Incidental Mutation 'R2404:Slc19a3'
ID 248845
Institutional Source Beutler Lab
Gene Symbol Slc19a3
Ensembl Gene ENSMUSG00000038496
Gene Name solute carrier family 19, member 3
Synonyms ThTr2, A230084E24Rik
MMRRC Submission 040370-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R2404 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 82990244-83016169 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83000756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 87 (H87L)
Ref Sequence ENSEMBL: ENSMUSP00000126646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045560] [ENSMUST00000164473]
AlphaFold Q99PL8
Predicted Effect probably benign
Transcript: ENSMUST00000045560
AA Change: H87L

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000041683
Gene: ENSMUSG00000038496
AA Change: H87L

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 benign
Transcript: ENSMUST00000164473
AA Change: H87L

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000126646
Gene: ENSMUSG00000038496
AA Change: H87L

DomainStartEndE-ValueType
Pfam:Folate_carrier 11 435 1.3e-178 PFAM
Pfam:MFS_1 16 416 1.9e-17 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.2%
Validation Efficiency 98% (52/53)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,923 (GRCm39) T98A possibly damaging Het
Aifm2 A G 10: 61,563,974 (GRCm39) I161V probably benign Het
Arhgef26 T C 3: 62,336,336 (GRCm39) M625T possibly damaging Het
Atp9a T A 2: 168,517,283 (GRCm39) probably null Het
Avpr1a T C 10: 122,285,115 (GRCm39) F136L possibly damaging Het
Bcas3 T C 11: 85,245,715 (GRCm39) probably benign Het
Bnc1 A T 7: 81,618,463 (GRCm39) H867Q probably benign Het
Cdh12 C T 15: 21,537,720 (GRCm39) T407I probably damaging Het
Chd5 C T 4: 152,451,791 (GRCm39) T701M probably damaging Het
Dhx57 A G 17: 80,561,733 (GRCm39) V927A probably damaging Het
Dnah2 A G 11: 69,328,047 (GRCm39) F3353L probably damaging Het
Ect2 G A 3: 27,185,999 (GRCm39) P495S probably benign Het
Egfl7 G A 2: 26,479,162 (GRCm39) E25K possibly damaging Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Hbs1l A T 10: 21,171,946 (GRCm39) probably benign Het
Insrr C T 3: 87,709,974 (GRCm39) T309I possibly damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif12 A C 4: 63,088,790 (GRCm39) L170R probably damaging Het
Krt90 A G 15: 101,463,105 (GRCm39) probably null Het
Mcu A G 10: 59,303,526 (GRCm39) S104P probably damaging Het
Mical3 G A 6: 120,936,789 (GRCm39) P374S probably benign Het
Ncam2 A T 16: 81,287,128 (GRCm39) probably benign Het
Or12e9 A G 2: 87,202,568 (GRCm39) I231V probably benign Het
Or2t47 A T 11: 58,442,546 (GRCm39) I173N probably damaging Het
Or2w1b T C 13: 21,300,012 (GRCm39) L50P probably damaging Het
Or5k17 G A 16: 58,745,998 (GRCm39) S312L probably benign Het
Otud7a A G 7: 63,346,899 (GRCm39) S158G probably benign Het
Phlpp1 C T 1: 106,100,569 (GRCm39) T279M probably benign Het
Pkhd1l1 T G 15: 44,414,216 (GRCm39) W2828G probably damaging Het
Pnma8a A T 7: 16,694,316 (GRCm39) N57I probably damaging Het
Ppp4r4 A G 12: 103,547,749 (GRCm39) probably null Het
Ptprq T C 10: 107,522,460 (GRCm39) Y531C probably damaging Het
Rai1 A G 11: 60,080,750 (GRCm39) T1605A probably benign Het
Satb2 T C 1: 56,987,267 (GRCm39) Y106C probably damaging Het
Sgms1 G A 19: 32,137,072 (GRCm39) R165* probably null Het
Slc4a7 G T 14: 14,733,733 (GRCm38) V54L probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spen T C 4: 141,205,216 (GRCm39) N1137S unknown Het
Spice1 T C 16: 44,186,989 (GRCm39) I162T probably benign Het
Spmip1 G A 6: 29,473,390 (GRCm39) R173Q probably benign Het
Sqor A T 2: 122,649,943 (GRCm39) T396S probably benign Het
Tshz3 A T 7: 36,469,805 (GRCm39) Q598L probably damaging Het
