Mutagenetix > Incidental Mutations

Incidental Mutation 'R1833:Slc19a2'

204915

Institutional Source

Beutler Lab

Gene Symbol

Slc19a2

Ensembl Gene

ENSMUSG00000040918

Gene Name

solute carrier family 19 (thiamine transporter), member 2

Synonyms

TRMA, DDA1, THTR1

MMRRC Submission

039860-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R1833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164249046-164265385 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 164262184 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 190 (Y190D)

Ref Sequence

ENSEMBL: ENSMUSP00000131327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044021] [ENSMUST00000159230] [ENSMUST00000169394]

Predicted Effect

probably damaging
Transcript: ENSMUST00000044021
AA Change: Y391D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037561
Gene: ENSMUSG00000040918
AA Change: Y391D

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
Pfam:Folate_carrier	28	459	2.7e-180	PFAM
Pfam:MFS_1	34	441	2.6e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159230
AA Change: Y353D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123870
Gene: ENSMUSG00000040918
AA Change: Y353D

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
Pfam:Folate_carrier	28	421	1.6e-176	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160773

Predicted Effect

probably damaging
Transcript: ENSMUST00000169394
AA Change: Y190D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131327
Gene: ENSMUSG00000040918
AA Change: Y190D

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
Pfam:Folate_carrier	28	70	3.7e-17	PFAM
Pfam:Folate_carrier	65	258	6.7e-85	PFAM

Meta Mutation Damage Score

0.9639

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for targeted null alleles exhibit a grossly normal phenotype except for reduced testis size and male infertility. On a low-thiamine diet, mutants show premature death and sensorineural deafness, while homozygotes for one targeted allele also display diabetes mellitus and megaloblastosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,556,860	D143V	unknown	Het
4930438A08Rik	C	T	11: 58,288,388	Q183*	probably null	Het
9230009I02Rik	A	G	11: 51,091,466		noncoding transcript	Het
Abhd12	T	A	2: 150,848,418	D119V	probably damaging	Het
Adam1b	A	G	5: 121,502,937	I15T	possibly damaging	Het
Agtpbp1	A	T	13: 59,465,983		probably null	Het
Arfgef1	G	C	1: 10,204,890	I312M	probably benign	Het
Arid4a	C	T	12: 71,075,466	L874F	possibly damaging	Het
Bcas3	G	A	11: 85,583,949	V317I	probably benign	Het
Ccr1	T	A	9: 123,964,089	I135F	probably damaging	Het
Ces2h	A	G	8: 105,020,373	E547G	possibly damaging	Het
Ces3b	T	A	8: 105,085,639	D173E	probably damaging	Het
Chd3	A	G	11: 69,354,123	L1197S	probably damaging	Het
Cngb1	A	G	8: 95,242,355	L1175P	probably damaging	Het
Cyp4f17	T	C	17: 32,524,210	F286L	probably benign	Het
Dclre1a	C	T	19: 56,541,500		probably null	Het
Dennd6a	T	A	14: 26,606,954	L44H	probably damaging	Het
Dhx16	A	G	17: 35,885,619	T560A	probably benign	Het
Dusp12	T	C	1: 170,874,453	M326V	probably benign	Het
Eif3k	T	C	7: 28,971,427	I180V	probably benign	Het
Erc1	A	G	6: 119,743,429	I437T	possibly damaging	Het
Fam71d	G	A	12: 78,715,506		probably benign	Het
Farp2	T	A	1: 93,576,364		probably benign	Het
Foxa3	A	G	7: 19,014,574	L209P	probably damaging	Het
Gen1	A	T	12: 11,248,351		probably benign	Het
Gm10305	A	G	4: 99,273,126	T91A	unknown	Het
Gm10436	T	C	12: 88,178,448	E44G	possibly damaging	Het
Gm14412	T	C	2: 177,315,790	D104G	probably benign	Het
Gm340	T	C	19: 41,584,948	I714T	probably benign	Het
Gm6900	T	C	7: 10,656,588		noncoding transcript	Het
Gpx1	A	T	9: 108,339,356	Y15F	possibly damaging	Het
H2-M10.3	T	C	17: 36,367,495	Y146C	probably damaging	Het
H2-Q7	C	A	17: 35,439,699	S104R	probably benign	Het
Hephl1	T	C	9: 15,076,928	Y628C	probably damaging	Het
Hspa5	T	A	2: 34,776,053	Y636*	probably null	Het
Htt	A	G	5: 34,905,748		probably benign	Het
Idh1	T	C	1: 65,161,114	I364V	probably benign	Het
Itgae	G	T	11: 73,117,162	A423S	possibly damaging	Het
Kng2	T	C	16: 23,012,052	N169S	possibly damaging	Het
Larp4b	C	T	13: 9,151,199	T369I	possibly damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Magi2	G	T	5: 19,227,457	G57C	probably damaging	Het
Mdn1	T	A	4: 32,720,761	H2291Q	probably damaging	Het
Mgam	T	C	6: 40,654,718		probably null	Het
Micall2	A	G	5: 139,716,753	V245A	probably benign	Het
Mipep	T	G	14: 60,872,063	Y630D	probably damaging	Het
Msx2	A	T	13: 53,468,185	M263K	probably damaging	Het
Nectin2	G	T	7: 19,717,708	P467H	probably damaging	Het
Nek10	A	T	14: 14,842,789	M165L	probably benign	Het
Nlrp4b	A	T	7: 10,725,936	M455L	probably benign	Het
Oaz3	TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG	TGGAGGCAGGAGCACGGGAGGCAG	3: 94,436,042		probably benign	Het
Olfr1258	T	A	2: 89,930,301	L164*	probably null	Het
Olfr286	T	A	15: 98,226,965	I227F	probably damaging	Het
Pcx	T	A	19: 4,619,104	V710E	probably damaging	Het
Pkn2	C	T	3: 142,821,647	R347Q	probably damaging	Het
Qsox1	C	T	1: 155,791,045	G233S	probably benign	Het
Rbl1	T	A	2: 157,195,555	N224I	probably damaging	Het
Rspry1	A	G	8: 94,635,488	T132A	probably damaging	Het
Sclt1	A	G	3: 41,727,111	V91A	probably damaging	Het
Sema4f	A	T	6: 82,918,559	L331H	probably benign	Het
Sf3b3	T	A	8: 110,817,566	Q814L	probably benign	Het
Smarcc1	T	A	9: 110,153,811	H204Q	possibly damaging	Het
Sox6	T	C	7: 115,777,093	K135E	probably damaging	Het
Tecpr1	T	C	5: 144,208,608	Q607R	probably damaging	Het
Tgfb1i1	A	G	7: 128,249,498		probably benign	Het
Tirap	T	G	9: 35,188,703	R228S	probably benign	Het
Tmem211	A	G	5: 113,234,569		probably benign	Het
Trp53bp2	T	A	1: 182,429,016	H50Q	probably damaging	Het
Try4	A	G	6: 41,303,431	H63R	probably damaging	Het
Vmn2r25	G	A	6: 123,839,684	P313S	probably benign	Het
Vps26a	A	C	10: 62,459,046	L250V	probably benign	Het
Vwf	A	G	6: 125,642,037	H1226R	probably benign	Het
Wdtc1	TCC	TC	4: 133,308,742		probably benign	Het
Zc3hav1l	A	T	6: 38,297,946		probably benign	Het
Zfp119b	T	G	17: 55,939,271	H305P	probably damaging	Het
Zfp326	C	T	5: 105,891,169	Q134*	probably null	Het
Zfp975	C	T	7: 42,661,839	R450Q	probably benign	Het
Zfyve26	A	T	12: 79,286,258	M313K	probably benign	Het
Zscan5b	T	C	7: 6,238,966	S395P	possibly damaging	Het

