Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R0437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83012523-83038448 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83022565 bp

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]

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
1110051M20Rik	A	G	2: 91,421,953	L21P	probably damaging	Het
4833420G17Rik	G	A	13: 119,470,095	R291K	probably benign	Het
4932438A13Rik	A	T	3: 36,989,804	H2820L	possibly damaging	Het
Abca2	T	C	2: 25,442,845	S1519P	probably damaging	Het
Abcb11	G	A	2: 69,257,295	A1042V	probably damaging	Het
Abcc10	A	T	17: 46,312,919		probably null	Het
Abcc10	G	T	17: 46,312,920		probably benign	Het
Alkbh3	A	C	2: 93,981,569	L240V	probably damaging	Het
Apol10b	T	C	15: 77,585,408	S190G	probably benign	Het
Atp1a3	C	A	7: 24,998,967	C135F	probably benign	Het
Atp4a	C	G	7: 30,720,101	R659G	probably benign	Het
BC030499	T	C	11: 78,291,536	L57P	probably benign	Het
Bicra	A	G	7: 15,988,762	S277P	possibly damaging	Het
Bmp8a	T	C	4: 123,316,897	E275G	probably benign	Het
Ccdc102a	T	C	8: 94,913,426	E80G	probably damaging	Het
Cdh23	T	C	10: 60,410,797	D954G	probably damaging	Het
Chrm4	A	G	2: 91,928,443	T399A	possibly damaging	Het
Clcn3	A	G	8: 60,934,537	V199A	possibly damaging	Het
Crlf1	T	C	8: 70,499,514		probably null	Het
Crx	G	T	7: 15,871,146	S57*	probably null	Het
Cyp4f16	A	G	17: 32,537,098	I34V	possibly damaging	Het
Daxx	T	C	17: 33,913,624	V576A	probably benign	Het
Ddx17	C	T	15: 79,537,471	R351H	probably damaging	Het
Dhx38	T	C	8: 109,558,629		probably benign	Het
Dnd1	T	C	18: 36,764,499		probably benign	Het
Dync1i2	A	T	2: 71,227,825		probably null	Het
E2f6	T	C	12: 16,816,445	S52P	probably benign	Het
Epb41l4a	A	G	18: 33,880,273	F116S	probably damaging	Het
Ext1	T	C	15: 53,106,106	N362S	probably damaging	Het
Fam227a	C	A	15: 79,643,988	K79N	possibly damaging	Het
Fam228a	T	A	12: 4,732,759	L111F	probably damaging	Het
Fat2	T	C	11: 55,282,799	T2363A	probably benign	Het
Fat3	A	T	9: 15,996,932	N2591K	probably damaging	Het
Frem2	A	G	3: 53,653,015	M1357T	possibly damaging	Het
Frmd4b	A	T	6: 97,423,463	V29D	probably damaging	Het
G930045G22Rik	A	G	6: 50,846,938		noncoding transcript	Het
Galnt3	A	G	2: 66,107,229	S46P	possibly damaging	Het
Gmeb2	A	G	2: 181,253,973	V468A	possibly damaging	Het
Herc2	C	T	7: 56,219,815	R4271*	probably null	Het
Il5	C	A	11: 53,723,906		probably benign	Het
Ints9	G	A	14: 64,986,369		probably benign	Het
Itga10	T	C	3: 96,649,137	F196S	probably damaging	Het
Itgb3bp	T	C	4: 99,781,889	T138A	probably damaging	Het
Kcnd1	G	A	X: 7,824,683	V281M	probably benign	Het
Lcp2	T	C	11: 34,087,229	L391P	probably benign	Het
Lrrc66	T	C	5: 73,607,687	Y671C	probably benign	Het
Mettl23	T	C	11: 116,849,294	V197A	possibly damaging	Het
Mmp15	C	A	8: 95,370,772	D456E	probably benign	Het
Mospd4	T	C	18: 46,465,781		noncoding transcript	Het
