Incidental Mutation 'R0577:Rrs1'
ID192606
Institutional Source Beutler Lab
Gene Symbol Rrs1
Ensembl Gene ENSMUSG00000061024
Gene Nameribosome biogenesis regulator 1
Synonyms5730466A07Rik, D1Ertd701e
MMRRC Submission 038767-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0577 (G1)
Quality Score56
Status Validated
Chromosome1
Chromosomal Location9545408-9547455 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to A at 9545801 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116627 (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: P93Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024
AA Change: P93Q

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 null
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 0.5563 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik G T 2: 111,194,349 Q57K probably benign Het
Aars T A 8: 111,043,278 H336Q probably benign Het
Abcc2 A T 19: 43,819,401 D827V probably damaging Het
Asph G T 4: 9,604,620 A139E probably benign Het
Bag3 T C 7: 128,523,887 M10T probably benign Het
Bod1l T C 5: 41,794,887 D2894G probably damaging Het
Cdk12 T C 11: 98,203,506 S47P probably damaging Het
D1Ertd622e C T 1: 97,661,826 probably null Het
Dchs1 C T 7: 105,764,255 V1118I possibly damaging Het
Ddi2 A T 4: 141,684,507 C365S possibly damaging Het
Eef1g A G 19: 8,973,042 D264G probably benign Het
Fbxw17 T C 13: 50,431,583 L274P probably benign Het
Gpc6 A G 14: 117,436,008 T226A probably benign Het
Klf12 T A 14: 100,023,149 Y48F probably damaging Het
Klhdc4 C T 8: 121,821,351 A67T probably damaging Het
Madd C T 2: 91,138,395 E1596K possibly damaging Het
Mov10l1 A G 15: 89,005,727 Y533C probably damaging Het
Mtif2 G T 11: 29,540,862 probably null Het
Mtmr6 G A 14: 60,296,638 V442I possibly damaging Het
Olfr1504 T C 19: 13,887,803 T136A probably damaging Het
Olfr205 A T 16: 59,328,698 D270E probably benign Het
Olfr725 C T 14: 50,034,792 G204R probably damaging Het
Pdcd11 A G 19: 47,098,832 N277S probably benign Het
Pias2 A T 18: 77,097,281 L12F probably damaging Het
Rnf213 G T 11: 119,443,280 R3105L probably damaging Het
Rps11 A G 7: 45,122,850 V111A probably benign Het
Thsd7a T C 6: 12,321,048 T1543A possibly damaging Het
Vmn2r86 C A 10: 130,452,575 R352S probably benign Het
Zfp141 T C 7: 42,476,514 N178S probably benign Het
Zfp955a A T 17: 33,242,094 F355I probably damaging 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 9545762 unclassified probably null
R0207:Rrs1 UTSW 1 9545767 missense probably damaging 0.96
R1165:Rrs1 UTSW 1 9545767 missense probably damaging 0.96
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 9546215 missense probably damaging 1.00
R4287:Rrs1 UTSW 1 9546223 missense possibly damaging 0.82
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 On2014-05-14