Incidental Mutation 'IGL00096:Peli1'
ID 1193
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 # IGL00096
Quality Score
Status
Chromosome 11
Chromosomal Location 21041291-21100323 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21092619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 89 (V89I)
Ref Sequence ENSEMBL: ENSMUSP00000099018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093290] [ENSMUST00000101477]
AlphaFold Q8C669
Predicted Effect probably damaging
Transcript: ENSMUST00000093290
AA Change: V89I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090979
Gene: ENSMUSG00000020134
AA Change: V89I

DomainStartEndE-ValueType
Pfam:Pellino 8 418 5.4e-227 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101477
AA Change: V89I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099018
Gene: ENSMUSG00000020134
AA Change: V89I

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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp T C 6: 125,027,477 (GRCm39) Y42H probably damaging Het
Alpk1 A T 3: 127,474,692 (GRCm39) F437Y probably damaging Het
Bdp1 T C 13: 100,197,373 (GRCm39) D1004G possibly damaging Het
C9 A C 15: 6,516,137 (GRCm39) Q313H probably benign Het
Carmil1 T A 13: 24,295,821 (GRCm39) N398Y possibly damaging Het
Cyp2s1 A G 7: 25,508,683 (GRCm39) V253A probably damaging Het
Inpp5k T A 11: 75,537,646 (GRCm39) M352K possibly damaging Het
Lef1 C T 3: 130,907,499 (GRCm39) probably benign Het
Naip5 C A 13: 100,382,683 (GRCm39) E9* probably null Het
Or6y1 A T 1: 174,276,233 (GRCm39) T15S probably benign Het
Plb1 A G 5: 32,503,080 (GRCm39) Q1180R probably benign Het
Skic2 T A 17: 35,058,524 (GRCm39) I1198F probably damaging Het
Sorcs3 T A 19: 48,672,097 (GRCm39) probably null Het
Spin2f T A X: 30,905,704 (GRCm39) I51N probably damaging Het
Sptbn4 T C 7: 27,068,859 (GRCm39) K1800E probably damaging Het
Vmn2r67 A T 7: 84,801,138 (GRCm39) V266E probably damaging Het
Other mutations in Peli1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03119:Peli1 APN 11 21,090,560 (GRCm39) splice site probably benign
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 2011-07-12