Mutagenetix > Incidental Mutation

Incidental Mutation 'R6501:Slc19a1'

519736

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

044633-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6501 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76868103-76886266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76885440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 447 (G447S)

Ref Sequence

ENSEMBL: ENSMUSP00000116784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072755] [ENSMUST00000081654] [ENSMUST00000105409] [ENSMUST00000105410] [ENSMUST00000136925] [ENSMUST00000144234]

AlphaFold

P41438

Predicted Effect

probably benign
Transcript: ENSMUST00000072755

SMART Domains

Protein: ENSMUSP00000072538
Gene: ENSMUSG00000001435

Domain	Start	End	E-Value	Type
Pfam:DUF959	16	218	6.8e-104	PFAM
low complexity region	295	307	N/A	INTRINSIC
FRI	369	484	4.03e-47	SMART
TSPN	492	680	4.25e-72	SMART
LamG	541	679	2.17e-2	SMART
low complexity region	699	715	N/A	INTRINSIC
low complexity region	719	734	N/A	INTRINSIC
low complexity region	739	751	N/A	INTRINSIC
Pfam:Collagen	820	881	5.5e-11	PFAM
low complexity region	921	942	N/A	INTRINSIC
Pfam:Collagen	951	1008	6.1e-10	PFAM
Pfam:Collagen	988	1053	1.4e-8	PFAM
Pfam:Collagen	1060	1117	7.3e-10	PFAM
low complexity region	1132	1147	N/A	INTRINSIC
low complexity region	1166	1181	N/A	INTRINSIC
low complexity region	1186	1202	N/A	INTRINSIC
Pfam:Collagen	1207	1267	8.2e-10	PFAM
low complexity region	1275	1288	N/A	INTRINSIC
low complexity region	1301	1319	N/A	INTRINSIC
low complexity region	1358	1393	N/A	INTRINSIC
low complexity region	1397	1414	N/A	INTRINSIC
low complexity region	1417	1433	N/A	INTRINSIC
low complexity region	1441	1454	N/A	INTRINSIC
Pfam:Endostatin	1461	1769	4.4e-116	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081654

SMART Domains

Protein: ENSMUSP00000080358
Gene: ENSMUSG00000001435

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
TSPN	33	221	4.25e-72	SMART
LamG	82	220	2.17e-2	SMART
low complexity region	240	256	N/A	INTRINSIC
low complexity region	260	275	N/A	INTRINSIC
low complexity region	280	292	N/A	INTRINSIC
Pfam:Collagen	359	422	1.6e-10	PFAM
low complexity region	462	483	N/A	INTRINSIC
Pfam:Collagen	492	549	1.6e-9	PFAM
Pfam:Collagen	529	594	3.3e-8	PFAM
Pfam:Collagen	601	658	1.9e-9	PFAM
Pfam:Collagen	631	689	4e-8	PFAM
Pfam:Collagen	701	752	1.7e-7	PFAM
Pfam:Collagen	748	808	2.2e-9	PFAM
low complexity region	816	829	N/A	INTRINSIC
low complexity region	842	860	N/A	INTRINSIC
low complexity region	899	934	N/A	INTRINSIC
low complexity region	938	955	N/A	INTRINSIC
low complexity region	958	974	N/A	INTRINSIC
low complexity region	982	995	N/A	INTRINSIC
Pfam:Endostatin	999	1315	8.2e-151	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105409

SMART Domains

Protein: ENSMUSP00000101049
Gene: ENSMUSG00000001435

Domain	Start	End	E-Value	Type
Pfam:DUF959	16	219	3.6e-100	PFAM
TSPN	245	433	4.25e-72	SMART
LamG	294	432	2.17e-2	SMART
low complexity region	452	468	N/A	INTRINSIC
low complexity region	472	487	N/A	INTRINSIC
low complexity region	492	504	N/A	INTRINSIC
low complexity region	542	613	N/A	INTRINSIC
low complexity region	630	648	N/A	INTRINSIC
low complexity region	674	695	N/A	INTRINSIC
Pfam:Collagen	700	761	5.4e-9	PFAM
Pfam:Collagen	741	806	4e-8	PFAM
Pfam:Collagen	813	874	2.1e-10	PFAM
Pfam:Collagen	846	901	1.2e-7	PFAM
Pfam:Collagen	913	964	2.1e-7	PFAM
Pfam:Collagen	960	1020	2.6e-9	PFAM
low complexity region	1028	1041	N/A	INTRINSIC
low complexity region	1054	1072	N/A	INTRINSIC
low complexity region	1111	1146	N/A	INTRINSIC
low complexity region	1150	1167	N/A	INTRINSIC
low complexity region	1170	1186	N/A	INTRINSIC
low complexity region	1194	1207	N/A	INTRINSIC
Pfam:Endostatin	1211	1527	1.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105410
AA Change: G447S

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101050
Gene: ENSMUSG00000001436
AA Change: G447S

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: ENSMUST00000131031

SMART Domains

Protein: ENSMUSP00000114884
Gene: ENSMUSG00000001436

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136925

SMART Domains

Protein: ENSMUSP00000119382
Gene: ENSMUSG00000001436

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144234
AA Change: G447S

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116784
Gene: ENSMUSG00000001436
AA Change: G447S