Ttc13 C T 8: 125,405,736 (GRCm39) probably benign Het
Ubxn2a T C 12: 4,933,851 (GRCm39) T187A probably benign Het
Usp28 T C 9: 48,948,558 (GRCm39) probably null Het
Zc3h12a T C 4: 125,013,316 (GRCm39) Y516C probably damaging Het
Zfp616 A C 11: 73,975,682 (GRCm39) K650N probably damaging Het
Other mutations in Slc19a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03066:Slc19a3 APN 1 82,992,557 (GRCm39) missense probably damaging 0.99
tag UTSW 1 83,003,981 (GRCm39) missense probably damaging 1.00
R0437:Slc19a3 UTSW 1 83,000,286 (GRCm39) missense probably benign 0.00
R0526:Slc19a3 UTSW 1 83,000,454 (GRCm39) missense probably damaging 1.00
R1160:Slc19a3 UTSW 1 83,000,413 (GRCm39) missense possibly damaging 0.85
R1306:Slc19a3 UTSW 1 83,000,483 (GRCm39) missense probably damaging 1.00
R1832:Slc19a3 UTSW 1 83,000,468 (GRCm39) missense probably damaging 0.99
R1938:Slc19a3 UTSW 1 82,997,089 (GRCm39) missense possibly damaging 0.76
R1961:Slc19a3 UTSW 1 83,000,519 (GRCm39) missense probably benign 0.00
R2058:Slc19a3 UTSW 1 82,992,512 (GRCm39) missense probably damaging 0.98
R2200:Slc19a3 UTSW 1 83,000,664 (GRCm39) missense probably damaging 0.96
R2245:Slc19a3 UTSW 1 82,991,691 (GRCm39) missense possibly damaging 0.84
R2261:Slc19a3 UTSW 1 83,000,678 (GRCm39) missense probably damaging 1.00
R3891:Slc19a3 UTSW 1 83,000,678 (GRCm39) missense probably damaging 1.00
R3892:Slc19a3 UTSW 1 83,000,678 (GRCm39) missense probably damaging 1.00
R3907:Slc19a3 UTSW 1 82,992,534 (GRCm39) missense possibly damaging 0.76
R3912:Slc19a3 UTSW 1 83,000,424 (GRCm39) missense probably benign 0.09
R3922:Slc19a3 UTSW 1 83,000,678 (GRCm39) missense probably damaging 1.00
R3923:Slc19a3 UTSW 1 83,000,678 (GRCm39) missense probably damaging 1.00
R3961:Slc19a3 UTSW 1 83,000,678 (GRCm39) missense probably damaging 1.00
R4083:Slc19a3 UTSW 1 83,000,678 (GRCm39) missense probably damaging 1.00
R4106:Slc19a3 UTSW 1 83,000,678 (GRCm39) missense probably damaging 1.00
R4107:Slc19a3 UTSW 1 83,000,678 (GRCm39) missense probably damaging 1.00
R4109:Slc19a3 UTSW 1 83,000,678 (GRCm39) missense probably damaging 1.00
R4667:Slc19a3 UTSW 1 83,000,520 (GRCm39) missense probably benign
R4768:Slc19a3 UTSW 1 83,000,834 (GRCm39) missense probably damaging 1.00
R4769:Slc19a3 UTSW 1 82,997,062 (GRCm39) missense probably damaging 1.00
R5001:Slc19a3 UTSW 1 83,000,341 (GRCm39) missense probably benign 0.33
R5538:Slc19a3 UTSW 1 83,000,282 (GRCm39) missense possibly damaging 0.51
R5588:Slc19a3 UTSW 1 83,000,776 (GRCm39) nonsense probably null
R6143:Slc19a3 UTSW 1 83,004,060 (GRCm39) missense probably benign 0.00
R6546:Slc19a3 UTSW 1 83,004,081 (GRCm39) missense probably benign 0.02
R6547:Slc19a3 UTSW 1 83,000,621 (GRCm39) missense probably damaging 1.00
R7059:Slc19a3 UTSW 1 83,000,090 (GRCm39) missense probably damaging 1.00
R7497:Slc19a3 UTSW 1 82,991,649 (GRCm39) missense probably damaging 1.00
R7509:Slc19a3 UTSW 1 83,003,981 (GRCm39) missense probably damaging 1.00
R7584:Slc19a3 UTSW 1 83,000,469 (GRCm39) missense possibly damaging 0.79
R7810:Slc19a3 UTSW 1 82,997,162 (GRCm39) missense probably benign 0.02
R8150:Slc19a3 UTSW 1 83,000,216 (GRCm39) missense probably damaging 1.00
R8412:Slc19a3 UTSW 1 82,992,533 (GRCm39) missense probably damaging 0.97
R8970:Slc19a3 UTSW 1 83,000,822 (GRCm39) missense probably damaging 1.00
R9314:Slc19a3 UTSW 1 83,000,094 (GRCm39) missense possibly damaging 0.62
R9671:Slc19a3 UTSW 1 83,000,297 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCGACAGTAGCTGCTCACTTTC -3'
(R):5'- TCCCCAACAACTCCTTGGTG -3'

Sequencing Primer
(F):5'- GACAGTAGCTGCTCACTTTCTGATAG -3'
(R):5'- AACAACTCCTTGGTGGCTTATTTTTG -3'
Posted On 2014-11-11