Incidental Mutation 'R1165:Slc19a2'
ID 100896
Institutional Source Beutler Lab
Gene Symbol Slc19a2
Ensembl Gene ENSMUSG00000040918
Gene Name solute carrier family 19 (thiamine transporter), member 2
Synonyms TRMA, DDA1, THTR1
MMRRC Submission 039238-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R1165 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 164076615-164092954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 164091014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 274 (G274D)
Ref Sequence ENSEMBL: ENSMUSP00000131327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044021] [ENSMUST00000159230] [ENSMUST00000169394]
AlphaFold Q9EQN9
Predicted Effect probably damaging
Transcript: ENSMUST00000044021
AA Change: G475D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037561
Gene: ENSMUSG00000040918
AA Change: G475D

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
Pfam:Folate_carrier 28 459 2.7e-180 PFAM
Pfam:MFS_1 34 441 2.6e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159230
AA Change: G437D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123870
Gene: ENSMUSG00000040918
AA Change: G437D

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
Pfam:Folate_carrier 28 421 1.6e-176 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160773
Predicted Effect probably damaging
Transcript: ENSMUST00000169394
AA Change: G274D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131327
Gene: ENSMUSG00000040918
AA Change: G274D

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
Pfam:Folate_carrier 28 70 3.7e-17 PFAM
Pfam:Folate_carrier 65 258 6.7e-85 PFAM
Meta Mutation Damage Score 0.1605 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for targeted null alleles exhibit a grossly normal phenotype except for reduced testis size and male infertility. On a low-thiamine diet, mutants show premature death and sensorineural deafness, while homozygotes for one targeted allele also display diabetes mellitus and megaloblastosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T G 13: 77,482,406 (GRCm39) C1209G probably benign Het
Abcg2 C A 6: 58,655,285 (GRCm39) L407I probably benign Het
Adtrp A G 13: 41,967,779 (GRCm39) V56A probably damaging Het
Angptl6 T G 9: 20,789,604 (GRCm39) N96T probably benign Het
Ank3 C A 10: 69,734,132 (GRCm39) N780K possibly damaging Het
AU040320 A T 4: 126,717,433 (GRCm39) probably benign Het
Best2 C T 8: 85,737,789 (GRCm39) R202H probably benign Het
Bod1l A T 5: 41,978,396 (GRCm39) S973T probably benign Het
Brca2 T A 5: 150,466,212 (GRCm39) V1992E probably damaging Het
Casp8ap2 C T 4: 32,640,563 (GRCm39) P539L probably benign Het
Ccr1 A T 9: 123,763,531 (GRCm39) V333E possibly damaging Het
Celf5 A T 10: 81,307,172 (GRCm39) V83E probably damaging Het
Col15a1 T C 4: 47,257,275 (GRCm39) probably benign Het
Coro1b C A 19: 4,199,901 (GRCm39) H81N probably damaging Het
Cwc22 A T 2: 77,734,242 (GRCm39) S686T probably damaging Het
Cyp2d26 C A 15: 82,678,242 (GRCm39) G45W probably damaging Het
Dysf T A 6: 84,044,051 (GRCm39) N297K probably damaging Het
Edem1 T A 6: 108,828,214 (GRCm39) L513Q probably damaging Het
Erich1 G A 8: 14,140,530 (GRCm39) probably benign Het
Fam91a1 T C 15: 58,302,518 (GRCm39) V286A possibly damaging Het
Fdxr C A 11: 115,162,608 (GRCm39) probably benign Het
Gas7 T C 11: 67,561,512 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,705,397 (GRCm39) D151G probably damaging Het
