Incidental Mutation 'IGL03303:Pelo'
ID 416289
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pelo
Ensembl Gene ENSMUSG00000042275
Gene Name pelota mRNA surveillance and ribosome rescue factor
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL03303
Quality Score
Status
Chromosome 13
Chromosomal Location 115224891-115226694 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 115225197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 343 (V343L)
Ref Sequence ENSEMBL: ENSMUSP00000104849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061673] [ENSMUST00000109226] [ENSMUST00000224495] [ENSMUST00000224997]
AlphaFold Q80X73
Predicted Effect probably benign
Transcript: ENSMUST00000061673
SMART Domains Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284

DomainStartEndE-ValueType
Int_alpha 43 96 1.63e0 SMART
VWA 170 360 4.24e-44 SMART
Int_alpha 432 481 4.21e-3 SMART
Int_alpha 485 542 3.19e-12 SMART
Int_alpha 566 621 1.79e-15 SMART
Int_alpha 628 682 3.04e1 SMART
low complexity region 1108 1122 N/A INTRINSIC
PDB:2L8S|A 1135 1179 5e-10 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000109226
AA Change: V343L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104849
Gene: ENSMUSG00000042275
AA Change: V343L

DomainStartEndE-ValueType
eRF1_1 1 130 9.4e-63 SMART
Pfam:eRF1_2 136 268 1.1e-38 PFAM
Pfam:eRF1_3 271 370 4.9e-28 PFAM
low complexity region 372 385 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224493
Predicted Effect probably benign
Transcript: ENSMUST00000224495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224541
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224865
Predicted Effect probably benign
Transcript: ENSMUST00000224997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225093
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with embryonic growth retardation, aneuploidy, polyploidy, and developmental failure past E7.5 due to defects in cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,644,122 (GRCm39) V940E probably damaging Het
Agap1 T A 1: 89,592,874 (GRCm39) V307D probably damaging Het
Amd1 A G 10: 40,166,121 (GRCm39) V286A possibly damaging Het
Bltp1 A G 3: 36,924,226 (GRCm39) E17G possibly damaging Het
Chrne T C 11: 70,505,926 (GRCm39) K453R possibly damaging Het
Ckm T A 7: 19,148,263 (GRCm39) probably benign Het
Ckmt1 A G 2: 121,190,486 (GRCm39) T138A probably benign Het
Cldn4 A G 5: 134,975,103 (GRCm39) V166A possibly damaging Het
Dclre1a T C 19: 56,535,198 (GRCm39) T129A possibly damaging Het
Dlgap2 T A 8: 14,777,812 (GRCm39) D352E probably damaging Het
Dnmt1 A G 9: 20,838,006 (GRCm39) I236T probably benign Het
Enam G T 5: 88,652,450 (GRCm39) V1320L probably benign Het
Ezh1 A C 11: 101,086,497 (GRCm39) probably null Het
F13b A T 1: 139,440,774 (GRCm39) D410V possibly damaging Het
Fcrl6 A T 1: 172,425,255 (GRCm39) Y259N probably damaging Het
Fpr-rs7 A T 17: 20,334,001 (GRCm39) F163Y possibly damaging Het
Gpihbp1 C T 15: 75,469,827 (GRCm39) Q181* probably null Het
Htr2b T C 1: 86,027,061 (GRCm39) probably benign Het
Igkv1-35 A G 6: 69,988,635 (GRCm39) I8T probably benign Het
Kcnq2 T C 2: 180,724,182 (GRCm39) T584A probably benign Het
Khdrbs3 A G 15: 68,896,672 (GRCm39) T111A probably benign Het
Krtap29-1 A T 11: 99,869,669 (GRCm39) C71S probably benign Het
Lrrc4c A T 2: 97,459,937 (GRCm39) I188F probably damaging Het
Med1 G T 11: 98,049,178 (GRCm39) N539K probably damaging Het
Mga T A 2: 119,733,933 (GRCm39) D260E probably damaging Het
Mnd1 A G 3: 84,012,244 (GRCm39) I155T probably benign Het
Msrb3 T C 10: 120,620,046 (GRCm39) D91G probably benign Het
Mycbp2 A T 14: 103,485,194 (GRCm39) D1102E probably damaging Het
Nfx1 T A 4: 41,004,323 (GRCm39) probably benign Het
Nrsn2 T C 2: 152,216,131 (GRCm39) D24G possibly damaging Het
Or4c127 A T 2: 89,832,810 (GRCm39) K20I possibly damaging Het
Osmr T A 15: 6,872,289 (GRCm39) R268S probably benign Het
Rp1 T A 1: 4,415,040 (GRCm39) N2024I probably damaging Het
Rps6ka2 C T 17: 7,495,411 (GRCm39) Q33* probably null Het
Slfn2 G A 11: 82,960,293 (GRCm39) V91I possibly damaging Het
Socs6 G T 18: 88,887,868 (GRCm39) A349E probably damaging Het
Syt2 A G 1: 134,669,649 (GRCm39) N97D probably benign Het
Tas2r123 T A 6: 132,824,401 (GRCm39) H99Q probably damaging Het
Tmc3 A G 7: 83,239,933 (GRCm39) probably benign Het
Ube2s A T 7: 4,813,476 (GRCm39) V35D probably damaging Het
Usp32 A T 11: 84,913,658 (GRCm39) V891D probably damaging Het
Vmn1r169 A T 7: 23,277,434 (GRCm39) E275D probably benign Het
Vps13c A G 9: 67,841,786 (GRCm39) H1936R probably benign Het
Wrap73 C A 4: 154,231,000 (GRCm39) A92E probably damaging Het
Zfhx4 C T 3: 5,468,410 (GRCm39) T2856M probably damaging Het
Zmym1 A T 4: 126,942,927 (GRCm39) I487N probably damaging Het
Other mutations in Pelo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01830:Pelo APN 13 115,225,131 (GRCm39) missense probably damaging 1.00
R0136:Pelo UTSW 13 115,225,439 (GRCm39) nonsense probably null
R0299:Pelo UTSW 13 115,225,439 (GRCm39) nonsense probably null
R4724:Pelo UTSW 13 115,225,271 (GRCm39) missense probably damaging 1.00
R5567:Pelo UTSW 13 115,226,152 (GRCm39) missense probably benign 0.05
R5570:Pelo UTSW 13 115,226,152 (GRCm39) missense probably benign 0.05
R5587:Pelo UTSW 13 115,226,409 (GRCm39) missense possibly damaging 0.50
R5917:Pelo UTSW 13 115,225,930 (GRCm39) missense possibly damaging 0.89
R5919:Pelo UTSW 13 115,225,845 (GRCm39) missense possibly damaging 0.88
R5931:Pelo UTSW 13 115,225,379 (GRCm39) missense probably benign 0.00
R6011:Pelo UTSW 13 115,226,302 (GRCm39) missense probably benign 0.01
R7838:Pelo UTSW 13 115,226,184 (GRCm39) missense probably damaging 1.00
R8887:Pelo UTSW 13 115,225,451 (GRCm39) missense probably benign 0.16
Posted On 2016-08-02