Incidental Mutation 'R6033:Slc46a1'
ID480528
Institutional Source Beutler Lab
Gene Symbol Slc46a1
Ensembl Gene ENSMUSG00000020829
Gene Namesolute carrier family 46, member 1
Synonyms1110002C08Rik, D11Ertd18e, heme carrier protein 1, HCP1, PCFT
MMRRC Submission 044205-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6033 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location78465697-78472059 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 78466007 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001126] [ENSMUST00000146431]
Predicted Effect probably null
Transcript: ENSMUST00000001126
SMART Domains Protein: ENSMUSP00000001126
Gene: ENSMUSG00000020829

DomainStartEndE-ValueType
Pfam:MFS_1 29 443 5.8e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180786
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 96.9%
  • 20x: 89.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased circulating and liver levels of N-homocysteine and total homocysteine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700125H20Rik A G 11: 85,178,372 E72G probably damaging Het
Adgrl1 T A 8: 83,918,922 V58E probably damaging Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Alas1 A G 9: 106,241,204 S240P probably damaging Het
Alox12e C T 11: 70,316,013 G616D probably benign Het
Arhgap8 A G 15: 84,741,925 E67G probably damaging Het
Ash1l T C 3: 88,985,019 Y1402H probably damaging Het
Ccdc150 G T 1: 54,285,628 probably null Het
Cmtm8 T C 9: 114,796,073 T97A probably damaging Het
Cnmd T C 14: 79,661,505 S36G probably benign Het
Dnah3 A C 7: 120,071,647 N609K probably benign Het
Dph1 C T 11: 75,191,197 probably benign Het
Drosha G A 15: 12,925,999 A1225T probably benign Het
Eid3 T A 10: 82,867,653 I316K probably damaging Het
Erich6 A G 3: 58,623,201 L449S probably benign Het
Fhod1 T C 8: 105,336,434 probably benign Het
Glra1 A G 11: 55,527,419 Y250H probably damaging Het
Gm6768 A G 12: 119,261,740 noncoding transcript Het
Hivep1 A G 13: 42,157,107 E941G probably benign Het
Homer2 A C 7: 81,618,679 S78A possibly damaging Het
Ica1 T A 6: 8,630,799 probably null Het
Ifna12 T C 4: 88,602,917 E131G possibly damaging Het
Igbp1b T C 6: 138,658,209 Y79C probably damaging Het
Incenp C T 19: 9,872,697 V871I probably damaging Het
Jaml G A 9: 45,088,710 G60D probably damaging Het
Kcp C T 6: 29,493,194 C110Y probably damaging Het
Manba T C 3: 135,549,261 V460A probably benign Het
Myrfl A T 10: 116,849,101 C125S probably benign Het
Ncan T C 8: 70,112,590 D229G probably damaging Het
Nlrp10 A T 7: 108,924,577 D565E probably benign Het
Npas2 T C 1: 39,338,180 V541A probably damaging Het
Nsg2 G A 11: 32,055,058 V87M possibly damaging Het
Olfr1040 A T 2: 86,146,269 V155E probably damaging Het
Prkd2 C T 7: 16,865,714 R701C probably damaging Het
Prss36 T C 7: 127,934,567 R22G probably benign Het
Psmd1 T C 1: 86,137,095 Y950H probably damaging Het
Slc45a4 G A 15: 73,581,976 A716V probably damaging Het
Slc6a5 T C 7: 49,959,351 I768T probably benign Het
Slco6c1 C T 1: 97,081,316 probably null Het
Taar2 A T 10: 23,940,976 H138L probably benign Het
Taf2 A C 15: 55,058,901 L330R probably damaging Het
Tgm5 T C 2: 121,070,729 probably null Het
Tmed4 A T 11: 6,274,491 Y56* probably null Het
Tmem156 A T 5: 65,075,621 F135L probably benign Het
Ttll6 T C 11: 96,134,887 S65P probably damaging Het
Ttn C T 2: 76,726,827 G28199R probably damaging Het
Ubn2 T A 6: 38,470,224 probably null Het
Unc80 A T 1: 66,473,260 T110S possibly damaging Het
Vmn2r72 A T 7: 85,737,929 V809E probably damaging Het
Zbtb2 A G 10: 4,368,599 F476L probably damaging Het
Zbtb24 T C 10: 41,464,401 F498L probably damaging Het
Zfp280d T A 9: 72,329,137 L494Q probably damaging Het
Zfp281 T C 1: 136,626,726 S481P probably benign Het
Other mutations in Slc46a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0242:Slc46a1 UTSW 11 78468667 missense possibly damaging 0.58
R0242:Slc46a1 UTSW 11 78468667 missense possibly damaging 0.58
R0255:Slc46a1 UTSW 11 78470799 missense probably damaging 1.00
R1356:Slc46a1 UTSW 11 78470724 missense probably benign 0.16
R2088:Slc46a1 UTSW 11 78468645 missense possibly damaging 0.81
R2273:Slc46a1 UTSW 11 78466423 missense probably benign 0.00
R2274:Slc46a1 UTSW 11 78466423 missense probably benign 0.00
R2275:Slc46a1 UTSW 11 78466423 missense probably benign 0.00
R4627:Slc46a1 UTSW 11 78466889 missense probably benign 0.05
R4682:Slc46a1 UTSW 11 78468676 missense possibly damaging 0.85
R5513:Slc46a1 UTSW 11 78466550 missense probably benign 0.38
R5739:Slc46a1 UTSW 11 78467149 missense possibly damaging 0.95
R6033:Slc46a1 UTSW 11 78466007 critical splice donor site probably null
R6351:Slc46a1 UTSW 11 78467159 missense probably benign 0.13
R6807:Slc46a1 UTSW 11 78466964 missense probably damaging 0.96
R6885:Slc46a1 UTSW 11 78466979 missense probably benign 0.04
R7454:Slc46a1 UTSW 11 78466511 missense probably damaging 0.97
Predicted Primers
Posted On2017-06-26