Gm14410 A C 2: 176,885,282 (GRCm39) Y327* probably null Het
Grep1 A C 17: 23,929,489 (GRCm39) probably benign Het
H6pd A G 4: 150,080,413 (GRCm39) I136T possibly damaging Het
Hectd1 A T 12: 51,810,947 (GRCm39) probably benign Het
Hipk1 T C 3: 103,668,840 (GRCm39) T519A possibly damaging Het
Hpd A G 5: 123,314,153 (GRCm39) probably null Het
Insyn2b A G 11: 34,352,740 (GRCm39) T261A probably benign Het
Or6c76 A G 10: 129,612,302 (GRCm39) D188G probably damaging Het
Or7c19 T A 8: 85,957,400 (GRCm39) I92N probably damaging Het
Pcdha11 A G 18: 37,140,757 (GRCm39) probably benign Het
Pdgfrb T C 18: 61,197,074 (GRCm39) I170T probably benign Het
Rasgrp1 A T 2: 117,115,420 (GRCm39) F723I possibly damaging Het
Retnlg A G 16: 48,694,017 (GRCm39) T58A possibly damaging Het
Rrs1 G A 1: 9,615,992 (GRCm39) E82K probably damaging Het
Rtel1 A G 2: 180,976,732 (GRCm39) K243E probably benign Het
Slc22a27 T C 19: 7,887,059 (GRCm39) probably null Het
Slc6a1 T C 6: 114,288,790 (GRCm39) F266L probably damaging Het
Snx25 T G 8: 46,488,752 (GRCm39) I868L probably damaging Het
Spag16 A G 1: 70,036,036 (GRCm39) I355V probably benign Het
Tmem198 A T 1: 75,456,576 (GRCm39) probably benign Het
Traf3ip3 A C 1: 192,866,786 (GRCm39) S349A probably damaging Het
Trim17 A G 11: 58,862,041 (GRCm39) N358D possibly damaging Het
Trmu A G 15: 85,776,875 (GRCm39) T196A probably damaging Het
Tsen2 A G 6: 115,538,396 (GRCm39) Y291C probably damaging Het
Vps13d A G 4: 144,853,041 (GRCm39) F2358L probably benign Het
Wnt2 T C 6: 17,989,946 (GRCm39) H317R probably benign Het
Zfp120 A T 2: 149,961,849 (GRCm39) V33E probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Other mutations in Slc19a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01464:Slc19a2 APN 1 164,088,430 (GRCm39) missense probably damaging 1.00
IGL03231:Slc19a2 APN 1 164,088,449 (GRCm39) missense probably damaging 1.00
R0324:Slc19a2 UTSW 1 164,084,344 (GRCm39) missense probably damaging 1.00
R0709:Slc19a2 UTSW 1 164,084,367 (GRCm39) missense probably damaging 1.00
R1117:Slc19a2 UTSW 1 164,091,025 (GRCm39) missense possibly damaging 0.86
R1463:Slc19a2 UTSW 1 164,084,766 (GRCm39) missense probably damaging 0.98
R1833:Slc19a2 UTSW 1 164,089,753 (GRCm39) missense probably damaging 1.00
R2148:Slc19a2 UTSW 1 164,089,657 (GRCm39) missense probably damaging 1.00
R2680:Slc19a2 UTSW 1 164,076,982 (GRCm39) missense probably damaging 1.00
R4010:Slc19a2 UTSW 1 164,088,451 (GRCm39) missense probably damaging 1.00
R5850:Slc19a2 UTSW 1 164,091,025 (GRCm39) missense probably benign 0.00
R6279:Slc19a2 UTSW 1 164,084,344 (GRCm39) missense probably damaging 1.00
R6300:Slc19a2 UTSW 1 164,084,344 (GRCm39) missense probably damaging 1.00
R6907:Slc19a2 UTSW 1 164,090,323 (GRCm39) missense possibly damaging 0.79
R6917:Slc19a2 UTSW 1 164,088,578 (GRCm39) missense probably damaging 1.00
R6982:Slc19a2 UTSW 1 164,084,428 (GRCm39) missense possibly damaging 0.88
R6993:Slc19a2 UTSW 1 164,088,391 (GRCm39) missense probably benign 0.00
R7424:Slc19a2 UTSW 1 164,088,445 (GRCm39) missense probably benign 0.31
R7575:Slc19a2 UTSW 1 164,084,691 (GRCm39) missense probably damaging 1.00
R8193:Slc19a2 UTSW 1 164,084,794 (GRCm39) missense probably benign 0.13
R8831:Slc19a2 UTSW 1 164,084,443 (GRCm39) missense probably damaging 1.00
R9424:Slc19a2 UTSW 1 164,076,895 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15