Incidental Mutation 'IGL03277:Mtx2'
ID 415455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtx2
Ensembl Gene ENSMUSG00000027099
Gene Name metaxin 2
Synonyms 1500012G02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # IGL03277
Quality Score
Status
Chromosome 2
Chromosomal Location 74656156-74707092 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74698748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 124 (T124A)
Ref Sequence ENSEMBL: ENSMUSP00000028511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028511]
AlphaFold O88441
Predicted Effect probably damaging
Transcript: ENSMUST00000028511
AA Change: T124A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028511
Gene: ENSMUSG00000027099
AA Change: T124A

DomainStartEndE-ValueType
Pfam:GST_C_3 99 251 3.3e-21 PFAM
Pfam:GST_C_2 165 248 6.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155844
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amt A G 9: 108,178,418 (GRCm39) T342A probably benign Het
Atosa G A 9: 74,916,514 (GRCm39) R371Q probably damaging Het
B3glct T C 5: 149,650,299 (GRCm39) L134P probably damaging Het
Bms1 A T 6: 118,382,083 (GRCm39) M485K probably benign Het
Chd6 T C 2: 160,824,981 (GRCm39) N1226S probably null Het
Cpne2 T C 8: 95,275,000 (GRCm39) Y3H probably benign Het
Dmxl2 A G 9: 54,311,504 (GRCm39) V1739A probably damaging Het
Dnah7a T A 1: 53,669,481 (GRCm39) T543S probably benign Het
Dock11 T G X: 35,277,603 (GRCm39) V1000G probably benign Het
Ednrb T A 14: 104,080,735 (GRCm39) N60Y probably benign Het
Eif3d A G 15: 77,843,849 (GRCm39) M499T possibly damaging Het
Elmod1 G A 9: 53,833,272 (GRCm39) L178F probably damaging Het
Hrh4 T C 18: 13,148,940 (GRCm39) S101P probably damaging Het
Ift172 A G 5: 31,424,642 (GRCm39) V684A possibly damaging Het
Nat3 T A 8: 68,000,341 (GRCm39) H73Q probably benign Het
Ndst2 A G 14: 20,780,234 (GRCm39) L2P possibly damaging Het
Nipsnap3a G T 4: 52,997,219 (GRCm39) A162S probably benign Het
Or2a57 T G 6: 43,212,876 (GRCm39) C111W probably damaging Het
Or5m5 T C 2: 85,814,517 (GRCm39) I111T probably damaging Het
Peg3 T C 7: 6,714,673 (GRCm39) D183G probably damaging Het
Prlr A G 15: 10,328,887 (GRCm39) E454G probably benign Het
Prom1 G A 5: 44,190,313 (GRCm39) Q364* probably null Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Sema5b A G 16: 35,471,682 (GRCm39) D425G probably damaging Het
Slc16a7 A T 10: 125,066,560 (GRCm39) C360S probably benign Het
Slc38a7 T A 8: 96,575,104 (GRCm39) I59F probably damaging Het
Slc5a6 A G 5: 31,195,372 (GRCm39) C449R possibly damaging Het
Slc9b1 T C 3: 135,096,269 (GRCm39) Y357H possibly damaging Het
Snx17 A T 5: 31,353,084 (GRCm39) probably benign Het
Stk32b A C 5: 37,786,320 (GRCm39) M48R probably damaging Het
Tspan9 A G 6: 127,944,038 (GRCm39) probably null Het
Tst A T 15: 78,289,521 (GRCm39) N171K probably damaging Het
Vmn1r180 T A 7: 23,652,710 (GRCm39) I291N probably damaging Het
Vmn2r32 T A 7: 7,477,251 (GRCm39) D380V probably benign Het
Wdfy4 T C 14: 32,790,861 (GRCm39) T2189A probably benign Het
Zbtb20 A G 16: 43,438,800 (GRCm39) N640S possibly damaging Het
Zfp142 A G 1: 74,610,193 (GRCm39) S1098P probably damaging Het
Other mutations in Mtx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01867:Mtx2 APN 2 74,706,733 (GRCm39) missense probably damaging 1.00
R0593:Mtx2 UTSW 2 74,699,780 (GRCm39) splice site probably benign
R0638:Mtx2 UTSW 2 74,699,634 (GRCm39) splice site probably benign
R2240:Mtx2 UTSW 2 74,699,696 (GRCm39) missense probably benign 0.00
R2906:Mtx2 UTSW 2 74,697,253 (GRCm39) missense probably damaging 1.00
R3151:Mtx2 UTSW 2 74,677,634 (GRCm39) splice site probably null
R3732:Mtx2 UTSW 2 74,677,606 (GRCm39) missense probably damaging 1.00
R3732:Mtx2 UTSW 2 74,677,606 (GRCm39) missense probably damaging 1.00
R3733:Mtx2 UTSW 2 74,677,606 (GRCm39) missense probably damaging 1.00
R6918:Mtx2 UTSW 2 74,706,697 (GRCm39) missense probably damaging 1.00
R7154:Mtx2 UTSW 2 74,706,762 (GRCm39) missense probably damaging 1.00
R7854:Mtx2 UTSW 2 74,699,231 (GRCm39) missense probably damaging 1.00
R8139:Mtx2 UTSW 2 74,706,714 (GRCm39) missense probably benign 0.04
R8234:Mtx2 UTSW 2 74,699,706 (GRCm39) missense probably damaging 1.00
R8942:Mtx2 UTSW 2 74,699,696 (GRCm39) missense probably benign 0.01
R9326:Mtx2 UTSW 2 74,656,287 (GRCm39) start gained probably benign
Posted On 2016-08-02