Incidental Mutation 'IGL01448:Pes1'
ID 84534
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pes1
Ensembl Gene ENSMUSG00000020430
Gene Name pescadillo ribosomal biogenesis factor 1
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01448
Quality Score
Status
Chromosome 11
Chromosomal Location 3913975-3930004 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3927979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 544 (E544K)
Ref Sequence ENSEMBL: ENSMUSP00000105612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020705] [ENSMUST00000042344] [ENSMUST00000109985]
AlphaFold Q9EQ61
Predicted Effect probably benign
Transcript: ENSMUST00000020705
AA Change: E540K

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020705
Gene: ENSMUSG00000020430
AA Change: E540K

DomainStartEndE-ValueType
Pfam:Pescadillo_N 6 286 5.1e-135 PFAM
BRCT 323 404 4.81e-7 SMART
coiled coil region 469 542 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000042344
SMART Domains Protein: ENSMUSP00000048953
Gene: ENSMUSG00000034493

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
low complexity region 84 93 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109985
AA Change: E544K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105612
Gene: ENSMUSG00000020430
AA Change: E544K

DomainStartEndE-ValueType
Pfam:Pescadillo_N 7 284 1.1e-130 PFAM
BRCT 327 408 4.81e-7 SMART
coiled coil region 473 546 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137544
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 nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]
PHENOTYPE: Targeted disuption of the mouse gene results in embryonic arrest at morula stages of development, as well as failure of nucleologenesis and disruption of ribosome biogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Anapc7 G A 5: 122,566,276 (GRCm39) A62T probably damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Eftud2 G A 11: 102,756,389 (GRCm39) probably benign Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fign A G 2: 63,810,032 (GRCm39) S413P probably damaging Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
Glb1 A G 9: 114,279,745 (GRCm39) probably benign Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Il18r1 A G 1: 40,513,890 (GRCm39) E32G probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Kiz A G 2: 146,705,721 (GRCm39) K94E probably benign Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Or6c69 A G 10: 129,748,114 (GRCm39) I11T possibly damaging Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Rabgap1l A G 1: 160,568,315 (GRCm39) probably benign Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
Spata31d1a T A 13: 59,849,373 (GRCm39) R918S probably benign Het
St3gal4 T C 9: 34,963,627 (GRCm39) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vezt T A 10: 93,832,719 (GRCm39) I231F probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp512b T C 2: 181,229,578 (GRCm39) T625A possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly damaging Het
Other mutations in Pes1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Pes1 APN 11 3,926,803 (GRCm39) missense probably damaging 1.00
H8441:Pes1 UTSW 11 3,927,636 (GRCm39) small deletion probably benign
R0634:Pes1 UTSW 11 3,927,795 (GRCm39) splice site probably benign
R0634:Pes1 UTSW 11 3,927,794 (GRCm39) splice site probably benign
R0883:Pes1 UTSW 11 3,925,557 (GRCm39) missense probably damaging 1.00
R0980:Pes1 UTSW 11 3,927,636 (GRCm39) small deletion probably benign
R1435:Pes1 UTSW 11 3,926,075 (GRCm39) missense probably benign 0.00
R1557:Pes1 UTSW 11 3,926,824 (GRCm39) missense probably damaging 1.00
R1694:Pes1 UTSW 11 3,927,719 (GRCm39) small deletion probably benign
R1885:Pes1 UTSW 11 3,919,482 (GRCm39) missense probably damaging 1.00
R1929:Pes1 UTSW 11 3,919,524 (GRCm39) missense probably damaging 1.00
R2270:Pes1 UTSW 11 3,919,524 (GRCm39) missense probably damaging 1.00
R2272:Pes1 UTSW 11 3,919,524 (GRCm39) missense probably damaging 1.00
R2362:Pes1 UTSW 11 3,927,123 (GRCm39) missense probably damaging 1.00
R2869:Pes1 UTSW 11 3,926,834 (GRCm39) missense probably benign 0.05
R2869:Pes1 UTSW 11 3,926,834 (GRCm39) missense probably benign 0.05
R2870:Pes1 UTSW 11 3,926,834 (GRCm39) missense probably benign 0.05
R2870:Pes1 UTSW 11 3,926,834 (GRCm39) missense probably benign 0.05
R2871:Pes1 UTSW 11 3,926,834 (GRCm39) missense probably benign 0.05
R2871:Pes1 UTSW 11 3,926,834 (GRCm39) missense probably benign 0.05
R2873:Pes1 UTSW 11 3,926,834 (GRCm39) missense probably benign 0.05
R3024:Pes1 UTSW 11 3,927,719 (GRCm39) small deletion probably benign
R3039:Pes1 UTSW 11 3,925,547 (GRCm39) missense probably damaging 1.00
R3195:Pes1 UTSW 11 3,925,736 (GRCm39) splice site probably benign
R3773:Pes1 UTSW 11 3,925,548 (GRCm39) missense probably damaging 1.00
R4590:Pes1 UTSW 11 3,927,986 (GRCm39) missense probably damaging 1.00
R4739:Pes1 UTSW 11 3,914,058 (GRCm39) missense probably damaging 1.00
R5396:Pes1 UTSW 11 3,927,719 (GRCm39) small deletion probably benign
R6016:Pes1 UTSW 11 3,928,004 (GRCm39) missense possibly damaging 0.68
R6351:Pes1 UTSW 11 3,928,865 (GRCm39) missense probably benign
R6921:Pes1 UTSW 11 3,923,330 (GRCm39) missense probably damaging 0.98
R7315:Pes1 UTSW 11 3,926,085 (GRCm39) missense probably benign 0.00
R8178:Pes1 UTSW 11 3,927,718 (GRCm39) missense probably benign
R9599:Pes1 UTSW 11 3,926,118 (GRCm39) missense probably benign 0.00
Posted On 2013-11-11