Other mutations in Slc19a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01464:Slc19a2	APN	1	164260861	missense	probably damaging	1.00
IGL03231:Slc19a2	APN	1	164260880	missense	probably damaging	1.00
R0324:Slc19a2	UTSW	1	164256775	missense	probably damaging	1.00
R0709:Slc19a2	UTSW	1	164256798	missense	probably damaging	1.00
R1117:Slc19a2	UTSW	1	164263456	missense	possibly damaging	0.86
R1165:Slc19a2	UTSW	1	164263445	missense	probably damaging	1.00
R1463:Slc19a2	UTSW	1	164257197	missense	probably damaging	0.98
R2148:Slc19a2	UTSW	1	164262088	missense	probably damaging	1.00
R2680:Slc19a2	UTSW	1	164249413	missense	probably damaging	1.00
R4010:Slc19a2	UTSW	1	164260882	missense	probably damaging	1.00
R5850:Slc19a2	UTSW	1	164263456	missense	probably benign	0.00
R6279:Slc19a2	UTSW	1	164256775	missense	probably damaging	1.00
R6300:Slc19a2	UTSW	1	164256775	missense	probably damaging	1.00
R6907:Slc19a2	UTSW	1	164262754	missense	possibly damaging	0.79
R6917:Slc19a2	UTSW	1	164261009	missense	probably damaging	1.00
R6982:Slc19a2	UTSW	1	164256859	missense	possibly damaging	0.88
R6993:Slc19a2	UTSW	1	164260822	missense	probably benign	0.00
R7424:Slc19a2	UTSW	1	164260876	missense	probably benign	0.31
R7575:Slc19a2	UTSW	1	164257122	missense	probably damaging	1.00
R8193:Slc19a2	UTSW	1	164257225	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- CACGTTGAAGGTCTGAATGC -3'
(R):5'- ACAATACGAAGCTTTCTCCCATTTG -3'

Sequencing Primer
(F):5'- CTGAATGCATAATAATCTGAGCTGC -3'
(R):5'- CTCCCATTTGCCTCCTTTAAATAG -3'

Posted On

2014-06-23