Mutagenetix > Incidental Mutation

Incidental Mutation 'R1832:Slc19a3'

204831

Institutional Source

Beutler Lab

Gene Symbol

Slc19a3

Ensembl Gene

ENSMUSG00000038496

Gene Name

solute carrier family 19, member 3

Synonyms

ThTr2, A230084E24Rik

MMRRC Submission

039859-MU

Accession Numbers

Essential gene?

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

Stock #

R1832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82990244-83016169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83000468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 183 (V183E)

Ref Sequence

ENSEMBL: ENSMUSP00000126646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045560] [ENSMUST00000164473]

AlphaFold

Q99PL8

Predicted Effect

probably damaging
Transcript: ENSMUST00000045560
AA Change: V183E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041683
Gene: ENSMUSG00000038496
AA Change: V183E

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 damaging
Transcript: ENSMUST00000164473
AA Change: V183E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126646
Gene: ENSMUSG00000038496
AA Change: V183E

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

0.6736

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.7%

Validation Efficiency

100% (82/82)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,509 (GRCm39)	D143V	unknown	Het
Abca8a	A	T	11: 109,962,277 (GRCm39)	N525K	probably damaging	Het
Abhd12	T	A	2: 150,690,338 (GRCm39)	D119V	probably damaging	Het
Adamts20	A	T	15: 94,184,225 (GRCm39)	M1526K	probably benign	Het
Ankdd1a	A	T	9: 65,411,771 (GRCm39)		probably null	Het
Ankrd1	C	T	19: 36,092,378 (GRCm39)	C283Y	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Bhlhe22	G	A	3: 18,109,139 (GRCm39)	C63Y	probably damaging	Het
Bmp8a	A	T	4: 123,218,885 (GRCm39)		probably benign	Het
Ccdc148	A	T	2: 58,891,911 (GRCm39)	S235T	probably damaging	Het
Ccdc88b	G	A	19: 6,830,900 (GRCm39)	Q681*	probably null	Het
Cep104	T	A	4: 154,087,003 (GRCm39)	V842E	probably benign	Het
Chac2	T	C	11: 30,927,568 (GRCm39)	N117S	probably benign	Het
Cimap3	C	T	3: 105,921,912 (GRCm39)	E4K	possibly damaging	Het
Cldn8	T	A	16: 88,359,746 (GRCm39)	I60F	probably benign	Het
Col16a1	G	A	4: 129,970,850 (GRCm39)		probably null	Het
Col4a1	A	G	8: 11,264,644 (GRCm39)		probably benign	Het
Cyp2a4	G	T	7: 26,011,635 (GRCm39)	E285D	probably damaging	Het
Cyp4a31	G	A	4: 115,426,928 (GRCm39)	G176D	probably benign	Het
Dmxl2	A	C	9: 54,368,233 (GRCm39)	Y246D	probably damaging	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Dync2i1	T	A	12: 116,171,363 (GRCm39)	S958C	probably damaging	Het
Eif3h	T	C	15: 51,728,832 (GRCm39)	T8A	possibly damaging	Het
Fbh1	G	T	2: 11,772,211 (GRCm39)	L157I	probably benign	Het
Fbxo40	C	A	16: 36,789,218 (GRCm39)	G631*	probably null	Het
Gabrb1	T	A	5: 72,279,281 (GRCm39)		probably null	Het
Galc	A	G	12: 98,200,499 (GRCm39)		probably null	Het
