Incidental Mutation 'R4359:Slc15a4'
ID 324796
Institutional Source Beutler Lab
Gene Symbol Slc15a4
Ensembl Gene ENSMUSG00000029416
Gene Name solute carrier family 15, member 4
Synonyms C130069N12Rik, PTR4, PHT1
MMRRC Submission 041670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R4359 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 127672728-127709961 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 127681600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000031367] [ENSMUST00000152727] [ENSMUST00000152727] [ENSMUST00000153832] [ENSMUST00000155321]
AlphaFold Q91W98
Predicted Effect probably null
Transcript: ENSMUST00000031367
SMART Domains Protein: ENSMUSP00000031367
Gene: ENSMUSG00000029416

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 null
Transcript: ENSMUST00000152727
SMART Domains Protein: ENSMUSP00000116529
Gene: ENSMUSG00000029416

DomainStartEndE-ValueType
Pfam:PTR2 1 81 3.9e-15 PFAM
Predicted Effect probably null
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 probably null
Transcript: ENSMUST00000198486
Predicted Effect probably null
Transcript: ENSMUST00000198486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198727
Meta Mutation Damage Score 0.9496 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,247,629 (GRCm39) V2459F probably benign Het
Acot1 T C 12: 84,061,314 (GRCm39) Y207H probably damaging Het
Anapc1 A G 2: 128,465,476 (GRCm39) V1668A possibly damaging Het
Atr T A 9: 95,833,589 (GRCm39) I2613N probably damaging Het
Baz2b A G 2: 59,731,957 (GRCm39) I2027T possibly damaging Het
C2cd3 T G 7: 100,090,296 (GRCm39) H466Q probably damaging Het
Cdc14b T A 13: 64,396,225 (GRCm39) I15F probably benign Het
Cep135 G T 5: 76,759,561 (GRCm39) K438N possibly damaging Het
Cnot1 T C 8: 96,466,476 (GRCm39) D1587G probably damaging Het
Cxcl16 C A 11: 70,349,631 (GRCm39) V65L possibly damaging Het
Dhx36 T A 3: 62,382,699 (GRCm39) T783S probably benign Het
Disp3 T C 4: 148,356,389 (GRCm39) N157S probably benign Het
Efcab3 G T 11: 104,624,547 (GRCm39) probably null Het
Fem1al A T 11: 29,774,669 (GRCm39) S263T probably benign Het
Gfod2 T C 8: 106,444,177 (GRCm39) N122S possibly damaging Het
Grin3b T A 10: 79,808,731 (GRCm39) D160E probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Htr1b C A 9: 81,514,404 (GRCm39) A68S probably benign Het
Ifit2 A T 19: 34,550,544 (GRCm39) D28V possibly damaging Het
Ifna15 G T 4: 88,476,079 (GRCm39) T135N probably benign Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
Klhl25 T C 7: 75,516,480 (GRCm39) V462A probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
L3mbtl3 A G 10: 26,203,639 (GRCm39) V397A unknown Het
Lpcat2 C A 8: 93,599,734 (GRCm39) P234Q probably benign Het
Lrp1b A C 2: 40,793,077 (GRCm39) C2532W probably damaging Het
Malt1 T C 18: 65,609,300 (GRCm39) V768A probably benign Het
Mindy3 A T 2: 12,401,020 (GRCm39) W233R probably damaging Het
Ncor1 T C 11: 62,249,736 (GRCm39) K1054R probably damaging Het
Nin T A 12: 70,061,712 (GRCm39) T2051S probably benign Het
Or10j5 C A 1: 172,784,647 (GRCm39) A95E probably benign Het
Or51ac3 A G 7: 103,213,742 (GRCm39) F248S probably benign Het
Pcsk1 T C 13: 75,260,838 (GRCm39) S354P possibly damaging Het
Pilra T C 5: 137,829,576 (GRCm39) T160A probably benign Het
Plekha5 G C 6: 140,537,414 (GRCm39) E540D probably benign Het
Prps2 T A X: 166,146,545 (GRCm39) K176* probably null Het
Rasgrf2 C A 13: 92,038,796 (GRCm39) D1017Y probably damaging Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Srd5a3 T A 5: 76,295,547 (GRCm39) F79Y probably damaging Het
Stxbp4 C T 11: 90,385,470 (GRCm39) W506* probably null Het
Timeless C A 10: 128,083,211 (GRCm39) Q653K probably benign Het
Trio G A 15: 27,749,883 (GRCm39) Q1129* probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zzef1 T A 11: 72,714,334 (GRCm39) S275T probably damaging 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
IGL01805:Slc15a4 APN 5 127,685,900 (GRCm39) missense possibly damaging 0.91
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
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
Predicted Primers PCR Primer
(F):5'- GAGAAAAGCTTCCAGGCACC -3'
(R):5'- AGCATTGTCACTAGGGGTGG -3'

Sequencing Primer
(F):5'- GCTTCCAGGCACCCAAATG -3'
(R):5'- TGTTTCCCAAAGTGAAGGCC -3'
Posted On 2015-07-06