Incidental Mutation 'R3861:Slc19a1'
ID 276360
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 040788-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3861 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 76868103-76886266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76877809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 115 (V115M)
Ref Sequence ENSEMBL: ENSMUSP00000121237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105410] [ENSMUST00000130703] [ENSMUST00000132984] [ENSMUST00000133059] [ENSMUST00000136150] [ENSMUST00000136925] [ENSMUST00000144234]
AlphaFold P41438
Predicted Effect possibly damaging
Transcript: ENSMUST00000105410
AA Change: V115M

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101050
Gene: ENSMUSG00000001436
AA Change: V115M

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Folate_carrier 23 64 9.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131031
SMART Domains Protein: ENSMUSP00000114884
Gene: ENSMUSG00000001436

DomainStartEndE-ValueType
Pfam:Folate_carrier 1 112 1.3e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000132984
AA Change: V115M

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116657
Gene: ENSMUSG00000001436
AA Change: V115M

DomainStartEndE-ValueType
Pfam:Folate_carrier 23 233 4.8e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133059
SMART Domains Protein: ENSMUSP00000120266
Gene: ENSMUSG00000001436

DomainStartEndE-ValueType
Pfam:Folate_carrier 23 70 7.3e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136150
AA Change: V115M

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121237
Gene: ENSMUSG00000001436
AA Change: V115M

DomainStartEndE-ValueType
Pfam:Folate_carrier 23 242 1.9e-89 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136925
AA Change: V115M

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119382
Gene: ENSMUSG00000001436
AA Change: V115M

DomainStartEndE-ValueType
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: V115M

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116784
Gene: ENSMUSG00000001436
AA Change: V115M

DomainStartEndE-ValueType
Pfam:Folate_carrier 23 427 3e-167 PFAM
Pfam:MFS_1 66 406 2.6e-13 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (55/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik G A 12: 18,583,411 (GRCm39) S157N probably benign Het
A830018L16Rik T C 1: 11,658,778 (GRCm39) probably benign Het
Akip1 C T 7: 109,306,613 (GRCm39) probably benign Het
Anxa5 T C 3: 36,504,807 (GRCm39) T252A probably benign Het
Arhgef10l A G 4: 140,242,798 (GRCm39) F1072L possibly damaging Het
Armc1 C T 3: 19,189,196 (GRCm39) R186Q probably damaging Het
Atxn2l A T 7: 126,101,123 (GRCm39) probably null Het
Cadps2 A G 6: 23,355,860 (GRCm39) I849T probably damaging Het
Ccdc28a T A 10: 18,100,743 (GRCm39) Q28L probably damaging Het
Cdh4 T A 2: 179,515,890 (GRCm39) V356D probably damaging Het
Chd8 T A 14: 52,474,578 (GRCm39) Q151L probably benign Het
Chgb T A 2: 132,635,064 (GRCm39) H335Q probably damaging Het
Col19a1 G A 1: 24,365,098 (GRCm39) P506S probably damaging Het
Col5a2 T C 1: 45,419,397 (GRCm39) T1228A probably damaging Het
Cpxm2 A G 7: 131,656,648 (GRCm39) V538A probably benign Het
Cramp1 A T 17: 25,216,588 (GRCm39) probably benign Het
Cttnbp2 T C 6: 18,423,832 (GRCm39) R831G probably benign Het
Cyp4f17 A G 17: 32,747,078 (GRCm39) D436G probably damaging Het
Dcaf6 A T 1: 165,256,838 (GRCm39) N48K probably damaging Het
Ddx50 C A 10: 62,478,725 (GRCm39) V154L possibly damaging Het
Dnah9 T C 11: 65,943,820 (GRCm39) probably benign Het
Dnm3 T A 1: 162,138,974 (GRCm39) I395L possibly damaging Het
Elp2 C T 18: 24,739,977 (GRCm39) R68C probably benign Het
Frg1 A T 8: 41,860,820 (GRCm39) probably null Het
Fsip2 G T 2: 82,815,120 (GRCm39) D3618Y probably damaging Het
Gabra2 T C 5: 71,130,886 (GRCm39) D314G probably damaging Het
Gramd1a A C 7: 30,835,365 (GRCm39) D407E possibly damaging Het
Grm5 T A 7: 87,779,202 (GRCm39) S881T possibly damaging Het
Ikbkb T A 8: 23,168,852 (GRCm39) I216F possibly damaging Het
Kif3a T C 11: 53,488,805 (GRCm39) V634A probably benign Het
Ltbp1 A T 17: 75,666,333 (GRCm39) Y1342F possibly damaging Het
Mia2 G T 12: 59,155,807 (GRCm39) V508L probably benign Het
Mtus2 C T 5: 148,250,223 (GRCm39) T155M probably damaging Het
Napepld A T 5: 21,888,287 (GRCm39) V54E probably benign Het
Nlrc4 T C 17: 74,752,616 (GRCm39) E589G probably benign Het
Nphp3 G T 9: 103,916,525 (GRCm39) probably benign Het
Nr2f1 T A 13: 78,343,794 (GRCm39) R10* probably null Het
Nsfl1c C A 2: 151,352,824 (GRCm39) probably null Het
Or14a258 A G 7: 86,035,331 (GRCm39) V179A possibly damaging Het
Pcdhgc3 A G 18: 37,941,581 (GRCm39) T661A probably damaging Het
Pdzrn3 A G 6: 101,149,332 (GRCm39) V332A possibly damaging Het
Pip4p2 A G 4: 14,902,506 (GRCm39) N169S probably damaging Het
Pkhd1 C T 1: 20,271,151 (GRCm39) C3134Y probably damaging Het
Ptprz1 T C 6: 23,036,894 (GRCm39) V1131A probably damaging Het
Rccd1 T C 7: 79,970,116 (GRCm39) E167G probably benign Het
Ror1 T C 4: 100,265,120 (GRCm39) I198T possibly damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Scly C T 1: 91,230,573 (GRCm39) probably benign Het
Scn4a T C 11: 106,216,950 (GRCm39) probably benign Het
Sh3rf2 T C 18: 42,286,384 (GRCm39) S594P probably damaging Het
Slc26a6 A T 9: 108,731,395 (GRCm39) probably benign Het
Smg7 C T 1: 152,728,349 (GRCm39) R439K probably null Het
Spata31e3 T C 13: 50,400,887 (GRCm39) K480E probably benign Het
Syne2 A G 12: 76,013,253 (GRCm39) R2815G probably damaging Het
Trim75 G A 8: 65,435,479 (GRCm39) R324C probably damaging Het
Ucp3 T C 7: 100,129,458 (GRCm39) S98P probably benign Het
Zscan29 G C 2: 120,991,212 (GRCm39) R859G probably benign Het
Other mutations in Slc19a1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGAGCAGCCAAGTGTCATTAG -3'
(R):5'- GTGCTTATATGTCCTACGGTGAC -3'

Sequencing Primer
(F):5'- GCCAAGTGTCATTAGTAACCAG -3'
(R):5'- TGAAGACTCCCAGCAGTA -3'
Posted On 2015-04-06