Incidental Mutation 'IGL01608:Peli3'
ID 91876
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: 0.101) question?
Stock # IGL01608
Quality Score
Status
Chromosome 19
Chromosomal Location 4979745-4993155 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4982855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 270 (I270T)
Ref Sequence ENSEMBL: ENSMUSP00000025834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025834] [ENSMUST00000025851] [ENSMUST00000120475] [ENSMUST00000133254]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025834
AA Change: I270T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025834
Gene: ENSMUSG00000024901
AA Change: I270T

DomainStartEndE-ValueType
Pfam:Pellino 35 445 3.8e-211 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025851
SMART Domains Protein: ENSMUSP00000025851
Gene: ENSMUSG00000063904

DomainStartEndE-ValueType
Pfam:Peptidase_M49 143 704 1.3e-236 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120475
AA Change: I236T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113193
Gene: ENSMUSG00000024901
AA Change: I236T

DomainStartEndE-ValueType
Pfam:Pellino 30 95 1.8e-24 PFAM
Pfam:Pellino 92 411 5.3e-175 PFAM
Predicted Effect probably benign
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,038,158 (GRCm39) L2068Q probably damaging Het
Abca12 G T 1: 71,298,601 (GRCm39) D2340E probably damaging Het
Adcy5 A G 16: 35,092,535 (GRCm39) Y632C probably damaging Het
Adgrb3 A G 1: 25,592,855 (GRCm39) S311P probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Atf2 G T 2: 73,649,422 (GRCm39) H396Q probably damaging Het
Atp8a1 G A 5: 67,970,479 (GRCm39) R74* probably null Het
Brpf3 T C 17: 29,040,491 (GRCm39) S971P probably benign Het
Btn1a1 T C 13: 23,645,778 (GRCm39) E197G probably benign Het
Ccdc136 C T 6: 29,406,113 (GRCm39) A87V possibly damaging Het
Celf4 A G 18: 25,630,560 (GRCm39) L376P probably damaging Het
Chrm3 G A 13: 9,928,634 (GRCm39) A134V possibly damaging Het
Col19a1 G A 1: 24,321,626 (GRCm39) R961C probably damaging Het
Cr2 A G 1: 194,837,528 (GRCm39) V1190A possibly damaging Het
Dop1a T A 9: 86,389,614 (GRCm39) S515T probably benign Het
Eprs1 T A 1: 185,117,311 (GRCm39) probably benign Het
Fbn2 G T 18: 58,186,776 (GRCm39) Y1708* probably null Het
Glt1d1 A G 5: 127,741,746 (GRCm39) N148S possibly damaging Het
Gm20425 T A 9: 103,068,293 (GRCm39) I44F probably damaging Het
Gpr22 T A 12: 31,758,779 (GRCm39) K411* probably null Het
Ipo11 A G 13: 106,971,002 (GRCm39) probably benign Het
Klri1 T A 6: 129,675,130 (GRCm39) N210I possibly damaging Het
Kmt2c C T 5: 25,559,809 (GRCm39) V950M probably damaging Het
Knop1 T C 7: 118,445,019 (GRCm39) K315R probably benign Het
Krt90 A G 15: 101,471,064 (GRCm39) I66T probably benign Het
Lrrc32 T A 7: 98,148,564 (GRCm39) V448D probably benign Het
Met T C 6: 17,558,729 (GRCm39) V1119A probably damaging Het
Minar1 T C 9: 89,478,551 (GRCm39) T832A probably benign Het
Mipep T A 14: 61,039,679 (GRCm39) I236N possibly damaging Het
Mrpl45 A G 11: 97,207,747 (GRCm39) T81A probably benign Het
Mtbp G T 15: 55,421,085 (GRCm39) E24* probably null Het
Muc5b C T 7: 141,400,174 (GRCm39) T476I unknown Het
Mup6 C T 4: 60,006,021 (GRCm39) T163I probably benign Het
Myo1g T A 11: 6,466,780 (GRCm39) I278F possibly damaging Het
Myo9a A T 9: 59,778,119 (GRCm39) K1292* probably null Het
Nbeal1 T A 1: 60,281,694 (GRCm39) probably benign Het
Nck1 C A 9: 100,379,440 (GRCm39) R270S probably benign Het
Neb T C 2: 52,060,548 (GRCm39) E6035G probably damaging Het
Nlrp4f A C 13: 65,343,357 (GRCm39) L96* probably null Het
Or11g1 A T 14: 50,651,910 (GRCm39) H303L probably benign Het
Or4a77 A T 2: 89,486,835 (GRCm39) probably benign Het
Or51l14 A T 7: 103,101,011 (GRCm39) I156F probably benign Het
Or5t18 A C 2: 86,636,769 (GRCm39) Y191* probably null Het
Padi2 A G 4: 140,659,541 (GRCm39) E282G probably damaging Het
Pcdhb4 A G 18: 37,441,803 (GRCm39) D371G probably damaging Het
Pcdhb8 A G 18: 37,489,978 (GRCm39) D552G probably damaging Het
Phf20 A G 2: 156,118,516 (GRCm39) M407V probably benign Het
Ppm1h C T 10: 122,777,185 (GRCm39) R103* probably null Het
Rangap1 C T 15: 81,593,705 (GRCm39) V457M probably benign Het
Scube2 A G 7: 109,442,461 (GRCm39) V257A probably benign Het
Shc1 C A 3: 89,332,156 (GRCm39) Q204K probably damaging Het
Slc6a4 T A 11: 76,917,961 (GRCm39) Y568N probably damaging Het
Srgap3 A G 6: 112,923,439 (GRCm39) F7L probably benign Het
St6galnac4 T A 2: 32,484,098 (GRCm39) C99S probably damaging Het
Strc T C 2: 121,206,075 (GRCm39) D779G probably benign Het
Supt6 A T 11: 78,116,309 (GRCm39) Y685N probably damaging Het
Traf3ip3 T C 1: 192,869,418 (GRCm39) T256A probably benign Het
Vmn1r74 A T 7: 11,581,560 (GRCm39) I287F probably damaging Het
Zmym2 C A 14: 57,185,472 (GRCm39) Q1035K possibly damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Peli3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Peli3 APN 19 4,985,086 (GRCm39) missense probably damaging 0.99
IGL03164:Peli3 APN 19 4,986,144 (GRCm39) critical splice donor site probably null
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 2013-12-09