Mutagenetix > Incidental Mutation

Incidental Mutation 'R5001:Slc19a3'

389872

Institutional Source

Beutler Lab

Gene Symbol

Slc19a3

Ensembl Gene

ENSMUSG00000038496

Gene Name

solute carrier family 19, member 3

Synonyms

ThTr2, A230084E24Rik

MMRRC Submission

042595-MU

Accession Numbers

Essential gene?

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

Stock #

R5001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82990244-83016169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83000341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 225 (N225K)

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: N225K

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041683
Gene: ENSMUSG00000038496
AA Change: N225K

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: N225K

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126646
Gene: ENSMUSG00000038496
AA Change: N225K

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

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
Adcy3	G	A	12: 4,248,434 (GRCm39)	V499M	possibly damaging	Het
Aff4	T	C	11: 53,295,184 (GRCm39)	S795P	probably damaging	Het
Ank	G	A	15: 27,562,819 (GRCm39)	V176I	probably damaging	Het
Ankfn1	A	G	11: 89,332,268 (GRCm39)	I446T	possibly damaging	Het
Arhgap33	C	A	7: 30,232,441 (GRCm39)	S32I	possibly damaging	Het
Ascc3	T	A	10: 50,699,744 (GRCm39)	Y1856N	probably damaging	Het
Atf3	T	C	1: 190,909,472 (GRCm39)	T66A	probably benign	Het
Atf7ip	T	C	6: 136,538,386 (GRCm39)	C548R	probably damaging	Het
Bag6	A	G	17: 35,364,152 (GRCm39)	T841A	probably damaging	Het
Bbof1	A	T	12: 84,473,630 (GRCm39)	Q320L	possibly damaging	Het
Bmp2k	A	T	5: 97,201,001 (GRCm39)	Q307L	probably damaging	Het
Btaf1	T	A	19: 36,964,052 (GRCm39)	N874K	possibly damaging	Het
Calr4	G	A	4: 109,096,179 (GRCm39)		probably null	Het
Camk1d	T	C	2: 5,317,912 (GRCm39)	I248V	possibly damaging	Het
Ccdc177	G	A	12: 80,804,160 (GRCm39)	R705C	unknown	Het
Cdk18	C	T	1: 132,046,587 (GRCm39)		probably null	Het
Cers4	A	G	8: 4,565,565 (GRCm39)	S4G	probably benign	Het
Cfap54	A	G	10: 92,800,396 (GRCm39)	V1604A	probably benign	Het
Chd8	C	T	14: 52,441,372 (GRCm39)	G907S	probably benign	Het
Cilk1	T	C	9: 78,038,801 (GRCm39)	S17P	probably damaging	Het
Cnksr3	G	A	10: 7,076,746 (GRCm39)	Q149*	probably null	Het
Cntd1	T	C	11: 101,176,557 (GRCm39)	V218A	possibly damaging	Het
Cog7	A	T	7: 121,549,109 (GRCm39)	V384E	probably damaging	Het
Col5a2	A	G	1: 45,542,058 (GRCm39)	V6A	unknown	Het
Col7a1	T	C	9: 108,794,146 (GRCm39)		probably null	Het
Cpsf6	T	A	10: 117,203,866 (GRCm39)	I29L	possibly damaging	Het
Cyp3a13	T	C	5: 137,897,178 (GRCm39)	T379A	probably benign	Het
Ddx46	T	C	13: 55,800,732 (GRCm39)	S296P	probably damaging	Het
Dmbt1	A	G	7: 130,651,742 (GRCm39)	D328G	probably damaging	Het
Dnah8	T	G	17: 31,006,159 (GRCm39)	L3692W	probably damaging	Het
Dnmt3l	A	C	10: 77,895,565 (GRCm39)	S368R	probably null	Het
Egfr	A	G	11: 16,854,434 (GRCm39)	K869E	probably damaging	Het
Ehd1	G	A	19: 6,347,724 (GRCm39)	M359I	probably benign	Het
F5	A	T	1: 164,023,139 (GRCm39)	T1566S	probably benign	Het
Flrt2	T	C	12: 95,745,725 (GRCm39)	I21T	probably benign	Het
Galnt1	T	A	18: 24,404,812 (GRCm39)	I383K	probably benign	Het
Ghdc	G	T	11: 100,657,660 (GRCm39)	A523D	probably damaging	Het
Gm24022	A	G	12: 113,393,399 (GRCm39)		probably benign	Het
Golga3	T	C	5: 110,353,643 (GRCm39)	S934P	probably damaging	Het
Gpr135	T	A	12: 72,117,282 (GRCm39)	T162S	probably benign	Het
Gucd1	G	A	10: 75,353,036 (GRCm39)		probably null	Het
Hcrtr2	T	A	9: 76,137,886 (GRCm39)	I410F	probably benign	Het
Igkv6-15	T	C	6: 70,383,633 (GRCm39)	Y56C	probably damaging	Het
Il22ra1	A	T	4: 135,460,415 (GRCm39)	Y57F	probably damaging	Het
