Incidental Mutation 'R4450:Slc15a4'
ID 328917
Institutional Source Beutler Lab
Gene Symbol Slc15a4
Ensembl Gene ENSMUSG00000029416
Gene Name solute carrier family 15, member 4
Synonyms C130069N12Rik, PTR4, PHT1
MMRRC Submission 041711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R4450 (G1)
Quality Score 225
Status 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: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (43/44)
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
3930402G23Rik T A 8: 10,976,129 (GRCm39) noncoding transcript Het
Acsl6 A G 11: 54,219,229 (GRCm39) D278G probably damaging Het
Adamdec1 C T 14: 68,810,568 (GRCm39) R196Q probably benign Het
Akap13 T A 7: 75,392,508 (GRCm39) F2450L probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Angel1 A T 12: 86,768,698 (GRCm39) Y262N probably damaging Het
Arhgef18 A G 8: 3,487,097 (GRCm39) E272G probably damaging Het
Bpifb6 A G 2: 153,748,688 (GRCm39) E228G possibly damaging Het
Brca2 T G 5: 150,459,518 (GRCm39) D264E probably damaging Het
Cdca4 T C 12: 112,785,278 (GRCm39) N150S probably benign Het
Cep162 T C 9: 87,107,861 (GRCm39) S510G probably damaging Het
Cldn12 T C 5: 5,558,398 (GRCm39) T10A probably damaging Het
Clip2 C T 5: 134,531,807 (GRCm39) G631D possibly damaging Het
Col19a1 T A 1: 24,361,116 (GRCm39) T625S probably damaging Het
Col6a5 C T 9: 105,781,720 (GRCm39) G1635D unknown Het
Dcp1b A G 6: 119,183,437 (GRCm39) T175A probably benign Het
Eln C T 5: 134,754,635 (GRCm39) probably benign Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gm9894 T A 13: 67,913,199 (GRCm39) noncoding transcript Het
Herc2 T C 7: 55,877,640 (GRCm39) L4569P probably damaging Het
Iqcm T C 8: 76,356,394 (GRCm39) S176P probably damaging Het
Klhl42 G A 6: 146,993,169 (GRCm39) G47D probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lzts2 A T 19: 45,012,032 (GRCm39) K154* probably null Het
Map4k3 C T 17: 80,911,411 (GRCm39) probably null Het
Mlc1 A G 15: 88,847,693 (GRCm39) F285S probably benign Het
Myo5a T A 9: 75,074,458 (GRCm39) M789K probably benign Het
Nbeal1 T A 1: 60,306,933 (GRCm39) S319T probably damaging Het
Nsun4 A T 4: 115,908,453 (GRCm39) Y702* probably null Het
Or8b52 A T 9: 38,577,050 (GRCm39) V30E probably benign Het
Or8g34 G A 9: 39,373,328 (GRCm39) M200I probably benign Het
Osbpl5 T A 7: 143,248,643 (GRCm39) T640S probably benign Het
Plaat1 C T 16: 29,046,976 (GRCm39) T165M possibly damaging Het
Rangrf A T 11: 68,866,010 (GRCm39) probably benign Het
Rnpc3 T C 3: 113,404,786 (GRCm39) probably benign Het
Ros1 C T 10: 51,954,038 (GRCm39) G1867D probably damaging Het
Slc11a1 C A 1: 74,424,694 (GRCm39) probably benign Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Syt6 A G 3: 103,492,961 (GRCm39) H156R probably benign Het
Tln2 C T 9: 67,251,347 (GRCm39) probably null Het
Trim58 T C 11: 58,542,191 (GRCm39) W384R probably benign Het
Wwc2 A G 8: 48,321,702 (GRCm39) Y471H unknown 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
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
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'- AGCTTCCAGGCACCCAAATG -3'
(R):5'- TTGTCACTAGGGGTGGAAGTAAAC -3'

Sequencing Primer
(F):5'- TTCCAGGCACCCAAATGACAAAG -3'
(R):5'- TGTTTCCCAAAGTGAAGGCC -3'
Posted On 2015-07-21