Incidental Mutation 'IGL03119:Peli1'
ID 409928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Peli1
Ensembl Gene ENSMUSG00000020134
Gene Name pellino 1
Synonyms D11Ertd676e, A930031K15Rik, 2810468L03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03119
Quality Score
Status
Chromosome 11
Chromosomal Location 21041291-21100323 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 21090560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093290] [ENSMUST00000101477]
AlphaFold Q8C669
Predicted Effect probably benign
Transcript: ENSMUST00000093290
SMART Domains Protein: ENSMUSP00000090979
Gene: ENSMUSG00000020134

DomainStartEndE-ValueType
Pfam:Pellino 8 418 5.4e-227 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101477
SMART Domains Protein: ENSMUSP00000099018
Gene: ENSMUSG00000020134

DomainStartEndE-ValueType
Pfam:Pellino 3 418 6.5e-241 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149675
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156122
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced proinflammatory cytokine production, B cell proliferation, and mortality following treatment with LPS or pIpC. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,764,887 (GRCm39) T626A probably benign Het
Adcy1 C T 11: 7,059,051 (GRCm39) T319I probably damaging Het
Adgrv1 A G 13: 81,530,492 (GRCm39) S5861P probably damaging Het
Adgrv1 A C 13: 81,581,819 (GRCm39) C4742G probably benign Het
Arid5b A T 10: 68,079,057 (GRCm39) D93E probably damaging Het
Atp6v1h A G 1: 5,165,892 (GRCm39) T121A probably benign Het
Atxn7 C T 14: 14,100,734 (GRCm38) L807F probably damaging Het
Cep104 A C 4: 154,066,181 (GRCm39) K126N probably damaging Het
Dcaf6 T C 1: 165,167,545 (GRCm39) E708G probably damaging Het
Dst A G 1: 34,200,143 (GRCm39) Y107C probably damaging Het
E2f3 A G 13: 30,169,348 (GRCm39) S102P probably benign Het
Eif3e A C 15: 43,129,000 (GRCm39) S207A probably benign Het
Etl4 A G 2: 20,718,198 (GRCm39) Y313C probably damaging Het
Fyttd1 T C 16: 32,721,065 (GRCm39) V121A probably benign Het
Gstk1 T C 6: 42,226,833 (GRCm39) S200P probably damaging Het
Ifrd1 A T 12: 40,262,333 (GRCm39) F244L probably null Het
Ints7 T C 1: 191,342,477 (GRCm39) V491A probably damaging Het
Kcnd2 G T 6: 21,216,508 (GRCm39) E71* probably null Het
Ltbp3 A T 19: 5,807,471 (GRCm39) Q1123L probably damaging Het
Myo5a A G 9: 75,081,297 (GRCm39) T961A probably benign Het
Naa25 T A 5: 121,573,041 (GRCm39) V720E probably null Het
Or52ab4 A G 7: 102,987,929 (GRCm39) I223V probably damaging Het
Or5b121 T C 19: 13,507,799 (GRCm39) I298T probably benign Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Ptbp1 T C 10: 79,695,458 (GRCm39) V209A probably damaging Het
Ranbp2 A G 10: 58,287,825 (GRCm39) Y31C probably damaging Het
Smg1 G A 7: 117,794,336 (GRCm39) probably benign Het
Stat2 A G 10: 128,119,386 (GRCm39) M457V probably benign Het
Trpm6 G T 19: 18,815,381 (GRCm39) E1156* probably null Het
Usp53 T A 3: 122,755,064 (GRCm39) R130S possibly damaging Het
Vwa5b1 A G 4: 138,333,852 (GRCm39) S193P probably benign Het
Xrn2 A G 2: 146,884,792 (GRCm39) I626V probably damaging Het
Zfp574 G A 7: 24,779,898 (GRCm39) A307T probably benign Het
Other mutations in Peli1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Peli1 APN 11 21,092,619 (GRCm39) missense probably damaging 0.99
IGL00484:Peli1 APN 11 21,096,952 (GRCm39) missense probably damaging 1.00
IGL01393:Peli1 APN 11 21,097,400 (GRCm39) missense probably benign 0.23
IGL01460:Peli1 APN 11 21,096,966 (GRCm39) missense probably benign 0.03
IGL01956:Peli1 APN 11 21,098,501 (GRCm39) missense probably damaging 1.00
R0242:Peli1 UTSW 11 21,092,602 (GRCm39) missense probably damaging 0.97
R0242:Peli1 UTSW 11 21,092,602 (GRCm39) missense probably damaging 0.97
R2029:Peli1 UTSW 11 21,098,110 (GRCm39) missense probably damaging 0.99
R4207:Peli1 UTSW 11 21,097,115 (GRCm39) splice site probably null
R4849:Peli1 UTSW 11 21,098,528 (GRCm39) utr 3 prime probably benign
R5368:Peli1 UTSW 11 21,098,389 (GRCm39) missense probably damaging 0.96
R6579:Peli1 UTSW 11 21,097,059 (GRCm39) missense probably benign 0.01
R7459:Peli1 UTSW 11 21,098,190 (GRCm39) nonsense probably null
R8965:Peli1 UTSW 11 21,098,488 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02