Incidental Mutation 'R3155:Slc15a4'
ID 263457
Institutional Source Beutler Lab
Gene Symbol Slc15a4
Ensembl Gene ENSMUSG00000029416
Gene Name solute carrier family 15, member 4
Synonyms C130069N12Rik, PTR4, PHT1
MMRRC Submission 040606-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R3155 (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: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (39/39)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T C 1: 85,859,104 (GRCm39) probably benign Het
Aco1 T C 4: 40,182,915 (GRCm39) V487A probably damaging Het
Adh1 A G 3: 137,986,250 (GRCm39) E79G probably damaging Het
Aebp1 A G 11: 5,821,425 (GRCm39) N608S probably benign Het
Ahctf1 G A 1: 179,583,148 (GRCm39) R43C probably damaging Het
Ahnak A T 19: 8,987,541 (GRCm39) I2942L possibly damaging Het
Anxa9 A T 3: 95,209,716 (GRCm39) D134E probably benign Het
Ccdc14 A G 16: 34,544,222 (GRCm39) D860G probably damaging Het
Cdhr3 T A 12: 33,099,152 (GRCm39) I480F possibly damaging Het
Cldn34a C T X: 151,346,840 (GRCm39) H171Y probably benign Het
Cyp2d9 T A 15: 82,336,843 (GRCm39) probably null Het
Dmbt1 T A 7: 130,651,887 (GRCm39) Y376* probably null Het
Fancm T C 12: 65,163,195 (GRCm39) I1453T probably benign Het
Fbxw11 A G 11: 32,689,244 (GRCm39) I456V possibly damaging Het
Fut2 A T 7: 45,300,091 (GRCm39) L227Q probably damaging Het
Gbp5 T C 3: 142,208,888 (GRCm39) probably null Het
Glrp1 C A 1: 88,430,976 (GRCm39) Q131H unknown Het
Gm6871 T C 7: 41,223,079 (GRCm39) N3S probably benign Het
H2-Eb1 C A 17: 34,533,348 (GRCm39) T190K probably damaging Het
Kdr T A 5: 76,129,065 (GRCm39) I194F probably benign Het
Klhdc7a A G 4: 139,694,500 (GRCm39) V149A probably benign Het
Lrit3 A G 3: 129,585,044 (GRCm39) F238S probably benign Het
Map10 A T 8: 126,398,313 (GRCm39) I569F possibly damaging Het
Myh6 A G 14: 55,182,125 (GRCm39) I1761T probably damaging Het
Npc1l1 A C 11: 6,171,840 (GRCm39) D874E probably benign Het
Or4k15c T C 14: 50,321,982 (GRCm39) D52G probably benign Het
Or8c17 T A 9: 38,179,836 (GRCm39) M1K probably null Het
Pawr A G 10: 108,245,370 (GRCm39) T193A probably benign Het
Ppp2r3d T C 9: 101,089,559 (GRCm39) K255E possibly damaging Het
Rbp3 A T 14: 33,679,071 (GRCm39) K1006N probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rin2 A G 2: 145,702,771 (GRCm39) K489R probably benign Het
Rlf A G 4: 121,006,529 (GRCm39) V817A probably damaging Het
Rusc1 T C 3: 88,999,038 (GRCm39) D248G probably benign Het
Stk4 T A 2: 163,993,663 (GRCm39) M98K probably benign Het
Taf15 T A 11: 83,393,599 (GRCm39) H307Q probably benign Het
Urgcp A T 11: 5,666,327 (GRCm39) F670L probably damaging Het
Vmn2r76 T C 7: 85,874,959 (GRCm39) T673A probably damaging Het
Zfp324 G A 7: 12,702,817 (GRCm39) M60I 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
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
Predicted Primers PCR Primer
(F):5'- AGCTTCCAGGCACCCAAATG -3'
(R):5'- CAGAGCATTGTCACTAGGGGTG -3'

Sequencing Primer
(F):5'- TTCCAGGCACCCAAATGACAAAG -3'
(R):5'- TGTTTCCCAAAGTGAAGGCC -3'
Posted On 2015-02-05