Mutagenetix > Incidental Mutation

Incidental Mutation 'R0437:Slc19a3'

39035

Institutional Source

Beutler Lab

Gene Symbol

Slc19a3

Ensembl Gene

ENSMUSG00000038496

Gene Name

solute carrier family 19, member 3

Synonyms

ThTr2, A230084E24Rik

MMRRC Submission

038638-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R0437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82990244-83016169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83000286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 244 (S244G)

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: S244G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000041683
Gene: ENSMUSG00000038496
AA Change: S244G

Domain	Start	End	E-Value	Type
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: S244G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000126646
Gene: ENSMUSG00000038496
AA Change: S244G

Domain	Start	End	E-Value	Type
Pfam:Folate_carrier	11	435	1.3e-178	PFAM
Pfam:MFS_1	16	416	1.9e-17	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (104/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	A	13: 119,606,631 (GRCm39)	R291K	probably benign	Het
Abca2	T	C	2: 25,332,857 (GRCm39)	S1519P	probably damaging	Het
Abcb11	G	A	2: 69,087,639 (GRCm39)	A1042V	probably damaging	Het
Abcc10	A	T	17: 46,623,845 (GRCm39)		probably null	Het
Abcc10	G	T	17: 46,623,846 (GRCm39)		probably benign	Het
Alkbh3	A	C	2: 93,811,914 (GRCm39)	L240V	probably damaging	Het
Apol10b	T	C	15: 77,469,608 (GRCm39)	S190G	probably benign	Het
Atp1a3	C	A	7: 24,698,392 (GRCm39)	C135F	probably benign	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
Bicra	A	G	7: 15,722,687 (GRCm39)	S277P	possibly damaging	Het
Bltp1	A	T	3: 37,043,953 (GRCm39)	H2820L	possibly damaging	Het
Bmp8a	T	C	4: 123,210,690 (GRCm39)	E275G	probably benign	Het
Ccdc102a	T	C	8: 95,640,054 (GRCm39)	E80G	probably damaging	Het
Cdh23	T	C	10: 60,246,576 (GRCm39)	D954G	probably damaging	Het
Chrm4	A	G	2: 91,758,788 (GRCm39)	T399A	possibly damaging	Het
Clcn3	A	G	8: 61,387,571 (GRCm39)	V199A	possibly damaging	Het
Crlf1	T	C	8: 70,952,164 (GRCm39)		probably null	Het
Crx	G	T	7: 15,605,071 (GRCm39)	S57*	probably null	Het
Cstpp1	A	G	2: 91,252,298 (GRCm39)	L21P	probably damaging	Het
Cyp4f16	A	G	17: 32,756,072 (GRCm39)	I34V	possibly damaging	Het
Daxx	T	C	17: 34,132,598 (GRCm39)	V576A	probably benign	Het
Ddx17	C	T	15: 79,421,672 (GRCm39)	R351H	probably damaging	Het
Dhx38	T	C	8: 110,285,261 (GRCm39)		probably benign	Het
Dnd1	T	C	18: 36,897,552 (GRCm39)		probably benign	Het
Dync1i2	A	T	2: 71,058,169 (GRCm39)		probably null	Het
E2f6	T	C	12: 16,866,446 (GRCm39)	S52P	probably benign	Het
Epb41l4a	A	G	18: 34,013,326 (GRCm39)	F116S	probably damaging	Het
Ext1	T	C	15: 52,969,502 (GRCm39)	N362S	probably damaging	Het
Fam227a	C	A	15: 79,528,189 (GRCm39)	K79N	possibly damaging	Het
Fam228a	T	A	12: 4,782,759 (GRCm39)	L111F	probably damaging	Het
Fat2	T	C	11: 55,173,625 (GRCm39)	T2363A	probably benign	Het
Fat3	A	T	9: 15,908,228 (GRCm39)	N2591K	probably damaging	Het
Frem2	A	G	3: 53,560,436 (GRCm39)	M1357T	possibly damaging	Het
Frmd4b	A	T	6: 97,400,424 (GRCm39)	V29D	probably damaging	Het
G930045G22Rik	A	G	6: 50,823,918 (GRCm39)		noncoding transcript	Het
Galnt3	A	G	2: 65,937,573 (GRCm39)	S46P	possibly damaging	Het
Gmeb2	A	G	2: 180,895,766 (GRCm39)	V468A	possibly damaging	Het
Herc2	C	T	7: 55,869,563 (GRCm39)	R4271*	probably null	Het
Il5	C	A	11: 53,614,733 (GRCm39)		probably benign	Het
Ints9	G	A	14: 65,223,818 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,556,453 (GRCm39)	F196S	probably damaging	Het
Itgb3bp	T	C	4: 99,670,126 (GRCm39)	T138A	probably damaging	Het
Kcnd1	G	A	X: 7,690,922 (GRCm39)	V281M	probably benign	Het
Lcp2	T	C	11: 34,037,229 (GRCm39)	L391P	probably benign	Het
