Incidental Mutation 'IGL02540:Rrp9'
ID297690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrp9
Ensembl Gene ENSMUSG00000041506
Gene NameRRP9, small subunit (SSU) processome component, homolog (yeast)
SynonymsRnu3ip2, U3-55k, 55kDa, D9Wsu10e
Accession Numbers

NCBI RefSeq: NM_145620.4; MGI: 2384313

Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #IGL02540
Quality Score
Status
Chromosome9
Chromosomal Location106475963-106485424 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 106483547 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047721] [ENSMUST00000185336]
Predicted Effect probably benign
Transcript: ENSMUST00000047721
SMART Domains Protein: ENSMUSP00000038580
Gene: ENSMUSG00000041506

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
low complexity region 47 57 N/A INTRINSIC
coiled coil region 61 102 N/A INTRINSIC
WD40 135 174 1.15e-4 SMART
WD40 177 227 3.09e-5 SMART
WD40 230 269 2.42e-7 SMART
WD40 272 311 9.24e-4 SMART
WD40 313 351 2.4e-2 SMART
WD40 354 404 4.6e0 SMART
Blast:WD40 412 451 1e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156796
Predicted Effect probably benign
Transcript: ENSMUST00000185336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217303
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 member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]
Allele List at MGI

All alleles(3) : Targeted(1) Gene trapped(2)  

Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor2 C A 6: 119,359,495 R169L probably benign Het
AI314180 A T 4: 58,805,534 probably benign Het
Arhgap1 C T 2: 91,670,239 T371I probably damaging Het
Brpf3 C T 17: 28,828,354 P1031S probably damaging Het
Cenpu A G 8: 46,578,319 H245R probably damaging Het
Dhx36 A G 3: 62,506,888 S18P probably benign Het
Dst A G 1: 34,135,204 T217A probably damaging Het
Entpd8 A G 2: 25,084,719 probably null Het
Fez1 A G 9: 36,850,399 R122G probably damaging Het
Heatr5b A T 17: 78,773,572 M1417K probably damaging Het
Higd1c T C 15: 100,365,366 probably benign Het
Icosl G A 10: 78,069,536 probably null Het
Il24 T C 1: 130,887,303 probably benign Het
Kank3 T A 17: 33,819,187 probably benign Het
Lrriq1 A G 10: 103,215,019 L624P probably benign Het
Mov10l1 C A 15: 89,018,211 T768K probably benign Het
Olfr259 A T 2: 87,108,042 L115Q probably damaging Het
Olfr304 T A 7: 86,386,178 T161S possibly damaging Het
Olfr995 A G 2: 85,438,915 M81T probably benign Het
Pkn2 A T 3: 142,809,704 F649I probably benign Het
Pld1 A G 3: 28,029,160 probably benign Het
Prrc2c G A 1: 162,723,137 S86L probably damaging Het
Rai1 G A 11: 60,186,924 A605T probably benign Het
Reln T A 5: 22,034,752 Q839L probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tmtc2 A T 10: 105,413,339 C178S probably benign Het
Vmn1r172 T A 7: 23,659,925 F78L probably benign Het
Zfpm1 A G 8: 122,332,120 S160G possibly damaging Het
Other mutations in Rrp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02383:Rrp9 APN 9 106485272 missense probably damaging 0.99
IGL02581:Rrp9 APN 9 106483628 missense probably damaging 1.00
P0005:Rrp9 UTSW 9 106481177 missense probably benign
R1757:Rrp9 UTSW 9 106483004 missense probably damaging 0.99
R5585:Rrp9 UTSW 9 106485326 missense probably benign 0.35
R6135:Rrp9 UTSW 9 106483022 missense probably damaging 1.00
R6437:Rrp9 UTSW 9 106482951 missense probably benign 0.34
R6575:Rrp9 UTSW 9 106483579 missense probably damaging 0.99
R7878:Rrp9 UTSW 9 106481317 missense probably damaging 1.00
R7961:Rrp9 UTSW 9 106481317 missense probably damaging 1.00
Z1177:Rrp9 UTSW 9 106483800 missense probably damaging 1.00
Posted On2015-04-16