Incidental Mutation 'R0013:Rrn3'
ID 32666
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 038308-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0013 (G1)
Quality Score 175
Status Validated
Chromosome 16
Chromosomal Location 13598572-13632703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13630977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 604 (D604E)
Ref Sequence ENSEMBL: ENSMUSP00000023363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023363]
AlphaFold B2RS91
Predicted Effect possibly damaging
Transcript: ENSMUST00000023363
AA Change: D604E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023363
Gene: ENSMUSG00000022682
AA Change: D604E

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
Meta Mutation Damage Score 0.1523 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 94% (79/84)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A G 10: 76,293,346 (GRCm39) M156V probably benign Het
Adnp2 A T 18: 80,172,960 (GRCm39) V483D probably damaging Het
Aff1 G T 5: 103,976,350 (GRCm39) E491* probably null Het
Agl A T 3: 116,570,257 (GRCm39) C911* probably null Het
Akt2 A G 7: 27,335,483 (GRCm39) D284G probably damaging Het
Alox15 A G 11: 70,240,461 (GRCm39) M240T possibly damaging Het
Antxr2 A G 5: 98,127,844 (GRCm39) V229A probably damaging Het
Arap2 G A 5: 62,840,827 (GRCm39) L680F probably damaging Het
Btaf1 A G 19: 36,935,773 (GRCm39) T188A probably benign Het
Btnl6 G A 17: 34,734,505 (GRCm39) Q86* probably null Het
C2cd3 T A 7: 100,065,269 (GRCm39) L685H probably damaging Het
Cdh23 T C 10: 60,248,952 (GRCm39) T878A possibly damaging Het
Clec4b2 T C 6: 123,179,108 (GRCm39) Y137H probably damaging Het
Dchs1 T A 7: 105,405,043 (GRCm39) T2500S possibly damaging Het
Def6 A G 17: 28,436,066 (GRCm39) Y75C probably damaging Het
Dhx33 A T 11: 70,884,461 (GRCm39) F448L probably damaging Het
Dner C T 1: 84,472,614 (GRCm39) probably benign Het
Dnmbp G A 19: 43,890,670 (GRCm39) P366S probably benign Het
Eif4g3 T C 4: 137,903,159 (GRCm39) C1160R possibly damaging Het
Elmod1 G A 9: 53,820,185 (GRCm39) probably benign Het
Faah C A 4: 115,861,588 (GRCm39) L305F probably damaging Het
Flt1 A G 5: 147,507,824 (GRCm39) probably benign Het
Fyco1 A T 9: 123,651,471 (GRCm39) N1196K probably benign Het
Galnt18 T C 7: 111,153,664 (GRCm39) N320S probably damaging Het
Garin3 A G 11: 46,297,631 (GRCm39) T312A unknown Het
Glp2r C A 11: 67,600,538 (GRCm39) G437V possibly damaging Het
Gm4884 T C 7: 40,693,716 (GRCm39) S562P probably damaging Het
Gm9936 A G 5: 114,995,408 (GRCm39) probably benign Het
Gpn2 C A 4: 133,312,103 (GRCm39) P112T probably damaging Het
Grm4 A G 17: 27,650,549 (GRCm39) Y816H probably benign Het
Helz2 A T 2: 180,882,752 (GRCm39) S14T probably benign Het
Htt T C 5: 34,977,448 (GRCm39) L778P probably benign Het
Il11ra1 T C 4: 41,765,060 (GRCm39) S129P probably damaging Het
Ints11 T C 4: 155,971,625 (GRCm39) F315S probably damaging Het
Itga11 A T 9: 62,683,895 (GRCm39) N1059Y possibly damaging Het
