Mutagenetix > Incidental Mutation

Incidental Mutation 'R2148:Slc19a2'

233981

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

040151-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R2148 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164076615-164092954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164089657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 158 (W158R)

Ref Sequence

ENSEMBL: ENSMUSP00000131327 (fasta)

Gene Model

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

AlphaFold

Q9EQN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044021
AA Change: W359R

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

SMART Domains

Protein: ENSMUSP00000037561
Gene: ENSMUSG00000040918
AA Change: W359R

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: W321R

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

SMART Domains

Protein: ENSMUSP00000123870
Gene: ENSMUSG00000040918
AA Change: W321R

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: W158R

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

SMART Domains

Protein: ENSMUSP00000131327
Gene: ENSMUSG00000040918
AA Change: W158R

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: 98.7%
10x: 97.4%
20x: 95.4%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Abca13	A	G	11: 9,565,764 (GRCm39)	Y4796C	probably damaging	Het
Actn2	A	T	13: 12,315,835 (GRCm39)	M228K	probably damaging	Het
Agbl1	T	G	7: 76,064,465 (GRCm39)		probably null	Het
Ahi1	T	G	10: 20,846,875 (GRCm39)	V435G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap6	A	G	X: 167,579,496 (GRCm39)	T94A	probably benign	Het
Atg4c	C	A	4: 99,109,463 (GRCm39)	N143K	possibly damaging	Het
Bcor	G	A	X: 11,923,862 (GRCm39)	A578V	possibly damaging	Het
Bop1	A	G	15: 76,339,487 (GRCm39)	V286A	probably damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cacna1a	A	T	8: 85,356,304 (GRCm39)	Q1887L	possibly damaging	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Cnot2	A	G	10: 116,342,185 (GRCm39)	I173T	probably benign	Het
Cntnap5b	T	A	1: 100,311,199 (GRCm39)	I564N	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp2j11	G	A	4: 96,204,595 (GRCm39)	T317I	probably damaging	Het
Dcaf8l	T	C	X: 88,449,883 (GRCm39)	D82G	possibly damaging	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Dgkd	T	G	1: 87,809,643 (GRCm39)	N110K	probably damaging	Het
Dhx8	A	T	11: 101,629,203 (GRCm39)	R198*	probably null	Het
Dnah8	A	T	17: 30,956,232 (GRCm39)	I2071F	probably damaging	Het
Dsc3	C	T	18: 20,098,695 (GRCm39)	R828Q	probably damaging	Het
Fbxl4	T	C	4: 22,427,333 (GRCm39)	F525L	possibly damaging	Het
Glb1	T	C	9: 114,279,716 (GRCm39)	Y375H	probably damaging	Het
Gpatch1	A	G	7: 34,998,701 (GRCm39)	V343A	probably benign	Het
Gpr139	A	G	7: 118,744,192 (GRCm39)	V131A	probably benign	Het
Hamp	T	C	7: 30,642,137 (GRCm39)	T34A	possibly damaging	Het
Homer2	T	G	7: 81,274,043 (GRCm39)	D51A	possibly damaging	Het
Hspa1l	C	T	17: 35,196,366 (GRCm39)	A135V	probably damaging	Het
Igsf10	A	G	3: 59,243,998 (GRCm39)	M112T	possibly damaging	Het
Ikbkb	A	T	8: 23,172,761 (GRCm39)	L153Q	probably damaging	Het
Kif19a	A	T	11: 114,671,594 (GRCm39)	I158F	probably damaging	Het
L1cam	A	T	X: 72,904,747 (GRCm39)	F536Y	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lhx1	A	T	11: 84,410,647 (GRCm39)	S226T	probably benign	Het
Llcfc1	G	A	6: 41,662,155 (GRCm39)	G53D	possibly damaging	Het
Loxl4	A	G	19: 42,592,631 (GRCm39)		probably null	Het
Magee1	A	T	X: 104,166,564 (GRCm39)	D783V	probably damaging	Het
Mak	T	C	13: 41,195,513 (GRCm39)	K400R	probably benign	Het
Mgat4c	T	C	10: 102,224,790 (GRCm39)	F335L	probably benign	Het
Mgat4f	T	A	1: 134,318,251 (GRCm39)	M341K	probably damaging	Het
Mospd2	A	G	X: 163,739,473 (GRCm39)		probably null	Het
Mtor	T	C	4: 148,540,469 (GRCm39)	F245L	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo5a	T	A	9: 75,087,429 (GRCm39)	L1095H	probably damaging	Het
Nlrp1a	T	A	11: 71,013,733 (GRCm39)	K506*	probably null	Het
Or5d18	C	A	2: 87,864,943 (GRCm39)	C180F	probably damaging	Het
Parvb	A	G	15: 84,116,369 (GRCm39)	K33E	possibly damaging	Het
Phkb	A	G	8: 86,744,115 (GRCm39)	D588G	probably damaging	Het
Pkd1l2	A	T	8: 117,783,064 (GRCm39)	I752N	probably damaging	Het
Pkhd1	C	A	1: 20,484,444 (GRCm39)		probably null	Het
Plod3	C	T	5: 137,016,627 (GRCm39)	R30*	probably null	Het
Ppfia4	T	C	1: 134,240,372 (GRCm39)	I591V	probably benign	Het
Prickle2	A	G	6: 92,402,652 (GRCm39)	L112P	probably damaging	Het
Ptgs2	G	T	1: 149,981,465 (GRCm39)	A583S	probably benign	Het
Pycr2	T	C	1: 180,734,413 (GRCm39)	V231A	probably damaging	Het
Ralgapa2	T	C	2: 146,273,807 (GRCm39)	D540G	probably benign	Het
Rasal1	T	A	5: 120,800,096 (GRCm39)	I150N	probably damaging	Het
Rimkla	T	A	4: 119,331,779 (GRCm39)	M140L	possibly damaging	Het
Sacs	T	C	14: 61,410,827 (GRCm39)	L34P	probably damaging	Het
Sema3d	A	G	5: 12,534,926 (GRCm39)	Y106C	probably damaging	Het
Serpinb8	T	A	1: 107,533,657 (GRCm39)	D237E	probably benign	Het
Sorbs1	A	T	19: 40,365,268 (GRCm39)	F172I	possibly damaging	Het
Spaca7	A	T	8: 12,636,447 (GRCm39)	D91V	probably damaging	Het
Tead3	A	G	17: 28,552,638 (GRCm39)	F187L	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tmem132c	T	A	5: 127,540,026 (GRCm39)	W351R	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Trap1	T	C	16: 3,878,624 (GRCm39)	D236G	probably damaging	Het
Trim45	T	A	3: 100,839,360 (GRCm39)	L754*	probably null	Het
Tubgcp5	A	G	7: 55,449,259 (GRCm39)	E152G	probably damaging	Het
Uaca	A	T	9: 60,776,961 (GRCm39)	L447F	probably damaging	Het
Vps51	A	G	19: 6,118,164 (GRCm39)	V777A	probably benign	Het
Wdr11	A	G	7: 129,230,807 (GRCm39)		probably null	Het
Zfp462	T	A	4: 55,013,670 (GRCm39)	S1879T	probably benign	Het
Zfr2	T	G	10: 81,077,950 (GRCm39)	V259G	probably benign	Het

