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, 2810468L03Rik, A930031K15Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03119
Quality Score
Status
Chromosome 11
Chromosomal Location 21091291-21150323 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 21140560 bp (GRCm38)
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: 8,714,887 T626A probably benign Het
Adcy1 C T 11: 7,109,051 T319I probably damaging Het
Adgrv1 A G 13: 81,382,373 S5861P probably damaging Het
Adgrv1 A C 13: 81,433,700 C4742G probably benign Het
Arid5b A T 10: 68,243,227 D93E probably damaging Het
Atp6v1h A G 1: 5,095,669 T121A probably benign Het
Atxn7 C T 14: 14,100,734 L807F probably damaging Het
Cep104 A C 4: 153,981,724 K126N probably damaging Het
Dcaf6 T C 1: 165,339,976 E708G probably damaging Het
Dst A G 1: 34,161,062 Y107C probably damaging Het
E2f3 A G 13: 29,985,365 S102P probably benign Het
Eif3e A C 15: 43,265,604 S207A probably benign Het
Etl4 A G 2: 20,713,387 Y313C probably damaging Het
Fyttd1 T C 16: 32,900,695 V121A probably benign Het
Gstk1 T C 6: 42,249,899 S200P probably damaging Het
Ifrd1 A T 12: 40,212,334 F244L probably null Het
Ints7 T C 1: 191,610,365 V491A probably damaging Het
Kcnd2 G T 6: 21,216,509 E71* probably null Het
Ltbp3 A T 19: 5,757,443 Q1123L probably damaging Het
Myo5a A G 9: 75,174,015 T961A probably benign Het
Naa25 T A 5: 121,434,978 V720E probably null Het
Olfr1480 T C 19: 13,530,435 I298T probably benign Het
Olfr599 A G 7: 103,338,722 I223V probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Ptbp1 T C 10: 79,859,624 V209A probably damaging Het
Ranbp2 A G 10: 58,452,003 Y31C probably damaging Het
Smg1 G A 7: 118,195,113 probably benign Het
Stat2 A G 10: 128,283,517 M457V probably benign Het
Trpm6 G T 19: 18,838,017 E1156* probably null Het
Usp53 T A 3: 122,961,415 R130S possibly damaging Het
Vwa5b1 A G 4: 138,606,541 S193P probably benign Het
Xrn2 A G 2: 147,042,872 I626V probably damaging Het
Zfp574 G A 7: 25,080,473 A307T probably benign Het
Other mutations in Peli1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Peli1 APN 11 21142619 missense probably damaging 0.99
IGL00484:Peli1 APN 11 21146952 missense probably damaging 1.00
IGL01393:Peli1 APN 11 21147400 missense probably benign 0.23
IGL01460:Peli1 APN 11 21146966 missense probably benign 0.03
IGL01956:Peli1 APN 11 21148501 missense probably damaging 1.00
R0242:Peli1 UTSW 11 21142602 missense probably damaging 0.97
R0242:Peli1 UTSW 11 21142602 missense probably damaging 0.97
R2029:Peli1 UTSW 11 21148110 missense probably damaging 0.99
R4207:Peli1 UTSW 11 21147115 splice site probably null
R4849:Peli1 UTSW 11 21148528 utr 3 prime probably benign
R5368:Peli1 UTSW 11 21148389 missense probably damaging 0.96
R6579:Peli1 UTSW 11 21147059 missense probably benign 0.01
R7459:Peli1 UTSW 11 21148190 nonsense probably null
R8965:Peli1 UTSW 11 21148488 missense probably damaging 0.98
Posted On 2016-08-02