Incidental Mutation 'IGL03164:Peli3'
ID 411574
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Peli3
Ensembl Gene ENSMUSG00000024901
Gene Name pellino 3
Synonyms 6030441F14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL03164
Quality Score
Status
Chromosome 19
Chromosomal Location 4979745-4993155 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 4986144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025834] [ENSMUST00000120475] [ENSMUST00000133254]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000025834
SMART Domains Protein: ENSMUSP00000025834
Gene: ENSMUSG00000024901

DomainStartEndE-ValueType
Pfam:Pellino 35 445 3.8e-211 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120475
SMART Domains Protein: ENSMUSP00000113193
Gene: ENSMUSG00000024901

DomainStartEndE-ValueType
Pfam:Pellino 30 95 1.8e-24 PFAM
Pfam:Pellino 92 411 5.3e-175 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133254
SMART Domains Protein: ENSMUSP00000118173
Gene: ENSMUSG00000024901

DomainStartEndE-ValueType
Pfam:Pellino 30 155 3.5e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139436
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146289
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a scaffold protein and an intermediate signaling protein in the innate immune response pathway. The encoded protein helps transmit the immune response signal from Toll-like receptors to IRAK1/TRAF6 complexes. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a null mutation display decreased susceptibility to viral infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,947,070 (GRCm39) D256G probably damaging Het
Abcb11 A T 2: 69,122,343 (GRCm39) L380* probably null Het
Aco1 A T 4: 40,167,116 (GRCm39) N110I probably benign Het
Adamts9 T C 6: 92,866,918 (GRCm39) D126G probably damaging Het
Anks1b T G 10: 89,878,554 (GRCm39) V121G probably damaging Het
Ap1s3 A G 1: 79,602,887 (GRCm39) L40P probably damaging Het
Cd19 C A 7: 126,012,681 (GRCm39) M237I possibly damaging Het
Chil6 T C 3: 106,301,714 (GRCm39) T129A probably benign Het
Chtf18 A G 17: 25,945,816 (GRCm39) M94T probably benign Het
Clstn2 G T 9: 97,681,462 (GRCm39) D59E possibly damaging Het
Cplx3 T C 9: 57,517,278 (GRCm39) T369A probably damaging Het
Ctnnbl1 A C 2: 157,659,681 (GRCm39) M253L probably benign Het
Erg T C 16: 95,210,730 (GRCm39) T41A possibly damaging Het
Gjd3 T A 11: 102,691,547 (GRCm39) N152I possibly damaging Het
Ints1 A G 5: 139,738,490 (GRCm39) L2084P probably damaging Het
Isoc1 C T 18: 58,806,404 (GRCm39) S238L probably damaging Het
Kdm5a T A 6: 120,415,980 (GRCm39) D1633E probably damaging Het
Krt76 T C 15: 101,795,886 (GRCm39) D428G possibly damaging Het
Lrp2 G T 2: 69,295,043 (GRCm39) T3425K probably damaging Het
Lta4h T C 10: 93,306,659 (GRCm39) probably benign Het
Nap1l4 C T 7: 143,091,953 (GRCm39) probably null Het
Nlrp5 T A 7: 23,117,798 (GRCm39) Y507* probably null Het
Nps T C 7: 134,874,039 (GRCm39) S53P probably damaging Het
Oprk1 A T 1: 5,669,087 (GRCm39) I178F probably damaging Het
Or2a12 C T 6: 42,905,064 (GRCm39) R300* probably null Het
Or5p1 T C 7: 107,916,901 (GRCm39) S267P probably damaging Het
Osgin2 G T 4: 16,001,938 (GRCm39) S204R probably benign Het
Otop1 G T 5: 38,445,306 (GRCm39) G155* probably null Het
Pex7 T A 10: 19,770,461 (GRCm39) probably benign Het
Pfkm T C 15: 98,029,843 (GRCm39) L749P probably damaging Het
Pwp1 T A 10: 85,714,367 (GRCm39) F103Y probably benign Het
Rhod T C 19: 4,482,829 (GRCm39) K63E possibly damaging Het
Rtl1 T C 12: 109,559,367 (GRCm39) E824G probably damaging Het
Sema4d A G 13: 51,862,958 (GRCm39) F467L possibly damaging Het
Septin10 T C 10: 59,016,921 (GRCm39) E201G probably damaging Het
Slc37a3 G A 6: 39,322,237 (GRCm39) T389I probably benign Het
Slco2b1 C T 7: 99,334,743 (GRCm39) A243T probably damaging Het
Sorbs2 A G 8: 46,235,911 (GRCm39) T187A probably benign Het
Supt20 T A 3: 54,620,609 (GRCm39) D389E probably benign Het
Tchh A G 3: 93,352,699 (GRCm39) D713G unknown Het
Trappc10 T C 10: 78,056,076 (GRCm39) R209G probably damaging Het
Unc119 A G 11: 78,239,002 (GRCm39) D176G probably damaging Het
Usb1 G A 8: 96,060,112 (GRCm39) R21Q probably damaging Het
Other mutations in Peli3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Peli3 APN 19 4,985,086 (GRCm39) missense probably damaging 0.99
IGL01608:Peli3 APN 19 4,982,855 (GRCm39) missense probably damaging 0.99
R0540:Peli3 UTSW 19 4,991,939 (GRCm39) start codon destroyed probably null 0.88
R0633:Peli3 UTSW 19 4,991,810 (GRCm39) missense probably damaging 1.00
R4241:Peli3 UTSW 19 4,982,426 (GRCm39) missense probably damaging 0.99
R4578:Peli3 UTSW 19 4,984,486 (GRCm39) missense probably benign 0.00
R4817:Peli3 UTSW 19 4,982,594 (GRCm39) missense probably damaging 1.00
R7360:Peli3 UTSW 19 4,985,103 (GRCm39) missense possibly damaging 0.95
R7718:Peli3 UTSW 19 4,984,584 (GRCm39) critical splice acceptor site probably null
R8553:Peli3 UTSW 19 4,984,960 (GRCm39) missense probably damaging 0.99
R8684:Peli3 UTSW 19 4,985,022 (GRCm39) missense probably damaging 1.00
R8869:Peli3 UTSW 19 4,982,541 (GRCm39) missense probably damaging 1.00
R9259:Peli3 UTSW 19 4,984,486 (GRCm39) missense probably benign 0.00
R9292:Peli3 UTSW 19 4,988,117 (GRCm39) missense possibly damaging 0.82
R9765:Peli3 UTSW 19 4,991,850 (GRCm39) nonsense probably null
Z1176:Peli3 UTSW 19 4,984,995 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02