Incidental Mutation 'IGL01369:Rrp1'
ID76048
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 #IGL01369
Quality Score
Status
Chromosome10
Chromosomal Location78400384-78413043 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) G to A at 78405071 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062678] [ENSMUST00000219374]
Predicted Effect unknown
Transcript: ENSMUST00000062678
AA Change: A278V
SMART Domains Protein: ENSMUSP00000058785
Gene: ENSMUSG00000061032
AA Change: A278V

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: ENSMUST00000217835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219141
Predicted Effect probably benign
Transcript: ENSMUST00000219374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219901
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,437,056 T96A probably damaging Het
Adam34 T A 8: 43,651,057 K517M probably benign Het
Atm A T 9: 53,515,317 I547N probably benign Het
Cadm4 A T 7: 24,499,522 D74V possibly damaging Het
Caprin1 G A 2: 103,768,865 P46S probably damaging Het
Cbl A T 9: 44,201,061 Y112* probably null Het
Ccdc180 T C 4: 45,900,256 V246A probably benign Het
Chd1 A T 17: 15,754,997 E1103V probably damaging Het
Clock G A 5: 76,237,086 P428L probably benign Het
Cntn2 T A 1: 132,516,105 I979F probably benign Het
Col2a1 A G 15: 97,977,826 S1193P unknown Het
Fam205a1 T C 4: 42,852,548 probably null Het
Fga A T 3: 83,030,200 Y128F probably benign Het
Glyr1 A T 16: 5,020,288 D365E probably benign Het
Gm436 T C 4: 144,674,645 T90A possibly damaging Het
Gmppb G A 9: 108,051,247 probably null Het
Gmps A T 3: 64,001,592 H505L probably benign Het
Hexim2 A G 11: 103,138,638 N172S probably benign Het
Hmgcr T C 13: 96,666,522 E65G probably null Het
Hsd17b4 T C 18: 50,172,033 S446P possibly damaging Het
Kirrel3 C T 9: 35,016,441 T382I probably benign Het
Klra7 A T 6: 130,226,535 Y169* probably null Het
Lmbrd1 T C 1: 24,705,974 probably benign Het
Loxhd1 A G 18: 77,329,201 E211G possibly damaging Het
Maf1 T A 15: 76,352,692 F44I probably damaging Het
Mmd2 A G 5: 142,575,229 S84P probably damaging Het
Morc2b T C 17: 33,138,165 E211G probably benign Het
Mov10l1 T C 15: 89,024,837 probably benign Het
Mycbp2 C A 14: 103,155,510 C3205F possibly damaging Het
Myg1 G A 15: 102,334,338 V155M probably benign Het
Ncam2 A G 16: 81,461,571 N247S probably benign Het
Nek11 A G 9: 105,300,060 probably null Het
Nt5dc3 T A 10: 86,820,275 probably benign Het
Nudcd3 A G 11: 6,150,551 Y134H probably damaging Het
Ogfod1 T C 8: 94,063,091 probably null Het
Olfr1451 A T 19: 12,999,761 L258F possibly damaging Het
Orm2 T C 4: 63,362,978 V51A probably benign Het
P2ry14 T C 3: 59,115,335 I244V probably damaging Het
Poll A G 19: 45,553,676 V397A probably damaging Het
Ppdpf C A 2: 181,187,894 probably benign Het
Ptch1 T C 13: 63,511,681 E1249G probably benign Het
Rdh16f1 C A 10: 127,759,975 T13K probably benign Het
Sec14l2 A G 11: 4,103,432 M346T probably benign Het
Sh2d2a A T 3: 87,851,829 Q246L probably benign Het
Slc44a1 G A 4: 53,491,448 D62N probably damaging Het
Snx22 A G 9: 66,068,778 Y58H probably damaging Het
Ttn T A 2: 76,769,435 D19104V probably damaging Het
Ugt2a3 T C 5: 87,327,120 S422G probably damaging Het
Zfyve19 G T 2: 119,210,613 probably benign Het
Other mutations in Rrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02654:Rrp1 APN 10 78412939 missense probably benign 0.11
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 On2013-10-07