Incidental Mutation 'R8358:Magt1'
ID 645892
Institutional Source Beutler Lab
Gene Symbol Magt1
Ensembl Gene ENSMUSG00000031232
Gene Name magnesium transporter 1
Synonyms 2810482I07Rik, 2610529C04Rik, 2410001C15Rik
MMRRC Submission 067871-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8358 (G1)
Quality Score 221.999
Status Validated
Chromosome X
Chromosomal Location 105011690-105055408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 105040501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 100 (A100T)
Ref Sequence ENSEMBL: ENSMUSP00000033583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033583] [ENSMUST00000151689]
AlphaFold Q9CQY5
Predicted Effect probably benign
Transcript: ENSMUST00000033583
AA Change: A100T

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000033583
Gene: ENSMUSG00000031232
AA Change: A100T

DomainStartEndE-ValueType
low complexity region 42 62 N/A INTRINSIC
Pfam:Thioredoxin 85 206 1.1e-6 PFAM
Pfam:OST3_OST6 198 352 4.7e-55 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000109196
Gene: ENSMUSG00000031232
AA Change: A74T

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
Pfam:Thioredoxin 60 181 3e-7 PFAM
Pfam:OST3_OST6 175 325 3e-60 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000115579
Gene: ENSMUSG00000031232
AA Change: A72T

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:Thioredoxin 58 179 3.3e-7 PFAM
Pfam:OST3_OST6 173 310 4e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151689
AA Change: A100T

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120994
Gene: ENSMUSG00000031232
AA Change: A100T

DomainStartEndE-ValueType
low complexity region 42 62 N/A INTRINSIC
Pfam:Thioredoxin 85 206 4.7e-7 PFAM
Pfam:OST3_OST6 200 350 3e-59 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a magnesium cation transporter protein that localizes to the cell membrane. This protein also associates with N-oligosaccharyl transferase and therefore may have a role in N-glycosylation. Mutations in this gene cause mental retardation X-linked type 95 (MRX95). This gene may have multiple in-frame translation initiation sites, one of which would encode a shorter protein with an N-terminus containing a signal peptide at amino acids 1-29. [provided by RefSeq, Jan 2010]
PHENOTYPE: Male mice hemizygous for one gene trap allele exhibit decreased T cell number and increased B cell numbers with increased activation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,367,796 (GRCm39) S52P possibly damaging Het
Adamts19 G T 18: 59,181,881 (GRCm39) G1107C probably damaging Het
Afap1 A T 5: 36,131,830 (GRCm39) T386S probably benign Het
Alg12 T C 15: 88,695,503 (GRCm39) Y331C probably null Het
Aste1 T A 9: 105,274,255 (GRCm39) I165N probably damaging Het
Atp13a5 A G 16: 29,167,805 (GRCm39) I118T probably damaging Het
AW551984 A G 9: 39,510,651 (GRCm39) V228A probably damaging Het
Cachd1 A G 4: 100,816,668 (GRCm39) Y357C possibly damaging Het
Cacul1 T A 19: 60,551,673 (GRCm39) H183L possibly damaging Het
Casp16 T A 17: 23,772,348 (GRCm39) I39F probably damaging Het
Chd7 G T 4: 8,839,529 (GRCm39) C1355F probably damaging Het
Csnk1a1 A G 18: 61,713,610 (GRCm39) probably null Het
Ctif G A 18: 75,698,115 (GRCm39) H182Y possibly damaging Het
Cubn C T 2: 13,329,971 (GRCm39) V2637I probably benign Het
Dlx1 T A 2: 71,360,652 (GRCm39) probably null Het
Dsp A G 13: 38,376,457 (GRCm39) N1414S possibly damaging Het
Erich6 A T 3: 58,544,449 (GRCm39) L46* probably null Het
Fcho2 G A 13: 98,862,282 (GRCm39) R804* probably null Het
Gas7 T A 11: 67,543,734 (GRCm39) I114N probably benign Het
Gpr137b T C 13: 13,533,929 (GRCm39) T376A probably benign Het
H2-T24 T C 17: 36,328,229 (GRCm39) M85V probably benign Het
Klk1b16 T A 7: 43,790,185 (GRCm39) C152S probably damaging Het
Lrrc31 G A 3: 30,753,932 (GRCm39) probably benign Het
Mki67 T C 7: 135,301,855 (GRCm39) K1060E possibly damaging Het
Nif3l1 A T 1: 58,491,288 (GRCm39) T213S probably benign Het
Oasl1 T A 5: 115,075,465 (GRCm39) F508L probably benign Het
Or10ak8 A T 4: 118,773,723 (GRCm39) *314R probably null Het
Or2a25 T C 6: 42,888,976 (GRCm39) V173A possibly damaging Het
Or4a80 C T 2: 89,582,423 (GRCm39) V250I probably benign Het
Or5b122 T C 19: 13,562,764 (GRCm39) L32P probably damaging Het
Psg23 T C 7: 18,348,522 (GRCm39) D95G probably benign Het
Ptprr T C 10: 115,884,180 (GRCm39) I79T probably benign Het
Resf1 C T 6: 149,228,076 (GRCm39) T374I probably damaging Het
Rhbg T A 3: 88,152,525 (GRCm39) N340Y probably damaging Het
Sash1 C A 10: 8,605,745 (GRCm39) V882L probably benign Het
Sharpin C T 15: 76,232,197 (GRCm39) V220I probably damaging Het
Slc22a22 T A 15: 57,108,243 (GRCm39) D524V probably damaging Het
Slc43a3 T C 2: 84,780,860 (GRCm39) Y362H probably benign Het
Slc4a3 T A 1: 75,530,359 (GRCm39) D687E probably damaging Het
Slco1a5 A G 6: 142,208,411 (GRCm39) S127P probably benign Het
Spg11 T C 2: 121,910,739 (GRCm39) I1213V possibly damaging Het
Synj2 T A 17: 6,074,080 (GRCm39) Y813* probably null Het
Tbc1d10a T C 11: 4,155,837 (GRCm39) M131T probably damaging Het
Tnfrsf19 C A 14: 61,208,634 (GRCm39) V296F probably benign Het
Trim45 T C 3: 100,834,634 (GRCm39) V439A probably damaging Het
Trim54 A G 5: 31,294,338 (GRCm39) T325A probably benign Het
Usp40 T C 1: 87,908,770 (GRCm39) E577G possibly damaging Het
Uts2r T A 11: 121,051,345 (GRCm39) Y70N probably damaging Het
Vmn1r72 T G 7: 11,404,310 (GRCm39) D46A probably damaging Het
Zfc3h1 T C 10: 115,240,198 (GRCm39) V577A probably benign Het
Zfp987 T G 4: 146,061,343 (GRCm39) H258Q probably damaging Het
Other mutations in Magt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02035:Magt1 APN X 105,027,382 (GRCm39) splice site probably null
IGL03190:Magt1 APN X 105,032,622 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- CAAACCTGCTACACAATTTTGGTTC -3'
(R):5'- CTGGTCTTCAGCTGTTGAGC -3'

Sequencing Primer
(F):5'- GCTACACAATTTTGGTTCTTCTGAG -3'
(R):5'- ATTTTAACTTCCTGGGTAACTGC -3'
Posted On 2020-09-02