Mutagenetix > Incidental Mutation

Incidental Mutation 'R2203:Slc19a1'

238844

Institutional Source

Beutler Lab

Gene Symbol

Slc19a1

Ensembl Gene

ENSMUSG00000001436

Gene Name

solute carrier family 19 (folate transporter), member 1

Synonyms

RFC-1, RFC1, reduced folate carrier

MMRRC Submission

040205-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2203 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76868103-76886266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76877758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 98 (C98R)

Ref Sequence

ENSEMBL: ENSMUSP00000116784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105410] [ENSMUST00000130703] [ENSMUST00000132984] [ENSMUST00000133059] [ENSMUST00000136150] [ENSMUST00000144234] [ENSMUST00000136925]

AlphaFold

P41438

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105410
AA Change: C98R

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101050
Gene: ENSMUSG00000001436
AA Change: C98R

Domain	Start	End	E-Value	Type
Pfam:Folate_carrier	23	427	3e-167	PFAM
Pfam:MFS_1	66	406	2.6e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127249

Predicted Effect

probably benign
Transcript: ENSMUST00000130703

SMART Domains

Protein: ENSMUSP00000115658
Gene: ENSMUSG00000001436

Domain	Start	End	E-Value	Type
Pfam:Folate_carrier	23	64	9.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131031

SMART Domains

Protein: ENSMUSP00000114884
Gene: ENSMUSG00000001436

Domain	Start	End	E-Value	Type
Pfam:Folate_carrier	1	112	1.3e-45	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132984
AA Change: C98R

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116657
Gene: ENSMUSG00000001436
AA Change: C98R

Domain	Start	End	E-Value	Type
Pfam:Folate_carrier	23	233	4.8e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133059

SMART Domains

Protein: ENSMUSP00000120266
Gene: ENSMUSG00000001436

Domain	Start	End	E-Value	Type
Pfam:Folate_carrier	23	70	7.3e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136150
AA Change: C98R

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121237
Gene: ENSMUSG00000001436
AA Change: C98R

Domain	Start	End	E-Value	Type
Pfam:Folate_carrier	23	242	1.9e-89	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144234
AA Change: C98R

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116784
Gene: ENSMUSG00000001436
AA Change: C98R

Domain	Start	End	E-Value	Type
Pfam:Folate_carrier	23	427	3e-167	PFAM
Pfam:MFS_1	66	406	2.6e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136925
AA Change: C98R

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119382
Gene: ENSMUSG00000001436
AA Change: C98R

