Incidental Mutation 'IGL03197:Slc15a3'
ID412881
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 #IGL03197
Quality Score
Status
Chromosome19
Chromosomal Location10839727-10859362 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 10855079 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025645] [ENSMUST00000025646] [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
SMART Domains Protein: ENSMUSP00000025646
Gene: ENSMUSG00000024737

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 null
Transcript: ENSMUST00000025646
SMART Domains Protein: ENSMUSP00000025646
Gene: ENSMUSG00000024737

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 116,971,802 W189R probably damaging Het
Abcb7 A T X: 104,284,191 M704K possibly damaging Het
Anp32e A G 3: 95,937,052 D71G probably damaging Het
Asphd1 T C 7: 126,946,126 D353G probably damaging Het
Baz2b T C 2: 59,901,554 K2047E possibly damaging Het
Cyp2c39 G T 19: 39,566,917 V394F probably damaging Het
Ddx43 G A 9: 78,418,120 M482I probably benign Het
Dnah2 A T 11: 69,459,263 V2348E probably damaging Het
Fam135a A G 1: 24,044,182 F304L probably damaging Het
Gabra3 A G X: 72,540,128 I66T possibly damaging Het
Gm5861 T G 5: 11,183,113 N14K probably damaging Het
Gm8857 T A 5: 10,950,534 probably benign Het
Irf4 A T 13: 30,763,520 probably benign Het
Kif11 A G 19: 37,407,027 D578G probably benign Het
Lrig1 A G 6: 94,606,118 S1006P probably benign Het
Mfsd14a A C 3: 116,636,363 S307A probably benign Het
Mill1 A G 7: 18,264,665 T267A probably benign Het
Nfyc C A 4: 120,773,761 D62Y probably damaging Het
Nin T C 12: 70,026,810 T1190A probably benign Het
Nupl2 T C 5: 24,167,465 S84P probably damaging Het
Ociad1 T C 5: 73,294,332 S15P probably benign Het
Olfr1199 A T 2: 88,756,201 I158K probably damaging Het
Olfr822 A T 10: 130,074,679 I90F probably damaging Het
Olfr843 A G 9: 19,248,802 I199T probably benign Het
Pcdhb11 T A 18: 37,422,424 L269* probably null Het
Pigo A C 4: 43,022,103 M352R possibly damaging Het
Plch1 T C 3: 63,753,170 M343V probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Prkag1 A G 15: 98,815,177 probably benign Het
Rasa4 A G 5: 136,102,012 K379R probably damaging Het
Rraga G A 4: 86,576,276 A120T probably damaging Het
Serpina3a C T 12: 104,116,241 A91V probably damaging Het
Sik2 T C 9: 50,895,773 E779G probably damaging Het
Smc1b C T 15: 85,070,863 D1063N possibly damaging Het
Srsf12 G A 4: 33,231,040 G183E probably damaging Het
Taf8 A G 17: 47,498,202 S112P probably benign Het
Trhde A G 10: 114,413,308 L851P probably benign Het
Wapl G T 14: 34,745,631 V1182F possibly damaging Het
Zfp326 A G 5: 105,891,193 I231V probably benign 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
IGL02470:Slc15a3 APN 19 10853170 missense probably benign
IGL03078:Slc15a3 APN 19 10857245 missense probably damaging 0.99
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 On2016-08-02