Incidental Mutation 'R2273:Slc46a1'
ID 242663
Institutional Source Beutler Lab
Gene Symbol Slc46a1
Ensembl Gene ENSMUSG00000020829
Gene Name solute carrier family 46, member 1
Synonyms HCP1, heme carrier protein 1, D11Ertd18e, 1110002C08Rik, PCFT
MMRRC Submission 040273-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2273 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 78356527-78362771 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 78357249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 101 (S101A)
Ref Sequence ENSEMBL: ENSMUSP00000001126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001126] [ENSMUST00000146431]
AlphaFold Q6PEM8
Predicted Effect probably benign
Transcript: ENSMUST00000001126
AA Change: S101A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000001126
Gene: ENSMUSG00000020829
AA Change: S101A

DomainStartEndE-ValueType
Pfam:MFS_1 29 443 5.8e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180786
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,667 (GRCm39) C59S possibly damaging Het
Abca5 A T 11: 110,166,107 (GRCm39) N1556K possibly damaging Het
Ackr1 T C 1: 173,160,052 (GRCm39) N156D probably benign Het
Ank3 T A 10: 69,786,772 (GRCm39) probably null Het
Arhgef7 T A 8: 11,865,010 (GRCm39) F374Y possibly damaging Het
Atp11b A G 3: 35,882,762 (GRCm39) I606V probably benign Het
Atp6v1h T A 1: 5,187,699 (GRCm39) D222E probably damaging Het
Bco1 G A 8: 117,835,522 (GRCm39) probably null Het
Cacna1g T A 11: 94,306,762 (GRCm39) E1842V probably damaging Het
Calhm3 T A 19: 47,145,986 (GRCm39) Q73L probably damaging Het
Cdc42bpb C T 12: 111,268,601 (GRCm39) E1200K probably damaging Het
Cdr2 A T 7: 120,557,732 (GRCm39) H264Q possibly damaging Het
Cecr2 C T 6: 120,733,702 (GRCm39) S563L probably benign Het
Cfh C T 1: 140,030,563 (GRCm39) V824M probably damaging Het
Ciapin1 A T 8: 95,558,415 (GRCm39) V99E probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cpxm2 TGCAGCAGCAGCAGCAGCAG TGCAGCAGCAGCAGCAG 7: 131,661,581 (GRCm39) probably benign Het
Crim1 T C 17: 78,662,608 (GRCm39) probably null Het
D7Ertd443e A G 7: 133,871,930 (GRCm39) S644P probably damaging Het
Dnlz A T 2: 26,241,483 (GRCm39) C82S probably damaging Het
F11 T C 8: 45,705,184 (GRCm39) D119G possibly damaging Het
Fat3 T C 9: 15,826,558 (GRCm39) T4465A probably benign Het
Fdxacb1 A G 9: 50,683,321 (GRCm39) E428G probably benign Het
Fn1 C T 1: 71,653,102 (GRCm39) G1296R probably null Het
Gm11568 A G 11: 99,749,070 (GRCm39) S92G unknown Het
Gpr158 A T 2: 21,831,674 (GRCm39) M925L probably benign Het
Hivep2 T C 10: 14,008,187 (GRCm39) M1595T probably benign Het
Hoxd1 A G 2: 74,594,501 (GRCm39) K252R probably damaging Het
Ift88 A G 14: 57,726,393 (GRCm39) K684E possibly damaging Het
Iqck G A 7: 118,498,880 (GRCm39) D173N possibly damaging Het
Kcnc1 A G 7: 46,077,226 (GRCm39) N343D probably damaging Het
Kifap3 T A 1: 163,696,327 (GRCm39) V652D possibly damaging Het
Lrig1 A T 6: 94,585,124 (GRCm39) D840E probably damaging Het
Lrrc7 A G 3: 157,892,696 (GRCm39) S318P probably damaging Het
Map1b A C 13: 99,568,592 (GRCm39) D1376E unknown Het
Marchf1 T A 8: 66,840,151 (GRCm39) N311K probably benign Het
Mier2 T C 10: 79,380,368 (GRCm39) I321V probably damaging Het
