Incidental Mutation 'IGL02654:Rrp1'
ID302282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrp1
Ensembl Gene ENSMUSG00000061032
Gene Nameribosomal RNA processing 1 homolog (S. cerevisiae)
SynonymsNnp1, NNP-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02654
Quality Score
Status
Chromosome10
Chromosomal Location78400384-78413043 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78412939 bp
ZygosityHeterozygous
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]
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: 8,927,826 I468T possibly damaging Het
Anxa13 A G 15: 58,342,001 noncoding transcript Het
Arhgef33 A G 17: 80,370,311 Y429C probably damaging Het
BC024978 A G 7: 27,203,873 E289G probably damaging Het
Bdh1 T C 16: 31,456,615 probably benign Het
C77080 C T 4: 129,222,319 G851R probably damaging Het
Dennd4a A G 9: 64,910,191 probably benign Het
Dld G T 12: 31,333,917 H396N probably benign Het
Dsg1b T C 18: 20,409,262 V942A probably damaging Het
Eln A T 5: 134,717,054 probably benign Het
Fat3 G A 9: 15,996,975 T2577M possibly damaging Het
Gad1 A T 2: 70,572,781 K73M possibly damaging Het
Gipc1 T C 8: 83,663,151 V253A probably damaging Het
Gm21671 T A 5: 25,953,207 H49L probably benign Het
Gtpbp10 A C 5: 5,543,372 probably benign Het
Hgf A T 5: 16,561,051 T62S probably benign Het
Hivep1 T C 13: 42,157,685 S1134P probably damaging Het
Hnrnpc A G 14: 52,084,117 L80S probably damaging Het
Kif20a G A 18: 34,632,023 R770H probably damaging Het
Lcat T C 8: 105,939,769 T374A possibly damaging Het
Mlana A G 19: 29,704,618 probably null Het
Nynrin A G 14: 55,863,259 I169V possibly damaging Het
Olfr697 A T 7: 106,741,348 Y195* probably null Het
P3h3 A G 6: 124,845,265 V585A possibly damaging Het
Pcdhb17 T A 18: 37,486,561 M468K probably benign Het
Prl8a2 T G 13: 27,352,797 I134S possibly damaging Het
Rev3l T C 10: 39,862,734 V2828A probably damaging Het
Rhbdd1 G T 1: 82,342,783 V163F probably benign Het
Sephs1 A T 2: 4,884,555 N48I probably benign Het
Vmn1r71 A G 7: 10,748,315 Y149H probably benign Het
Wiz T C 17: 32,359,350 D396G probably damaging Het
Xirp2 A G 2: 67,514,671 S2419G possibly damaging Het
Zfp128 A G 7: 12,884,679 T35A possibly damaging Het
Zmym2 T A 14: 56,911,315 F362Y probably damaging Het
Other mutations in Rrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Rrp1 APN 10 78405071 utr 3 prime probably benign
IGL02836:Rrp1 APN 10 78405040 utr 3 prime probably benign
IGL02861:Rrp1 APN 10 78409222 splice site probably benign
R2133:Rrp1 UTSW 10 78401894 utr 3 prime probably benign
R4509:Rrp1 UTSW 10 78412822 missense possibly damaging 0.85
R5919:Rrp1 UTSW 10 78405588 missense probably damaging 1.00
R5940:Rrp1 UTSW 10 78405415 missense probably damaging 1.00
Posted On2015-04-16