Incidental Mutation 'IGL01393:Peli1'
ID 79310
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 # IGL01393
Quality Score
Status
Chromosome 11
Chromosomal Location 21041291-21100323 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21097400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 215 (V215A)
Ref Sequence ENSEMBL: ENSMUSP00000099018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093290] [ENSMUST00000101477]
AlphaFold Q8C669
Predicted Effect probably benign
Transcript: ENSMUST00000093290
AA Change: V215A

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000090979
Gene: ENSMUSG00000020134
AA Change: V215A

DomainStartEndE-ValueType
Pfam:Pellino 8 418 5.4e-227 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101477
AA Change: V215A

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099018
Gene: ENSMUSG00000020134
AA Change: V215A

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G A 14: 35,818,379 (GRCm39) V126I possibly damaging Het
A630073D07Rik G T 6: 132,603,577 (GRCm39) Q60K unknown Het
Alpk2 A G 18: 65,440,779 (GRCm39) S205P possibly damaging Het
Ang4 T A 14: 52,001,670 (GRCm39) I93L probably benign Het
Arpin A G 7: 79,581,588 (GRCm39) V44A possibly damaging Het
Atxn3 A T 12: 101,899,306 (GRCm39) C263* probably null Het
Cd209f T C 8: 4,153,154 (GRCm39) N260S probably damaging Het
Cdh20 A G 1: 104,861,969 (GRCm39) R50G probably benign Het
Cracd T C 5: 77,006,818 (GRCm39) S1060P unknown Het
Csmd3 C T 15: 48,320,995 (GRCm39) V272I possibly damaging Het
Dst A T 1: 34,206,706 (GRCm39) Y1136F possibly damaging Het
Fam20c A G 5: 138,793,026 (GRCm39) Y420C probably damaging Het
Fancd2 T A 6: 113,554,321 (GRCm39) probably benign Het
Fat2 T C 11: 55,160,135 (GRCm39) D3326G probably benign Het
Filip1l A G 16: 57,392,586 (GRCm39) N820S probably damaging Het
Gm26566 G A 4: 88,640,581 (GRCm39) probably benign Het
Gm4792 A G 10: 94,134,304 (GRCm39) L22P unknown Het
Gpat2 A G 2: 127,274,571 (GRCm39) E386G probably damaging Het
Grm3 T C 5: 9,639,856 (GRCm39) D63G probably benign Het
Hdc A G 2: 126,436,581 (GRCm39) V430A probably benign Het
Hnf4a T C 2: 163,393,492 (GRCm39) probably benign Het
Il2ra A G 2: 11,687,865 (GRCm39) D215G probably damaging Het
Kctd3 T C 1: 188,732,487 (GRCm39) I74V probably benign Het
Kctd5 A T 17: 24,278,292 (GRCm39) probably null Het
Lrsam1 A T 2: 32,845,185 (GRCm39) probably benign Het
Mblac1 A G 5: 138,193,036 (GRCm39) N126S possibly damaging Het
Mmrn1 T A 6: 60,937,692 (GRCm39) probably benign Het
Mpp3 A T 11: 101,916,304 (GRCm39) L16Q probably damaging Het
Mrgprb1 C A 7: 48,097,754 (GRCm39) A53S possibly damaging Het
Nbea C A 3: 55,912,729 (GRCm39) M1019I probably benign Het
Nlrp5 A G 7: 23,103,599 (GRCm39) K22R probably null Het
Or1j4 G A 2: 36,740,553 (GRCm39) R165Q probably benign Het
Or2ag18 C T 7: 106,405,642 (GRCm39) G9E probably benign Het
Or4k48 A G 2: 111,475,601 (GRCm39) V247A probably damaging Het
Pard6b T A 2: 167,929,298 (GRCm39) S35T probably benign Het
Pkp4 A T 2: 59,178,269 (GRCm39) D1003V probably damaging Het
Pot1a G A 6: 25,744,630 (GRCm39) R625* probably null Het
Ppp1r16a T C 15: 76,578,744 (GRCm39) S483P probably benign Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Prrg3 T C X: 71,011,123 (GRCm39) V210A probably benign Het
Rev1 A G 1: 38,131,144 (GRCm39) V168A probably damaging Het
Sez6l G T 5: 112,586,261 (GRCm39) probably benign Het
Spag17 A G 3: 99,934,926 (GRCm39) T711A possibly damaging Het
Spice1 A G 16: 44,186,993 (GRCm39) I163M probably benign Het
Tex13c1 C T X: 42,680,233 (GRCm39) A66V probably damaging Het
Tmem132d A T 5: 127,861,702 (GRCm39) S806R probably benign Het
Tnc A G 4: 63,932,291 (GRCm39) probably benign Het
Tpbg T A 9: 85,726,145 (GRCm39) V38E unknown Het
Unc13c T A 9: 73,447,552 (GRCm39) I1883F probably benign Het
Vmn2r61 A C 7: 41,916,258 (GRCm39) Q290H probably benign Het
Vps39 A G 2: 120,180,719 (GRCm39) probably benign Het
Zfp369 T C 13: 65,442,288 (GRCm39) V294A possibly damaging Het
Zfp821 T A 8: 110,436,110 (GRCm39) probably benign Het
Zfp941 C T 7: 140,391,841 (GRCm39) G506E probably damaging 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
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 2013-11-05