Other mutations in Slc19a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01464:Slc19a2	APN	1	164,088,430 (GRCm39)	missense	probably damaging	1.00
IGL03231:Slc19a2	APN	1	164,088,449 (GRCm39)	missense	probably damaging	1.00
R0324:Slc19a2	UTSW	1	164,084,344 (GRCm39)	missense	probably damaging	1.00
R0709:Slc19a2	UTSW	1	164,084,367 (GRCm39)	missense	probably damaging	1.00
R1117:Slc19a2	UTSW	1	164,091,025 (GRCm39)	missense	possibly damaging	0.86
R1165:Slc19a2	UTSW	1	164,091,014 (GRCm39)	missense	probably damaging	1.00
R1463:Slc19a2	UTSW	1	164,084,766 (GRCm39)	missense	probably damaging	0.98
R1833:Slc19a2	UTSW	1	164,089,753 (GRCm39)	missense	probably damaging	1.00
R2680:Slc19a2	UTSW	1	164,076,982 (GRCm39)	missense	probably damaging	1.00
R4010:Slc19a2	UTSW	1	164,088,451 (GRCm39)	missense	probably damaging	1.00
R5850:Slc19a2	UTSW	1	164,091,025 (GRCm39)	missense	probably benign	0.00
R6279:Slc19a2	UTSW	1	164,084,344 (GRCm39)	missense	probably damaging	1.00
R6300:Slc19a2	UTSW	1	164,084,344 (GRCm39)	missense	probably damaging	1.00
R6907:Slc19a2	UTSW	1	164,090,323 (GRCm39)	missense	possibly damaging	0.79
R6917:Slc19a2	UTSW	1	164,088,578 (GRCm39)	missense	probably damaging	1.00
R6982:Slc19a2	UTSW	1	164,084,428 (GRCm39)	missense	possibly damaging	0.88
R6993:Slc19a2	UTSW	1	164,088,391 (GRCm39)	missense	probably benign	0.00
R7424:Slc19a2	UTSW	1	164,088,445 (GRCm39)	missense	probably benign	0.31
R7575:Slc19a2	UTSW	1	164,084,691 (GRCm39)	missense	probably damaging	1.00
R8193:Slc19a2	UTSW	1	164,084,794 (GRCm39)	missense	probably benign	0.13
R8831:Slc19a2	UTSW	1	164,084,443 (GRCm39)	missense	probably damaging	1.00
R9424:Slc19a2	UTSW	1	164,076,895 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTAAGTTTCAAGGAACTCCG -3'
(R):5'- AATACGAAGCTTTCTCCCATTTGC -3'

Sequencing Primer
(F):5'- AACTCCGTGTTCTCGAGC -3'
(R):5'- GGGTTGTAAAGAAATCCAAGTTTATC -3'

Posted On

2014-10-01