Mov10l1	C	A	15: 89,005,312	H484N	probably damaging	Het
Mphosph9	T	C	5: 124,315,568	Q197R	probably benign	Het
Ms4a1	T	A	19: 11,256,569		probably null	Het
Mybbp1a	T	C	11: 72,448,848	V919A	possibly damaging	Het
Mycbpap	A	T	11: 94,513,512		probably benign	Het
Naip6	G	A	13: 100,296,924	S1135F	possibly damaging	Het
Ndufc2	T	A	7: 97,400,337	M50K	probably benign	Het
Npr2	T	C	4: 43,648,082	V842A	probably damaging	Het
Ntsr2	G	T	12: 16,653,695	G66W	probably damaging	Het
Obscn	T	C	11: 58,995,088		probably benign	Het
Olfr1206	T	A	2: 88,864,885	N93K	probably benign	Het
Olfr1219	T	A	2: 89,074,612	I160F	probably benign	Het
Olfr427	G	A	1: 174,100,399	G314R	probably benign	Het
Olfr820	T	C	10: 130,018,096	V245A	probably damaging	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Otud4	T	A	8: 79,669,997	H628Q	probably benign	Het
Padi6	T	C	4: 140,728,929	T585A	probably benign	Het
Pex16	G	T	2: 92,375,592	R10L	probably damaging	Het
Pitpnm2	A	G	5: 124,131,089		probably benign	Het
Pom121l2	A	G	13: 21,983,205	T549A	possibly damaging	Het
Prdm15	A	T	16: 97,812,559	M470K	probably benign	Het
Prkag2	T	A	5: 25,028,505	D49V	possibly damaging	Het
Prl3c1	A	G	13: 27,199,464	M38V	probably benign	Het
Prpf18	T	A	2: 4,643,761	I85F	possibly damaging	Het
Psg27	A	G	7: 18,560,711		probably benign	Het
Relt	A	G	7: 100,848,784		probably benign	Het
Serpina3b	A	T	12: 104,130,670	N70I	probably damaging	Het
Slc39a5	T	C	10: 128,399,847	T81A	possibly damaging	Het
Slc7a2	G	A	8: 40,904,526	G277D	probably damaging	Het
Slc9c1	C	T	16: 45,599,887		probably benign	Het
Slx1b	A	G	7: 126,692,581	F104L	probably benign	Het
Smg6	G	A	11: 74,929,701	S266N	probably damaging	Het
Spata9	T	C	13: 75,998,495	V162A	possibly damaging	Het
Szrd1	T	C	4: 141,118,744	I47V	probably benign	Het
Tha1	G	T	11: 117,868,575	L363M	probably benign	Het
Tmc6	G	A	11: 117,778,261	T89I	possibly damaging	Het
Tmem132d	C	T	5: 127,789,785	G684R	probably damaging	Het
Trim55	G	A	3: 19,670,978	G220S	probably benign	Het
Ttn	A	G	2: 76,770,530	L18836P	probably damaging	Het
Ubn1	G	T	16: 5,072,184		probably benign	Het
Ush2a	T	G	1: 188,911,031	W4197G	probably benign	Het
Vmn1r189	A	T	13: 22,102,061	V202E	probably damaging	Het
Vmn1r209	T	C	13: 22,806,356	I55V	probably benign	Het
Vmn2r86	A	T	10: 130,446,543	C735S	probably damaging	Het
Vwf	A	T	6: 125,566,318	D174V	probably damaging	Het
Zfp438	T	C	18: 5,214,910	N16S	probably damaging	Het
Zfp444	C	T	7: 6,189,409	T142I	probably benign	Het
Zfp804a	A	G	2: 82,053,791	M1V	probably null	Het
Zfp936	T	G	7: 43,189,310	I67S	probably benign	Het
Zfp948	A	T	17: 21,586,998	N151Y	unknown	Het

Other mutations in Slc19a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03066:Slc19a3	APN	1	83014836	missense	probably damaging	0.99
tag	UTSW	1	83026260	missense	probably damaging	1.00
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

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