Mrc1 G A 2: 14,330,183 (GRCm39) R1264Q probably damaging Het
Nrarp T C 2: 25,071,421 (GRCm39) V100A possibly damaging Het
Nt5c1a T C 4: 123,109,873 (GRCm39) F324S probably damaging Het
Odad2 C A 18: 7,223,676 (GRCm39) G456W probably benign Het
Or2t44 T C 11: 58,677,492 (GRCm39) V144A probably benign Het
Or5d41 A G 2: 88,055,167 (GRCm39) F70L probably benign Het
Or5g29 G T 2: 85,420,932 (GRCm39) G16V probably damaging Het
Or6c35 T C 10: 129,169,326 (GRCm39) I192T probably benign Het
Pcdhb4 C T 18: 37,441,979 (GRCm39) L430F probably damaging Het
Ptpn2 T G 18: 67,810,872 (GRCm39) M256L probably damaging Het
Rph3a C T 5: 121,111,367 (GRCm39) R71H probably damaging Het
Rrm2b T A 15: 37,945,295 (GRCm39) D148V possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc12a3 T A 8: 95,059,915 (GRCm39) I187N possibly damaging Het
Sned1 T A 1: 93,209,364 (GRCm39) probably null Het
Sult1d1 T G 5: 87,703,887 (GRCm39) N266T probably damaging Het
Tjp2 G T 19: 24,090,171 (GRCm39) H624N probably benign Het
Tmcc3 G A 10: 94,414,777 (GRCm39) V160I probably damaging Het
Tsr1 A T 11: 74,795,653 (GRCm39) probably null Het
Tyrp1 A T 4: 80,755,771 (GRCm39) E180V probably damaging Het
Ubr3 T C 2: 69,846,685 (GRCm39) V1636A probably benign Het
Usp1 T C 4: 98,818,079 (GRCm39) L139P probably damaging Het
Vldlr A T 19: 27,225,415 (GRCm39) T859S probably damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn2r94 T A 17: 18,477,593 (GRCm39) M273L probably benign Het
Zc3h6 T C 2: 128,856,629 (GRCm39) Y570H probably benign Het
Zhx2 A G 15: 57,686,565 (GRCm39) S645G probably benign Het
Other mutations in Slc46a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0242:Slc46a1 UTSW 11 78,359,493 (GRCm39) missense possibly damaging 0.58
R0242:Slc46a1 UTSW 11 78,359,493 (GRCm39) missense possibly damaging 0.58
R0255:Slc46a1 UTSW 11 78,361,625 (GRCm39) missense probably damaging 1.00
R1356:Slc46a1 UTSW 11 78,361,550 (GRCm39) missense probably benign 0.16
R2088:Slc46a1 UTSW 11 78,359,471 (GRCm39) missense possibly damaging 0.81
R2274:Slc46a1 UTSW 11 78,357,249 (GRCm39) missense probably benign 0.00
R2275:Slc46a1 UTSW 11 78,357,249 (GRCm39) missense probably benign 0.00
R4627:Slc46a1 UTSW 11 78,357,715 (GRCm39) missense probably benign 0.05
R4682:Slc46a1 UTSW 11 78,359,502 (GRCm39) missense possibly damaging 0.85
R5513:Slc46a1 UTSW 11 78,357,376 (GRCm39) missense probably benign 0.38
R5739:Slc46a1 UTSW 11 78,357,975 (GRCm39) missense possibly damaging 0.95
R6033:Slc46a1 UTSW 11 78,356,833 (GRCm39) critical splice donor site probably null
R6033:Slc46a1 UTSW 11 78,356,833 (GRCm39) critical splice donor site probably null
R6351:Slc46a1 UTSW 11 78,357,985 (GRCm39) missense probably benign 0.13
R6807:Slc46a1 UTSW 11 78,357,790 (GRCm39) missense probably damaging 0.96
R6885:Slc46a1 UTSW 11 78,357,805 (GRCm39) missense probably benign 0.04
R7454:Slc46a1 UTSW 11 78,357,337 (GRCm39) missense probably damaging 0.97
R8425:Slc46a1 UTSW 11 78,359,471 (GRCm39) missense possibly damaging 0.81
R8772:Slc46a1 UTSW 11 78,356,777 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- CATTCCAAGAGGCTTAGGGC -3'
(R):5'- GTGGTTAGAGCTAACATCTGCC -3'

Sequencing Primer
(F):5'- CTCTAAAGCAAGGCTATAGCTCC -3'
(R):5'- GTTAGAGCTAACATCTGCCACAGAG -3'
Posted On 2014-10-16