Incidental Mutation 'IGL02654:Rrp1'
ID 302282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrp1
Ensembl Gene ENSMUSG00000061032
Gene Name ribosomal RNA processing 1
Synonyms Nnp1, NNP-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02654
Quality Score
Status
Chromosome 10
Chromosomal Location 78236218-78248877 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78248773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 5 (V5A)
Ref Sequence ENSEMBL: ENSMUSP00000058785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062678] [ENSMUST00000219374]
AlphaFold P56183
Predicted Effect probably benign
Transcript: ENSMUST00000062678
AA Change: V5A

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000058785
Gene: ENSMUSG00000061032
AA Change: V5A

DomainStartEndE-ValueType
Pfam:Nop52 11 219 5.3e-74 PFAM
low complexity region 240 307 N/A INTRINSIC
low complexity region 406 425 N/A INTRINSIC
low complexity region 431 441 N/A INTRINSIC
low complexity region 447 454 N/A INTRINSIC
low complexity region 458 486 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219141
Predicted Effect probably benign
Transcript: ENSMUST00000219374
AA Change: V5A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219901
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,977,826 (GRCm39) I468T possibly damaging Het
Actmap A G 7: 26,903,298 (GRCm39) E289G probably damaging Het
Anxa13 A G 15: 58,205,397 (GRCm39) noncoding transcript Het
Arhgef33 A G 17: 80,677,740 (GRCm39) Y429C probably damaging Het
Bdh1 T C 16: 31,275,433 (GRCm39) probably benign Het
Dennd4a A G 9: 64,817,473 (GRCm39) probably benign Het
Dld G T 12: 31,383,916 (GRCm39) H396N probably benign Het
Dsg1b T C 18: 20,542,319 (GRCm39) V942A probably damaging Het
Eln A T 5: 134,745,908 (GRCm39) probably benign Het
Fat3 G A 9: 15,908,271 (GRCm39) T2577M possibly damaging Het
Gad1 A T 2: 70,403,125 (GRCm39) K73M possibly damaging Het
Gipc1 T C 8: 84,389,780 (GRCm39) V253A probably damaging Het
Gtpbp10 A C 5: 5,593,372 (GRCm39) probably benign Het
Hgf A T 5: 16,766,049 (GRCm39) T62S probably benign Het
Hivep1 T C 13: 42,311,161 (GRCm39) S1134P probably damaging Het
Hnrnpc A G 14: 52,321,574 (GRCm39) L80S probably damaging Het
Kif20a G A 18: 34,765,076 (GRCm39) R770H probably damaging Het
Lcat T C 8: 106,666,401 (GRCm39) T374A possibly damaging Het
Mlana A G 19: 29,682,018 (GRCm39) probably null Het
Nhsl3 C T 4: 129,116,112 (GRCm39) G851R probably damaging Het
Nynrin A G 14: 56,100,716 (GRCm39) I169V possibly damaging Het
Or2ag15 A T 7: 106,340,555 (GRCm39) Y195* probably null Het
P3h3 A G 6: 124,822,228 (GRCm39) V585A possibly damaging Het
Pcdhb17 T A 18: 37,619,614 (GRCm39) M468K probably benign Het
Prl8a2 T G 13: 27,536,780 (GRCm39) I134S possibly damaging Het
Rev3l T C 10: 39,738,730 (GRCm39) V2828A probably damaging Het
Rhbdd1 G T 1: 82,320,504 (GRCm39) V163F probably benign Het
Sephs1 A T 2: 4,889,366 (GRCm39) N48I probably benign Het
Speer4a3 T A 5: 26,158,205 (GRCm39) H49L probably benign Het
Vmn1r71 A G 7: 10,482,242 (GRCm39) Y149H probably benign Het
Wiz T C 17: 32,578,324 (GRCm39) D396G probably damaging Het
Xirp2 A G 2: 67,345,015 (GRCm39) S2419G possibly damaging Het
Zfp128 A G 7: 12,618,606 (GRCm39) T35A possibly damaging Het
Zmym2 T A 14: 57,148,772 (GRCm39) F362Y probably damaging Het
Other mutations in Rrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Rrp1 APN 10 78,240,905 (GRCm39) utr 3 prime probably benign
IGL02836:Rrp1 APN 10 78,240,874 (GRCm39) utr 3 prime probably benign
IGL02861:Rrp1 APN 10 78,245,056 (GRCm39) splice site probably benign
R2133:Rrp1 UTSW 10 78,237,728 (GRCm39) utr 3 prime probably benign
R4509:Rrp1 UTSW 10 78,248,656 (GRCm39) missense possibly damaging 0.85
R5919:Rrp1 UTSW 10 78,241,422 (GRCm39) missense probably damaging 1.00
R5940:Rrp1 UTSW 10 78,241,249 (GRCm39) missense probably damaging 1.00
R8798:Rrp1 UTSW 10 78,245,024 (GRCm39) missense probably damaging 1.00
R9103:Rrp1 UTSW 10 78,240,876 (GRCm39) missense unknown
R9603:Rrp1 UTSW 10 78,240,757 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16