Irak4	A	G	15: 94,456,154 (GRCm39)	E247G	possibly damaging	Het
Kank3	T	C	17: 34,040,746 (GRCm39)	V13A	possibly damaging	Het
Klhl1	A	T	14: 96,374,046 (GRCm39)	S667T	probably damaging	Het
Klhl6	T	G	16: 19,765,741 (GRCm39)	*620C	probably null	Het
Lct	A	G	1: 128,235,978 (GRCm39)	L343P	probably damaging	Het
Lgr6	G	T	1: 134,918,370 (GRCm39)	P264T	probably benign	Het
Lilrb4a	T	A	10: 51,367,516 (GRCm39)		probably null	Het
Lin7a	G	T	10: 107,218,530 (GRCm39)	G25*	probably null	Het
Lmnb2	G	A	10: 80,753,946 (GRCm39)	T36M	probably damaging	Het
Manba	T	C	3: 135,273,391 (GRCm39)	F775S	probably benign	Het
Marchf6	A	G	15: 31,465,468 (GRCm39)	V812A	probably damaging	Het
Megf6	T	A	4: 154,352,517 (GRCm39)	L1292H	probably damaging	Het
Myo18b	T	G	5: 112,909,206 (GRCm39)	Q1979P	probably damaging	Het
Myoz1	T	C	14: 20,703,769 (GRCm39)	M59V	probably damaging	Het
Naa35	T	C	13: 59,773,345 (GRCm39)	I100T	possibly damaging	Het
Nox4	A	T	7: 87,010,011 (GRCm39)	Y404F	probably damaging	Het
Ntn1	T	C	11: 68,151,358 (GRCm39)	Y441C	probably damaging	Het
Onecut3	A	G	10: 80,331,154 (GRCm39)	T105A	unknown	Het
Or10ak8	C	A	4: 118,774,440 (GRCm39)	V75F	probably damaging	Het
Or1n1	T	C	2: 36,750,082 (GRCm39)	T93A	probably benign	Het
Or4d5	G	A	9: 40,012,523 (GRCm39)	H88Y	probably benign	Het
Pabpc1l	A	G	2: 163,884,438 (GRCm39)	S392G	probably benign	Het
Pan3	T	A	5: 147,463,492 (GRCm39)		probably null	Het
Pcdha4	G	A	18: 37,088,001 (GRCm39)	S728N	probably benign	Het
Pds5a	T	C	5: 65,854,128 (GRCm39)	D38G	probably damaging	Het
Pgm2l1	A	G	7: 99,921,583 (GRCm39)	I605V	probably benign	Het
Phip	T	C	9: 82,778,072 (GRCm39)		probably null	Het
Pilra	T	C	5: 137,833,777 (GRCm39)	I96M	probably damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Ppp2r2a	A	T	14: 67,259,757 (GRCm39)	L313*	probably null	Het
Ppp4c	A	G	7: 126,386,709 (GRCm39)	F126S	probably damaging	Het
Ptger2	C	A	14: 45,226,824 (GRCm39)	R135S	probably damaging	Het
Rab11fip5	T	A	6: 85,324,788 (GRCm39)	E506D	probably damaging	Het
Rdh12	G	A	12: 79,259,516 (GRCm39)	G133R	probably damaging	Het
Rims2	A	T	15: 39,315,824 (GRCm39)	D610V	probably benign	Het
Saa1	T	A	7: 46,390,132 (GRCm39)	Y122F	probably damaging	Het
Septin10	A	T	10: 59,012,811 (GRCm39)	V269E	probably damaging	Het
Serpina3n	T	A	12: 104,374,998 (GRCm39)	D23E	probably benign	Het
Serpinb11	A	G	1: 107,304,598 (GRCm39)	K188E	possibly damaging	Het
Slc18a3	C	T	14: 32,185,736 (GRCm39)	V216M	possibly damaging	Het
Slc4a1	T	A	11: 102,242,329 (GRCm39)	I797F	probably benign	Het
Slx9	A	G	10: 77,325,850 (GRCm39)	V154A	probably benign	Het
Spic	A	G	10: 88,511,761 (GRCm39)	M165T	possibly damaging	Het
Timm44	A	T	8: 4,325,886 (GRCm39)	M1K	probably null	Het
Tmc6	A	G	11: 117,661,610 (GRCm39)	L572P	probably benign	Het
Tnc	G	A	4: 63,918,299 (GRCm39)	T1204M	probably benign	Het
Tnc	G	A	4: 63,902,726 (GRCm39)	T1517I	probably damaging	Het
Trip11	A	T	12: 101,851,169 (GRCm39)	L680*	probably null	Het
Trps1	T	A	15: 50,524,703 (GRCm39)	M887L	possibly damaging	Het
Tulp3	A	C	6: 128,302,031 (GRCm39)	V330G	probably damaging	Het
Upf1	A	G	8: 70,787,350 (GRCm39)	S835P	probably damaging	Het
Wdr64	A	G	1: 175,620,525 (GRCm39)		probably null	Het
Yju2b	G	A	8: 84,985,304 (GRCm39)	P322S	probably benign	Het
Zbtb40	A	G	4: 136,723,461 (GRCm39)	L643P	probably damaging	Het
Zc3h18	A	T	8: 123,110,259 (GRCm39)	D36V	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
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
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'- TTGTGTTCCCATAGGACTTGAAC -3'
(R):5'- CGAACCTGCCATACTCTAGC -3'

Sequencing Primer
(F):5'- GTTCCCATAGGACTTGAACATAGTTC -3'
(R):5'- TCCATGCAAAGTCCGAT -3'

Posted On

2016-06-06