Incidental Mutation 'R4326:Rrs1'
ID 371150
Institutional Source Beutler Lab
Gene Symbol Rrs1
Ensembl Gene ENSMUSG00000061024
Gene Name ribosome biogenesis regulator 1
Synonyms D1Ertd701e, 5730466A07Rik
MMRRC Submission 041096-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4326 (G1)
Quality Score 31
Status Validated
Chromosome 1
Chromosomal Location 9615633-9617680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 9616566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 273 (R273L)
Ref Sequence ENSEMBL: ENSMUSP00000071955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027044] [ENSMUST00000072079] [ENSMUST00000130927] [ENSMUST00000144177] [ENSMUST00000186467]
AlphaFold Q9CYH6
Predicted Effect probably benign
Transcript: ENSMUST00000027044
Predicted Effect possibly damaging
Transcript: ENSMUST00000072079
AA Change: R273L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024
AA Change: R273L

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 0.1014 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A G 3: 121,555,119 (GRCm39) V616A probably benign Het
Abhd17a A G 10: 80,419,884 (GRCm39) S241P probably benign Het
Adamts15 T C 9: 30,815,814 (GRCm39) S681G probably benign Het
Arap2 A T 5: 62,779,206 (GRCm39) H1461Q possibly damaging Het
Armc3 A G 2: 19,305,284 (GRCm39) K681E probably damaging Het
Arrdc5 T C 17: 56,601,420 (GRCm39) E235G possibly damaging Het
Atxn1 T C 13: 46,119,443 (GRCm39) probably benign Het
C9orf72 T A 4: 35,225,985 (GRCm39) probably benign Het
Capn13 C A 17: 73,638,103 (GRCm39) K433N probably benign Het
Ccdc113 G A 8: 96,283,896 (GRCm39) M323I probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Cyp2j8 T A 4: 96,395,566 (GRCm39) T20S probably benign Het
Dnah8 G A 17: 30,971,066 (GRCm39) V2707M probably benign Het
Erlec1 C T 11: 30,899,972 (GRCm39) E166K probably benign Het
Fastkd2 A G 1: 63,791,516 (GRCm39) K675E probably benign Het
Gid4 G A 11: 60,308,662 (GRCm39) V61M possibly damaging Het
Glt28d2 G A 3: 85,779,393 (GRCm39) Q27* probably null Het
Ipo8 A T 6: 148,701,662 (GRCm39) probably benign Het
Isx A G 8: 75,600,284 (GRCm39) I6V probably benign Het
Itsn1 A G 16: 91,650,743 (GRCm39) probably benign Het
Klhl40 A G 9: 121,607,956 (GRCm39) D372G probably benign Het
Krt80 C T 15: 101,250,189 (GRCm39) V19M possibly damaging Het
Lingo2 T A 4: 35,708,462 (GRCm39) D506V probably damaging Het
Lmo7 A T 14: 102,137,510 (GRCm39) E504D possibly damaging Het
Lpcat4 G A 2: 112,076,737 (GRCm39) E454K probably benign Het
Macf1 C T 4: 123,276,005 (GRCm39) A4176T probably damaging Het
Noxo1 G A 17: 24,917,937 (GRCm39) R81H probably benign Het
Or10ab4 T C 7: 107,654,362 (GRCm39) Y58H probably damaging Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Pafah1b1 T C 11: 74,573,066 (GRCm39) T333A probably benign Het
Pak1ip1 A G 13: 41,158,232 (GRCm39) D35G possibly damaging Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Pcdhb9 A T 18: 37,534,875 (GRCm39) S290C probably benign Het
Pcdhb9 G T 18: 37,534,876 (GRCm39) S290I probably benign Het
