Incidental Mutation 'IGL01461:Miga1'
ID87982
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Miga1
Ensembl Gene ENSMUSG00000054942
Gene Namemitoguardin 1
SynonymsC030011O14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01461
Quality Score
Status
Chromosome3
Chromosomal Location152273849-152340407 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 152335297 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 78 (E78K)
Ref Sequence ENSEMBL: ENSMUSP00000143008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068243] [ENSMUST00000073089] [ENSMUST00000196265] [ENSMUST00000199334] [ENSMUST00000199397]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068243
AA Change: E78K

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: E78K

DomainStartEndE-ValueType
Pfam:DUF2217 26 306 6.3e-74 PFAM
Pfam:DUF2217 298 507 2.8e-115 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000073089
AA Change: E78K

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: E78K

DomainStartEndE-ValueType
Pfam:DUF2217 27 571 4.8e-245 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196265
AA Change: E78K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142667
Gene: ENSMUSG00000054942
AA Change: E78K

DomainStartEndE-ValueType
Pfam:DUF2217 26 146 1.5e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000199334
AA Change: E78K

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: E78K

DomainStartEndE-ValueType
Pfam:DUF2217 26 496 1.2e-179 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199397
AA Change: E78K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143008
Gene: ENSMUSG00000054942
AA Change: E78K

DomainStartEndE-ValueType
Pfam:DUF2217 26 145 8.4e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200241
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,281,095 F767S probably benign Het
2810474O19Rik T C 6: 149,331,515 probably benign Het
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Apob A T 12: 8,001,884 M1137L probably benign Het
Brd9 C T 13: 73,951,598 Q445* probably null Het
Cdh23 T C 10: 60,409,147 T990A possibly damaging Het
Cenpf A G 1: 189,657,096 L1513S probably damaging Het
Col27a1 A G 4: 63,224,243 K56R probably damaging Het
Cryaa A G 17: 31,681,026 Y118C probably damaging Het
Dtl T C 1: 191,546,617 T378A possibly damaging Het
E330020D12Rik A G 1: 153,408,359 noncoding transcript Het
F7 A G 8: 13,032,245 D145G possibly damaging Het
Flvcr2 A G 12: 85,803,131 probably benign Het
Hltf A T 3: 20,099,939 K680* probably null Het
Ing1 T G 8: 11,561,453 F22V probably benign Het
Ipo5 A G 14: 120,928,533 D330G probably damaging Het
Itgax G T 7: 128,135,018 D321Y probably damaging Het
Kdelc1 T C 1: 44,110,934 Q365R probably damaging Het
Kel A C 6: 41,701,911 probably null Het
March10 T C 11: 105,389,605 K618R probably damaging Het
Mast4 T A 13: 102,754,068 M925L probably damaging Het
Olfr1204 G T 2: 88,852,325 C125F probably damaging Het
Olfr58 T A 9: 19,783,949 probably null Het
Pkdrej T C 15: 85,820,374 I454V possibly damaging Het
Prpf6 C A 2: 181,631,511 T283N probably benign Het
R3hdm1 A G 1: 128,178,906 H197R probably damaging Het
Smpd4 A C 16: 17,621,506 Q7P probably damaging Het
Vmn2r84 A T 10: 130,391,225 I248K possibly damaging Het
Other mutations in Miga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Miga1 APN 3 152276690 missense probably benign 0.18
IGL02962:Miga1 APN 3 152285341 splice site probably benign
R0165:Miga1 UTSW 3 152290843 missense probably damaging 0.99
R0945:Miga1 UTSW 3 152317663 missense possibly damaging 0.85
R1527:Miga1 UTSW 3 152317663 missense possibly damaging 0.85
R1769:Miga1 UTSW 3 152287554 missense probably damaging 1.00
R1978:Miga1 UTSW 3 152335304 frame shift probably null
R3697:Miga1 UTSW 3 152322436 missense probably damaging 0.99
R4649:Miga1 UTSW 3 152279005 missense probably benign 0.28
R4660:Miga1 UTSW 3 152287518 missense probably damaging 1.00
R4679:Miga1 UTSW 3 152322475 missense probably damaging 1.00
R4815:Miga1 UTSW 3 152290806 missense probably benign 0.00
R5019:Miga1 UTSW 3 152322461 missense possibly damaging 0.86
R5488:Miga1 UTSW 3 152333446 small deletion probably benign
R6107:Miga1 UTSW 3 152335399 missense probably benign 0.03
R6227:Miga1 UTSW 3 152278949 missense probably benign 0.09
R6292:Miga1 UTSW 3 152317719 missense probably benign 0.30
R6438:Miga1 UTSW 3 152322403 missense probably damaging 1.00
R6444:Miga1 UTSW 3 152283831 missense probably damaging 1.00
R6489:Miga1 UTSW 3 152279008 missense probably damaging 0.99
R6564:Miga1 UTSW 3 152285322 missense probably damaging 1.00
R7354:Miga1 UTSW 3 152290500 missense probably damaging 1.00
R7440:Miga1 UTSW 3 152338046 critical splice acceptor site probably null
R7638:Miga1 UTSW 3 152276687 missense probably benign 0.00
R8039:Miga1 UTSW 3 152276756 missense probably benign 0.15
R8154:Miga1 UTSW 3 152320700 unclassified probably benign
R8418:Miga1 UTSW 3 152285317 missense probably damaging 1.00
R8423:Miga1 UTSW 3 152322408 missense probably benign 0.00
Posted On2013-11-18