Incidental Mutation 'IGL03066:Slc19a3'
ID409715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc19a3
Ensembl Gene ENSMUSG00000038496
Gene Namesolute carrier family 19, member 3
SynonymsThTr2, A230084E24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #IGL03066
Quality Score
Status
Chromosome1
Chromosomal Location83012523-83038448 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83014836 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 388 (I388T)
Ref Sequence ENSEMBL: ENSMUSP00000126646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045560] [ENSMUST00000164473]
Predicted Effect probably damaging
Transcript: ENSMUST00000045560
AA Change: I388T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041683
Gene: ENSMUSG00000038496
AA Change: I388T

DomainStartEndE-ValueType
Pfam:Folate_carrier 11 435 1.4e-178 PFAM
Pfam:MFS_1 16 416 1.6e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142805
Predicted Effect probably damaging
Transcript: ENSMUST00000164473
AA Change: I388T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126646
Gene: ENSMUSG00000038496
AA Change: I388T

DomainStartEndE-ValueType
Pfam:Folate_carrier 11 435 1.3e-178 PFAM
Pfam:MFS_1 16 416 1.9e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189789
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 a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death within a year of age, impaired thiamin uptake, lethargy, cachexia, injured liver parenchyma, hepatic necrosis, liver and kidney inflammmation, and nephrosclerosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brd4 A C 17: 32,199,088 probably benign Het
Cd209d C A 8: 3,878,437 probably null Het
Cela2a T A 4: 141,821,454 I124F probably damaging Het
Cnot2 A T 10: 116,499,357 N245K probably benign Het
Cpt2 A G 4: 107,907,986 F148L probably benign Het
Ctsj A C 13: 61,004,488 H21Q possibly damaging Het
Cul4a A G 8: 13,133,776 N388S probably benign Het
Dnah12 A G 14: 26,697,398 D147G probably benign Het
Dnhd1 A G 7: 105,719,882 T4287A probably damaging Het
Dock10 C A 1: 80,585,041 C534F probably benign Het
Efcab14 A G 4: 115,738,804 E49G probably benign Het
Fancm G T 12: 65,125,114 E86* probably null Het
Galnt17 A T 5: 130,900,648 S440R probably benign Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Lctl T G 9: 64,117,735 M1R probably null Het
Llgl1 A G 11: 60,706,034 T154A possibly damaging Het
Mink1 G T 11: 70,608,889 V750F probably benign Het
Mroh7 A G 4: 106,692,398 V950A possibly damaging Het
Myg1 G A 15: 102,334,366 probably benign Het
Olfr1265 A T 2: 90,037,434 I172F probably damaging Het
Olfr1415 T A 1: 92,491,583 R57S probably damaging Het
Olfr77 A G 9: 19,920,371 H54R probably benign Het
Pask A T 1: 93,330,866 S253R probably benign Het
Pkd1 C A 17: 24,586,234 H3253Q probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Rapgef4 A G 2: 72,141,179 probably benign Het
Rnf169 G T 7: 99,925,553 R612S possibly damaging Het
Sclt1 A T 3: 41,717,843 D104E probably benign Het
Shh G T 5: 28,461,371 D172E probably damaging Het
Sil1 G T 18: 35,269,206 probably benign Het
Spink5 A G 18: 44,016,390 Y946C probably damaging Het
Sulf1 A T 1: 12,807,944 I219F probably damaging Het
Tcf3 T C 10: 80,413,045 D529G probably damaging Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Txnip G A 3: 96,559,618 E203K probably damaging Het
Ubc G T 5: 125,388,263 probably benign Het
Ubxn4 A T 1: 128,260,854 probably null Het
Usp16 T C 16: 87,471,833 V284A probably damaging Het
Vmn2r6 T A 3: 64,565,153 N49I probably damaging Het
Ythdf1 A T 2: 180,911,546 I292N probably damaging Het
Zfp128 A G 7: 12,890,117 I137M probably benign Het
Other mutations in Slc19a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
tag UTSW 1 83026260 missense probably damaging 1.00
R0437:Slc19a3 UTSW 1 83022565 missense probably benign 0.00
R0526:Slc19a3 UTSW 1 83022733 missense probably damaging 1.00
R1160:Slc19a3 UTSW 1 83022692 missense possibly damaging 0.85
R1306:Slc19a3 UTSW 1 83022762 missense probably damaging 1.00
R1832:Slc19a3 UTSW 1 83022747 missense probably damaging 0.99
R1938:Slc19a3 UTSW 1 83019368 missense possibly damaging 0.76
R1961:Slc19a3 UTSW 1 83022798 missense probably benign 0.00
R2058:Slc19a3 UTSW 1 83014791 missense probably damaging 0.98
R2200:Slc19a3 UTSW 1 83022943 missense probably damaging 0.96
R2245:Slc19a3 UTSW 1 83013970 missense possibly damaging 0.84
R2261:Slc19a3 UTSW 1 83022957 missense probably damaging 1.00
R2404:Slc19a3 UTSW 1 83023035 missense probably benign 0.16
R3891:Slc19a3 UTSW 1 83022957 missense probably damaging 1.00
R3892:Slc19a3 UTSW 1 83022957 missense probably damaging 1.00
R3907:Slc19a3 UTSW 1 83014813 missense possibly damaging 0.76
R3912:Slc19a3 UTSW 1 83022703 missense probably benign 0.09
R3922:Slc19a3 UTSW 1 83022957 missense probably damaging 1.00
R3923:Slc19a3 UTSW 1 83022957 missense probably damaging 1.00
R3961:Slc19a3 UTSW 1 83022957 missense probably damaging 1.00
R4083:Slc19a3 UTSW 1 83022957 missense probably damaging 1.00
R4106:Slc19a3 UTSW 1 83022957 missense probably damaging 1.00
R4107:Slc19a3 UTSW 1 83022957 missense probably damaging 1.00
R4109:Slc19a3 UTSW 1 83022957 missense probably damaging 1.00
R4667:Slc19a3 UTSW 1 83022799 missense probably benign
R4768:Slc19a3 UTSW 1 83023113 missense probably damaging 1.00
R4769:Slc19a3 UTSW 1 83019341 missense probably damaging 1.00
R5001:Slc19a3 UTSW 1 83022620 missense probably benign 0.33
R5538:Slc19a3 UTSW 1 83022561 missense possibly damaging 0.51
R5588:Slc19a3 UTSW 1 83023055 nonsense probably null
R6143:Slc19a3 UTSW 1 83026339 missense probably benign 0.00
R6546:Slc19a3 UTSW 1 83026360 missense probably benign 0.02
R6547:Slc19a3 UTSW 1 83022900 missense probably damaging 1.00
R7059:Slc19a3 UTSW 1 83022369 missense probably damaging 1.00
R7497:Slc19a3 UTSW 1 83013928 missense probably damaging 1.00
R7509:Slc19a3 UTSW 1 83026260 missense probably damaging 1.00
R7584:Slc19a3 UTSW 1 83022748 missense possibly damaging 0.79
R7810:Slc19a3 UTSW 1 83019441 missense probably benign 0.02
R8150:Slc19a3 UTSW 1 83022495 missense probably damaging 1.00
R8412:Slc19a3 UTSW 1 83014812 missense probably damaging 0.97
Posted On2016-08-02