Mutagenetix > Incidental Mutation

Incidental Mutation 'R2202:Slc19a1'

238762

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

040204-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2202 (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: 97.5%
20x: 95.6%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,056,011 (GRCm39)	V249A	possibly damaging	Het
9930111J21Rik2	C	G	11: 48,910,149 (GRCm39)	L761F	probably damaging	Het
Abca1	G	A	4: 53,090,291 (GRCm39)	T386I	probably damaging	Het
Abca14	T	C	7: 119,888,764 (GRCm39)	Y1237H	probably benign	Het
Abi3bp	C	T	16: 56,471,088 (GRCm39)	R578*	probably null	Het
Abi3bp	T	G	16: 56,433,566 (GRCm39)	L550R	probably benign	Het
Adamts7	A	T	9: 90,062,729 (GRCm39)	K394N	probably damaging	Het
Ahdc1	A	G	4: 132,793,220 (GRCm39)	E1487G	possibly damaging	Het
AI987944	T	C	7: 41,023,950 (GRCm39)	E343G	probably damaging	Het
Ankrd26	T	A	6: 118,500,843 (GRCm39)	H876L	possibly damaging	Het
Atg16l1	A	C	1: 87,694,737 (GRCm39)	Q138P	probably benign	Het
Atp1b1	G	T	1: 164,281,084 (GRCm39)	T11K	probably benign	Het
Calr3	A	G	8: 73,188,683 (GRCm39)	L40S	probably damaging	Het
Ccar1	A	C	10: 62,581,066 (GRCm39)	D1119E	unknown	Het
Cdan1	C	A	2: 120,551,241 (GRCm39)	C1093F	probably damaging	Het
Cdk12	T	G	11: 98,101,464 (GRCm39)	S441A	unknown	Het
Ces4a	T	A	8: 105,872,746 (GRCm39)	V333E	probably damaging	Het
Cfap61	T	C	2: 146,056,600 (GRCm39)	L1193P	probably damaging	Het
Chd2	A	T	7: 73,128,416 (GRCm39)	D856E	probably benign	Het
Chil3	T	C	3: 106,071,562 (GRCm39)	D34G	probably benign	Het
Cln3	T	A	7: 126,178,390 (GRCm39)	H211L	probably benign	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Dcstamp	T	A	15: 39,617,708 (GRCm39)	V39E	probably damaging	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Duox1	A	G	2: 122,175,194 (GRCm39)	T1331A	probably benign	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
Fcer2a	T	C	8: 3,738,557 (GRCm39)	E60G	possibly damaging	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Fnbp1l	A	T	3: 122,340,611 (GRCm39)	M463K	probably benign	Het
Garem2	A	G	5: 30,319,762 (GRCm39)	D408G	probably benign	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Gpc3	T	A	X: 51,486,083 (GRCm39)	I344F	probably damaging	Het
Gtf2e1	T	A	16: 37,331,904 (GRCm39)	E390D	possibly damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Il15ra	T	A	2: 11,723,155 (GRCm39)		probably null	Het
Ints8	A	T	4: 11,225,712 (GRCm39)	M615K	possibly damaging	Het
Irak1	G	A	X: 73,060,744 (GRCm39)	T193I	probably damaging	Het
Jmjd1c	A	G	10: 67,075,242 (GRCm39)		probably null	Het
Knstrn	T	A	2: 118,661,456 (GRCm39)		probably null	Het
Letm1	C	A	5: 33,926,830 (GRCm39)	V156L	possibly damaging	Het
Lrrc24	G	A	15: 76,607,111 (GRCm39)	P95L	probably damaging	Het
Map2k2	T	C	10: 80,955,213 (GRCm39)	S14P	probably damaging	Het
Me3	T	C	7: 89,499,589 (GRCm39)	Y535H	probably damaging	Het
Nfatc2ip	T	C	7: 125,990,467 (GRCm39)	E178G	probably benign	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
Or10a2	T	A	7: 106,673,523 (GRCm39)	W163R	probably damaging	Het
Or2m12	C	T	16: 19,105,047 (GRCm39)	A149T	probably benign	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
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pid1	T	A	1: 84,016,159 (GRCm39)	I69F	probably damaging	Het
Pkhd1	A	G	1: 20,607,584 (GRCm39)	S1091P	probably benign	Het
Plcb4	T	C	2: 135,844,514 (GRCm39)	I144T	probably benign	Het
Plxnd1	T	C	6: 115,939,725 (GRCm39)	N1418S	probably benign	Het
Pmm1	T	C	15: 81,840,601 (GRCm39)	T82A	probably benign	Het
Prrc2b	C	A	2: 32,113,476 (GRCm39)	Q1970K	probably damaging	Het
Ptprz1	C	T	6: 23,000,649 (GRCm39)	T913M	possibly damaging	Het
Ralgapa1	T	C	12: 55,659,585 (GRCm39)		probably null	Het
Rbm8a2	T	C	1: 175,806,420 (GRCm39)	E19G	possibly damaging	Het
Rgs3	T	C	4: 62,608,741 (GRCm39)	S336P	probably damaging	Het
Saxo5	A	T	8: 3,529,028 (GRCm39)	D201V	probably benign	Het
Serpina11	G	T	12: 103,952,233 (GRCm39)	T179K	probably damaging	Het
Serpina1f	T	C	12: 103,659,655 (GRCm39)	N209S	possibly damaging	Het
Serpinf2	G	A	11: 75,327,588 (GRCm39)	T159I	probably benign	Het
Slc22a20	A	T	19: 6,021,553 (GRCm39)	I483N	possibly damaging	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
Timd5	A	G	11: 46,419,394 (GRCm39)	N70S	probably benign	Het
Tln1	C	T	4: 43,553,083 (GRCm39)		probably null	Het
Tmem39b	A	C	4: 129,587,716 (GRCm39)	S32A	probably benign	Het
Tmx3	T	C	18: 90,546,037 (GRCm39)	F206S	probably damaging	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Trappc10	A	G	10: 78,034,876 (GRCm39)		probably null	Het
Tssk2	A	G	16: 17,716,603 (GRCm39)	D2G	possibly damaging	Het
Ttn	T	C	2: 76,601,985 (GRCm39)	N18559S	possibly damaging	Het
Ube3b	G	A	5: 114,527,135 (GRCm39)	V118M	probably damaging	Het
Vmn1r23	T	C	6: 57,903,604 (GRCm39)	D58G	probably benign	Het
Vmn2r53	T	A	7: 12,335,366 (GRCm39)	Y98F	probably damaging	Het
Vmn2r58	T	A	7: 41,513,594 (GRCm39)	N350Y	probably benign	Het
Vmn2r82	A	T	10: 79,192,519 (GRCm39)	H32L	probably benign	Het
Wsb1	T	C	11: 79,131,212 (GRCm39)	I395V	probably benign	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfat	T	C	15: 68,051,709 (GRCm39)	D695G	probably benign	Het
Zfp358	G	T	8: 3,546,995 (GRCm39)	V526F	possibly damaging	Het
Zmat1	A	G	X: 133,873,861 (GRCm39)	L476P	possibly 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
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
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'- GGCAAGGTAGACTCTTGCATGC -3'
(R):5'- GAGCTGATGAAGACTCCCAG -3'

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

Posted On

2014-10-02