Incidental Mutation 'R5298:Slc23a1'
ID 500926
Institutional Source Beutler Lab
Gene Symbol Slc23a1
Ensembl Gene ENSMUSG00000024354
Gene Name solute carrier family 23 (nucleobase transporters), member 1
Synonyms Slc23a2, SVCT1, D18Ucla2, YSPL3
MMRRC Submission 042881-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R5298 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 35747657-35760297 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 35755563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025212] [ENSMUST00000025212] [ENSMUST00000150877]
AlphaFold Q9Z2J0
Predicted Effect probably null
Transcript: ENSMUST00000025212
SMART Domains Protein: ENSMUSP00000025212
Gene: ENSMUSG00000024354

DomainStartEndE-ValueType
Pfam:Xan_ur_permease 50 484 4.9e-91 PFAM
transmembrane domain 496 518 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000025212
SMART Domains Protein: ENSMUSP00000025212
Gene: ENSMUSG00000024354

DomainStartEndE-ValueType
Pfam:Xan_ur_permease 50 484 4.9e-91 PFAM
transmembrane domain 496 518 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123242
Predicted Effect probably benign
Transcript: ENSMUST00000150877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153293
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ascorbate homeostasis and early postnatal lethality associated with lethargy and lack of gastric milk. Heterozygous mice of homozgous dams exhibit a similar phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,976,086 (GRCm39) V287A possibly damaging Het
Adat2 A G 10: 13,432,650 (GRCm39) N51D probably benign Het
Alms1-ps1 T C 6: 85,729,100 (GRCm39) noncoding transcript Het
Ccdc97 A G 7: 25,415,432 (GRCm39) V12A probably damaging Het
Cdcp2 T C 4: 106,964,182 (GRCm39) V344A probably benign Het
Clasp1 A G 1: 118,475,650 (GRCm39) D929G possibly damaging Het
Clip4 A G 17: 72,141,220 (GRCm39) N525D probably damaging Het
Csde1 T A 3: 102,954,525 (GRCm39) probably null Het
D330020A13Rik T C 6: 120,271,777 (GRCm39) probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Fuca1 C A 4: 135,664,237 (GRCm39) Y374* probably null Het
Gle1 C G 2: 29,838,955 (GRCm39) P457A probably benign Het
Hadhb T C 5: 30,382,009 (GRCm39) probably null Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Lef1 A T 3: 130,988,316 (GRCm39) R294S possibly damaging Het
Lrriq4 G T 3: 30,699,481 (GRCm39) M1I probably null Het
Magi2 T C 5: 20,774,160 (GRCm39) S884P probably damaging Het
Mon2 A G 10: 122,846,511 (GRCm39) I1353T probably benign Het
Or4c127 T A 2: 89,832,804 (GRCm39) L18Q possibly damaging Het
Or5p81 A G 7: 108,267,279 (GRCm39) I219V probably benign Het
Parg C A 14: 31,924,210 (GRCm39) A3E probably damaging Het
Per3 A T 4: 151,113,666 (GRCm39) D297E probably damaging Het
Pkhd1l1 A T 15: 44,367,442 (GRCm39) Y780F probably benign Het
Plcg2 A G 8: 118,331,988 (GRCm39) Y858C probably benign Het
Prkca A T 11: 107,903,510 (GRCm39) N287K probably damaging Het
Qsox2 A C 2: 26,104,074 (GRCm39) S484A probably damaging Het
Reep4 G A 14: 70,785,637 (GRCm39) G225D possibly damaging Het
Scn4a T C 11: 106,230,212 (GRCm39) E532G probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Sowaha C T 11: 53,370,355 (GRCm39) R127Q probably benign Het
Spag9 T C 11: 93,990,961 (GRCm39) W626R probably damaging Het
Tasor2 T C 13: 3,645,613 (GRCm39) probably null Het
Trim45 A G 3: 100,832,787 (GRCm39) D340G probably damaging Het
Vmn1r193 A T 13: 22,403,725 (GRCm39) F89Y probably damaging Het
Zfp507 T C 7: 35,475,421 (GRCm39) N931D probably damaging Het
Other mutations in Slc23a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01825:Slc23a1 APN 18 35,757,256 (GRCm39) missense probably damaging 1.00
IGL01969:Slc23a1 APN 18 35,757,807 (GRCm39) missense possibly damaging 0.93
R0360:Slc23a1 UTSW 18 35,756,032 (GRCm39) splice site probably benign
R1296:Slc23a1 UTSW 18 35,755,676 (GRCm39) missense possibly damaging 0.88
R1720:Slc23a1 UTSW 18 35,758,904 (GRCm39) missense possibly damaging 0.95
R2107:Slc23a1 UTSW 18 35,758,879 (GRCm39) missense possibly damaging 0.89
R2140:Slc23a1 UTSW 18 35,759,487 (GRCm39) missense unknown
R4694:Slc23a1 UTSW 18 35,752,633 (GRCm39) missense probably damaging 0.99
R5593:Slc23a1 UTSW 18 35,755,349 (GRCm39) missense probably damaging 1.00
R5629:Slc23a1 UTSW 18 35,759,545 (GRCm39) missense probably benign 0.00
R5842:Slc23a1 UTSW 18 35,755,935 (GRCm39) missense probably damaging 0.99
R6229:Slc23a1 UTSW 18 35,752,577 (GRCm39) missense probably benign 0.08
R6233:Slc23a1 UTSW 18 35,757,497 (GRCm39) missense probably damaging 1.00
R6268:Slc23a1 UTSW 18 35,752,624 (GRCm39) missense probably damaging 1.00
R6552:Slc23a1 UTSW 18 35,755,391 (GRCm39) missense probably damaging 1.00
R6966:Slc23a1 UTSW 18 35,758,114 (GRCm39) missense probably damaging 1.00
R7070:Slc23a1 UTSW 18 35,754,834 (GRCm39) missense probably damaging 1.00
R7586:Slc23a1 UTSW 18 35,758,891 (GRCm39) missense probably damaging 0.99
R7849:Slc23a1 UTSW 18 35,757,554 (GRCm39) missense probably benign 0.00
R7884:Slc23a1 UTSW 18 35,759,002 (GRCm39) missense possibly damaging 0.79
R8322:Slc23a1 UTSW 18 35,755,588 (GRCm39) missense probably damaging 1.00
R8324:Slc23a1 UTSW 18 35,755,588 (GRCm39) missense probably damaging 1.00
R8341:Slc23a1 UTSW 18 35,755,588 (GRCm39) missense probably damaging 1.00
R8342:Slc23a1 UTSW 18 35,755,588 (GRCm39) missense probably damaging 1.00
R8444:Slc23a1 UTSW 18 35,757,489 (GRCm39) missense possibly damaging 0.95
R8753:Slc23a1 UTSW 18 35,752,631 (GRCm39) missense probably benign 0.01
R9763:Slc23a1 UTSW 18 35,755,364 (GRCm39) missense probably damaging 0.98
X0065:Slc23a1 UTSW 18 35,759,412 (GRCm39) missense unknown
Z1088:Slc23a1 UTSW 18 35,757,561 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TAGCACCTGGGTTGGAATCC -3'
(R):5'- TGAGAGCATCCCACCTTTATCC -3'

Sequencing Primer
(F):5'- CTGGGTTGGAATCCAGGTAG -3'
(R):5'- GGAGTCCATTTATTCACCTAATACC -3'
Posted On 2017-12-01