Domain	Start	End	E-Value	Type
Pfam:Folate_carrier	23	426	7.8e-163	PFAM
Pfam:MFS_1	66	405	4.4e-13	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous null embryos die due to abnormalities of hematopoietic organs. Mutant mice may be partially rescued with maternal folic acid supplementation, but these mice still present with hematopoietic organ defects and show impaired development of urogenital structures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,090,291 (GRCm39)	T386I	probably damaging	Het
Abcc5	C	G	16: 20,224,632 (GRCm39)	L44F	possibly damaging	Het
Abi3bp	T	G	16: 56,433,566 (GRCm39)	L550R	probably benign	Het
Brca2	T	A	5: 150,462,967 (GRCm39)	D910E	possibly damaging	Het
Cacna1h	C	T	17: 25,599,234 (GRCm39)	A1742T	probably damaging	Het
Cartpt	A	T	13: 100,037,133 (GRCm39)	S4T	probably benign	Het
Ccdc66	T	A	14: 27,208,790 (GRCm39)	D488V	probably benign	Het
Cdan1	C	A	2: 120,551,241 (GRCm39)	C1093F	probably damaging	Het
Cfap45	T	C	1: 172,359,728 (GRCm39)	V76A	probably benign	Het
Clptm1	G	T	7: 19,367,817 (GRCm39)	F598L	possibly damaging	Het
Cntrl	G	A	2: 35,033,749 (GRCm39)	V257I	possibly damaging	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Crebbp	A	C	16: 3,956,641 (GRCm39)	M394R	possibly damaging	Het
Ctnnd1	A	G	2: 84,447,024 (GRCm39)	L407P	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Fam184a	T	A	10: 53,528,530 (GRCm39)	Q29L	probably damaging	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Gapdh	A	T	6: 125,139,569 (GRCm39)	S165T	probably benign	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Grik4	T	A	9: 42,458,951 (GRCm39)	S596C	probably damaging	Het
Gtf2e1	T	A	16: 37,331,904 (GRCm39)	E390D	possibly damaging	Het
Hmgcr	A	G	13: 96,793,141 (GRCm39)	L497P	probably damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Htr5b	T	C	1: 121,455,693 (GRCm39)	T76A	probably damaging	Het
Iars1	A	G	13: 49,876,151 (GRCm39)	E812G	probably benign	Het
Ints8	A	T	4: 11,225,712 (GRCm39)	M615K	possibly damaging	Het
Jmjd1c	A	G	10: 67,075,242 (GRCm39)		probably null	Het
Kcnj5	T	C	9: 32,234,196 (GRCm39)	T40A	probably benign	Het
Knstrn	T	A	2: 118,661,456 (GRCm39)		probably null	Het
Map2k2	T	C	10: 80,955,213 (GRCm39)	S14P	probably damaging	Het
Med26	T	C	8: 73,249,746 (GRCm39)	E451G	probably damaging	Het
Nbeal1	T	A	1: 60,323,165 (GRCm39)	M2081K	probably benign	Het
Nectin4	G	A	1: 171,213,797 (GRCm39)	V433M	possibly damaging	Het
Nop56	T	A	2: 130,119,488 (GRCm39)	I51N	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
Or4p23	C	G	2: 88,576,953 (GRCm39)	G93A	probably benign	Het
Pbrm1	A	G	14: 30,754,406 (GRCm39)	D142G	possibly damaging	Het
Pdcl	A	T	2: 37,242,056 (GRCm39)	N231K	probably benign	Het
Pkd1	G	T	17: 24,799,863 (GRCm39)	A591S	probably benign	Het
Plcb4	T	C	2: 135,844,514 (GRCm39)	I144T	probably benign	Het
Prrc2b	C	A	2: 32,113,476 (GRCm39)	Q1970K	probably damaging	Het
Rabep1	A	C	11: 70,825,400 (GRCm39)	E689A	probably damaging	Het
Ralgapa1	T	C	12: 55,659,585 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Saxo1	A	C	4: 86,363,998 (GRCm39)	Y162D	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l2	A	T	8: 126,218,366 (GRCm39)	W324R	probably damaging	Het
Slc26a8	G	T	17: 28,866,981 (GRCm39)	L583I	probably benign	Het
Spata31d1d	A	G	13: 59,879,435 (GRCm39)	C34R	possibly damaging	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843 (GRCm39)	L531P	possibly damaging	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Ttc39a	A	G	4: 109,288,785 (GRCm39)	N293S	probably benign	Het
Ttn	T	C	2: 76,601,985 (GRCm39)	N18559S	possibly damaging	Het
Vmn2r104	A	T	17: 20,250,083 (GRCm39)	N729K	probably benign	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfp712	T	A	13: 67,190,048 (GRCm39)	T160S	probably benign	Het

Other mutations in Slc19a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0112:Slc19a1	UTSW	10	76,877,999 (GRCm39)	missense	probably benign	0.04
R0211:Slc19a1	UTSW	10	76,874,300 (GRCm39)	missense	possibly damaging	0.92
R0419:Slc19a1	UTSW	10	76,878,742 (GRCm39)	missense	probably damaging	1.00
R1459:Slc19a1	UTSW	10	76,878,369 (GRCm39)	nonsense	probably null
R1725:Slc19a1	UTSW	10	76,877,672 (GRCm39)	missense	probably benign	0.03
R2202:Slc19a1	UTSW	10	76,877,758 (GRCm39)	missense	possibly damaging	0.71
R2221:Slc19a1	UTSW	10	76,878,320 (GRCm39)	missense	probably benign	0.00
R3861:Slc19a1	UTSW	10	76,877,809 (GRCm39)	missense	possibly damaging	0.88
R3968:Slc19a1	UTSW	10	76,877,680 (GRCm39)	missense	probably damaging	1.00
R5800:Slc19a1	UTSW	10	76,878,103 (GRCm39)	missense	probably null	0.00
R6106:Slc19a1	UTSW	10	76,880,603 (GRCm39)	missense	probably damaging	1.00
R6501:Slc19a1	UTSW	10	76,885,440 (GRCm39)	missense	probably benign	0.11
R6992:Slc19a1	UTSW	10	76,885,540 (GRCm39)	missense	possibly damaging	0.86
R7909:Slc19a1	UTSW	10	76,885,374 (GRCm39)	missense	probably damaging	1.00
R8482:Slc19a1	UTSW	10	76,885,497 (GRCm39)	missense	probably benign	0.00
R9081:Slc19a1	UTSW	10	76,877,750 (GRCm39)	missense	possibly damaging	0.91
R9457:Slc19a1	UTSW	10	76,885,605 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAAGGTAGACTCTTGCATGC -3'
(R):5'- AGAGCTGATGAAGACTCCCAGC -3'

Sequencing Primer
(F):5'- AAGGTAGACTCTTGCATGCTCACTC -3'
(R):5'- TGATGAAGACTCCCAGCAGTACTG -3'

Posted On

2014-10-02