Incidental Mutation 'IGL00587:Rrp15'
ID7304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrp15
Ensembl Gene ENSMUSG00000001305
Gene Nameribosomal RNA processing 15 homolog (S. cerevisiae)
Synonyms2810430M08Rik, 5430437H21Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #IGL00587
Quality Score
Status
Chromosome1
Chromosomal Location186720978-186749358 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to C at 186721548 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001339]
Predicted Effect probably null
Transcript: ENSMUST00000001339
SMART Domains Protein: ENSMUSP00000001339
Gene: ENSMUSG00000001305

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
low complexity region 43 69 N/A INTRINSIC
low complexity region 72 86 N/A INTRINSIC
Pfam:Rrp15p 92 215 3e-32 PFAM
low complexity region 264 279 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162336
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein similar to budding yeast Rrp15p. Rrp15p is a component of pre-60S ribosomal particles in budding yeast, and is required for the early maturation steps of the 60S subunit. The mouse genome contains at least one pseudogene on the X chromosome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo2 A C 15: 97,245,446 M365R possibly damaging Het
Atat1 T C 17: 35,897,883 D352G probably benign Het
Bbs12 A G 3: 37,320,197 T265A probably damaging Het
Cd300c A T 11: 114,959,790 N62K probably benign Het
Cdk5rap3 A G 11: 96,913,399 S43P probably damaging Het
Chchd6 A T 6: 89,569,417 probably null Het
Cr2 C T 1: 195,154,251 R868Q possibly damaging Het
Cyp2d9 T C 15: 82,455,143 S126P possibly damaging Het
Dsg3 T A 18: 20,539,654 I794N probably damaging Het
Fga A T 3: 83,030,289 S158C possibly damaging Het
Gm14240 T C 2: 156,052,950 probably null Het
Itga1 C A 13: 115,012,249 V279L probably damaging Het
Kdm1b T C 13: 47,068,540 V485A probably benign Het
Mfap3l T C 8: 60,671,909 V395A probably benign Het
Nlrp14 T A 7: 107,181,767 V57E probably benign Het
P2ry12 A T 3: 59,217,882 I124K probably damaging Het
Paxip1 A G 5: 27,772,552 probably benign Het
Prkdc T C 16: 15,652,358 probably benign Het
Rab28 T C 5: 41,703,456 R52G probably benign Het
Sel1l2 G A 2: 140,243,944 L539F possibly damaging Het
Ticam2 T C 18: 46,560,813 E69G probably benign Het
Zcchc2 T A 1: 106,030,263 S821R probably benign Het
Zcchc4 T A 5: 52,816,169 S379T probably benign Het
Zfp53 T C 17: 21,508,338 V211A probably benign Het
Zmym2 T G 14: 56,903,360 S219A possibly damaging Het
Other mutations in Rrp15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02285:Rrp15 APN 1 186721395 utr 3 prime probably benign
R0413:Rrp15 UTSW 1 186749149 splice site probably benign
R0548:Rrp15 UTSW 1 186736234 missense probably benign 0.01
R1449:Rrp15 UTSW 1 186736268 missense possibly damaging 0.61
R1966:Rrp15 UTSW 1 186736205 missense possibly damaging 0.46
R5318:Rrp15 UTSW 1 186721546 missense probably benign 0.00
R5982:Rrp15 UTSW 1 186739755 missense possibly damaging 0.93
R6287:Rrp15 UTSW 1 186749176 missense probably benign 0.12
R6396:Rrp15 UTSW 1 186737586 critical splice donor site probably null
R7176:Rrp15 UTSW 1 186721533 missense probably benign 0.02
Posted On2012-04-20