Incidental Mutation 'R8418:Miga1'
ID653026
Institutional Source Beutler Lab
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 #R8418 (G1)
Quality Score225.009
Status Not validated
Chromosome3
Chromosomal Location152273849-152340407 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 152285317 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 433 (Y433S)
Ref Sequence ENSEMBL: ENSMUSP00000072836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068243] [ENSMUST00000073089] [ENSMUST00000199334]
Predicted Effect probably damaging
Transcript: ENSMUST00000068243
AA Change: Y369S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: Y369S

DomainStartEndE-ValueType
Pfam:DUF2217 26 306 6.3e-74 PFAM
Pfam:DUF2217 298 507 2.8e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000073089
AA Change: Y433S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: Y433S

DomainStartEndE-ValueType
Pfam:DUF2217 27 571 4.8e-245 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199334
AA Change: Y433S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: Y433S

DomainStartEndE-ValueType
Pfam:DUF2217 26 496 1.2e-179 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 T C 17: 42,710,586 H449R probably benign Het
Arfgef2 T C 2: 166,856,548 V646A probably benign Het
BC005561 C A 5: 104,519,858 Q749K possibly damaging Het
Bean1 CT C 8: 104,182,032 probably null Het
Ccdc155 A G 7: 45,194,077 L241P probably damaging Het
Ccdc62 C T 5: 123,946,392 R279* probably null Het
Col6a5 G T 9: 105,878,622 P2201Q probably damaging Het
Cpa3 T C 3: 20,222,151 Y306C probably damaging Het
Cpne9 A G 6: 113,283,437 N82D possibly damaging Het
Dcaf17 T A 2: 71,088,373 D430E probably damaging Het
Dcst2 T C 3: 89,371,594 V546A probably benign Het
Dennd1a T C 2: 37,858,391 T359A probably benign Het
Dgkb C A 12: 38,330,017 H591N probably damaging Het
Dnah17 G A 11: 118,103,458 S1047F probably benign Het
Dock2 A G 11: 34,718,968 I215T probably benign Het
Efcab12 A G 6: 115,822,115 probably null Het
Erich3 C T 3: 154,709,741 R165C Het
Fam166b A G 4: 43,427,204 L76P unknown Het
Gabrr1 C T 4: 33,162,615 R394* probably null Het
Garnl3 G T 2: 33,052,146 Q153K possibly damaging Het
Gars A G 6: 55,065,461 N393S probably damaging Het
Gbp2b A T 3: 142,603,705 E192D probably benign Het
Gm28360 A T 1: 117,853,627 H116L probably benign Het
Gp1bb T A 16: 18,621,353 H5L unknown Het
Grik3 A G 4: 125,686,042 K527E possibly damaging Het
Hhip T C 8: 80,045,085 M199V probably damaging Het
Irgm1 A G 11: 48,866,339 V231A probably damaging Het
Itgal A T 7: 127,330,282 I1124F probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,850,378 probably benign Het
Muc16 A T 9: 18,519,630 I8062K possibly damaging Het
Ntsr2 T G 12: 16,656,661 V230G possibly damaging Het
Olfr597 A G 7: 103,321,071 Y220C Het
Ptpn2 G A 18: 67,681,522 T139M probably damaging Het
Pum2 T A 12: 8,710,245 D145E possibly damaging Het
Radil T C 5: 142,494,921 E593G probably benign Het
Rdh14 T C 12: 10,394,580 F144L probably damaging Het
Sec23ip T G 7: 128,778,463 D867E probably damaging Het
Serpina6 T C 12: 103,646,928 Y371C probably damaging Het
Snx13 T A 12: 35,098,234 I254N probably damaging Het
Tacc1 T C 8: 25,241,516 K7E probably damaging Het
Timeless A C 10: 128,250,736 N1048T probably benign Het
Tll2 C A 19: 41,092,837 E732D probably damaging Het
Tmem171 A G 13: 98,692,232 S137P probably damaging Het
Ttll3 A T 6: 113,394,773 M44L probably benign Het
Vmn2r29 T A 7: 7,241,940 I312L probably benign Het
Vmn2r43 A T 7: 8,255,584 L210* probably null Het
Vmn2r60 A G 7: 42,195,426 I738V probably damaging Het
Zfp977 T A 7: 42,579,986 M372L probably benign Het
Other mutations in Miga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Miga1 APN 3 152276690 missense probably benign 0.18
IGL01461:Miga1 APN 3 152335297 missense probably damaging 1.00
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
R8423:Miga1 UTSW 3 152322408 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAGGATCCCAATGACAAGG -3'
(R):5'- ACTCAGAGCCTAGCATTGCAC -3'

Sequencing Primer
(F):5'- TGGCCTTGGACTCACAGAGATC -3'
(R):5'- CCTAGCATTGCACAGCGC -3'
Posted On2020-10-20