Incidental Mutation 'R6011:Pelo'
ID 479768
Institutional Source Beutler Lab
Gene Symbol Pelo
Ensembl Gene ENSMUSG00000042275
Gene Name pelota mRNA surveillance and ribosome rescue factor
Synonyms
MMRRC Submission 043253-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R6011 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 115224891-115226694 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115226302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 52 (S52P)
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 benign
Transcript: ENSMUST00000109226
AA Change: S52P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000104849
Gene: ENSMUSG00000042275
AA Change: S52P

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: ENSMUST00000225486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225343
Predicted Effect probably benign
Transcript: ENSMUST00000224997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225093
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
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
Acaca T A 11: 84,136,570 (GRCm39) N533K probably benign Het
Adamts15 G T 9: 30,814,082 (GRCm39) H694Q probably damaging Het
Adcy5 T C 16: 34,977,598 (GRCm39) L377P probably benign Het
Add2 T C 6: 86,075,607 (GRCm39) L252P probably damaging Het
Amer1 ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC X: 94,470,889 (GRCm39) probably benign Het
Ankrd13d A G 19: 4,331,962 (GRCm39) L39P probably damaging Het
Asic1 G T 15: 99,596,960 (GRCm39) A541S probably benign Het
Bhmt1b A G 18: 87,774,663 (GRCm39) E62G probably damaging Het
Bpifb2 A G 2: 153,731,496 (GRCm39) probably null Het
Catsper3 A G 13: 55,934,305 (GRCm39) I75M probably damaging Het
Ccser2 T C 14: 36,601,532 (GRCm39) E837G probably benign Het
Clasp2 C T 9: 113,705,315 (GRCm39) P557L probably benign Het
Clstn2 C T 9: 97,338,579 (GRCm39) R860Q probably benign Het
Cplx3 A T 9: 57,523,038 (GRCm39) D140E probably damaging Het
Cyp2c66 A G 19: 39,130,380 (GRCm39) K72E probably benign Het
Cyp3a44 A G 5: 145,738,084 (GRCm39) probably null Het
Disp2 G A 2: 118,621,301 (GRCm39) V678I possibly damaging Het
Dock4 T C 12: 40,867,756 (GRCm39) probably null Het
Eml3 T C 19: 8,916,471 (GRCm39) Y688H probably damaging Het
Fam187a A G 11: 102,776,267 (GRCm39) K24E probably damaging Het
Fhit T C 14: 9,870,068 (GRCm38) K134E probably benign Het
Foxl3 A G 5: 138,807,374 (GRCm39) *217W probably null Het
Gm16485 A T 9: 8,972,454 (GRCm39) probably benign Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Hmgxb3 G A 18: 61,296,096 (GRCm39) T304I probably damaging Het
Lgsn A G 1: 31,242,847 (GRCm39) S310G probably damaging Het
Muc21 T A 17: 35,933,074 (GRCm39) probably benign Het
Niban2 T C 2: 32,812,877 (GRCm39) Y482H probably damaging Het
Or12e13 A G 2: 87,664,259 (GRCm39) N292S probably damaging Het
Or4k42 C A 2: 111,320,192 (GRCm39) A104S probably benign Het
Or6c8b A T 10: 128,882,508 (GRCm39) H141Q probably benign Het
Or7g25 T A 9: 19,159,807 (GRCm39) E296V probably damaging Het
Or9i1b G A 19: 13,896,521 (GRCm39) V46I probably benign Het
Prune2 A G 19: 17,096,080 (GRCm39) N528S probably benign Het
Rfc3 T A 5: 151,567,184 (GRCm39) I291L probably damaging Het
Rpl35 A T 2: 38,894,813 (GRCm39) probably null Het
Sectm1b C T 11: 120,946,704 (GRCm39) V64I possibly damaging Het
Serpina12 A G 12: 104,001,993 (GRCm39) M241T probably damaging Het
Serpina1a T A 12: 103,823,728 (GRCm39) D195V probably damaging Het
Sesn2 C T 4: 132,226,708 (GRCm39) V129M probably damaging Het
Slc4a1 A C 11: 102,243,357 (GRCm39) V758G probably damaging Het
Tmx4 A T 2: 134,481,756 (GRCm39) Y56N probably damaging Het
Traj50 T C 14: 54,405,091 (GRCm39) probably benign Het
Trio T G 15: 27,735,631 (GRCm39) K2820Q probably damaging Het
Ttc28 G A 5: 111,434,309 (GRCm39) G2417S probably benign Het
Usp32 T C 11: 84,922,923 (GRCm39) D665G possibly damaging Het
Other mutations in Pelo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01830:Pelo APN 13 115,225,131 (GRCm39) missense probably damaging 1.00
IGL03303:Pelo APN 13 115,225,197 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- ATGCGTTCCAGAACCACACTG -3'
(R):5'- GTCCCCTGTTCTGAACTGAG -3'

Sequencing Primer
(F):5'- CCACTGTTTCTTGGCCAGGG -3'
(R):5'- GTTCTGAACTGAGCCCCTG -3'
Posted On 2017-06-26