Incidental Mutation 'R4343:Rrn3'
ID 324238
Institutional Source Beutler Lab
Gene Symbol Rrn3
Ensembl Gene ENSMUSG00000022682
Gene Name RRN3 RNA polymerase I transcription factor homolog (yeast)
Synonyms TIF-1A, E130302O19Rik
MMRRC Submission 041665-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4343 (G1)
Quality Score 163
Status Not validated
Chromosome 16
Chromosomal Location 13598572-13632703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13601986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 80 (D80G)
Ref Sequence ENSEMBL: ENSMUSP00000023363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023363]
AlphaFold B2RS91
Predicted Effect probably benign
Transcript: ENSMUST00000023363
AA Change: D80G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000023363
Gene: ENSMUSG00000022682
AA Change: D80G

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:RRN3 46 584 7.5e-138 PFAM
low complexity region 597 605 N/A INTRINSIC
low complexity region 631 641 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230102
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, failure to undergo embryonic turning, delayed embryonic development, markedly reduced embryo size, and increased apoptosis. [provided by MGI curators]
Allele List at MGI

All alleles(38) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(36)

Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd38 A C 5: 44,026,431 (GRCm39) I72L probably benign Het
Diras1 T A 10: 80,858,018 (GRCm39) K78* probably null Het
Gm5878 G A 6: 85,102,633 (GRCm39) R31* probably null Het
Gm8674 T A 13: 50,053,742 (GRCm39) noncoding transcript Het
Gnal T C 18: 67,268,659 (GRCm39) S182P probably benign Het
Grik1 T C 16: 87,693,140 (GRCm39) T932A probably benign Het
Igf2r C T 17: 12,928,398 (GRCm39) E982K possibly damaging Het
Lepr G A 4: 101,622,349 (GRCm39) probably null Het
Mical3 C A 6: 120,911,799 (GRCm39) E1083* probably null Het
Mki67 A G 7: 135,296,847 (GRCm39) V2729A probably benign Het
Mmp20 GA GAA 9: 7,628,346 (GRCm39) probably null Het
Myo7b A G 18: 32,116,680 (GRCm39) F976L probably damaging Het
Nfasc A G 1: 132,559,443 (GRCm39) F229S probably damaging Het
Npc1l1 G A 11: 6,167,773 (GRCm39) T1006I probably benign Het
Or5g9 T A 2: 85,552,592 (GRCm39) V281E probably damaging Het
Plekha5 A G 6: 140,501,780 (GRCm39) E656G probably damaging Het
Prep C A 10: 44,996,866 (GRCm39) S381R probably damaging Het
Rab31 C T 17: 65,961,414 (GRCm39) R192H probably benign Het
Rbm5 T C 9: 107,629,395 (GRCm39) D319G probably damaging Het
Rexo2 T C 9: 48,380,148 (GRCm39) E228G possibly damaging Het
Slc38a3 A G 9: 107,533,671 (GRCm39) V224A possibly damaging Het
Slc66a2 A G 18: 80,327,004 (GRCm39) probably benign Het
Sycp2 T C 2: 178,022,740 (GRCm39) T464A probably damaging Het
Tpcn1 A T 5: 120,698,285 (GRCm39) L79H probably damaging Het
Trim30a T C 7: 104,084,799 (GRCm39) Q137R probably benign Het
Tyrp1 A G 4: 80,768,078 (GRCm39) D92G possibly damaging Het
Ugt1a6a T C 1: 88,066,248 (GRCm39) L18P probably damaging Het
Ugt2b5 A T 5: 87,287,582 (GRCm39) V195E probably damaging Het
Zmym2 T A 14: 57,159,019 (GRCm39) M598K probably damaging Het
Other mutations in Rrn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Rrn3 APN 16 13,626,926 (GRCm39) missense probably damaging 1.00
IGL02507:Rrn3 APN 16 13,606,721 (GRCm39) missense probably benign
IGL02607:Rrn3 APN 16 13,624,427 (GRCm39) missense possibly damaging 0.65
IGL02648:Rrn3 APN 16 13,629,453 (GRCm39) missense probably benign
IGL03217:Rrn3 APN 16 13,626,875 (GRCm39) missense possibly damaging 0.83
IGL03403:Rrn3 APN 16 13,617,809 (GRCm39) nonsense probably null
11287:Rrn3 UTSW 16 13,617,883 (GRCm39) splice site probably null
ANU74:Rrn3 UTSW 16 13,629,397 (GRCm39) missense possibly damaging 0.65
R0013:Rrn3 UTSW 16 13,630,977 (GRCm39) missense possibly damaging 0.92
R0013:Rrn3 UTSW 16 13,630,977 (GRCm39) missense possibly damaging 0.92
R0308:Rrn3 UTSW 16 13,617,746 (GRCm39) splice site probably benign
R1970:Rrn3 UTSW 16 13,606,938 (GRCm39) missense probably damaging 1.00
R3712:Rrn3 UTSW 16 13,601,959 (GRCm39) nonsense probably null
R3959:Rrn3 UTSW 16 13,599,964 (GRCm39) critical splice donor site probably null
R4678:Rrn3 UTSW 16 13,613,940 (GRCm39) missense probably damaging 1.00
R4920:Rrn3 UTSW 16 13,608,503 (GRCm39) missense probably benign 0.01
R4925:Rrn3 UTSW 16 13,617,836 (GRCm39) missense probably damaging 1.00
R5225:Rrn3 UTSW 16 13,610,798 (GRCm39) splice site probably null
R5469:Rrn3 UTSW 16 13,630,964 (GRCm39) missense probably benign 0.01
R5702:Rrn3 UTSW 16 13,631,130 (GRCm39) nonsense probably null
R6059:Rrn3 UTSW 16 13,624,468 (GRCm39) missense probably benign
R6425:Rrn3 UTSW 16 13,629,465 (GRCm39) missense probably benign 0.00
R7582:Rrn3 UTSW 16 13,628,375 (GRCm39) nonsense probably null
R7814:Rrn3 UTSW 16 13,629,453 (GRCm39) missense probably benign
R8332:Rrn3 UTSW 16 13,616,484 (GRCm39) missense possibly damaging 0.61
R9315:Rrn3 UTSW 16 13,606,690 (GRCm39) missense probably benign 0.00
R9752:Rrn3 UTSW 16 13,631,095 (GRCm39) missense probably benign
R9757:Rrn3 UTSW 16 13,628,433 (GRCm39) missense probably damaging 0.96
Z1176:Rrn3 UTSW 16 13,631,020 (GRCm39) missense probably damaging 1.00
Z1177:Rrn3 UTSW 16 13,606,710 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GGATATGTAGACGTTTCATGGTTCC -3'
(R):5'- AAGGAGTCCTGCCCTTCAAC -3'

Sequencing Primer
(F):5'- CATGGTTCCTTTTGTAGTTCCATGAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
Posted On 2015-06-24