Garin2	G	A	12: 78,762,280 (GRCm39)		probably benign	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Igkv13-54-1	A	T	6: 69,594,277 (GRCm39)	M31L	probably benign	Het
Lamc2	C	T	1: 153,041,933 (GRCm39)	R67Q	possibly damaging	Het
Lcn10	A	G	2: 25,575,151 (GRCm39)	D173G	probably damaging	Het
Llgl2	G	T	11: 115,741,926 (GRCm39)	R656L	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ly6d	T	C	15: 74,634,615 (GRCm39)	K46E	probably damaging	Het
Map3k5	A	G	10: 19,975,306 (GRCm39)	N88D	probably damaging	Het
Mertk	A	T	2: 128,604,132 (GRCm39)	E422V	probably benign	Het
Mixl1	A	G	1: 180,522,296 (GRCm39)	V195A	probably benign	Het
Nmnat3	T	C	9: 98,281,521 (GRCm39)	V41A	probably damaging	Het
Or1r1	A	T	11: 73,875,319 (GRCm39)	N38K	probably damaging	Het
Or2a7	A	G	6: 43,151,834 (GRCm39)	R305G	probably benign	Het
Or7g34	A	G	9: 19,478,492 (GRCm39)	Y63H	possibly damaging	Het
Pappa2	T	A	1: 158,684,886 (GRCm39)	E751V	probably damaging	Het
Pcsk2	A	G	2: 143,635,189 (GRCm39)	S355G	probably damaging	Het
Pdzd2	A	G	15: 12,390,134 (GRCm39)	V821A	probably damaging	Het
Plxna4	A	C	6: 32,174,761 (GRCm39)	D1109E	probably benign	Het
Ppard	A	G	17: 28,516,084 (GRCm39)	M103V	probably benign	Het
Pramel51	T	C	12: 88,145,218 (GRCm39)	E44G	possibly damaging	Het
Ralgapa1	T	C	12: 55,804,752 (GRCm39)	T515A	probably benign	Het
Rin2	A	G	2: 145,703,091 (GRCm39)	I596V	possibly damaging	Het
Rnls	A	G	19: 33,145,895 (GRCm39)	S75P	possibly damaging	Het
Rsph10b	A	T	5: 143,903,997 (GRCm39)	Y236F	possibly damaging	Het
Runx1t1	C	T	4: 13,835,628 (GRCm39)		probably benign	Het
Sardh	A	G	2: 27,125,581 (GRCm39)	V311A	possibly damaging	Het
Sbno2	G	T	10: 79,896,439 (GRCm39)	Y889*	probably null	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sema4g	T	A	19: 44,987,456 (GRCm39)	V534E	probably benign	Het
Shoc1	T	G	4: 59,066,441 (GRCm39)	I768L	probably benign	Het
Slc10a1	G	A	12: 81,000,446 (GRCm39)	S351F	probably benign	Het
Slc25a12	A	G	2: 71,164,054 (GRCm39)	Y74H	possibly damaging	Het
Slc6a19	T	A	13: 73,841,069 (GRCm39)	I114L	probably benign	Het
Smpd2	A	T	10: 41,364,232 (GRCm39)	C189S	probably benign	Het
Spon1	T	A	7: 113,616,018 (GRCm39)	V295D	probably benign	Het
Tet3	A	G	6: 83,380,627 (GRCm39)	S514P	probably benign	Het
Tnk1	T	C	11: 69,747,754 (GRCm39)	I49M	probably damaging	Het
Trim80	A	G	11: 115,337,619 (GRCm39)	T431A	probably benign	Het
Vgf	A	T	5: 137,060,153 (GRCm39)	Q105L	possibly damaging	Het
Vmn1r37	G	T	6: 66,708,780 (GRCm39)	L135F	probably benign	Het
Vps37d	C	T	5: 135,102,594 (GRCm39)	A128T	possibly damaging	Het
Wwp1	T	C	4: 19,650,197 (GRCm39)	D323G	probably benign	Het
Zfp456	T	A	13: 67,515,482 (GRCm39)	I75L	probably benign	Het
Zfp990	A	G	4: 145,264,780 (GRCm39)	I593V	possibly 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
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'- GGAACCAATGCGCAAAGTGTC -3'
(R):5'- ATATACAGCATGGTCAGCCC -3'

Sequencing Primer
(F):5'- TGCGCAAAGTGTCTCAAAGCTG -3'
(R):5'- TGGTCAGCCCAGAACACTATCAG -3'

Posted On

2014-06-23