Mutagenetix > Incidental Mutation

Incidental Mutation 'R6982:Slc19a2'

542709

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

045383-MU

Accession Numbers

Essential gene?

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

Stock #

R6982 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164076615-164092954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164084428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 106 (L106P)

Ref Sequence

ENSEMBL: ENSMUSP00000037561 (fasta)

Gene Model

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

AlphaFold

Q9EQN9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044021
AA Change: L106P

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037561
Gene: ENSMUSG00000040918
AA Change: L106P

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

possibly damaging
Transcript: ENSMUST00000159230
AA Change: L106P

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123870
Gene: ENSMUSG00000040918
AA Change: L106P

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

0.5981

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	A	13: 70,916,639 (GRCm39)		probably null	Het
Adamtsl3	C	A	7: 82,164,271 (GRCm39)	P362H	probably damaging	Het
Ambra1	G	A	2: 91,747,818 (GRCm39)	V1065I	probably damaging	Het
Ankrd66	T	C	17: 43,849,926 (GRCm39)	T79A	probably damaging	Het
Ano2	G	A	6: 125,969,856 (GRCm39)	R724H	probably benign	Het
Bmp8a	A	G	4: 123,218,934 (GRCm39)	L158P	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cilp	T	C	9: 65,187,087 (GRCm39)	Y1061H	probably damaging	Het
Clybl	G	A	14: 122,639,359 (GRCm39)	G308R	probably damaging	Het
Cntnap5c	C	T	17: 58,399,247 (GRCm39)	P367S	possibly damaging	Het
Col20a1	T	C	2: 180,638,499 (GRCm39)	V371A	probably benign	Het
Col24a1	G	T	3: 145,020,807 (GRCm39)	G393*	probably null	Het
Dnah12	A	G	14: 26,521,033 (GRCm39)		probably null	Het
Dnah8	T	A	17: 30,986,899 (GRCm39)	S3183T	probably benign	Het
Dph2	A	T	4: 117,746,993 (GRCm39)	I435N	probably benign	Het
Fam3c	G	T	6: 22,322,300 (GRCm39)	A107D	probably damaging	Het
Fezf2	G	T	14: 12,343,645 (GRCm38)	Q367K	probably damaging	Het
Gbp2	A	G	3: 142,335,846 (GRCm39)	D182G	probably damaging	Het
Gpr162	T	A	6: 124,837,919 (GRCm39)	I244F	probably damaging	Het
Jakmip1	A	T	5: 37,282,285 (GRCm39)	N159I	probably damaging	Het
Jkampl	A	T	6: 73,446,527 (GRCm39)	Y7*	probably null	Het
Kdm4a	A	T	4: 118,010,636 (GRCm39)		probably null	Het
Klf5	A	G	14: 99,550,671 (GRCm39)	H416R	probably damaging	Het
Lrrc63	A	G	14: 75,322,211 (GRCm39)	V631A	probably benign	Het
Man1a	T	C	10: 53,950,819 (GRCm39)	E101G	possibly damaging	Het
Msantd4	T	A	9: 4,384,061 (GRCm39)	N127K	possibly damaging	Het
Myo3b	A	T	2: 70,256,409 (GRCm39)	E1248D	probably benign	Het
Ncapd2	A	T	6: 125,153,699 (GRCm39)	I672N	probably damaging	Het
Nfic	T	C	10: 81,256,634 (GRCm39)		probably null	Het
Nr1h3	A	G	2: 91,021,104 (GRCm39)	S228P	probably damaging	Het
Or8g32	T	C	9: 39,305,618 (GRCm39)	I174T	probably damaging	Het
Pccb	A	T	9: 100,905,349 (GRCm39)		probably null	Het
Pcmtd1	T	G	1: 7,217,906 (GRCm39)	V118G	probably damaging	Het
Pkhd1l1	A	T	15: 44,429,664 (GRCm39)	N3294I	probably damaging	Het
Plscr4	A	G	9: 92,364,796 (GRCm39)	T74A	probably benign	Het
Rasa2	A	T	9: 96,442,803 (GRCm39)	I540N	probably damaging	Het
Serpina3j	C	A	12: 104,283,556 (GRCm39)	T218K	probably benign	Het
Slc16a4	A	G	3: 107,206,589 (GRCm39)	D173G	probably benign	Het
Slc22a19	C	T	19: 7,660,334 (GRCm39)	V359M	probably benign	Het
Slc22a7	T	A	17: 46,745,563 (GRCm39)	M323L	probably benign	Het
Spata21	A	T	4: 140,824,184 (GRCm39)	N149I	possibly damaging	Het
Spink5	G	A	18: 44,110,792 (GRCm39)	G121D	probably damaging	Het
Spink5	T	C	18: 44,143,109 (GRCm39)		probably null	Het
Ssbp4	T	C	8: 71,060,815 (GRCm39)	S6G	possibly damaging	Het
Sytl2	T	C	7: 90,045,772 (GRCm39)	S641P	probably damaging	Het
Tcf3	A	T	10: 80,253,384 (GRCm39)	F215I	probably damaging	Het
Tmem150c	C	A	5: 100,240,680 (GRCm39)	D61Y	probably benign	Het
Ttc7	T	A	17: 87,614,437 (GRCm39)	F201I	probably damaging	Het
Tyw3	T	C	3: 154,285,867 (GRCm39)	I208V	probably benign	Het
Vmn1r202	T	C	13: 22,685,917 (GRCm39)	T167A	probably benign	Het
Vmn1r83	A	T	7: 12,055,763 (GRCm39)	L98Q	probably damaging	Het
Vmn2r95	T	C	17: 18,672,323 (GRCm39)	Y687H	probably damaging	Het
Wdr59	A	T	8: 112,187,445 (GRCm39)	F783L	probably benign	Het
Zfhx4	A	G	3: 5,468,890 (GRCm39)	Y3016C	probably damaging	Het
Zfp518b	T	C	5: 38,830,248 (GRCm39)	T586A	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
R2148:Slc19a2	UTSW	1	164,089,657 (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
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'- AGTATTTCTCCGGGGATAAGGG -3'
(R):5'- AGGTGGCACTTCTACAGTAGC -3'

Sequencing Primer
(F):5'- TTGTAGGAATACATTCTTATGGCTTG -3'
(R):5'- GGCACTTCTACAGTAGCTTGTGAC -3'

Posted On

2018-11-28