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	T	8: 71,914,165 (GRCm39)	C154*	probably null	Het
Ada	A	G	2: 163,570,108 (GRCm39)		probably null	Het
Birc6	G	A	17: 74,886,276 (GRCm39)	V535I	probably damaging	Het
Bptf	T	C	11: 106,968,509 (GRCm39)	N1058S	probably null	Het
Cdadc1	C	T	14: 59,823,898 (GRCm39)	C198Y	probably benign	Het
Chrna7	G	A	7: 62,755,863 (GRCm39)	R228C	probably damaging	Het
Cts6	T	C	13: 61,344,149 (GRCm39)	N301S	probably damaging	Het
Cts8	T	A	13: 61,398,756 (GRCm39)	D250V	probably damaging	Het
Cyp26a1	G	T	19: 37,687,518 (GRCm39)	R235L	possibly damaging	Het
Disc1	A	T	8: 125,944,844 (GRCm39)	M598L	probably benign	Het
Ear6	T	A	14: 52,091,681 (GRCm39)	V76D	possibly damaging	Het
Grifin	A	G	5: 140,549,036 (GRCm39)	*145R	probably null	Het
Htr2b	T	G	1: 86,038,363 (GRCm39)	E11A	probably damaging	Het
Krtap4-9	T	A	11: 99,676,255 (GRCm39)		probably benign	Het
Larp4b	A	C	13: 9,218,829 (GRCm39)	H522P	probably damaging	Het
Macf1	A	T	4: 123,363,425 (GRCm39)		probably null	Het
Mdfic	T	C	6: 15,770,516 (GRCm39)	L174P	possibly damaging	Het
Mmp17	A	G	5: 129,683,469 (GRCm39)	E535G	probably benign	Het
Nfxl1	A	T	5: 72,685,852 (GRCm39)		probably null	Het
Nynrin	A	T	14: 56,100,989 (GRCm39)	T260S	probably benign	Het
Or4k44	C	T	2: 111,368,124 (GRCm39)	G170D	probably damaging	Het
Or7e168	A	T	9: 19,720,271 (GRCm39)	Y219F	possibly damaging	Het
Or8b1c	A	T	9: 38,384,585 (GRCm39)	I181F	possibly damaging	Het
Pbx1	G	T	1: 168,037,103 (GRCm39)	D109E	probably damaging	Het
Pde4d	A	T	13: 109,253,476 (GRCm39)	H101L	probably benign	Het
Pdlim3	T	C	8: 46,361,639 (GRCm39)	I155T	possibly damaging	Het
Plekha5	T	A	6: 140,471,655 (GRCm39)	Y26*	probably null	Het
Prpf6	T	A	2: 181,263,713 (GRCm39)	L191*	probably null	Het
Rabl6	A	G	2: 25,492,459 (GRCm39)	V80A	possibly damaging	Het
Rp1	T	C	1: 4,381,503 (GRCm39)		probably benign	Het
Sec14l1	A	G	11: 117,047,676 (GRCm39)	S698G	probably damaging	Het
Skic2	A	G	17: 35,063,412 (GRCm39)	S622P	possibly damaging	Het
Slc2a6	A	T	2: 26,913,143 (GRCm39)	Y383*	probably null	Het
Slc9a9	C	A	9: 94,818,424 (GRCm39)	Q273K	probably benign	Het
Spint2	A	G	7: 28,963,131 (GRCm39)	Y56H	probably damaging	Het
Sspo	T	A	6: 48,472,146 (GRCm39)	M123K	possibly damaging	Het
Syne2	A	G	12: 76,074,621 (GRCm39)		probably null	Het
Trdn	A	C	10: 33,342,450 (GRCm39)	K619N	probably benign	Het
Ttll13	A	G	7: 79,899,924 (GRCm39)	T119A	possibly damaging	Het
Ttn	T	C	2: 76,615,990 (GRCm39)	Y8324C	probably damaging	Het
Ttn	T	C	2: 76,728,602 (GRCm39)		probably benign	Het
Vav2	A	G	2: 27,186,231 (GRCm39)	L208P	probably damaging	Het
Vmn1r179	A	G	7: 23,628,342 (GRCm39)	I178V	probably benign	Het
Vmn1r210	T	C	13: 23,011,705 (GRCm39)	M194V	possibly damaging	Het
Vmn2r103	A	T	17: 20,032,166 (GRCm39)	T647S	probably benign	Het
Wdr49	T	A	3: 75,246,765 (GRCm39)	H289L	probably benign	Het
Wnk2	T	G	13: 49,300,159 (GRCm39)	K184Q	probably damaging	Het
Zfp758	A	G	17: 22,590,978 (GRCm39)		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
R2203: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
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'- CAAAGCCTGTGACTCCTCAG -3'
(R):5'- AGCCTTGGCTTCGACTCTTAAG -3'

Sequencing Primer
(F):5'- AGTGTCCTCTGGCCACCTG -3'
(R):5'- ACTCTTAAGTCTCCCCTGTCG -3'

Posted On

2018-06-06