Incidental Mutation 'IGL01464:Slc19a2'
ID88056
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc19a2
Ensembl Gene ENSMUSG00000040918
Gene Namesolute carrier family 19 (thiamine transporter), member 2
SynonymsTRMA, DDA1, THTR1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL01464
Quality Score
Status
Chromosome1
Chromosomal Location164249046-164265385 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 164260861 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 92 (S92P)
Ref Sequence ENSEMBL: ENSMUSP00000131327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044021] [ENSMUST00000159230] [ENSMUST00000169394]
Predicted Effect probably damaging
Transcript: ENSMUST00000044021
AA Change: S293P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037561
Gene: ENSMUSG00000040918
AA Change: S293P

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: S255P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123870
Gene: ENSMUSG00000040918
AA Change: S255P

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: S92P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131327
Gene: ENSMUSG00000040918
AA Change: S92P

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
Coding Region Coverage
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 C A 1: 165,546,587 H748Q probably damaging Het
Aebp1 T C 11: 5,869,822 V329A possibly damaging Het
Ankk1 T C 9: 49,415,972 T636A probably benign Het
Apoh A T 11: 108,395,890 I47F probably damaging Het
Atg9a A G 1: 75,190,366 S14P probably damaging Het
Calb1 T A 4: 15,881,485 probably benign Het
Cd86 T C 16: 36,620,953 S51G probably benign Het
Ctsll3 C T 13: 60,800,320 G181D probably damaging Het
Elmod2 G A 8: 83,316,792 probably benign Het
Ephx3 A G 17: 32,188,245 S240P probably damaging Het
Gm6583 A G 5: 112,355,533 S102P possibly damaging Het
Greb1 T C 12: 16,714,826 I435M probably damaging Het
Itpr1 A G 6: 108,386,727 D770G possibly damaging Het
Kmt2c G A 5: 25,352,244 T1155I possibly damaging Het
Lrp2 T C 2: 69,472,439 D2982G probably damaging Het
Map1b C T 13: 99,432,743 V1157I unknown Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Nlrp9b T A 7: 20,062,655 N976K probably benign Het
Nos1 T C 5: 117,943,192 F1153S probably damaging Het
Pnrc1 T C 4: 33,246,395 Y188C probably benign Het
Polr3a A C 14: 24,470,681 probably benign Het
Rgs22 T C 15: 36,083,641 T512A possibly damaging Het
Rhbdf2 C T 11: 116,600,908 G574S probably benign Het
Rnf123 T C 9: 108,052,302 D1217G probably damaging Het
Sycp2 A T 2: 178,401,632 I139N probably damaging Het
Vmn2r91 A G 17: 18,107,602 N486S probably null Het
Xpo1 T A 11: 23,267,703 H56Q probably damaging Het
Zbtb44 T A 9: 31,054,284 L330H probably damaging Het
Other mutations in Slc19a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1165:Slc19a2 UTSW 1 164263445 missense probably damaging 1.00
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
R8193:Slc19a2 UTSW 1 164257225 missense probably benign 0.13
Posted On2013-11-18