Incidental Mutation 'R2274:Slc46a1'
ID 244989
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2274 (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: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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: 70 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
Abcb10 G T 8: 124,709,491 (GRCm39) A21E probably benign Het
Ackr1 T C 1: 173,160,052 (GRCm39) N156D probably benign Het
Adamtsl3 A T 7: 82,255,766 (GRCm39) S1593C probably benign Het
Ank3 T A 10: 69,786,772 (GRCm39) probably null Het
Aqp4 A G 18: 15,526,537 (GRCm39) S315P probably benign Het
Atp7b T C 8: 22,510,848 (GRCm39) I433V probably benign 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
Car5a C T 8: 122,671,408 (GRCm39) probably null Het
Cdk11b T A 4: 155,732,051 (GRCm39) probably benign Het
Cdr2 A T 7: 120,557,732 (GRCm39) H264Q possibly damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging 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
Egr4 A T 6: 85,489,725 (GRCm39) F112I probably damaging Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
F11 T C 8: 45,705,184 (GRCm39) D119G possibly damaging Het
Fat4 T A 3: 39,050,048 (GRCm39) V3970D possibly damaging Het
Fbxw5 C A 2: 25,394,773 (GRCm39) C222* probably null Het
Fn1 C T 1: 71,653,102 (GRCm39) G1296R probably null Het
Ghr A G 15: 3,349,507 (GRCm39) V557A probably benign Het
Gm11568 A G 11: 99,749,070 (GRCm39) S92G unknown Het
Gpatch1 A T 7: 34,988,103 (GRCm39) S678T probably benign Het
Gpr155 A G 2: 73,178,479 (GRCm39) probably null Het
Gucy2f A T X: 140,899,269 (GRCm39) M697K probably benign Het
Hecw1 T C 13: 14,520,653 (GRCm39) T195A probably benign Het
Hoxd1 A G 2: 74,594,501 (GRCm39) K252R probably damaging Het
Iqck G A 7: 118,498,880 (GRCm39) D173N possibly damaging Het
Irf8 A G 8: 121,480,266 (GRCm39) E168G probably damaging Het
Kcnh1 T G 1: 192,019,829 (GRCm39) V358G probably damaging Het
Kifap3 T A 1: 163,696,327 (GRCm39) V652D possibly damaging Het
L3hypdh T C 12: 72,131,632 (GRCm39) Y100C possibly damaging Het
Map4k1 T A 7: 28,701,382 (GRCm39) H729Q probably damaging 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
Mta1 C T 12: 113,091,770 (GRCm39) S291L probably damaging Het
Myh2 A G 11: 67,081,184 (GRCm39) K1267E possibly damaging Het
Nbea A T 3: 55,895,506 (GRCm39) probably null Het
Nexmif T G X: 103,131,452 (GRCm39) E155A possibly damaging Het
Nkpd1 A G 7: 19,257,822 (GRCm39) I534V probably benign Het
Nxph1 G T 6: 9,247,746 (GRCm39) C239F probably damaging Het
Odc1 A G 12: 17,598,425 (GRCm39) I189V probably benign Het
Or1n1 A T 2: 36,750,113 (GRCm39) N82K probably damaging 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
Or6c35 T C 10: 129,169,326 (GRCm39) I192T probably benign Het
Pcdhb15 T C 18: 37,608,496 (GRCm39) L576P probably damaging Het
Raph1 T C 1: 60,537,659 (GRCm39) D499G probably damaging Het
Rptor T A 11: 119,647,148 (GRCm39) C246* probably null Het
Rtl1 T C 12: 109,561,101 (GRCm39) E246G unknown 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
Slc4a8 A G 15: 100,705,283 (GRCm39) M830V probably benign Het
Sned1 T A 1: 93,209,364 (GRCm39) probably null Het
St3gal6 T A 16: 58,309,332 (GRCm39) E34D possibly damaging Het
Tcstv3 C T 13: 120,779,190 (GRCm39) Q30* probably null Het
Tex16 T A X: 111,030,838 (GRCm39) D1112E probably damaging Het
Tmcc3 G A 10: 94,414,777 (GRCm39) V160I probably damaging Het
Tmf1 T A 6: 97,140,547 (GRCm39) L776F 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
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn1r49 G A 6: 90,049,126 (GRCm39) T292I probably benign Het
Wdr19 T A 5: 65,398,334 (GRCm39) M853K possibly damaging Het
Zkscan8 C T 13: 21,705,966 (GRCm39) M265I 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
R2273: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'- ACATTCCAAGAGGCTTAGGGC -3'
(R):5'- TGGTTAGAGCTAACATCTGCCAC -3'

Sequencing Primer
(F):5'- CTCTAAAGCAAGGCTATAGCTCC -3'
(R):5'- TTAGAGCTAACATCTGCCACAGAGG -3'
Posted On 2014-10-30