Mutagenetix > Incidental Mutation

Incidental Mutation 'R1463:Slc19a2'

159193

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

039517-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1463 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164249046-164265385 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 164257197 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 219 (H219Y)

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: H219Y

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037561
Gene: ENSMUSG00000040918
AA Change: H219Y

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: H219Y

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123870
Gene: ENSMUSG00000040918
AA Change: H219Y

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

SMART Domains

Protein: ENSMUSP00000131327
Gene: ENSMUSG00000040918

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

0.3297

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

97% (97/100)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,073		probably benign	Het
4931408C20Rik	G	T	1: 26,682,141	Y1319*	probably null	Het
Abca5	A	T	11: 110,314,558	I299N	probably damaging	Het
Abcc8	T	C	7: 46,154,512	T413A	probably benign	Het
Actc1	G	A	2: 114,049,529	S201F	probably damaging	Het
Adam30	G	A	3: 98,162,525	C558Y	probably damaging	Het
Adcy4	T	A	14: 55,778,939	I352F	probably damaging	Het
Adgrl4	A	T	3: 151,510,596	D472V	probably damaging	Het
Afap1l2	T	A	19: 56,930,151	M117L	probably benign	Het
AI597479	T	C	1: 43,113,229	V229A	probably damaging	Het
Ascc1	T	C	10: 60,062,516	V267A	probably benign	Het
Asxl3	A	G	18: 22,516,753	S600G	possibly damaging	Het
Atg14	T	C	14: 47,548,994	I268V	probably benign	Het
Bcas1	C	T	2: 170,418,664	V32I	probably benign	Het
Cacna1c	G	T	6: 118,593,994	D2106E	probably benign	Het
Cacna1i	A	G	15: 80,379,054	H1440R	possibly damaging	Het
Catsper2	G	A	2: 121,406,446	T240M	probably damaging	Het
Cd163	A	G	6: 124,311,447	E279G	probably damaging	Het
Cdx2	C	T	5: 147,306,660	S108N	probably benign	Het
Cenpf	A	T	1: 189,654,739	N1781K	probably damaging	Het
Cgref1	T	A	5: 30,935,994		probably benign	Het
Clcn4	C	T	7: 7,296,764	W22*	probably null	Het
Cntn2	A	G	1: 132,521,137		probably null	Het
Cntn5	C	T	9: 9,673,796		probably null	Het
Cpeb3	A	G	19: 37,139,100	M377T	probably benign	Het
Cryge	T	A	1: 65,048,838	R135*	probably null	Het
Ctdsp2	C	A	10: 126,993,921		probably benign	Het
Ctsll3	G	A	13: 60,801,275		probably benign	Het
Cuzd1	C	A	7: 131,316,642	G189C	probably damaging	Het
Dmbt1	T	A	7: 131,109,637		probably null	Het
Dnajc13	A	T	9: 104,178,940	S1587R	probably damaging	Het
Dock4	GCTCAGTGTATC	GC	12: 40,816,325		probably null	Het
Dock6	T	C	9: 21,831,906	H701R	probably damaging	Het
Edem3	A	G	1: 151,807,510	T646A	possibly damaging	Het
Esrra	A	C	19: 6,912,455	D160E	probably benign	Het
Fbn2	T	C	18: 58,010,380	T2868A	probably benign	Het
Galnt7	T	A	8: 57,652,858	M41L	probably benign	Het
Gbf1	T	C	19: 46,271,545		probably benign	Het
Glyat	A	G	19: 12,648,103	N63S	probably damaging	Het
Gm9376	A	T	14: 118,267,482	M109L	probably benign	Het
H2-M10.3	A	G	17: 36,366,720	V222A	probably damaging	Het
Ifna12	T	G	4: 88,602,956	D118A	possibly damaging	Het
Inpp5j	T	C	11: 3,501,147	M501V	probably benign	Het
Itpr3	C	T	17: 27,117,154		probably benign	Het
