Incidental Mutation 'IGL03113:Miga2'
ID 419280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Miga2
Ensembl Gene ENSMUSG00000026858
Gene Name mitoguardin 2
Synonyms Fam73b, 5730472N09Rik, R74766
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03113
Quality Score
Status
Chromosome 2
Chromosomal Location 30254245-30275533 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30274022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 99 (I99F)
Ref Sequence ENSEMBL: ENSMUSP00000135812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077977] [ENSMUST00000100214] [ENSMUST00000140075] [ENSMUST00000175864]
AlphaFold Q8BK03
Predicted Effect possibly damaging
Transcript: ENSMUST00000077977
AA Change: I553F

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077127
Gene: ENSMUSG00000026858
AA Change: I553F

DomainStartEndE-ValueType
Pfam:DUF2217 30 568 5.6e-242 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100214
AA Change: I553F

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097787
Gene: ENSMUSG00000026858
AA Change: I553F

DomainStartEndE-ValueType
Pfam:DUF2217 31 568 6.9e-228 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125610
Predicted Effect probably benign
Transcript: ENSMUST00000140075
SMART Domains Protein: ENSMUSP00000135519
Gene: ENSMUSG00000026858

DomainStartEndE-ValueType
Pfam:DUF2217 30 393 5.1e-125 PFAM
low complexity region 409 420 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000175864
AA Change: I99F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135812
Gene: ENSMUSG00000026858
AA Change: I99F

