Mutagenetix > Incidental Mutation

Incidental Mutation 'R2221:Slc19a1'

241504

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

040223-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2221 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

76868103-76886266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76878320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 285 (T285I)

Ref Sequence

ENSEMBL: ENSMUSP00000116784 (fasta)

Gene Model

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

AlphaFold

P41438

Predicted Effect

probably benign
Transcript: ENSMUST00000105410
AA Change: T285I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101050
Gene: ENSMUSG00000001436
AA Change: T285I

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 benign
Transcript: ENSMUST00000132984

SMART Domains

Protein: ENSMUSP00000116657
Gene: ENSMUSG00000001436

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

probably benign
Transcript: ENSMUST00000136150

SMART Domains

Protein: ENSMUSP00000121237
Gene: ENSMUSG00000001436

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144234
AA Change: T285I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116784
Gene: ENSMUSG00000001436
AA Change: T285I

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

probably benign
Transcript: ENSMUST00000136925
AA Change: T285I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000119382
Gene: ENSMUSG00000001436
AA Change: T285I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	C	4: 86,306,762 (GRCm39)	D1392A	probably benign	Het
Afdn	T	C	17: 14,103,999 (GRCm39)		probably benign	Het
Aph1b	A	T	9: 66,691,921 (GRCm39)	M121K	probably damaging	Het
Aspg	G	A	12: 112,080,868 (GRCm39)	A120T	probably damaging	Het
Bicd1	A	G	6: 149,418,503 (GRCm39)	T725A	probably damaging	Het
Cd1d2	A	T	3: 86,895,847 (GRCm39)	I292F	probably damaging	Het
Cdcp3	A	T	7: 130,849,186 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,120 (GRCm39)	V495A	probably damaging	Het
Cfd	A	T	10: 79,728,039 (GRCm39)		probably null	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cradd	A	C	10: 95,011,735 (GRCm39)	V135G	probably benign	Het
Cry1	A	G	10: 84,979,617 (GRCm39)	C460R	probably damaging	Het
Ctu2	A	G	8: 123,207,649 (GRCm39)	E375G	probably damaging	Het
Dym	T	G	18: 75,363,236 (GRCm39)	I580S	probably damaging	Het
Eif3e	A	G	15: 43,114,943 (GRCm39)	L411P	possibly damaging	Het
Emsy	T	C	7: 98,239,982 (GRCm39)	E1091G	possibly damaging	Het
Enkur	A	G	2: 21,194,130 (GRCm39)		probably benign	Het
Fam184a	G	A	10: 53,531,175 (GRCm39)	T733M	probably damaging	Het
Frem2	G	A	3: 53,424,278 (GRCm39)	A3053V	probably benign	Het
Gbgt1	T	C	2: 28,388,435 (GRCm39)	L40P	probably damaging	Het
Gm5174	T	A	10: 86,492,372 (GRCm39)		noncoding transcript	Het
Gys2	G	T	6: 142,402,148 (GRCm39)	D230E	probably damaging	Het
Herc2	T	A	7: 55,818,766 (GRCm39)		probably null	Het
Hps3	A	T	3: 20,056,527 (GRCm39)	S815R	probably benign	Het
Igf1r	C	A	7: 67,851,710 (GRCm39)	S983R	probably damaging	Het
Itsn1	T	A	16: 91,650,656 (GRCm39)		probably benign	Het
Kcnc2	A	G	10: 112,292,431 (GRCm39)	N91D	probably damaging	Het
Kif28	C	A	1: 179,560,676 (GRCm39)	A210S	possibly damaging	Het
Klri2	T	A	6: 129,717,272 (GRCm39)	Q37L	probably damaging	Het
Lrrc38	T	A	4: 143,096,419 (GRCm39)	C243*	probably null	Het
Map3k5	T	C	10: 19,943,666 (GRCm39)	V590A	possibly damaging	Het
Mdn1	C	A	4: 32,763,306 (GRCm39)	F5135L	probably benign	Het
Megf11	G	A	9: 64,567,713 (GRCm39)	G401S	possibly damaging	Het
Mst1r	T	C	9: 107,785,547 (GRCm39)	F402L	probably damaging	Het
Ntrk3	T	C	7: 77,848,600 (GRCm39)	I759V	probably damaging	Het
Nup188	T	C	2: 30,226,936 (GRCm39)		probably benign	Het
Or4a71	C	T	2: 89,358,281 (GRCm39)	V158I	probably benign	Het
Or8b12i	T	C	9: 20,082,388 (GRCm39)	S160G	possibly damaging	Het
Prdm2	T	C	4: 142,861,469 (GRCm39)	N607S	possibly damaging	Het
Prl2a1	T	A	13: 27,990,369 (GRCm39)		probably null	Het
Serpina9	T	A	12: 103,964,523 (GRCm39)	I305F	probably damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Snap91	T	C	9: 86,674,580 (GRCm39)	T544A	possibly damaging	Het
Srgap3	A	G	6: 112,923,454 (GRCm39)	S2P	probably damaging	Het
Tcof1	A	G	18: 60,970,973 (GRCm39)	V210A	possibly damaging	Het
Tex261	A	G	6: 83,748,497 (GRCm39)	I136T	probably benign	Het
Trpa1	A	T	1: 14,973,480 (GRCm39)	F279L	probably null	Het
Ttc39b	T	C	4: 83,150,999 (GRCm39)	N532S	probably benign	Het
Ttn	T	C	2: 76,572,438 (GRCm39)	T26152A	probably damaging	Het
Ube2w	A	G	1: 16,668,183 (GRCm39)	S97P	possibly damaging	Het
Vmn1r25	A	C	6: 57,956,223 (GRCm39)	L22R	probably damaging	Het
Vmn1r64	T	C	7: 5,887,448 (GRCm39)	I32V	probably benign	Het
Vmn2r112	T	G	17: 22,820,214 (GRCm39)	M29R	possibly damaging	Het
Vmn2r71	T	A	7: 85,273,301 (GRCm39)	M705K	probably benign	Het
Vps13b	G	A	15: 35,884,743 (GRCm39)	V3139I	probably benign	Het
Zfp628	T	C	7: 4,923,830 (GRCm39)	V684A	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
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'- TTTTCAACCGCAGTACGCTTG -3'
(R):5'- ATTAGTGGTCTATCCCAGGGC -3'

Sequencing Primer
(F):5'- CTGTGAGCTGGATCAGATGCAC -3'
(R):5'- TCTATCCCAGGGCAAGGGG -3'

Posted On

2014-10-15