GRCm39) Y170C probably damaging Het
Ceacam18 G A 7: 43,286,435 (GRCm39) V103M possibly damaging Het
Chrnb1 G A 11: 69,684,742 (GRCm39) P144S probably damaging Het
Chuk T C 19: 44,066,751 (GRCm39) H652R probably damaging Het
Ckap5 C T 2: 91,450,170 (GRCm39) L1948F probably damaging Het
Clstn1 A T 4: 149,722,769 (GRCm39) H469L probably benign Het
Csf2rb2 C T 15: 78,169,047 (GRCm39) G594S possibly damaging Het
Ctsq A T 13: 61,184,941 (GRCm39) D248E probably benign Het
Ep400 A T 5: 110,903,771 (GRCm39) I276K possibly damaging Het
Gbf1 G A 19: 46,272,688 (GRCm39) probably null Het
Gldn T A 9: 54,245,748 (GRCm39) I433N probably damaging Het
Gm136 T A 4: 34,752,322 (GRCm39) E69V probably damaging Het
Gm28177 T C 1: 52,121,738 (GRCm39) probably null Het
Gtf2h2 A G 13: 100,617,506 (GRCm39) probably benign Het
Ints12 T C 3: 132,806,570 (GRCm39) probably null Het
Ltbp4 T C 7: 27,026,158 (GRCm39) D615G probably damaging Het
Nae1 A G 8: 105,252,910 (GRCm39) probably null Het
Nup133 G A 8: 124,636,733 (GRCm39) A956V probably damaging Het
Oacyl T A 18: 65,882,711 (GRCm39) M529K possibly damaging Het
Osbpl1a T A 18: 12,890,683 (GRCm39) E519V possibly damaging Het
Pacs1 A T 19: 5,203,726 (GRCm39) V333E probably damaging Het
Pik3c3 T G 18: 30,436,131 (GRCm39) probably benign Het
Polh C T 17: 46,483,169 (GRCm39) probably benign Het
Ppp6r3 A G 19: 3,540,826 (GRCm39) C431R probably damaging Het
Pprc1 T C 19: 46,051,087 (GRCm39) S206P possibly damaging Het
Rab20 A G 8: 11,504,212 (GRCm39) Y163H probably benign Het
Sde2 T A 1: 180,683,383 (GRCm39) C46S possibly damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Spata20 T G 11: 94,369,943 (GRCm39) L784F probably damaging Het
Tnnt1 A C 7: 4,510,549 (GRCm39) M224R possibly damaging Het
Trank1 T C 9: 111,178,358 (GRCm39) F349L possibly damaging Het
Ttf1 T C 2: 28,963,895 (GRCm39) probably benign Het
Usp54 T A 14: 20,623,905 (GRCm39) S651C probably damaging Het
Vps45 A G 3: 95,907,378 (GRCm39) *571R probably null Het
Yod1 G A 1: 130,646,870 (GRCm39) G249E probably damaging Het
Ythdc2 A G 18: 44,997,428 (GRCm39) Y340C probably damaging Het
Zfp366 G A 13: 99,383,080 (GRCm39) probably benign Het
Zfp648 T A 1: 154,079,935 (GRCm39) D31E possibly 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
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