Ppp2r2d T A 7: 138,470,214 (GRCm39) V25D probably damaging Het
Prdm15 G T 16: 97,607,715 (GRCm39) N709K probably damaging Het
Ptprs C A 17: 56,754,468 (GRCm39) A191S possibly damaging Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Slc13a1 A G 6: 24,103,478 (GRCm39) V355A probably benign Het
Spen T G 4: 141,204,683 (GRCm39) N1315H unknown Het
Ssrp1 A G 2: 84,870,561 (GRCm39) probably benign Het
St7 G A 6: 17,819,287 (GRCm39) V64M probably damaging Het
Syne2 C A 12: 75,999,516 (GRCm39) A2304E probably damaging Het
Tcf25 T A 8: 124,127,882 (GRCm39) L622* probably null Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tmem62 T A 2: 120,810,991 (GRCm39) N156K probably damaging Het
Wdr90 G T 17: 26,072,705 (GRCm39) R884S probably benign Het
Zfp184 T C 13: 22,144,072 (GRCm39) Y593H probably damaging Het
Zfp934 T G 13: 62,665,373 (GRCm39) N312H probably benign Het
Zfta A G 19: 7,398,591 (GRCm39) probably benign Het
Other mutations in Rrs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03098:Rrs1 UTSW 1 9,616,328 (GRCm39) frame shift probably null
PIT1430001:Rrs1 UTSW 1 9,616,150 (GRCm39) missense probably damaging 1.00
R0207:Rrs1 UTSW 1 9,615,992 (GRCm39) missense probably damaging 0.96
R0207:Rrs1 UTSW 1 9,615,987 (GRCm39) splice site probably null
R0577:Rrs1 UTSW 1 9,616,026 (GRCm39) splice site probably null
R1165:Rrs1 UTSW 1 9,615,992 (GRCm39) missense probably damaging 0.96
R1222:Rrs1 UTSW 1 9,616,080 (GRCm39) missense probably benign 0.00
R1238:Rrs1 UTSW 1 9,616,026 (GRCm39) splice site probably null
R1397:Rrs1 UTSW 1 9,615,992 (GRCm39) missense probably damaging 0.96
R1598:Rrs1 UTSW 1 9,616,137 (GRCm39) missense probably benign 0.15
R2338:Rrs1 UTSW 1 9,616,026 (GRCm39) splice site probably null
R4280:Rrs1 UTSW 1 9,616,364 (GRCm39) missense probably damaging 0.96
R4287:Rrs1 UTSW 1 9,616,448 (GRCm39) missense possibly damaging 0.82
R4287:Rrs1 UTSW 1 9,616,440 (GRCm39) missense probably damaging 1.00
R4298:Rrs1 UTSW 1 9,616,448 (GRCm39) missense possibly damaging 0.82
R4475:Rrs1 UTSW 1 9,615,810 (GRCm39) missense probably damaging 1.00
R4566:Rrs1 UTSW 1 9,616,452 (GRCm39) missense probably damaging 1.00
R4986:Rrs1 UTSW 1 9,615,992 (GRCm39) missense probably damaging 0.96
R6597:Rrs1 UTSW 1 9,616,601 (GRCm39) missense probably damaging 0.98
R7529:Rrs1 UTSW 1 9,616,417 (GRCm39) missense probably benign
R7728:Rrs1 UTSW 1 9,616,623 (GRCm39) missense possibly damaging 0.78
R8134:Rrs1 UTSW 1 9,615,645 (GRCm39) unclassified probably benign
R8799:Rrs1 UTSW 1 9,615,819 (GRCm39) missense probably damaging 1.00
R9060:Rrs1 UTSW 1 9,616,677 (GRCm39) missense probably damaging 1.00
R9360:Rrs1 UTSW 1 9,616,845 (GRCm39) makesense probably null
R9609:Rrs1 UTSW 1 9,616,518 (GRCm39) missense probably benign 0.30
R9685:Rrs1 UTSW 1 9,616,390 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- AAGATGCAGATGCCCAGCTC -3'
(R):5'- TGCCAGCTAAAGCAGAAGGC -3'

Sequencing Primer
(F):5'- GCCTGCACCCTACTGGACAC -3'
(R):5'- AGGAATGCTTTTTGCTTCCCAAG -3'
Posted On 2016-02-26