Incidental Mutation 'IGL01822:Mmgt2'
ID154574
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 #IGL01822
Quality Score
Status
Chromosome11
Chromosomal Location62648664-62666354 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 62665006 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 60 (V60A)
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 benign
Transcript: ENSMUST00000127589
Predicted Effect possibly damaging
Transcript: ENSMUST00000129162
AA Change: V60A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128669
Gene: ENSMUSG00000048497
AA Change: V60A

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 possibly damaging
Transcript: ENSMUST00000155759
AA Change: V60A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128697
Gene: ENSMUSG00000048497
AA Change: V60A

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cald1 A T 6: 34,753,572 T269S probably damaging Het
Cntnap5c T A 17: 58,055,705 I351N probably damaging Het
Dhcr7 T A 7: 143,845,499 I296N probably damaging Het
Dnah17 A G 11: 118,081,993 F2038S probably damaging Het
Dsel A G 1: 111,861,896 L303P probably damaging Het
Fabp12 G A 3: 10,246,022 R127* probably null Het
Fgf12 A T 16: 28,189,599 S150T possibly damaging Het
Fkbp15 A G 4: 62,352,504 M32T probably benign Het
Lrrc66 G A 5: 73,629,968 T13I probably benign Het
Neb G T 2: 52,258,746 S2596R possibly damaging Het
Nfkbib T C 7: 28,761,709 D171G probably benign Het
Oas1a T C 5: 120,899,214 E250G probably benign Het
Olfr1197 A T 2: 88,728,792 I269N probably benign Het
Olfr134 C A 17: 38,175,448 D121E probably damaging Het
Rnf182 T C 13: 43,668,032 C20R probably damaging Het
Scn3a T C 2: 65,495,264 K970E probably damaging Het
Slc30a2 T A 4: 134,348,637 Y192N probably damaging Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Vmn2r100 T A 17: 19,504,838 C10S probably null Het
Vmn2r61 A T 7: 42,300,706 H850L probably benign Het
Vmn2r87 T C 10: 130,472,122 Y749C probably damaging Het
Wnt5b A T 6: 119,433,472 C336S probably damaging Het
Zfp398 G A 6: 47,866,271 R287Q probably damaging Het
Other mutations in Mmgt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02416:Mmgt2 APN 11 62664877 missense probably damaging 1.00
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 On2014-02-04