Mutagenetix > Incidental Mutation

Incidental Mutation 'R3968:Slc19a1'

312446

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

040936-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3968 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

76868103-76886266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76877680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 72 (Y72H)

Ref Sequence

ENSEMBL: ENSMUSP00000119382 (fasta)

Gene Model

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

AlphaFold

P41438

Predicted Effect

probably damaging
Transcript: ENSMUST00000105410
AA Change: Y72H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101050
Gene: ENSMUSG00000001436
AA Change: Y72H

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

probably damaging
Transcript: ENSMUST00000132984
AA Change: Y72H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116657
Gene: ENSMUSG00000001436
AA Change: Y72H

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

Predicted Effect

silent
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

probably damaging
Transcript: ENSMUST00000136150
AA Change: Y72H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121237
Gene: ENSMUSG00000001436
AA Change: Y72H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000136925
AA Change: Y72H

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

SMART Domains

Protein: ENSMUSP00000119382
Gene: ENSMUSG00000001436
AA Change: Y72H

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 damaging
Transcript: ENSMUST00000144234
AA Change: Y72H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116784
Gene: ENSMUSG00000001436
AA Change: Y72H

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

Meta Mutation Damage Score

0.9703

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.1%

Validation Efficiency

98% (40/41)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef12	C	A	9: 42,916,847 (GRCm39)	R432L	probably damaging	Het
Camk4	T	A	18: 33,312,634 (GRCm39)	I258N	possibly damaging	Het
Cdhr2	A	T	13: 54,874,271 (GRCm39)	N781I	probably damaging	Het
Cela1	C	T	15: 100,582,534 (GRCm39)	G93S	probably damaging	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cysltr2	A	G	14: 73,267,614 (GRCm39)	I32T	probably damaging	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fcho2	A	T	13: 98,871,564 (GRCm39)	S551T	probably benign	Het
Fzd8	T	C	18: 9,214,070 (GRCm39)	V384A	probably damaging	Het
Gm14401	T	C	2: 176,778,789 (GRCm39)	Y292H	possibly damaging	Het
H2-M2	C	T	17: 37,792,197 (GRCm39)	G318S	possibly damaging	Het
Il21r	G	T	7: 125,227,215 (GRCm39)		probably null	Het
Itgam	T	C	7: 127,712,205 (GRCm39)	Y697H	probably damaging	Het
Itpkb	A	T	1: 180,155,363 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,713,398 (GRCm39)	K3230M	probably damaging	Het
Ly75	T	C	2: 60,158,217 (GRCm39)	I1023V	possibly damaging	Het
Narf	A	T	11: 121,129,247 (GRCm39)	E10D	possibly damaging	Het
Net1	A	G	13: 3,957,795 (GRCm39)		probably null	Het
Nlrx1	A	T	9: 44,166,722 (GRCm39)		probably benign	Het
Oard1	T	C	17: 48,722,282 (GRCm39)	Y93H	probably damaging	Het
Or4n5	A	T	14: 50,132,983 (GRCm39)	I92N	probably damaging	Het
Or8b54	A	G	9: 38,686,664 (GRCm39)	T38A	probably benign	Het
Pcm1	T	C	8: 41,778,867 (GRCm39)	L1825P	probably damaging	Het
Pecr	G	A	1: 72,315,468 (GRCm39)	T94I	probably damaging	Het
Piezo2	A	T	18: 63,144,767 (GRCm39)	V2776E	probably damaging	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Ppfia2	T	A	10: 106,742,382 (GRCm39)	D1058E	probably damaging	Het
Ppl	T	C	16: 4,918,196 (GRCm39)		probably null	Het
Rab39	G	A	9: 53,597,932 (GRCm39)	A111V	possibly damaging	Het
Sema3g	T	C	14: 30,948,478 (GRCm39)		probably null	Het
Sntb2	T	A	8: 107,723,772 (GRCm39)	Y340*	probably null	Het
Srrm4	A	G	5: 116,582,803 (GRCm39)		probably benign	Het
Ssb	C	T	2: 69,697,793 (GRCm39)		probably benign	Het
Sval2	T	A	6: 41,838,861 (GRCm39)	V14E	probably damaging	Het
Tmc2	T	G	2: 130,043,991 (GRCm39)	V75G	probably benign	Het
Tnnc2	T	C	2: 164,619,457 (GRCm39)	E129G	possibly damaging	Het
Vmn2r94	C	A	17: 18,478,647 (GRCm39)	Q33H	possibly damaging	Het
Yap1	C	T	9: 7,973,877 (GRCm39)	R188Q	probably damaging	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
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'- TAAATGAACGGTGGCTCCCC -3'
(R):5'- CCATGGTGACGCTGTAGAAGAC -3'

Sequencing Primer
(F):5'- AGTTTCTCGGGCTGGAAACACTATC -3'
(R):5'- TGACGCTGTAGAAGACTTCCATG -3'

Posted On

2015-04-29