Incidental Mutation 'IGL00673:Miga2'
ID10674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Miga2
Ensembl Gene ENSMUSG00000026858
Gene Namemitoguardin 2
SynonymsFam73b, R74766, 5730472N09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00673
Quality Score
Status
Chromosome2
Chromosomal Location30364233-30385521 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 30367717 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 9 (M9R)
Ref Sequence ENSEMBL: ENSMUSP00000135519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077977] [ENSMUST00000100214] [ENSMUST00000116543] [ENSMUST00000140075] [ENSMUST00000142801]
Predicted Effect probably benign
Transcript: ENSMUST00000077977
AA Change: M9R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000077127
Gene: ENSMUSG00000026858
AA Change: M9R

DomainStartEndE-ValueType
Pfam:DUF2217 30 568 5.6e-242 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100214
AA Change: M9R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097787
Gene: ENSMUSG00000026858
AA Change: M9R

DomainStartEndE-ValueType
Pfam:DUF2217 31 568 6.9e-228 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116543
SMART Domains Protein: ENSMUSP00000135126
Gene: ENSMUSG00000026858

DomainStartEndE-ValueType
Pfam:DUF2217 1 91 3.6e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137441
Predicted Effect probably benign
Transcript: ENSMUST00000140075
AA Change: M9R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000135519
Gene: ENSMUSG00000026858
AA Change: M9R

DomainStartEndE-ValueType
Pfam:DUF2217 30 393 5.1e-125 PFAM
low complexity region 409 420 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142801
AA Change: M9R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000118253
Gene: ENSMUSG00000026858
AA Change: M9R

DomainStartEndE-ValueType
Pfam:DUF2217 30 139 4.1e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198501
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T C 9: 90,193,661 S1191P possibly damaging Het
Alg2 C T 4: 47,472,329 D160N probably damaging Het
Cd177 A T 7: 24,752,017 F487Y possibly damaging Het
Cdc27 A G 11: 104,528,435 Y224H probably damaging Het
Cdhr1 A G 14: 37,085,528 V385A probably benign Het
Cep128 G T 12: 91,234,191 H31Q probably benign Het
Ehd4 A G 2: 120,102,220 S242P probably damaging Het
Esco1 A G 18: 10,582,078 F647L probably damaging Het
Itgbl1 C T 14: 123,846,432 probably benign Het
Kcnj3 G T 2: 55,595,272 D461Y possibly damaging Het
Kcnq3 G A 15: 65,995,271 T841M probably damaging Het
Kcnt2 T G 1: 140,596,051 N1103K possibly damaging Het
Mib1 A G 18: 10,798,490 S784G probably benign Het
Mpp5 C A 12: 78,829,799 R506S possibly damaging Het
Prl2a1 T C 13: 27,808,453 S187P probably damaging Het
Psg28 A G 7: 18,427,891 V229A probably damaging Het
Ptdss2 G T 7: 141,143,125 C84F probably benign Het
Recql T A 6: 142,376,921 N85I probably null Het
Tex47 A T 5: 7,305,211 I131F probably damaging Het
Tlk1 G T 2: 70,745,516 Q323K probably damaging Het
Other mutations in Miga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Miga2 APN 2 30371233 critical splice donor site probably null
IGL01679:Miga2 APN 2 30378250 missense probably benign 0.07
IGL03113:Miga2 APN 2 30384010 missense possibly damaging 0.96
uncertain UTSW 2 30371196 missense probably benign 0.00
R0620:Miga2 UTSW 2 30381744 unclassified probably benign
R1698:Miga2 UTSW 2 30377997 missense probably damaging 1.00
R1729:Miga2 UTSW 2 30368968 missense probably damaging 1.00
R1994:Miga2 UTSW 2 30381988 missense probably damaging 1.00
R2377:Miga2 UTSW 2 30383990 nonsense probably null
R2891:Miga2 UTSW 2 30378294 splice site probably null
R2892:Miga2 UTSW 2 30378294 splice site probably null
R2893:Miga2 UTSW 2 30378294 splice site probably null
R3788:Miga2 UTSW 2 30371225 nonsense probably null
R4042:Miga2 UTSW 2 30367726 missense possibly damaging 0.87
R5214:Miga2 UTSW 2 30371196 missense probably benign 0.00
R5750:Miga2 UTSW 2 30371565 missense probably damaging 1.00
R5928:Miga2 UTSW 2 30368863 splice site probably benign
R6134:Miga2 UTSW 2 30371217 missense probably benign 0.00
R6209:Miga2 UTSW 2 30381662 missense probably damaging 1.00
R6860:Miga2 UTSW 2 30371163 missense probably benign 0.15
R7373:Miga2 UTSW 2 30382071 missense probably damaging 1.00
R7884:Miga2 UTSW 2 30371204 missense probably benign 0.02
R8370:Miga2 UTSW 2 30375743 frame shift probably null
R8371:Miga2 UTSW 2 30375743 frame shift probably null
R8374:Miga2 UTSW 2 30375743 frame shift probably null
Posted On2012-12-06