DomainStartEndE-ValueType
Pfam:DUF2217 1 73 1.5e-46 PFAM
Pfam:DUF2217 70 114 7.7e-20 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000176517
AA Change: H90L
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apof G A 10: 128,105,568 (GRCm39) V241M probably benign Het
Arhgef10 T A 8: 15,004,505 (GRCm39) I91N probably damaging Het
Arhgef17 G A 7: 100,578,938 (GRCm39) T670I probably benign Het
Barhl1 T C 2: 28,805,468 (GRCm39) D75G probably benign Het
Capn13 T C 17: 73,638,108 (GRCm39) T432A probably benign Het
Casd1 T A 6: 4,640,951 (GRCm39) Y691N probably damaging Het
Ccdc175 C A 12: 72,191,557 (GRCm39) V340L probably benign Het
Cdc5l A T 17: 45,744,348 (GRCm39) M5K possibly damaging Het
Cgn A G 3: 94,686,544 (GRCm39) F253L probably benign Het
Csmd1 T C 8: 16,078,712 (GRCm39) K2003R probably benign Het
Disp2 T A 2: 118,621,259 (GRCm39) probably null Het
Dnah7a T C 1: 53,472,163 (GRCm39) N3535D possibly damaging Het
Exoc3 G A 13: 74,341,232 (GRCm39) Q191* probably null Het
Fstl5 T A 3: 76,337,099 (GRCm39) Y219* probably null Het
Gad2 T A 2: 22,571,367 (GRCm39) L435Q probably benign Het
Gcnt3 A G 9: 69,941,983 (GRCm39) V195A probably damaging Het
Haus6 G A 4: 86,501,343 (GRCm39) Q843* probably null Het
Hivep2 T A 10: 14,006,395 (GRCm39) F998I probably damaging Het
Hsf5 A T 11: 87,548,190 (GRCm39) E624D probably benign Het
Klb A G 5: 65,540,813 (GRCm39) N969D probably benign Het
Klhl6 T A 16: 19,776,001 (GRCm39) S186C possibly damaging Het
Klk15 T C 7: 43,587,805 (GRCm39) F78L probably benign Het
Ldlr A G 9: 21,651,124 (GRCm39) E514G possibly damaging Het
Map9 T A 3: 82,267,285 (GRCm39) probably benign Het
Morc4 T C X: 138,758,605 (GRCm39) E189G probably benign Het
Nhlrc3 A T 3: 53,365,984 (GRCm39) Y170N possibly damaging Het
Or3a1b G A 11: 74,012,529 (GRCm39) R138Q probably benign Het
Or4c111 A G 2: 88,844,379 (GRCm39) F10L probably damaging Het
Or51b6b A T 7: 103,309,851 (GRCm39) V202D possibly damaging Het
Or52u1 A T 7: 104,237,940 (GRCm39) R310W probably benign Het
Or5o1 T A X: 48,815,939 (GRCm39) N291Y probably damaging Het
Or5w15 T C 2: 87,568,506 (GRCm39) Q54R probably benign Het
Or8g32 A C 9: 39,305,981 (GRCm39) K295T probably damaging Het
Pkd1l1 G A 11: 8,784,793 (GRCm39) T1997I probably benign Het
Poln A G 5: 34,274,206 (GRCm39) S377P probably benign Het
Rab22a T A 2: 173,503,265 (GRCm39) V26E probably damaging Het
Rhbdl3 T C 11: 80,244,439 (GRCm39) V382A possibly damaging Het
Slitrk3 G T 3: 72,957,723 (GRCm39) Q350K probably benign Het
Sult1d1 A T 5: 87,707,738 (GRCm39) Y127* probably null Het
Vmn1r73 A T 7: 11,490,527 (GRCm39) Y115F probably benign Het
Zfp128 T A 7: 12,624,314 (GRCm39) D227E probably benign Het
Other mutations in Miga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Miga2 APN 2 30,257,729 (GRCm39) missense probably benign 0.04
IGL01353:Miga2 APN 2 30,261,245 (GRCm39) critical splice donor site probably null
IGL01679:Miga2 APN 2 30,268,262 (GRCm39) missense probably benign 0.07
uncertain UTSW 2 30,261,208 (GRCm39) missense probably benign 0.00
R0620:Miga2 UTSW 2 30,271,756 (GRCm39) unclassified probably benign
R1698:Miga2 UTSW 2 30,268,009 (GRCm39) missense probably damaging 1.00
R1729:Miga2 UTSW 2 30,258,980 (GRCm39) missense probably damaging 1.00
R1994:Miga2 UTSW 2 30,272,000 (GRCm39) missense probably damaging 1.00
R2377:Miga2 UTSW 2 30,274,002 (GRCm39) nonsense probably null
R2891:Miga2 UTSW 2 30,268,306 (GRCm39) splice site probably null
R2892:Miga2 UTSW 2 30,268,306 (GRCm39) splice site probably null
R2893:Miga2 UTSW 2 30,268,306 (GRCm39) splice site probably null
R3788:Miga2 UTSW 2 30,261,237 (GRCm39) nonsense probably null
R4042:Miga2 UTSW 2 30,257,738 (GRCm39) missense possibly damaging 0.87
R5214:Miga2 UTSW 2 30,261,208 (GRCm39) missense probably benign 0.00
R5750:Miga2 UTSW 2 30,261,577 (GRCm39) missense probably damaging 1.00
R5928:Miga2 UTSW 2 30,258,875 (GRCm39) splice site probably benign
R6134:Miga2 UTSW 2 30,261,229 (GRCm39) missense probably benign 0.00
R6209:Miga2 UTSW 2 30,271,674 (GRCm39) missense probably damaging 1.00
R6860:Miga2 UTSW 2 30,261,175 (GRCm39) missense probably benign 0.15
R7373:Miga2 UTSW 2 30,272,083 (GRCm39) missense probably damaging 1.00
R7884:Miga2 UTSW 2 30,261,216 (GRCm39) missense probably benign 0.02
R8370:Miga2 UTSW 2 30,265,755 (GRCm39) frame shift probably null
R8371:Miga2 UTSW 2 30,265,755 (GRCm39) frame shift probably null
R8374:Miga2 UTSW 2 30,265,755 (GRCm39) frame shift probably null
R8847:Miga2 UTSW 2 30,273,990 (GRCm39) missense probably damaging 0.99
R9060:Miga2 UTSW 2 30,271,735 (GRCm39) missense probably damaging 1.00
R9253:Miga2 UTSW 2 30,261,239 (GRCm39) missense probably benign 0.18
R9286:Miga2 UTSW 2 30,273,609 (GRCm39) missense probably benign 0.33
R9526:Miga2 UTSW 2 30,268,400 (GRCm39) missense unknown
Posted On 2016-08-02