Jak3 A G 8: 72,136,971 (GRCm39) S716G probably damaging Het
Kcns1 G T 2: 164,010,563 (GRCm39) D65E probably benign Het
Kdm5d A T Y: 941,715 (GRCm39) K1305N probably benign Het
Kif26a G T 12: 112,144,314 (GRCm39) V1523L probably benign Het
Mboat7 A G 7: 3,686,821 (GRCm39) S340P probably damaging Het
Mctp2 T C 7: 71,879,156 (GRCm39) I234V probably benign Het
Mex3c G A 18: 73,723,622 (GRCm39) A572T probably benign Het
Mpp3 C A 11: 101,896,251 (GRCm39) R424L probably benign Het
Mroh4 T A 15: 74,480,086 (GRCm39) probably benign Het
Myo9a A T 9: 59,767,489 (GRCm39) probably benign Het
Myog T A 1: 134,217,973 (GRCm39) H60Q probably damaging Het
Nlrp9a T A 7: 26,270,650 (GRCm39) probably null Het
Notch1 A G 2: 26,363,830 (GRCm39) V868A possibly damaging Het
Or10g9b A T 9: 39,917,651 (GRCm39) I198N probably damaging Het
Or1j20 A G 2: 36,760,172 (GRCm39) N198S probably damaging Het
Or1p1 T A 11: 74,179,877 (GRCm39) I135N possibly damaging Het
Or5d18 T C 2: 87,864,610 (GRCm39) Y291C possibly damaging Het
Pink1 T C 4: 138,044,712 (GRCm39) T342A probably benign Het
Plb1 T A 5: 32,506,959 (GRCm39) probably benign Het
Plec T C 15: 76,062,446 (GRCm39) D2524G probably damaging Het
Plekhg4 G T 8: 106,102,028 (GRCm39) E6* probably null Het
Polq T C 16: 36,882,201 (GRCm39) F1455S possibly damaging Het
Ppm1e A G 11: 87,139,884 (GRCm39) probably benign Het
Prkaca G A 8: 84,714,932 (GRCm39) M119I possibly damaging Het
Prss46 G T 9: 110,679,123 (GRCm39) S108I probably damaging Het
Ptma C T 1: 86,457,498 (GRCm39) probably benign Het
Rab11fip4 C T 11: 79,580,479 (GRCm39) T437M probably benign Het
Rngtt T A 4: 33,379,409 (GRCm39) M437K probably benign Het
Scn4a A G 11: 106,239,231 (GRCm39) probably benign Het
Sis A G 3: 72,817,809 (GRCm39) L1468P possibly damaging Het
Slit3 A G 11: 35,598,745 (GRCm39) M1450V probably benign Het
Smg5 T C 3: 88,256,540 (GRCm39) S269P probably benign Het
Sntg1 T C 1: 8,533,686 (GRCm39) T323A probably damaging Het
Son C T 16: 91,448,550 (GRCm39) T37I probably damaging Het
Stk17b T C 1: 53,803,291 (GRCm39) I41M probably benign Het
Tgm5 T A 2: 120,907,363 (GRCm39) Y120F probably damaging Het
Tppp A G 13: 74,169,479 (GRCm39) K73R possibly damaging Het
Ttn C A 2: 76,569,502 (GRCm39) K27130N probably damaging Het
Ttn C T 2: 76,738,096 (GRCm39) V4148I probably benign Het
Tut4 T A 4: 108,388,152 (GRCm39) probably benign Het
Uba7 A T 9: 107,855,448 (GRCm39) Y375F probably damaging Het
Ugcg T C 4: 59,213,931 (GRCm39) L171P possibly damaging Het
Vsig2 T C 9: 37,453,872 (GRCm39) probably benign Het
Zfp839 T A 12: 110,834,820 (GRCm39) S692T possibly 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
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
R4343:Rrn3 UTSW 16 13,601,986 (GRCm39) missense probably benign 0.01
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'- GCAGAGTTTCACTACCCAGCCATC -3'
(R):5'- AAGTCCAACATGGAAGCTGGACAC -3'

Sequencing Primer
(F):5'- TGCTCGTTAGCCACCAAG -3'
(R):5'- GGCCCTGGGAAGAATTGC -3'
Posted On 2013-05-09