Incidental Mutation 'IGL01825:Slc23a1'
ID 154645
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc23a1
Ensembl Gene ENSMUSG00000024354
Gene Name solute carrier family 23 (nucleobase transporters), member 1
Synonyms Slc23a2, SVCT1, D18Ucla2, YSPL3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # IGL01825
Quality Score
Status
Chromosome 18
Chromosomal Location 35747657-35760297 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35757256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 272 (W272R)
Ref Sequence ENSEMBL: ENSMUSP00000025212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025212] [ENSMUST00000150877]
AlphaFold Q9Z2J0
Predicted Effect probably damaging
Transcript: ENSMUST00000025212
AA Change: W272R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025212
Gene: ENSMUSG00000024354
AA Change: W272R

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
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,069,217 (GRCm39) E222G probably damaging Het
Aftph T A 11: 20,676,569 (GRCm39) I347F possibly damaging Het
Braf T C 6: 39,616,524 (GRCm39) D549G probably damaging Het
Cnbd2 T A 2: 156,180,629 (GRCm39) L142Q probably damaging Het
Ctbp1 C T 5: 33,416,477 (GRCm39) probably null Het
Cuta T C 17: 27,157,438 (GRCm39) I98V probably benign Het
Dip2a A T 10: 76,108,514 (GRCm39) C1226* probably null Het
Dnah6 T C 6: 73,042,759 (GRCm39) E3221G probably damaging Het
Grm3 A G 5: 9,561,600 (GRCm39) L750P probably damaging Het
Herc1 T C 9: 66,307,089 (GRCm39) Y970H probably benign Het
Hnrnpr T A 4: 136,066,850 (GRCm39) Y470* probably null Het
Kmt2c T A 5: 25,515,594 (GRCm39) I2750F probably damaging Het
Lrig3 A T 10: 125,845,886 (GRCm39) T772S probably damaging Het
Mthfd2 T C 6: 83,287,493 (GRCm39) T191A probably benign Het
Or5p78 C A 7: 108,212,261 (GRCm39) T249K probably damaging Het
Pfkp A T 13: 6,671,014 (GRCm39) N175K probably damaging Het
Plcz1 T C 6: 139,949,642 (GRCm39) D451G probably benign Het
Plxna2 T A 1: 194,471,210 (GRCm39) C994S probably damaging Het
Ptdss1 T C 13: 67,135,886 (GRCm39) I381T probably benign Het
Scgb2b24 G T 7: 33,438,652 (GRCm39) T20K probably damaging Het
Tcf20 G A 15: 82,737,167 (GRCm39) T1428I probably benign Het
Tnfsf9 A G 17: 57,414,335 (GRCm39) D254G possibly damaging Het
Ttc4 C T 4: 106,528,816 (GRCm39) probably null Het
Xdh A G 17: 74,198,240 (GRCm39) Y1216H probably damaging Het
Zbtb21 G T 16: 97,753,889 (GRCm39) N159K possibly damaging Het
Other mutations in Slc23a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5298:Slc23a1 UTSW 18 35,755,563 (GRCm39) critical splice donor site probably null
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
Posted On 2014-02-04