Mutagenetix > Incidental Mutation

Incidental Mutation 'R2680:Slc19a2'

250848

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

040433-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R2680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164249046-164265385 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 164249413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 54 (T54K)

Ref Sequence

ENSEMBL: ENSMUSP00000123870 (fasta)

Gene Model

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

AlphaFold

Q9EQN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044021
AA Change: T54K

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

SMART Domains

Protein: ENSMUSP00000037561
Gene: ENSMUSG00000040918
AA Change: T54K

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: T54K

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

SMART Domains

Protein: ENSMUSP00000123870
Gene: ENSMUSG00000040918
AA Change: T54K

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

probably benign
Transcript: ENSMUST00000169394
AA Change: T54K

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

SMART Domains

Protein: ENSMUSP00000131327
Gene: ENSMUSG00000040918
AA Change: T54K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	T	C	7: 139,978,561	D41G	probably damaging	Het
BC024139	A	G	15: 76,121,739	W421R	probably damaging	Het
Car11	T	C	7: 45,702,485	S113P	probably benign	Het
Ccdc146	C	T	5: 21,305,269	A582T	possibly damaging	Het
Cct8l1	A	G	5: 25,517,135	T283A	probably benign	Het
Ckap5	A	G	2: 91,588,698	I1118V	probably benign	Het
Copa	C	T	1: 172,121,404	Q1199*	probably null	Het
Cpd	A	T	11: 76,790,999	N1140K	probably benign	Het
Cspp1	A	G	1: 10,104,305	D661G	probably damaging	Het
Dab2	A	G	15: 6,436,993	Q729R	possibly damaging	Het
Dnah9	T	C	11: 66,033,925	I2168V	probably benign	Het
Dync1h1	G	A	12: 110,643,247	R2821H	probably damaging	Het
Ercc5	T	C	1: 44,156,973	V42A	probably benign	Het
Evc	A	G	5: 37,310,237	V566A	probably benign	Het
Fcrls	T	C	3: 87,257,349	Y290C	probably damaging	Het
Frmd4a	A	G	2: 4,534,553	R171G	probably damaging	Het
Galnt17	G	A	5: 131,111,823	P152L	probably damaging	Het
Gfi1	A	G	5: 107,721,431	L245P	probably damaging	Het
Heatr4	T	C	12: 83,980,463	K7E	possibly damaging	Het
Ifit3b	A	G	19: 34,612,305	N294D	probably benign	Het
Ift74	A	G	4: 94,653,028	Y230C	probably damaging	Het
Igsf10	C	T	3: 59,325,454	V1953I	probably benign	Het
Ikzf5	T	C	7: 131,396,761	D14G	probably damaging	Het
Il12rb2	T	A	6: 67,354,805	T259S	possibly damaging	Het
Itgae	T	A	11: 73,114,926	D305E	probably damaging	Het
Kif23	A	C	9: 61,937,476	D90E	probably benign	Het
Kprp	A	G	3: 92,824,463	F427L	unknown	Het
Lmnb1	T	A	18: 56,731,105	Y261N	probably damaging	Het
Megf8	T	C	7: 25,317,556	V17A	probably benign	Het
Mfap4	T	C	11: 61,487,231	Y190H	probably benign	Het
Mlh1	T	C	9: 111,236,017		probably null	Het
Mocos	C	A	18: 24,676,629	Q430K	probably damaging	Het
Ndst2	A	G	14: 20,724,754	F794L	probably damaging	Het
Nedd4l	A	T	18: 65,163,130	I197F	possibly damaging	Het
Nefm	A	G	14: 68,123,786	L343P	probably damaging	Het
Nfatc4	A	G	14: 55,832,834		probably benign	Het
Nlrp4a	T	A	7: 26,449,230		probably null	Het
Nlrp4f	A	T	13: 65,194,343	L496*	probably null	Het
Nom1	T	C	5: 29,443,417	F654S	probably damaging	Het
Olfr730	A	T	14: 50,186,847	Y123*	probably null	Het
Pcdhac2	A	G	18: 37,145,586	K540E	possibly damaging	Het
Pde4dip	T	C	3: 97,701,617	N1974S	possibly damaging	Het
Pik3c3	T	C	18: 30,344,078		probably null	Het
Pik3ca	C	T	3: 32,436,548	R115*	probably null	Het
Pik3ca	T	C	3: 32,443,885	I492T	probably benign	Het
Ppp1ca	G	A	19: 4,194,595	E218K	possibly damaging	Het
Prex1	G	T	2: 166,601,772	D492E	possibly damaging	Het
Scaf8	T	C	17: 3,197,591	V1063A	possibly damaging	Het
Scn3a	G	T	2: 65,536,536	N47K	probably benign	Het
Sec61a2	G	T	2: 5,873,745	N348K	probably benign	Het
Sh3rf2	A	G	18: 42,101,650	E166G	probably damaging	Het
Slc8a3	T	A	12: 81,202,339	I765F	probably damaging	Het
Snap91	A	T	9: 86,879,550	M1K	probably null	Het
Strc	T	C	2: 121,365,111	H1619R	probably damaging	Het
Tbl1xr1	C	T	3: 22,191,451	T207M	possibly damaging	Het
Tchp	T	C	5: 114,709,519		probably null	Het
Tln1	A	T	4: 43,539,668	F1581Y	probably damaging	Het
Tnxb	T	C	17: 34,703,620	V2469A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn1r225	T	A	17: 20,502,793	F165L	probably benign	Het
Vmn2r13	T	C	5: 109,174,312	D173G	possibly damaging	Het
Vmn2r6	A	C	3: 64,538,286	S673A	possibly damaging	Het
Vta1	G	A	10: 14,705,427		probably benign	Het
Wwc1	T	C	11: 35,875,929	T500A	probably benign	Het
Zfp784	T	A	7: 5,036,117	Q147H	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
R1833:Slc19a2	UTSW	1	164262184	missense	probably damaging	1.00
R2148:Slc19a2	UTSW	1	164262088	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
R8831:Slc19a2	UTSW	1	164256874	missense	probably damaging	1.00
R9424:Slc19a2	UTSW	1	164249326	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTAGGGAAAGGGCGTTCG -3'
(R):5'- AAGGCCACTTTTCCAAGCG -3'

Sequencing Primer
(F):5'- GGGACTCCAAGCACCTTGAC -3'
(R):5'- TTTTCCAAGCGAGCAGAAATCCG -3'

Posted On

2014-12-04