Incidental Mutation 'IGL02470:Slc15a3'
ID 294684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc15a3
Ensembl Gene ENSMUSG00000024737
Gene Name solute carrier family 15, member 3
Synonyms cI-1, Ci1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02470
Quality Score
Status
Chromosome 19
Chromosomal Location 10839727-10859362 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10853170 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 295 (N295S)
Ref Sequence ENSEMBL: ENSMUSP00000025646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025645] [ENSMUST00000025646] [ENSMUST00000120524]
AlphaFold Q8BPX9
Predicted Effect probably benign
Transcript: ENSMUST00000025645
SMART Domains Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:TMEM132D_N 44 167 1.6e-35 PFAM
low complexity region 206 223 N/A INTRINSIC
Pfam:TMEM132 403 745 4.1e-108 PFAM
low complexity region 759 776 N/A INTRINSIC
Pfam:TMEM132D_C 809 897 1.5e-31 PFAM
low complexity region 906 923 N/A INTRINSIC
low complexity region 932 944 N/A INTRINSIC
low complexity region 960 976 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000025646
AA Change: N295S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025646
Gene: ENSMUSG00000024737
AA Change: N295S

DomainStartEndE-ValueType
low complexity region 21 37 N/A INTRINSIC
Pfam:MFS_1 38 508 3.4e-10 PFAM
Pfam:PTR2 101 519 3.2e-79 PFAM
transmembrane domain 538 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120524
SMART Domains Protein: ENSMUSP00000113696
Gene: ENSMUSG00000024736

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
low complexity region 206 223 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138263
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: The gene is involved in pathogen sensing by dendritic cells. Homozygous KO results in a reduction of the number of these cells displaying tubular endo-lysosomes after LPS treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,615,222 M255K probably damaging Het
Adcy10 A G 1: 165,567,726 Y1422C probably damaging Het
Adnp T A 2: 168,183,194 K727I probably damaging Het
Akr1c21 A T 13: 4,577,407 N167Y probably damaging Het
Arl4a T C 12: 40,036,748 probably benign Het
BB014433 A T 8: 15,042,803 F17I unknown Het
Best1 T C 19: 9,992,976 S91G probably benign Het
Ccdc148 A T 2: 59,001,899 S235T probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dcc A T 18: 71,955,082 probably benign Het
Dnajc13 G A 9: 104,175,747 T1672I probably benign Het
Elf3 A T 1: 135,255,012 F325Y probably damaging Het
Enpp2 A G 15: 54,839,460 L880P probably damaging Het
Fndc3b A G 3: 27,461,720 Y646H probably damaging Het
Fzd6 A T 15: 39,036,557 probably benign Het
Gnb1 T A 4: 155,527,513 probably benign Het
Mast1 C A 8: 84,921,212 G511V probably damaging Het
Mcmbp T C 7: 128,704,621 I424M possibly damaging Het
Mobp A G 9: 120,168,006 T68A probably benign Het
Myh11 T C 16: 14,218,046 E1006G probably damaging Het
Ncstn A G 1: 172,082,599 probably null Het
Olfr1089 A T 2: 86,733,585 V9E probably damaging Het
Olfr340 A G 2: 36,452,597 D4G probably benign Het
Phip A T 9: 82,890,454 V1075D possibly damaging Het
Serpinb1a C T 13: 32,850,393 S5N probably damaging Het
Trmt13 A C 3: 116,590,228 probably null Het
Trp63 A C 16: 25,820,384 probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Slc15a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Slc15a3 APN 19 10853263 missense probably null 0.60
IGL01131:Slc15a3 APN 19 10857622 unclassified probably benign
IGL02098:Slc15a3 APN 19 10848678 missense probably damaging 1.00
IGL03078:Slc15a3 APN 19 10857245 missense probably damaging 0.99
IGL03197:Slc15a3 APN 19 10855079 critical splice donor site probably null
R0019:Slc15a3 UTSW 19 10856040 missense probably damaging 1.00
R0055:Slc15a3 UTSW 19 10843042 nonsense probably null
R0127:Slc15a3 UTSW 19 10855986 missense probably damaging 0.99
R0133:Slc15a3 UTSW 19 10843250 missense probably damaging 1.00
R1079:Slc15a3 UTSW 19 10855980 missense probably benign 0.02
R1595:Slc15a3 UTSW 19 10854311 missense probably benign
R1644:Slc15a3 UTSW 19 10857231 missense possibly damaging 0.79
R1912:Slc15a3 UTSW 19 10848613 missense probably damaging 1.00
R2074:Slc15a3 UTSW 19 10857299 missense probably damaging 1.00
R2397:Slc15a3 UTSW 19 10843043 missense probably benign
R4758:Slc15a3 UTSW 19 10854362 critical splice donor site probably null
R4948:Slc15a3 UTSW 19 10843046 missense probably benign 0.09
R5138:Slc15a3 UTSW 19 10856005 missense probably damaging 1.00
R5319:Slc15a3 UTSW 19 10855932 missense probably damaging 1.00
R5646:Slc15a3 UTSW 19 10843210 missense probably benign 0.19
R6145:Slc15a3 UTSW 19 10857251 missense probably damaging 1.00
R6606:Slc15a3 UTSW 19 10848682 missense possibly damaging 0.91
R9038:Slc15a3 UTSW 19 10843502 missense probably damaging 1.00
R9075:Slc15a3 UTSW 19 10848730 missense probably damaging 1.00
Z1176:Slc15a3 UTSW 19 10848558 missense probably null 1.00
Posted On 2015-04-16