Incidental Mutation 'IGL01805:Slc15a4'
ID 155651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc15a4
Ensembl Gene ENSMUSG00000029416
Gene Name solute carrier family 15, member 4
Synonyms C130069N12Rik, PTR4, PHT1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL01805
Quality Score
Status
Chromosome 5
Chromosomal Location 127672728-127709961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127685900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 261 (T261A)
Ref Sequence ENSEMBL: ENSMUSP00000123116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031367] [ENSMUST00000152727] [ENSMUST00000153832] [ENSMUST00000155321]
AlphaFold Q91W98
Predicted Effect probably benign
Transcript: ENSMUST00000031367
AA Change: T261A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031367
Gene: ENSMUSG00000029416
AA Change: T261A

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 unknown
Transcript: ENSMUST00000124569
AA Change: T213A
SMART Domains Protein: ENSMUSP00000121595
Gene: ENSMUSG00000029416
AA Change: T213A

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:PTR2 49 242 8.1e-56 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000144603
AA Change: T91A
SMART Domains Protein: ENSMUSP00000116420
Gene: ENSMUSG00000029416
AA Change: T91A

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 possibly damaging
Transcript: ENSMUST00000153832
AA Change: T261A

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123116
Gene: ENSMUSG00000029416
AA Change: T261A

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
AA Change: T92A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117258
Gene: ENSMUSG00000029416
AA Change: T92A

DomainStartEndE-ValueType
Pfam:PTR2 7 105 1e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199810
Predicted Effect probably benign
Transcript: ENSMUST00000198486
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,964,677 (GRCm39) D17G possibly damaging Het
Adam28 G T 14: 68,879,540 (GRCm39) S169R probably benign Het
Aox1 T C 1: 58,120,672 (GRCm39) M855T possibly damaging Het
Apc C A 18: 34,451,271 (GRCm39) N2688K probably benign Het
Arhgap23 T A 11: 97,383,428 (GRCm39) probably benign Het
Bpifa6 A G 2: 153,826,832 (GRCm39) T66A probably benign Het
C1qtnf1 T A 11: 118,338,993 (GRCm39) L221Q probably damaging Het
Ccdc175 T A 12: 72,176,003 (GRCm39) probably benign Het
Ccl1 C A 11: 82,068,958 (GRCm39) M26I possibly damaging Het
Dnah10 T A 5: 124,860,985 (GRCm39) F2123I probably damaging Het
Fancm T C 12: 65,160,635 (GRCm39) probably null Het
Fstl4 C A 11: 53,077,184 (GRCm39) A647E probably damaging Het
Hmgb4 G T 4: 128,154,015 (GRCm39) probably benign Het
Hr A T 14: 70,802,737 (GRCm39) probably benign Het
Ilrun C T 17: 27,986,880 (GRCm39) probably benign Het
Kcna4 G T 2: 107,126,843 (GRCm39) V526L probably damaging Het
Mas1 T C 17: 13,061,117 (GRCm39) Y102C probably damaging Het
Mucl3 T A 17: 35,948,535 (GRCm39) T355S possibly damaging Het
Mul1 C T 4: 138,166,974 (GRCm39) P343S possibly damaging Het
Obscn T C 11: 59,023,422 (GRCm39) S652G probably damaging Het
Or8g55 T C 9: 39,785,075 (GRCm39) F168S probably damaging Het
Pjvk A T 2: 76,487,858 (GRCm39) N250I probably benign Het
Pkd2 T C 5: 104,630,959 (GRCm39) I461T probably benign Het
Psen2 T C 1: 180,057,403 (GRCm39) probably null Het
Ralb T C 1: 119,403,725 (GRCm39) E81G probably benign Het
Vmn2r77 G A 7: 86,460,395 (GRCm39) V574M probably benign Het
Xrn2 A G 2: 146,870,063 (GRCm39) I251V probably damaging Het
Zfp974 G A 7: 27,611,689 (GRCm39) probably benign Het
Other mutations in Slc15a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Slc15a4 APN 5 127,679,024 (GRCm39) missense probably benign 0.13
IGL01543:Slc15a4 APN 5 127,680,830 (GRCm39) missense probably benign 0.12
IGL02958:Slc15a4 APN 5 127,681,729 (GRCm39) missense possibly damaging 0.93
IGL03367:Slc15a4 APN 5 127,679,005 (GRCm39) missense probably damaging 1.00
bondage UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
feeble UTSW 5 127,685,834 (GRCm39) unclassified probably benign
R0018:Slc15a4 UTSW 5 127,679,074 (GRCm39) missense probably damaging 1.00
R0018:Slc15a4 UTSW 5 127,679,074 (GRCm39) missense probably damaging 1.00
R0838:Slc15a4 UTSW 5 127,694,067 (GRCm39) missense possibly damaging 0.53
R1544:Slc15a4 UTSW 5 127,680,832 (GRCm39) missense probably benign 0.01
R1662:Slc15a4 UTSW 5 127,686,043 (GRCm39) missense probably damaging 1.00
R2504:Slc15a4 UTSW 5 127,694,303 (GRCm39) missense possibly damaging 0.92
R2843:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R2845:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R2846:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R2900:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R2971:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R3018:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R3020:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R3021:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R3027:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R3053:Slc15a4 UTSW 5 127,673,746 (GRCm39) missense possibly damaging 0.83
R3155:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R3432:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4356:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4357:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4359:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4448:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4449:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4450:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4514:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4544:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4546:Slc15a4 UTSW 5 127,681,600 (GRCm39) critical splice donor site probably null
R4952:Slc15a4 UTSW 5 127,680,901 (GRCm39) missense probably damaging 1.00
R5278:Slc15a4 UTSW 5 127,694,033 (GRCm39) missense probably damaging 0.99
R6393:Slc15a4 UTSW 5 127,693,950 (GRCm39) missense probably benign 0.13
R6527:Slc15a4 UTSW 5 127,673,773 (GRCm39) missense probably damaging 1.00
R7409:Slc15a4 UTSW 5 127,681,742 (GRCm39) missense probably benign 0.04
R8223:Slc15a4 UTSW 5 127,686,080 (GRCm39) missense possibly damaging 0.65
R8708:Slc15a4 UTSW 5 127,673,715 (GRCm39) missense probably benign 0.00
R8848:Slc15a4 UTSW 5 127,679,021 (GRCm39) missense probably benign 0.22
R9301:Slc15a4 UTSW 5 127,673,812 (GRCm39) missense probably benign 0.11
R9396:Slc15a4 UTSW 5 127,694,463 (GRCm39) intron probably benign
R9695:Slc15a4 UTSW 5 127,694,400 (GRCm39) missense possibly damaging 0.78
Z1177:Slc15a4 UTSW 5 127,677,588 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04