Ivns1abp	A	G	1: 151,361,540	N527S	probably benign	Het
Kif13a	T	C	13: 46,929,612	T4A	possibly damaging	Het
Kif3b	T	C	2: 153,330,153	*748Q	probably null	Het
Klf8	C	T	X: 153,384,681	Q241*	probably null	Het
Kras	A	T	6: 145,225,061		probably benign	Het
Lamc3	C	A	2: 31,887,411	T23K	probably benign	Het
Lrrc74b	T	A	16: 17,559,873	H47L	probably benign	Het
Ly75	A	G	2: 60,368,757		probably null	Het
Map3k21	G	A	8: 125,942,137	G821S	probably benign	Het
Mettl14	A	G	3: 123,374,073		probably benign	Het
Mettl5	T	C	2: 69,885,246		probably benign	Het
Mier3	A	G	13: 111,711,755	D301G	probably damaging	Het
Mipep	T	C	14: 60,788,146		probably benign	Het
Mmp21	T	C	7: 133,675,859		probably null	Het
Msh4	A	G	3: 153,857,570	L723P	probably damaging	Het
Muc5b	T	C	7: 141,859,080	V1921A	unknown	Het
Myo1e	G	A	9: 70,338,756	E410K	possibly damaging	Het
Nav2	T	G	7: 49,535,962	I951S	probably damaging	Het
Npc1	G	A	18: 12,191,830	T1202I	probably damaging	Het
Olfr1441	C	T	19: 12,422,888	T193I	probably benign	Het
Olfr218	A	G	1: 173,203,367	K4E	probably benign	Het
Olfr324	A	G	11: 58,598,121	R242G	probably damaging	Het
Patl2	C	T	2: 122,123,735	V452M	probably benign	Het
Pcdh18	A	G	3: 49,755,405	V487A	probably damaging	Het
Pdzph1	C	T	17: 58,932,445	A963T	probably damaging	Het
Pkd1l1	C	T	11: 8,916,302	V518M	probably damaging	Het
Plcd3	A	G	11: 103,078,373	F256S	probably damaging	Het
Proc	T	C	18: 32,133,438	D112G	possibly damaging	Het
Ptges2	T	A	2: 32,400,862		probably null	Het
Pth2r	A	T	1: 65,363,277	R312W	probably damaging	Het
Rbbp6	C	T	7: 122,992,453	H546Y	possibly damaging	Het
Retreg2	A	G	1: 75,146,520	E364G	probably damaging	Het
Rxrb	G	A	17: 34,034,160	C185Y	probably damaging	Het
Sept2	T	A	1: 93,499,315	N133K	possibly damaging	Het
Serpina3b	T	A	12: 104,138,710	S382T	probably benign	Het
Serpinb9e	T	C	13: 33,255,116	F175S	probably benign	Het
Slfn9	A	T	11: 82,981,698	D737E	possibly damaging	Het
Snx31	T	C	15: 36,539,298	E144G	probably null	Het
Sp2	A	G	11: 96,963,456		probably benign	Het
Spag9	C	T	11: 94,116,837	L1117F	probably damaging	Het
Syndig1l	A	T	12: 84,680,363		probably benign	Het
Sypl	A	T	12: 32,974,333		probably benign	Het
Tmem169	T	C	1: 72,300,696	M95T	probably benign	Het
Tmem206	T	C	1: 191,328,289		probably benign	Het
Tnfrsf17	A	G	16: 11,315,202	Y48C	possibly damaging	Het
Ttn	A	T	2: 76,827,515		probably benign	Het
Uap1	G	C	1: 170,150,383	H366Q	probably benign	Het
Ulbp1	A	G	10: 7,446,557		probably benign	Het
Urb2	T	C	8: 124,030,908	V1118A	probably benign	Het
Usp54	T	C	14: 20,550,190	N1493S	probably benign	Het
Vmn1r129	C	A	7: 21,360,730	V188F	probably benign	Het
Vmn1r226	A	T	17: 20,687,732	L75F	probably benign	Het
Wdr78	T	A	4: 103,087,418	L245F	possibly damaging	Het
Wisp1	T	A	15: 66,919,271	N307K	possibly damaging	Het
Yes1	T	A	5: 32,651,702	S137R	probably benign	Het
Zfp804b	A	G	5: 7,179,372		probably benign	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
R1833:Slc19a2	UTSW	1	164262184	missense	probably damaging	1.00
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
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'- CACAAGCTACTGTAGAAGTGCCACC -3'
(R):5'- TTGCATCTTAATGACTGAGTGGCCC -3'

Sequencing Primer
(F):5'- CACCTTGGTGGGCTTTACAG -3'
(R):5'- GTTTCACTACCATTAGGCAACG -3'

Posted On

2014-03-14