Incidental Mutation 'R1165:Rrs1'
ID218847
Institutional Source Beutler Lab
Gene Symbol Rrs1
Ensembl Gene ENSMUSG00000061024
Gene Nameribosome biogenesis regulator 1
Synonyms5730466A07Rik, D1Ertd701e
MMRRC Submission 039238-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1165 (G1)
Quality Score25
Status Validated
Chromosome1
Chromosomal Location9545408-9547455 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 9545767 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 82 (E82K)
Ref Sequence ENSEMBL: ENSMUSP00000071955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027044] [ENSMUST00000072079] [ENSMUST00000130927] [ENSMUST00000144177] [ENSMUST00000186467]
Predicted Effect probably benign
Transcript: ENSMUST00000027044
Predicted Effect probably damaging
Transcript: ENSMUST00000072079
AA Change: E82K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024
AA Change: E82K

DomainStartEndE-ValueType
low complexity region 7 22 N/A INTRINSIC
Pfam:RRS1 31 193 3.5e-62 PFAM
low complexity region 302 337 N/A INTRINSIC
low complexity region 351 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130927
Predicted Effect probably benign
Transcript: ENSMUST00000144177
SMART Domains Protein: ENSMUSP00000116627
Gene: ENSMUSG00000025911

DomainStartEndE-ValueType
Pfam:Fe-ADH 50 454 2.1e-105 PFAM
Pfam:Fe-ADH_2 53 155 6.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186467
Predicted Effect probably benign
Transcript: ENSMUST00000190654
Meta Mutation Damage Score 0.2736 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1520401A03Rik A C 17: 23,710,515 probably benign Het
2210408I21Rik T G 13: 77,334,287 C1209G probably benign Het
Abcg2 C A 6: 58,678,300 L407I probably benign Het
Adtrp A G 13: 41,814,303 V56A probably damaging Het
Angptl6 T G 9: 20,878,308 N96T probably benign Het
Ank3 C A 10: 69,898,302 N780K possibly damaging Het
AU040320 A T 4: 126,823,640 probably benign Het
Best2 C T 8: 85,011,160 R202H probably benign Het
Bod1l A T 5: 41,821,053 S973T probably benign Het
Brca2 T A 5: 150,542,747 V1992E probably damaging Het
Casp8ap2 C T 4: 32,640,563 P539L probably benign Het
Ccr1 A T 9: 123,963,494 V333E possibly damaging Het
Celf5 A T 10: 81,471,338 V83E probably damaging Het
Col15a1 T C 4: 47,257,275 probably benign Het
Coro1b C A 19: 4,149,902 H81N probably damaging Het
Cwc22 A T 2: 77,903,898 S686T probably damaging Het
Cyp2d26 C A 15: 82,794,041 G45W probably damaging Het
Dysf T A 6: 84,067,069 N297K probably damaging Het
Edem1 T A 6: 108,851,253 L513Q probably damaging Het
Erich1 G A 8: 14,090,530 probably benign Het
Fam196b A G 11: 34,402,740 T261A probably benign Het
Fam91a1 T C 15: 58,430,669 V286A possibly damaging Het
Fdxr C A 11: 115,271,782 probably benign Het
Gas7 T C 11: 67,670,686 probably benign Het
Glb1l2 T C 9: 26,794,101 D151G probably damaging Het
Gm14410 A C 2: 177,193,489 Y327* probably null Het
H6pd A G 4: 149,995,956 I136T possibly damaging Het
Hectd1 A T 12: 51,764,164 probably benign Het
Hipk1 T C 3: 103,761,524 T519A possibly damaging Het
Hpd A G 5: 123,176,090 probably null Het
Olfr371 T A 8: 85,230,771 I92N probably damaging Het
Olfr809 A G 10: 129,776,433 D188G probably damaging Het
Pcdha11 A G 18: 37,007,704 probably benign Het
Pdgfrb T C 18: 61,064,002 I170T probably benign Het
Rasgrp1 A T 2: 117,284,939 F723I possibly damaging Het
Retnlg A G 16: 48,873,654 T58A possibly damaging Het
Rtel1 A G 2: 181,334,939 K243E probably benign Het
Slc19a2 G A 1: 164,263,445 G274D probably damaging Het
Slc22a27 T C 19: 7,909,694 probably null Het
Slc6a1 T C 6: 114,311,829 F266L probably damaging Het
Snx25 T G 8: 46,035,715 I868L probably damaging Het
Spag16 A G 1: 69,996,877 I355V probably benign Het
Tmem198 A T 1: 75,479,932 probably benign Het
Traf3ip3 A C 1: 193,184,478 S349A probably damaging Het
Trim17 A G 11: 58,971,215 N358D possibly damaging Het
Trmu A G 15: 85,892,674 T196A probably damaging Het
Tsen2 A G 6: 115,561,435 Y291C probably damaging Het
Vps13d A G 4: 145,126,471 F2358L probably benign Het
Wnt2 T C 6: 17,989,947 H317R probably benign Het
Zfp120 A T 2: 150,119,929 V33E probably damaging Het
Zfp407 C T 18: 84,559,773 A1072T probably benign Het
Other mutations in Rrs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03098:Rrs1 UTSW 1 9546103 frame shift probably null
PIT1430001:Rrs1 UTSW 1 9545925 missense probably damaging 1.00
R0207:Rrs1 UTSW 1 9545767 missense probably damaging 0.96
R0207:Rrs1 UTSW 1 9545762 unclassified probably null
R0577:Rrs1 UTSW 1 9545801 unclassified probably null
R1222:Rrs1 UTSW 1 9545855 missense probably benign 0.00
R1238:Rrs1 UTSW 1 9545801 unclassified probably null
R1397:Rrs1 UTSW 1 9545767 missense probably damaging 0.96
R1598:Rrs1 UTSW 1 9545912 missense probably benign 0.15
R2338:Rrs1 UTSW 1 9545801 unclassified probably null
R4280:Rrs1 UTSW 1 9546139 missense probably damaging 0.96
R4287:Rrs1 UTSW 1 9546223 missense possibly damaging 0.82
R4287:Rrs1 UTSW 1 9546215 missense probably damaging 1.00
R4298:Rrs1 UTSW 1 9546223 missense possibly damaging 0.82
R4326:Rrs1 UTSW 1 9546341 missense possibly damaging 0.95
R4475:Rrs1 UTSW 1 9545585 missense probably damaging 1.00
R4566:Rrs1 UTSW 1 9546227 missense probably damaging 1.00
R4986:Rrs1 UTSW 1 9545767 missense probably damaging 0.96
R6597:Rrs1 UTSW 1 9546376 missense probably damaging 0.98
R7529:Rrs1 UTSW 1 9546192 missense probably benign
R7728:Rrs1 UTSW 1 9546398 missense possibly damaging 0.78
Predicted Primers
Posted On2014-08-21