Incidental Mutation 'IGL03181:Rrp1b'
ID 412260
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrp1b
Ensembl Gene ENSMUSG00000058392
Gene Name ribosomal RNA processing 1B
Synonyms 2600005C20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03181
Quality Score
Status
Chromosome 17
Chromosomal Location 32255087-32281839 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32276150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 566 (I566F)
Ref Sequence ENSEMBL: ENSMUSP00000080085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081339] [ENSMUST00000150469]
AlphaFold Q91YK2
Predicted Effect probably benign
Transcript: ENSMUST00000081339
AA Change: I566F

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000080085
Gene: ENSMUSG00000058392
AA Change: I566F

DomainStartEndE-ValueType
Pfam:Nop52 10 218 3.3e-73 PFAM
low complexity region 344 352 N/A INTRINSIC
low complexity region 376 384 N/A INTRINSIC
low complexity region 450 463 N/A INTRINSIC
low complexity region 483 496 N/A INTRINSIC
low complexity region 694 706 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150469
SMART Domains Protein: ENSMUSP00000117400
Gene: ENSMUSG00000058392

DomainStartEndE-ValueType
low complexity region 96 107 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably damaging Het
Other mutations in Rrp1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Rrp1b APN 17 32,271,793 (GRCm39) missense probably benign 0.09
IGL01383:Rrp1b APN 17 32,277,552 (GRCm39) missense probably damaging 0.99
IGL02740:Rrp1b APN 17 32,278,305 (GRCm39) missense probably damaging 1.00
IGL03030:Rrp1b APN 17 32,275,875 (GRCm39) missense probably damaging 1.00
IGL03396:Rrp1b APN 17 32,276,237 (GRCm39) splice site probably benign
IGL02980:Rrp1b UTSW 17 32,269,013 (GRCm39) missense possibly damaging 0.49
R0138:Rrp1b UTSW 17 32,279,426 (GRCm39) missense probably benign 0.24
R0394:Rrp1b UTSW 17 32,277,538 (GRCm39) missense probably benign 0.34
R0681:Rrp1b UTSW 17 32,279,369 (GRCm39) missense probably damaging 1.00
R1315:Rrp1b UTSW 17 32,275,613 (GRCm39) missense probably benign 0.00
R1351:Rrp1b UTSW 17 32,275,611 (GRCm39) missense possibly damaging 0.82
R1700:Rrp1b UTSW 17 32,276,178 (GRCm39) missense probably benign 0.19
R1815:Rrp1b UTSW 17 32,275,785 (GRCm39) missense probably benign
R1940:Rrp1b UTSW 17 32,275,819 (GRCm39) missense possibly damaging 0.95
R2176:Rrp1b UTSW 17 32,275,534 (GRCm39) missense probably benign 0.00
R2352:Rrp1b UTSW 17 32,278,302 (GRCm39) missense possibly damaging 0.71
R2975:Rrp1b UTSW 17 32,277,547 (GRCm39) missense probably damaging 1.00
R4552:Rrp1b UTSW 17 32,274,984 (GRCm39) splice site probably benign
R5114:Rrp1b UTSW 17 32,255,445 (GRCm39) utr 5 prime probably benign
R5242:Rrp1b UTSW 17 32,270,677 (GRCm39) missense possibly damaging 0.82
R5647:Rrp1b UTSW 17 32,274,985 (GRCm39) splice site probably benign
R5739:Rrp1b UTSW 17 32,264,950 (GRCm39) missense probably damaging 1.00
R5853:Rrp1b UTSW 17 32,275,658 (GRCm39) missense possibly damaging 0.49
R5878:Rrp1b UTSW 17 32,266,649 (GRCm39) missense probably damaging 1.00
R6389:Rrp1b UTSW 17 32,275,601 (GRCm39) missense possibly damaging 0.55
R6734:Rrp1b UTSW 17 32,274,278 (GRCm39) intron probably benign
R6742:Rrp1b UTSW 17 32,275,908 (GRCm39) missense probably benign
R6759:Rrp1b UTSW 17 32,276,063 (GRCm39) missense probably benign 0.01
R6855:Rrp1b UTSW 17 32,271,719 (GRCm39) missense probably benign 0.00
R7014:Rrp1b UTSW 17 32,268,401 (GRCm39) missense probably damaging 1.00
R7315:Rrp1b UTSW 17 32,277,545 (GRCm39) missense probably benign 0.03
R7689:Rrp1b UTSW 17 32,274,900 (GRCm39) missense probably benign 0.38
R7834:Rrp1b UTSW 17 32,270,698 (GRCm39) missense probably benign 0.00
R7993:Rrp1b UTSW 17 32,277,541 (GRCm39) missense probably damaging 0.98
R8272:Rrp1b UTSW 17 32,276,163 (GRCm39) missense probably benign
R8371:Rrp1b UTSW 17 32,268,458 (GRCm39) missense possibly damaging 0.66
R8885:Rrp1b UTSW 17 32,270,688 (GRCm39) missense possibly damaging 0.87
Posted On 2016-08-02