Incidental Mutation 'R1165:Slc19a2'
ID100896
Institutional Source Beutler Lab
Gene Symbol Slc19a2
Ensembl Gene ENSMUSG00000040918
Gene Namesolute carrier family 19 (thiamine transporter), member 2
SynonymsTRMA, DDA1, THTR1
MMRRC Submission 039238-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.166) question?
Stock #R1165 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location164249046-164265385 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 164263445 bp
ZygosityHeterozygous
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]
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
1520401A03Rik A C 17: 23,710,515 probably benign Het
2210408I21Rik T G 13: 77,334,287 C1209G probably benign Het
Abcg2 C A 6: 58,678,300 L407I probably benign Het
Adtrp A G 13: 41,814,303 V56A probably damaging Het
Angptl6 T G 9: 20,878,308 N96T probably benign Het
Ank3 C A 10: 69,898,302 N780K possibly damaging Het
AU040320 A T 4: 126,823,640 probably benign Het
Best2 C T 8: 85,011,160 R202H probably benign Het
Bod1l A T 5: 41,821,053 S973T probably benign Het
Brca2 T A 5: 150,542,747 V1992E probably damaging Het
Casp8ap2 C T 4: 32,640,563 P539L probably benign Het
Ccr1 A T 9: 123,963,494 V333E possibly damaging Het
Celf5 A T 10: 81,471,338 V83E probably damaging Het
Col15a1 T C 4: 47,257,275 probably benign Het
Coro1b C A 19: 4,149,902 H81N probably damaging Het
Cwc22 A T 2: 77,903,898 S686T probably damaging Het
Cyp2d26 C A 15: 82,794,041 G45W probably damaging Het
Dysf T A 6: 84,067,069 N297K probably damaging Het
Edem1 T A 6: 108,851,253 L513Q probably damaging Het
Erich1 G A 8: 14,090,530 probably benign Het
Fam196b A G 11: 34,402,740 T261A probably benign Het
Fam91a1 T C 15: 58,430,669 V286A possibly damaging Het
Fdxr C A 11: 115,271,782 probably benign Het
Gas7 T C 11: 67,670,686 probably benign Het
Glb1l2 T C 9: 26,794,101 D151G probably damaging Het
Gm14410 A C 2: 177,193,489 Y327* probably null Het
H6pd A G 4: 149,995,956 I136T possibly damaging Het
Hectd1 A T 12: 51,764,164 probably benign Het
Hipk1 T C 3: 103,761,524 T519A possibly damaging Het
Hpd A G 5: 123,176,090 probably null Het
Olfr371 T A 8: 85,230,771 I92N probably damaging Het
Olfr809 A G 10: 129,776,433 D188G probably damaging Het
Pcdha11 A G 18: 37,007,704 probably benign Het
Pdgfrb T C 18: 61,064,002 I170T probably benign Het
Rasgrp1 A T 2: 117,284,939 F723I possibly damaging Het
Retnlg A G 16: 48,873,654 T58A possibly damaging Het
Rrs1 G A 1: 9,545,767 E82K probably damaging Het
Rtel1 A G 2: 181,334,939 K243E probably benign Het
Slc22a27 T C 19: 7,909,694 probably null Het
Slc6a1 T C 6: 114,311,829 F266L probably damaging Het
Snx25 T G 8: 46,035,715 I868L probably damaging Het
Spag16 A G 1: 69,996,877 I355V probably benign Het
Tmem198 A T 1: 75,479,932 probably benign Het
Traf3ip3 A C 1: 193,184,478 S349A probably damaging Het
Trim17 A G 11: 58,971,215 N358D possibly damaging Het
Trmu A G 15: 85,892,674 T196A probably damaging Het
Tsen2 A G 6: 115,561,435 Y291C probably damaging Het
Vps13d A G 4: 145,126,471 F2358L probably benign Het
Wnt2 T C 6: 17,989,947 H317R probably benign Het
Zfp120 A T 2: 150,119,929 V33E probably damaging Het
Zfp407 C T 18: 84,559,773 A1072T probably benign Het
Other mutations in Slc19a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01464:Slc19a2 APN 1 164260861 missense probably damaging 1.00
IGL03231:Slc19a2 APN 1 164260880 missense probably damaging 1.00
R0324:Slc19a2 UTSW 1 164256775 missense probably damaging 1.00
R0709:Slc19a2 UTSW 1 164256798 missense probably damaging 1.00
R1117:Slc19a2 UTSW 1 164263456 missense possibly damaging 0.86
R1463:Slc19a2 UTSW 1 164257197 missense probably damaging 0.98
R1833:Slc19a2 UTSW 1 164262184 missense probably damaging 1.00
R2148:Slc19a2 UTSW 1 164262088 missense probably damaging 1.00
R2680:Slc19a2 UTSW 1 164249413 missense probably damaging 1.00
R4010:Slc19a2 UTSW 1 164260882 missense probably damaging 1.00
R5850:Slc19a2 UTSW 1 164263456 missense probably benign 0.00
R6279:Slc19a2 UTSW 1 164256775 missense probably damaging 1.00
R6300:Slc19a2 UTSW 1 164256775 missense probably damaging 1.00
R6907:Slc19a2 UTSW 1 164262754 missense possibly damaging 0.79
R6917:Slc19a2 UTSW 1 164261009 missense probably damaging 1.00
R6982:Slc19a2 UTSW 1 164256859 missense possibly damaging 0.88
R6993:Slc19a2 UTSW 1 164260822 missense probably benign 0.00
R7424:Slc19a2 UTSW 1 164260876 missense probably benign 0.31
R7575:Slc19a2 UTSW 1 164257122 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15