Incidental Mutation 'IGL01867:Mtx2'
ID 178555
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: 0.912) question?
Stock # IGL01867
Quality Score
Status
Chromosome 2
Chromosomal Location 74656156-74707092 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74706733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 236 (V236E)
Ref Sequence ENSEMBL: ENSMUSP00000028511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028511]
AlphaFold O88441
Predicted Effect probably damaging
Transcript: ENSMUST00000028511
AA Change: V236E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028511
Gene: ENSMUSG00000027099
AA Change: V236E

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,635,364 (GRCm39) E213G probably benign Het
Akap6 T C 12: 52,934,791 (GRCm39) L761P probably damaging Het
Bbs7 A C 3: 36,627,696 (GRCm39) L697R probably benign Het
Cd74 G A 18: 60,941,352 (GRCm39) R99H probably benign Het
Cpne6 A G 14: 55,751,137 (GRCm39) N182S probably benign Het
Cyp4f17 A G 17: 32,747,057 (GRCm39) H429R probably benign Het
Dact2 A T 17: 14,415,932 (GRCm39) M756K probably damaging Het
Ets1 A G 9: 32,645,455 (GRCm39) D234G probably damaging Het
Fat3 A C 9: 16,289,197 (GRCm39) S109A probably benign Het
Fras1 G T 5: 96,735,990 (GRCm39) M528I probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gtf3c1 A G 7: 125,261,548 (GRCm39) F1189L probably benign Het
Ift81 A T 5: 122,740,739 (GRCm39) probably benign Het
Insyn2b A G 11: 34,353,065 (GRCm39) E369G probably benign Het
Lag3 A G 6: 124,887,869 (GRCm39) S22P probably benign Het
Mos G T 4: 3,870,845 (GRCm39) Q324K probably benign Het
Naip6 T C 13: 100,436,820 (GRCm39) T568A probably benign Het
Or5k8 A G 16: 58,644,337 (GRCm39) F245S probably damaging Het
Or6c35 T A 10: 129,169,232 (GRCm39) L161M probably damaging Het
Or6c68 T C 10: 129,157,585 (GRCm39) I31T probably benign Het
Or6c88 G A 10: 129,406,696 (GRCm39) M57I possibly damaging Het
Or8b53 A C 9: 38,667,194 (GRCm39) D70A probably damaging Het
Pcid2 A G 8: 13,128,243 (GRCm39) V386A probably benign Het
Pde8b T C 13: 95,237,446 (GRCm39) D116G probably damaging Het
Plxnc1 A G 10: 94,634,008 (GRCm39) V1365A possibly damaging Het
Prex2 G T 1: 11,168,727 (GRCm39) C241F probably benign Het
Prr23a2 A G 9: 98,739,113 (GRCm39) E157G probably benign Het
Ptpn4 A T 1: 119,603,329 (GRCm39) H836Q probably benign Het
Ptprd C T 4: 76,161,884 (GRCm39) R117H probably damaging Het
Rab11fip4 T C 11: 79,574,216 (GRCm39) S102P probably benign Het
Slc44a1 G T 4: 53,536,405 (GRCm39) V194F probably damaging Het
Synm T A 7: 67,383,222 (GRCm39) H1480L probably benign Het
Tmem63a A G 1: 180,783,570 (GRCm39) Y175C possibly damaging Het
Trmt61a C T 12: 111,645,150 (GRCm39) R29C probably benign Het
Ubap1 C T 4: 41,379,236 (GRCm39) T150I probably benign Het
Uimc1 T C 13: 55,223,214 (GRCm39) M353V probably benign Het
Usp34 T C 11: 23,334,411 (GRCm39) M1135T possibly damaging Het
Vmn1r25 A C 6: 57,956,196 (GRCm39) L31R probably damaging Het
Wtap T C 17: 13,188,342 (GRCm39) E186G probably benign Het
Wwc2 T G 8: 48,336,615 (GRCm39) N216H probably benign Het
Zhx1 A T 15: 57,917,841 (GRCm39) M135K probably damaging Het
Other mutations in Mtx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03277:Mtx2 APN 2 74,698,748 (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 2014-05-07