Incidental Mutation 'R3195:Pes1'
ID 267607
Institutional Source Beutler Lab
Gene Symbol Pes1
Ensembl Gene ENSMUSG00000020430
Gene Name pescadillo ribosomal biogenesis factor 1
Synonyms
MMRRC Submission 040616-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3195 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 3913975-3930004 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 3925736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020705] [ENSMUST00000042344] [ENSMUST00000109985]
AlphaFold Q9EQ61
Predicted Effect probably benign
Transcript: ENSMUST00000020705
SMART Domains Protein: ENSMUSP00000020705
Gene: ENSMUSG00000020430

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 probably benign
Transcript: ENSMUST00000109985
SMART Domains Protein: ENSMUSP00000105612
Gene: ENSMUSG00000020430

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: ENSMUST00000130973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137544
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (33/34)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,132 (GRCm39) N158K probably benign Het
Acnat1 G C 4: 49,447,457 (GRCm39) P357A probably damaging Het
Akap6 T A 12: 53,119,240 (GRCm39) C1102* probably null Het
Calb2 C T 8: 110,883,635 (GRCm39) probably benign Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Csgalnact1 TGG TG 8: 68,913,737 (GRCm39) probably null Het
Dmtf1 A G 5: 9,182,454 (GRCm39) probably benign Het
Focad A G 4: 88,325,588 (GRCm39) E151G possibly damaging Het
Frem1 A G 4: 82,932,351 (GRCm39) F117L probably damaging Het
Gab2 A G 7: 96,921,236 (GRCm39) T204A probably benign Het
Gapdh T C 6: 125,139,583 (GRCm39) N229S possibly damaging Het
Gm3604 A T 13: 62,517,868 (GRCm39) C163* probably null Het
Iqub G C 6: 24,462,036 (GRCm39) probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
L1td1 A G 4: 98,625,755 (GRCm39) E650G possibly damaging Het
Lilra5 G A 7: 4,241,756 (GRCm39) G185D probably damaging Het
Lpin1 A G 12: 16,615,584 (GRCm39) S323P possibly damaging Het
Mmp7 C A 9: 7,692,219 (GRCm39) S31R probably benign Het
Myo1h G A 5: 114,466,801 (GRCm39) C283Y probably benign Het
Nfkbiz A G 16: 55,639,991 (GRCm39) L122P probably damaging Het
Or10c1 A G 17: 37,522,427 (GRCm39) F106L possibly damaging Het
Or1e35 T C 11: 73,797,484 (GRCm39) Y278C possibly damaging Het
Paqr8 A G 1: 21,005,257 (GRCm39) E137G probably damaging Het
Pde4b G A 4: 102,456,840 (GRCm39) A429T probably damaging Het
Reln A T 5: 22,245,418 (GRCm39) I730N possibly damaging Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Skint9 T G 4: 112,248,148 (GRCm39) I199L probably benign Het
Slc13a4 C T 6: 35,245,861 (GRCm39) V595M probably damaging Het
Smarca2 A G 19: 26,661,222 (GRCm39) E939G possibly damaging Het
Spg11 A G 2: 121,913,879 (GRCm39) probably null Het
Trpm1 T A 7: 63,849,061 (GRCm39) Y102* probably null Het
Usp42 A G 5: 143,702,954 (GRCm39) S556P probably benign Het
Zfp957 A G 14: 79,450,332 (GRCm39) V489A probably damaging Het
Other mutations in Pes1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Pes1 APN 11 3,926,803 (GRCm39) missense probably damaging 1.00
IGL01448:Pes1 APN 11 3,927,979 (GRCm39) missense possibly damaging 0.89
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
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
Predicted Primers PCR Primer
(F):5'- TGTGGACTACAGGGTCATGG -3'
(R):5'- ACAGGGTCACATTTGGGTC -3'

Sequencing Primer
(F):5'- GTCATGGCCACCTTCACTGAG -3'
(R):5'- GGGTTCTAAGGGTAAGTCTTACAAC -3'
Posted On 2015-02-18