Incidental Mutation 'IGL02416:Mmgt2'
ID 292464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmgt2
Ensembl Gene ENSMUSG00000048497
Gene Name membrane magnesium transporter 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02416
Quality Score
Status
Chromosome 11
Chromosomal Location 62539490-62557180 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62555703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 17 (L17P)
Ref Sequence ENSEMBL: ENSMUSP00000128697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062860] [ENSMUST00000127589] [ENSMUST00000129162] [ENSMUST00000155759]
AlphaFold Q8R3L0
Predicted Effect probably benign
Transcript: ENSMUST00000062860
Predicted Effect probably damaging
Transcript: ENSMUST00000127589
AA Change: L17P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000129162
AA Change: L17P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128669
Gene: ENSMUSG00000048497
AA Change: L17P

DomainStartEndE-ValueType
Pfam:MMgT 10 98 3.8e-17 PFAM
low complexity region 106 117 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148707
Predicted Effect probably damaging
Transcript: ENSMUST00000155759
AA Change: L17P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128697
Gene: ENSMUSG00000048497
AA Change: L17P

DomainStartEndE-ValueType
Pfam:MMgT 9 101 8.1e-24 PFAM
low complexity region 106 117 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T C 14: 68,810,282 (GRCm39) N227S probably null Het
Adgrf5 T G 17: 43,755,871 (GRCm39) probably null Het
Arid2 G A 15: 96,247,936 (GRCm39) G116D possibly damaging Het
Arsa T A 15: 89,358,991 (GRCm39) H225L probably damaging Het
Atf6 T A 1: 170,574,726 (GRCm39) K571* probably null Het
Bicdl1 A C 5: 115,801,944 (GRCm39) L38R probably damaging Het
Cct4 T C 11: 22,952,868 (GRCm39) S515P probably damaging Het
Celsr3 A C 9: 108,709,318 (GRCm39) D1388A probably damaging Het
Clca3a2 T C 3: 144,790,777 (GRCm39) T432A probably benign Het
Des T A 1: 75,339,372 (GRCm39) probably null Het
Dock11 T A X: 35,283,739 (GRCm39) V1119E probably damaging Het
Dysf A G 6: 84,169,896 (GRCm39) N1763S possibly damaging Het
Emilin1 A G 5: 31,075,132 (GRCm39) S458G possibly damaging Het
Fhdc1 T G 3: 84,352,535 (GRCm39) M897L probably benign Het
Foxj1 T C 11: 116,222,829 (GRCm39) S325G probably benign Het
Gm5407 A G 16: 49,117,250 (GRCm39) noncoding transcript Het
Gm6576 T C 15: 27,026,073 (GRCm39) noncoding transcript Het
Hells G A 19: 38,953,071 (GRCm39) S743N probably benign Het
Ighv2-9-1 A T 12: 113,733,731 (GRCm39) L30Q probably damaging Het
Iqgap1 A T 7: 80,375,786 (GRCm39) L1363H probably damaging Het
Lrp2 T C 2: 69,299,977 (GRCm39) D3025G probably damaging Het
Mef2d C T 3: 88,063,809 (GRCm39) R79C probably damaging Het
Mical1 G T 10: 41,360,806 (GRCm39) probably null Het
Micu2 A T 14: 58,161,422 (GRCm39) V300E probably damaging Het
Or4p21 A G 2: 88,277,174 (GRCm39) I36T probably benign Het
Or7c19 T A 8: 85,957,662 (GRCm39) C179* probably null Het
Or7e177 A T 9: 20,211,541 (GRCm39) E15V probably benign Het
Pigb A G 9: 72,924,714 (GRCm39) S482P probably benign Het
Pkd1l2 T A 8: 117,767,574 (GRCm39) T1239S possibly damaging Het
Pou1f1 T C 16: 65,328,842 (GRCm39) I187T probably damaging Het
Prox1 C T 1: 189,893,327 (GRCm39) A373T probably benign Het
Rabgap1 T C 2: 37,451,962 (GRCm39) I954T probably benign Het
Scube3 T G 17: 28,383,110 (GRCm39) C429W probably damaging Het
Slco6b1 T A 1: 96,852,058 (GRCm39) noncoding transcript Het
Strc A T 2: 121,199,539 (GRCm39) I1300N probably damaging Het
Tdrd6 T A 17: 43,935,629 (GRCm39) R1806S probably benign Het
Trpm8 T A 1: 88,288,438 (GRCm39) L860Q probably damaging Het
Vmn1r8 A G 6: 57,013,605 (GRCm39) R219G probably damaging Het
Wdr48 A G 9: 119,753,826 (GRCm39) S649G probably damaging Het
Other mutations in Mmgt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01822:Mmgt2 APN 11 62,555,832 (GRCm39) missense possibly damaging 0.88
R4133:Mmgt2 UTSW 11 62,555,877 (GRCm39) missense probably damaging 1.00
R5172:Mmgt2 UTSW 11 62,555,954 (GRCm39) missense possibly damaging 0.88
R5447:Mmgt2 UTSW 11 62,555,824 (GRCm39) nonsense probably null
Z1177:Mmgt2 UTSW 11 62,555,900 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16