Incidental Mutation 'IGL00843:Slc15a3'
ID14044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc15a3
Ensembl Gene ENSMUSG00000024737
Gene Namesolute carrier family 15, member 3
SynonymscI-1, Ci1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00843
Quality Score
Status
Chromosome19
Chromosomal Location10839727-10859362 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 10853263 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 326 (M326K)
Ref Sequence ENSEMBL: ENSMUSP00000025646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025645] [ENSMUST00000025646] [ENSMUST00000120524]
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 null
Transcript: ENSMUST00000025646
AA Change: M326K

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025646
Gene: ENSMUSG00000024737
AA Change: M326K

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bglap A G 3: 88,384,350 probably null Het
Clcn2 T C 16: 20,703,641 T772A probably benign Het
Cldn18 A T 9: 99,698,821 F125I probably benign Het
Ehhadh A G 16: 21,762,629 S538P possibly damaging Het
Ets2 T G 16: 95,709,793 F32V probably benign Het
F5 G A 1: 164,211,791 R1990Q probably benign Het
Fetub A G 16: 22,929,629 probably benign Het
Hecw1 C T 13: 14,247,573 E983K probably benign Het
Hemgn A G 4: 46,396,240 M332T probably benign Het
Hmcn1 A G 1: 150,610,713 I4314T possibly damaging Het
Impad1 T C 4: 4,776,308 probably benign Het
Lonrf2 C A 1: 38,812,535 probably benign Het
Lrrc9 T C 12: 72,463,417 I430T possibly damaging Het
Lrrk2 T C 15: 91,757,058 V1606A possibly damaging Het
Oog2 G T 4: 144,195,172 L217F probably damaging Het
Plxnc1 T C 10: 94,847,549 H791R probably benign Het
Prdm2 G A 4: 143,134,314 S802L probably damaging Het
Prss32 T A 17: 23,857,362 L233Q probably damaging Het
Rapgef6 T A 11: 54,691,273 V1337E probably benign Het
Slc25a54 A T 3: 109,112,860 T397S possibly damaging Het
Slfn3 C T 11: 83,213,431 T376M probably damaging Het
Stradb T A 1: 58,994,409 D410E probably benign Het
Tdh T C 14: 63,495,764 T178A probably damaging Het
Tspan12 T A 6: 21,851,082 probably benign Het
Ube2b A T 11: 51,995,375 D50E probably benign Het
Zranb1 A C 7: 132,949,893 H117P probably benign Het
Other mutations in Slc15a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Slc15a3 APN 19 10857622 unclassified probably benign
IGL02098:Slc15a3 APN 19 10848678 missense probably damaging 1.00
IGL02470:Slc15a3 APN 19 10853170 missense probably benign
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
Z1176:Slc15a3 UTSW 19 10848558 missense probably null 1.00
Posted On2012-12-06