Mutagenetix > Incidental Mutation

Incidental Mutation 'R1961:Slc19a3'

317892

Institutional Source

Beutler Lab

Gene Symbol

Slc19a3

Ensembl Gene

ENSMUSG00000038496

Gene Name

solute carrier family 19, member 3

Synonyms

ThTr2, A230084E24Rik

MMRRC Submission

039975-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R1961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82990244-83016169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83000519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 166 (T166M)

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: T166M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041683
Gene: ENSMUSG00000038496
AA Change: T166M

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: T166M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126646
Gene: ENSMUSG00000038496
AA Change: T166M

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

99% (93/94)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Abcc4	C	A	14: 118,848,871 (GRCm39)	V494L	possibly damaging	Het
Abcc4	C	A	14: 118,848,868 (GRCm39)	G495C	probably damaging	Het
Acsm4	T	C	7: 119,307,963 (GRCm39)	Y367H	probably benign	Het
Adam21	A	T	12: 81,606,282 (GRCm39)	Y493*	probably null	Het
Add2	T	C	6: 86,073,738 (GRCm39)	F209S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aff4	T	G	11: 53,263,826 (GRCm39)	L282R	probably damaging	Het
Akt3	A	G	1: 176,924,561 (GRCm39)	I178T	probably damaging	Het
Ap3m1	T	C	14: 21,091,083 (GRCm39)	Y174C	probably damaging	Het
Arb2a	C	A	13: 78,050,839 (GRCm39)	H50N	probably benign	Het
Atl1	A	G	12: 70,000,274 (GRCm39)	E308G	probably benign	Het
Atp8b5	T	G	4: 43,369,688 (GRCm39)	V942G	probably damaging	Het
B3gntl1	A	G	11: 121,535,351 (GRCm39)		probably null	Het
Btrc	T	G	19: 45,515,782 (GRCm39)	I480S	probably damaging	Het
Cacna1c	A	T	6: 118,607,283 (GRCm39)	I1366N	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc167	T	C	17: 29,923,405 (GRCm39)	N77D	possibly damaging	Het
Ccser1	T	C	6: 61,290,630 (GRCm39)		probably benign	Het
Cenpe	A	G	3: 134,948,254 (GRCm39)	E1230G	probably damaging	Het
Clec12a	A	C	6: 129,327,444 (GRCm39)	T21P	possibly damaging	Het
Cyp26c1	T	A	19: 37,675,825 (GRCm39)	F230I	probably damaging	Het
Exog	A	G	9: 119,281,332 (GRCm39)	E190G	possibly damaging	Het
Fam162b	A	G	10: 51,466,430 (GRCm39)	W30R	probably benign	Het
Fndc3b	G	A	3: 27,510,600 (GRCm39)	Q841*	probably null	Het
Frzb	T	A	2: 80,254,945 (GRCm39)	Y197F	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gabrb1	G	A	5: 71,857,679 (GRCm39)	R43Q	probably benign	Het
Gm21060	A	T	19: 61,285,445 (GRCm39)	H21Q	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Gm5581	A	C	6: 131,145,125 (GRCm39)		noncoding transcript	Het
Gm9894	T	C	13: 67,912,034 (GRCm39)		noncoding transcript	Het
Gpr15	T	A	16: 58,538,370 (GRCm39)	I240L	probably benign	Het
Gria4	A	T	9: 4,519,546 (GRCm39)		probably benign	Het
Grid2	T	C	6: 63,885,877 (GRCm39)	L91S	probably damaging	Het
Igsf5	A	C	16: 96,179,551 (GRCm39)	T215P	probably damaging	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kif27	T	G	13: 58,440,937 (GRCm39)	R1159S	probably benign	Het
Kifc2	T	A	15: 76,547,025 (GRCm39)	L226H	probably damaging	Het
Klf10	T	C	15: 38,296,240 (GRCm39)	H435R	probably damaging	Het
