Incidental Mutation 'IGL01679:Miga2'
ID103744
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 #IGL01679
Quality Score
Status
Chromosome2
Chromosomal Location30364233-30385521 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30378250 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 387 (K387R)
Ref Sequence ENSEMBL: ENSMUSP00000135519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077977] [ENSMUST00000100214] [ENSMUST00000140075] [ENSMUST00000175864]
Predicted Effect probably benign
Transcript: ENSMUST00000077977
AA Change: K387R

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000077127
Gene: ENSMUSG00000026858
AA Change: K387R

DomainStartEndE-ValueType
Pfam:DUF2217 30 568 5.6e-242 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100214
AA Change: K387R

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097787
Gene: ENSMUSG00000026858
AA Change: K387R

DomainStartEndE-ValueType
Pfam:DUF2217 31 568 6.9e-228 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135841
Predicted Effect probably benign
Transcript: ENSMUST00000140075
AA Change: K387R

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000135519
Gene: ENSMUSG00000026858
AA Change: K387R

DomainStartEndE-ValueType
Pfam:DUF2217 30 393 5.1e-125 PFAM
low complexity region 409 420 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175864
SMART Domains Protein: ENSMUSP00000135812
Gene: ENSMUSG00000026858

DomainStartEndE-ValueType
Pfam:DUF2217 1 73 1.5e-46 PFAM
Pfam:DUF2217 70 114 7.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176517
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,298,071 M2606K probably benign Het
Abl2 A G 1: 156,642,465 I1100V probably benign Het
Atp2a1 T C 7: 126,456,809 N280S probably benign Het
Car8 G A 4: 8,169,674 T278I possibly damaging Het
Catsperb G A 12: 101,591,582 probably null Het
Cmya5 T C 13: 93,065,320 E3378G probably damaging Het
Ctsq C T 13: 61,038,908 G94D probably benign Het
Entpd8 A G 2: 25,084,366 K388E probably benign Het
Gab1 C T 8: 80,791,549 A145T probably benign Het
Gbp9 T C 5: 105,085,172 probably null Het
Gm6685 T C 11: 28,339,586 T77A possibly damaging Het
Gm8787 A G X: 79,332,833 Y266H probably damaging Het
Ick T C 9: 78,140,025 I69T possibly damaging Het
Myo1g A G 11: 6,518,006 V143A possibly damaging Het
Pi4ka A G 16: 17,296,888 probably benign Het
Plekhg6 T C 6: 125,374,979 T201A probably benign Het
Pxdn T C 12: 29,999,902 S650P probably damaging Het
Rplp2 T G 7: 141,448,766 I55S probably damaging Het
Sdk1 A G 5: 142,046,164 D998G probably benign Het
Slc13a2 C A 11: 78,404,711 A110S probably damaging Het
Slc38a2 A T 15: 96,697,954 Y94* probably null Het
Smarcc1 A G 9: 110,213,530 R889G probably damaging Het
Tie1 T C 4: 118,482,739 T364A probably benign Het
Zfp655 A G 5: 145,243,827 E165G probably damaging Het
Other mutations in Miga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Miga2 APN 2 30367717 missense probably benign 0.04
IGL01353:Miga2 APN 2 30371233 critical splice donor site probably null
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 On2014-01-21