Lrrc66	T	C	5: 73,765,030 (GRCm39)	Y671C	probably benign	Het
Mettl23	T	C	11: 116,740,120 (GRCm39)	V197A	possibly damaging	Het
Mmp15	C	A	8: 96,097,400 (GRCm39)	D456E	probably benign	Het
Mospd4	T	C	18: 46,598,848 (GRCm39)		noncoding transcript	Het
Mov10l1	C	A	15: 88,889,515 (GRCm39)	H484N	probably damaging	Het
Mphosph9	T	C	5: 124,453,631 (GRCm39)	Q197R	probably benign	Het
Ms4a1	T	A	19: 11,233,933 (GRCm39)		probably null	Het
Mybbp1a	T	C	11: 72,339,674 (GRCm39)	V919A	possibly damaging	Het
Mycbpap	A	T	11: 94,404,338 (GRCm39)		probably benign	Het
Naip6	G	A	13: 100,433,432 (GRCm39)	S1135F	possibly damaging	Het
Ndufc2	T	A	7: 97,049,544 (GRCm39)	M50K	probably benign	Het
Npr2	T	C	4: 43,648,082 (GRCm39)	V842A	probably damaging	Het
Ntsr2	G	T	12: 16,703,696 (GRCm39)	G66W	probably damaging	Het
Obscn	T	C	11: 58,885,914 (GRCm39)		probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or4c11	T	A	2: 88,695,229 (GRCm39)	N93K	probably benign	Het
Or4c114	T	A	2: 88,904,956 (GRCm39)	I160F	probably benign	Het
Or6c33	T	C	10: 129,853,965 (GRCm39)	V245A	probably damaging	Het
Or6k14	G	A	1: 173,927,965 (GRCm39)	G314R	probably benign	Het
Otud4	T	A	8: 80,396,626 (GRCm39)	H628Q	probably benign	Het
Padi6	T	C	4: 140,456,240 (GRCm39)	T585A	probably benign	Het
Pex16	G	T	2: 92,205,937 (GRCm39)	R10L	probably damaging	Het
Pitpnm2	A	G	5: 124,269,152 (GRCm39)		probably benign	Het
Pom121l2	A	G	13: 22,167,375 (GRCm39)	T549A	possibly damaging	Het
Prdm15	A	T	16: 97,613,759 (GRCm39)	M470K	probably benign	Het
Prkag2	T	A	5: 25,233,503 (GRCm39)	D49V	possibly damaging	Het
Prl3c1	A	G	13: 27,383,447 (GRCm39)	M38V	probably benign	Het
Prpf18	T	A	2: 4,648,572 (GRCm39)	I85F	possibly damaging	Het
Psg27	A	G	7: 18,294,636 (GRCm39)		probably benign	Het
Relt	A	G	7: 100,497,991 (GRCm39)		probably benign	Het
Rskr	T	C	11: 78,182,362 (GRCm39)	L57P	probably benign	Het
Serpina3b	A	T	12: 104,096,929 (GRCm39)	N70I	probably damaging	Het
Slc39a5	T	C	10: 128,235,716 (GRCm39)	T81A	possibly damaging	Het
Slc7a2	G	A	8: 41,357,563 (GRCm39)	G277D	probably damaging	Het
Slc9c1	C	T	16: 45,420,250 (GRCm39)		probably benign	Het
Slx1b	A	G	7: 126,291,753 (GRCm39)	F104L	probably benign	Het
Smg6	G	A	11: 74,820,527 (GRCm39)	S266N	probably damaging	Het
Spata9	T	C	13: 76,146,614 (GRCm39)	V162A	possibly damaging	Het
Szrd1	T	C	4: 140,846,055 (GRCm39)	I47V	probably benign	Het
Tha1	G	T	11: 117,759,401 (GRCm39)	L363M	probably benign	Het
Tmc6	G	A	11: 117,669,087 (GRCm39)	T89I	possibly damaging	Het
Tmem132d	C	T	5: 127,866,849 (GRCm39)	G684R	probably damaging	Het
Trim55	G	A	3: 19,725,142 (GRCm39)	G220S	probably benign	Het
Ttn	A	G	2: 76,600,874 (GRCm39)	L18836P	probably damaging	Het
Ubn1	G	T	16: 4,890,048 (GRCm39)		probably benign	Het
Ush2a	T	G	1: 188,643,228 (GRCm39)	W4197G	probably benign	Het
Vmn1r189	A	T	13: 22,286,231 (GRCm39)	V202E	probably damaging	Het
Vmn1r209	T	C	13: 22,990,526 (GRCm39)	I55V	probably benign	Het
Vmn2r86	A	T	10: 130,282,412 (GRCm39)	C735S	probably damaging	Het
Vwf	A	T	6: 125,543,281 (GRCm39)	D174V	probably damaging	Het
Zfp438	T	C	18: 5,214,910 (GRCm39)	N16S	probably damaging	Het
Zfp444	C	T	7: 6,192,408 (GRCm39)	T142I	probably benign	Het
Zfp804a	A	G	2: 81,884,135 (GRCm39)	M1V	probably null	Het
Zfp936	T	G	7: 42,838,734 (GRCm39)	I67S	probably benign	Het
Zfp948	A	T	17: 21,807,260 (GRCm39)	N151Y	unknown	Het

Other mutations in Slc19a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R2404:Slc19a3	UTSW	1	83,000,756 (GRCm39)	missense	probably benign	0.16
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'- GTGCCTTGTGTTCCCATAGGACTTG -3'
(R):5'- TGACGAACCTGCCATACTCTAGCC -3'

Sequencing Primer
(F):5'- GTGTTCCCATAGGACTTGAACATAG -3'
(R):5'- ATATATCCTTGGCCTGTGTCTCTG -3'

Posted On

2013-05-23