Incidental Mutation 'IGL02958:Slc15a4'
ID365228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc15a4
Ensembl Gene ENSMUSG00000029416
Gene Namesolute carrier family 15, member 4
SynonymsPHT1, C130069N12Rik, PTR4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02958
Quality Score
Status
Chromosome5
Chromosomal Location127595664-127632897 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 127604665 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 296 (L296Q)
Ref Sequence ENSEMBL: ENSMUSP00000031367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031367] [ENSMUST00000152727] [ENSMUST00000153832] [ENSMUST00000155321]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031367
AA Change: L296Q

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031367
Gene: ENSMUSG00000029416
AA Change: L296Q

DomainStartEndE-ValueType
low complexity region 10 29 N/A INTRINSIC
Pfam:MFS_1 33 505 7.8e-13 PFAM
Pfam:PTR2 96 519 3.6e-127 PFAM
transmembrane domain 533 555 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124569
SMART Domains Protein: ENSMUSP00000121595
Gene: ENSMUSG00000029416

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:PTR2 49 242 8.1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144603
SMART Domains Protein: ENSMUSP00000116420
Gene: ENSMUSG00000029416

DomainStartEndE-ValueType
Pfam:PTR2 7 127 2.2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152727
SMART Domains Protein: ENSMUSP00000116529
Gene: ENSMUSG00000029416

DomainStartEndE-ValueType
Pfam:PTR2 1 81 3.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153832
SMART Domains Protein: ENSMUSP00000123116
Gene: ENSMUSG00000029416

DomainStartEndE-ValueType
low complexity region 10 29 N/A INTRINSIC
low complexity region 32 43 N/A INTRINSIC
transmembrane domain 67 89 N/A INTRINSIC
Pfam:PTR2 96 292 5e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155321
SMART Domains Protein: ENSMUSP00000117258
Gene: ENSMUSG00000029416

DomainStartEndE-ValueType
Pfam:PTR2 7 105 1e-31 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000198486
AA Change: L5Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200212
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation display abrogation of both Toll-like receptor (TLR)-induced type I IFN and proinflammatory cytokine production by plasmacytoid dendritic cells. Conventional dendritic cells respond normally to TLR ligands. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G T 17: 45,518,172 V755L probably benign Het
Abhd15 T C 11: 77,515,965 V256A possibly damaging Het
Agtr1b A T 3: 20,316,094 V116E possibly damaging Het
Ahi1 A T 10: 20,963,799 D203V probably damaging Het
Aplp2 G T 9: 31,164,676 probably benign Het
Arid4a T C 12: 71,097,563 S1249P probably benign Het
Asz1 T A 6: 18,073,814 K298M possibly damaging Het
C4bp A G 1: 130,636,795 I384T probably damaging Het
Cacna1e C A 1: 154,465,741 A1236S probably damaging Het
Cdh13 T C 8: 119,312,721 I634T possibly damaging Het
Cemip A T 7: 83,975,055 F524L probably damaging Het
Dnah7c G A 1: 46,657,111 R2051H probably damaging Het
Dnajc17 T C 2: 119,185,762 K77E probably benign Het
Efhc2 C T X: 17,161,246 probably benign Het
Ergic2 A T 6: 148,181,943 *50K probably null Het
Fam83g C T 11: 61,707,722 P812S probably damaging Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Gm7102 G T 19: 61,175,680 Q106K possibly damaging Het
Gm9047 G A 6: 29,471,626 G34R probably damaging Het
Itih3 T C 14: 30,913,182 T73A probably benign Het
Kcnj1 A G 9: 32,396,555 S72G probably damaging Het
Kcnn4 T C 7: 24,374,745 V78A probably benign Het
Lrp1b T A 2: 41,302,916 D1353V probably damaging Het
Lrrc2 T A 9: 110,962,673 probably null Het
Ndufs8 T C 19: 3,911,232 E45G probably benign Het
Nell1 G A 7: 50,220,337 probably null Het
Nxt1 A G 2: 148,675,772 probably benign Het
Olfr1039 T A 2: 86,131,007 I219F probably benign Het
Olfr1390 A G 11: 49,341,300 Y256C probably benign Het
Pdzd8 A T 19: 59,300,372 C865* probably null Het
Pop1 G T 15: 34,530,363 C969F probably damaging Het
Rc3h2 A C 2: 37,414,700 I16S probably damaging Het
Shank1 T C 7: 44,354,473 V1863A possibly damaging Het
Ssr4 T C X: 73,787,250 probably benign Het
Supt20 T A 3: 54,713,723 probably benign Het
Ttc8 A T 12: 98,964,544 K282N probably benign Het
Usp40 A T 1: 87,978,485 V676E probably damaging Het
Vmn1r43 T C 6: 89,870,049 I152V probably benign Het
Vmn2r61 A T 7: 42,299,937 I594F probably benign Het
Vps53 A C 11: 76,117,711 I261S probably damaging Het
Wdr19 T A 5: 65,212,807 probably null Het
Zc3hav1 T A 6: 38,332,984 D301V probably damaging Het
Other mutations in Slc15a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Slc15a4 APN 5 127601960 missense probably benign 0.13
IGL01543:Slc15a4 APN 5 127603766 missense probably benign 0.12
IGL01805:Slc15a4 APN 5 127608836 missense possibly damaging 0.91
IGL03367:Slc15a4 APN 5 127601941 missense probably damaging 1.00
bondage UTSW 5 127604536 critical splice donor site probably null
feeble UTSW 5 127608770 unclassified probably benign
R0018:Slc15a4 UTSW 5 127602010 missense probably damaging 1.00
R0018:Slc15a4 UTSW 5 127602010 missense probably damaging 1.00
R0838:Slc15a4 UTSW 5 127617003 missense possibly damaging 0.53
R1544:Slc15a4 UTSW 5 127603768 missense probably benign 0.01
R1662:Slc15a4 UTSW 5 127608979 missense probably damaging 1.00
R2504:Slc15a4 UTSW 5 127617239 missense possibly damaging 0.92
R2843:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R2845:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R2846:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R2900:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R2971:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R3018:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R3020:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R3021:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R3027:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R3053:Slc15a4 UTSW 5 127596682 missense possibly damaging 0.83
R3155:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R3432:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R4356:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R4357:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R4359:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R4448:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R4449:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R4450:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R4514:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R4544:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R4546:Slc15a4 UTSW 5 127604536 critical splice donor site probably null
R4952:Slc15a4 UTSW 5 127603837 missense probably damaging 1.00
R5278:Slc15a4 UTSW 5 127616969 missense probably damaging 0.99
R6393:Slc15a4 UTSW 5 127616886 missense probably benign 0.13
R6527:Slc15a4 UTSW 5 127596709 missense probably damaging 1.00
R7409:Slc15a4 UTSW 5 127604678 missense probably benign 0.04
R8223:Slc15a4 UTSW 5 127609016 missense possibly damaging 0.65
Z1177:Slc15a4 UTSW 5 127600524 missense probably damaging 1.00
Posted On2015-12-18