Masp1	T	C	16: 23,271,682 (GRCm39)	Y623C	probably damaging	Het
Megf10	T	A	18: 57,345,426 (GRCm39)	C118S	probably damaging	Het
Mical3	A	G	6: 120,959,568 (GRCm39)	V909A	possibly damaging	Het
Mmrn2	A	G	14: 34,120,432 (GRCm39)		probably null	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Nmi	A	T	2: 51,838,632 (GRCm39)	S301T	probably benign	Het
Nr2f2	G	T	7: 70,007,903 (GRCm39)	T193K	possibly damaging	Het
Ntng2	T	C	2: 29,087,110 (GRCm39)	N404S	probably damaging	Het
Nup50l	A	G	6: 96,142,250 (GRCm39)	S265P	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or1x2	T	G	11: 50,918,302 (GRCm39)	S158A	probably benign	Het
Or52e3	T	C	7: 102,869,204 (GRCm39)	V93A	probably benign	Het
Otoa	T	A	7: 120,717,792 (GRCm39)	D336E	probably benign	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pdgfrb	G	A	18: 61,194,577 (GRCm39)	R118H	possibly damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pla2g3	C	T	11: 3,440,983 (GRCm39)	T316I	probably benign	Het
Plekhg4	A	G	8: 106,108,096 (GRCm39)	E982G	probably damaging	Het
Pmfbp1	T	G	8: 110,256,776 (GRCm39)		probably benign	Het
Pot1b	A	T	17: 55,969,531 (GRCm39)	Y546N	probably damaging	Het
Pphln1-ps1	T	A	16: 13,495,592 (GRCm39)	H230Q	probably benign	Het
Rab11fip5	C	A	6: 85,325,973 (GRCm39)	Q144H	possibly damaging	Het
Reep3	A	T	10: 66,875,278 (GRCm39)		probably null	Het
Rgl2	T	C	17: 34,152,589 (GRCm39)	L400P	probably damaging	Het
Rnf122	A	G	8: 31,614,874 (GRCm39)		probably benign	Het
Scgb1b21	G	T	7: 33,226,803 (GRCm39)		noncoding transcript	Het
Sec63	A	T	10: 42,699,882 (GRCm39)	K647N	probably damaging	Het
Sema4a	C	T	3: 88,345,483 (GRCm39)		probably benign	Het
Serpinf1	C	T	11: 75,307,245 (GRCm39)	V31I	probably benign	Het
Sez6l	C	T	5: 112,572,481 (GRCm39)		probably benign	Het
Shank3	T	C	15: 89,442,167 (GRCm39)	S1612P	possibly damaging	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc38a11	A	T	2: 65,160,683 (GRCm39)	F304I	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Slx4ip	A	G	2: 136,909,601 (GRCm39)	T129A	probably benign	Het
Spop	T	C	11: 95,382,537 (GRCm39)	V332A	possibly damaging	Het
Sptlc1	A	C	13: 53,512,916 (GRCm39)	D147E	probably benign	Het
Tnpo1	T	C	13: 98,989,440 (GRCm39)	Y754C	probably damaging	Het
Tox	C	A	4: 6,688,886 (GRCm39)	V493L	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttc27	T	A	17: 75,087,851 (GRCm39)	M472K	probably damaging	Het
Ttll7	A	G	3: 146,621,550 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,552,104 (GRCm39)	C22851S	probably benign	Het
Ttn	T	A	2: 76,628,556 (GRCm39)	M14535L	possibly damaging	Het
Txlna	T	C	4: 129,534,055 (GRCm39)	T54A	probably benign	Het
Usp33	T	C	3: 152,086,265 (GRCm39)	V668A	probably damaging	Het
Vmn2r28	C	A	7: 5,484,070 (GRCm39)	C710F	possibly damaging	Het
Vmn2r8	T	A	5: 108,945,961 (GRCm39)	M549L	probably benign	Het
Vwa5b2	T	C	16: 20,420,941 (GRCm39)		probably null	Het
Wnk1	T	C	6: 119,946,208 (GRCm39)	I648M	probably damaging	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
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
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'- TTGGCAAACAATTCTGAGTGAG -3'
(R):5'- TTGGCCAAGGTGTGATGCTC -3'

Sequencing Primer
(F):5'- GGCAAACAATTCTGAGTGAGTTCTG -3'
(R):5'- GCTCATGCAAACAGCTGAGTTC -3'

Posted On

2015-05-19