Incidental Mutation 'IGL02416:Mmgt2'
ID292464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmgt2
Ensembl Gene ENSMUSG00000048497
Gene Namemembrane magnesium transporter 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02416
Quality Score
Status
Chromosome11
Chromosomal Location62648664-62666354 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 62664877 bp
ZygosityHeterozygous
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]
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: 68,572,833 N227S probably null Het
Adgrf5 T G 17: 43,444,980 probably null Het
Arid2 G A 15: 96,350,055 G116D possibly damaging Het
Arsa T A 15: 89,474,788 H225L probably damaging Het
Atf6 T A 1: 170,747,157 K571* probably null Het
Bicdl1 A C 5: 115,663,885 L38R probably damaging Het
Cct4 T C 11: 23,002,868 S515P probably damaging Het
Celsr3 A C 9: 108,832,119 D1388A probably damaging Het
Clca2 T C 3: 145,085,016 T432A probably benign Het
Des T A 1: 75,362,728 probably null Het
Dock11 T A X: 36,020,086 V1119E probably damaging Het
Dysf A G 6: 84,192,914 N1763S possibly damaging Het
Emilin1 A G 5: 30,917,788 S458G possibly damaging Het
Fhdc1 T G 3: 84,445,228 M897L probably benign Het
Foxj1 T C 11: 116,332,003 S325G probably benign Het
Gm5407 A G 16: 49,296,887 noncoding transcript Het
Gm6576 T C 15: 27,025,987 noncoding transcript Het
Hells G A 19: 38,964,627 S743N probably benign Het
Ighv2-9-1 A T 12: 113,770,111 L30Q probably damaging Het
Iqgap1 A T 7: 80,726,038 L1363H probably damaging Het
Lrp2 T C 2: 69,469,633 D3025G probably damaging Het
Mef2d C T 3: 88,156,502 R79C probably damaging Het
Mical1 G T 10: 41,484,810 probably null Het
Micu2 A T 14: 57,923,965 V300E probably damaging Het
Olfr1182 A G 2: 88,446,830 I36T probably benign Het
Olfr371 T A 8: 85,231,033 C179* probably null Het
Olfr873 A T 9: 20,300,245 E15V probably benign Het
Pigb A G 9: 73,017,432 S482P probably benign Het
Pkd1l2 T A 8: 117,040,835 T1239S possibly damaging Het
Pou1f1 T C 16: 65,531,956 I187T probably damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Rabgap1 T C 2: 37,561,950 I954T probably benign Het
Scube3 T G 17: 28,164,136 C429W probably damaging Het
Slco6b1 T A 1: 96,924,333 noncoding transcript Het
Strc A T 2: 121,369,058 I1300N probably damaging Het
Tdrd6 T A 17: 43,624,738 R1806S probably benign Het
Trpm8 T A 1: 88,360,716 L860Q probably damaging Het
Vmn1r8 A G 6: 57,036,620 R219G probably damaging Het
Wdr48 A G 9: 119,924,760 S649G probably damaging Het
Other mutations in Mmgt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01822:Mmgt2 APN 11 62665006 missense possibly damaging 0.88
R4133:Mmgt2 UTSW 11 62665051 missense probably damaging 1.00
R5172:Mmgt2 UTSW 11 62665128 missense possibly damaging 0.88
R5447:Mmgt2 UTSW 11 62664998 nonsense probably null
Z1177:Mmgt2 UTSW 11 62665074 missense probably damaging 1.00
Posted On2015-04-16