Incidental Mutation 'R6033:Slc46a1'
ID 480528
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 044205-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6033 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 78356527-78362771 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 78356833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001126] [ENSMUST00000146431]
AlphaFold Q6PEM8
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
Adgrl1 T A 8: 84,645,551 (GRCm39) V58E probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alas1 A G 9: 106,118,403 (GRCm39) S240P probably damaging Het
Alox12e C T 11: 70,206,839 (GRCm39) G616D probably benign Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Ccdc150 G T 1: 54,324,787 (GRCm39) probably null Het
Chct1 A G 11: 85,069,198 (GRCm39) E72G probably damaging Het
Cmtm8 T C 9: 114,625,141 (GRCm39) T97A probably damaging Het
Cnmd T C 14: 79,898,945 (GRCm39) S36G probably benign Het
Dnah3 A C 7: 119,670,870 (GRCm39) N609K probably benign Het
Dph1 C T 11: 75,082,023 (GRCm39) probably benign Het
Drosha G A 15: 12,926,085 (GRCm39) A1225T probably benign Het
Eid3 T A 10: 82,703,487 (GRCm39) I316K probably damaging Het
Erich6 A G 3: 58,530,622 (GRCm39) L449S probably benign Het
Fhod1 T C 8: 106,063,066 (GRCm39) probably benign Het
Glra1 A G 11: 55,418,245 (GRCm39) Y250H probably damaging Het
Hivep1 A G 13: 42,310,583 (GRCm39) E941G probably benign Het
Homer2 A C 7: 81,268,427 (GRCm39) S78A possibly damaging Het
Ica1 T A 6: 8,630,799 (GRCm39) probably null Het
Ifna12 T C 4: 88,521,154 (GRCm39) E131G possibly damaging Het
Igbp1b T C 6: 138,635,207 (GRCm39) Y79C probably damaging Het
Incenp C T 19: 9,850,061 (GRCm39) V871I probably damaging Het
Jaml G A 9: 45,000,008 (GRCm39) G60D probably damaging Het
Kcp C T 6: 29,493,193 (GRCm39) C110Y probably damaging Het
Manba T C 3: 135,255,022 (GRCm39) V460A probably benign Het
Myrfl A T 10: 116,685,006 (GRCm39) C125S probably benign Het
Ncan T C 8: 70,565,240 (GRCm39) D229G probably damaging Het
Ncoa4-ps A G 12: 119,225,475 (GRCm39) noncoding transcript Het
Nlrp10 A T 7: 108,523,784 (GRCm39) D565E probably benign Het
Npas2 T C 1: 39,377,261 (GRCm39) V541A probably damaging Het
Nsg2 G A 11: 32,005,058 (GRCm39) V87M possibly damaging Het
Or5al6 A T 2: 85,976,613 (GRCm39) V155E probably damaging Het
Prkd2 C T 7: 16,599,639 (GRCm39) R701C probably damaging Het
Prr5 A G 15: 84,626,126 (GRCm39) E67G probably damaging Het
Prss36 T C 7: 127,533,739 (GRCm39) R22G probably benign Het
Psmd1 T C 1: 86,064,817 (GRCm39) Y950H probably damaging Het
Slc45a4 G A 15: 73,453,825 (GRCm39) A716V probably damaging Het
Slc6a5 T C 7: 49,609,099 (GRCm39) I768T probably benign Het
Slco6c1 C T 1: 97,009,041 (GRCm39) probably null Het
Taar2 A T 10: 23,816,874 (GRCm39) H138L probably benign Het
Taf2 A C 15: 54,922,297 (GRCm39) L330R probably damaging Het
Tgm5 T C 2: 120,901,210 (GRCm39) probably null Het
Tmed4 A T 11: 6,224,491 (GRCm39) Y56* probably null Het
Tmem156 A T 5: 65,232,964 (GRCm39) F135L probably benign Het
Ttll6 T C 11: 96,025,713 (GRCm39) S65P probably damaging Het
Ttn C T 2: 76,557,171 (GRCm39) G28199R probably damaging Het
Ubn2 T A 6: 38,447,159 (GRCm39) probably null Het
Unc80 A T 1: 66,512,419 (GRCm39) T110S possibly damaging Het
Vmn2r72 A T 7: 85,387,137 (GRCm39) V809E probably damaging Het
Zbtb2 A G 10: 4,318,599 (GRCm39) F476L probably damaging Het
Zbtb24 T C 10: 41,340,397 (GRCm39) F498L probably damaging Het
Zfp280d T A 9: 72,236,419 (GRCm39) L494Q probably damaging Het
Zfp281 T C 1: 136,554,464 (GRCm39) S481P 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
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
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
Posted On 2017-06-26