Incidental Mutation 'IGL03403:Rrn3'
ID 421493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrn3
Ensembl Gene ENSMUSG00000022682
Gene Name RRN3 RNA polymerase I transcription factor homolog (yeast)
Synonyms TIF-1A, E130302O19Rik
Accession Numbers

Genbank: NM_001039521; MGI: 1925255

Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03403
Quality Score
Status
Chromosome 16
Chromosomal Location 13780708-13814839 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 13799945 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 351 (K351*)
Ref Sequence ENSEMBL: ENSMUSP00000023363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023363]
AlphaFold B2RS91
Predicted Effect probably null
Transcript: ENSMUST00000023363
AA Change: K351*
SMART Domains Protein: ENSMUSP00000023363
Gene: ENSMUSG00000022682
AA Change: K351*

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
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A C 15: 8,201,342 (GRCm38) K1034N probably damaging Het
Adamts12 T A 15: 11,241,488 (GRCm38) I382N probably damaging Het
Adamts5 T C 16: 85,863,014 (GRCm38) T797A probably damaging Het
Ahr A T 12: 35,504,326 (GRCm38) V598E possibly damaging Het
Akap10 A G 11: 61,915,273 (GRCm38) S210P probably benign Het
Asb5 G T 8: 54,583,547 (GRCm38) probably benign Het
AU041133 T C 10: 82,138,344 (GRCm38) V31A probably damaging Het
Bcar3 T C 3: 122,512,969 (GRCm38) V197A probably benign Het
Bptf A G 11: 107,099,733 (GRCm38) V510A possibly damaging Het
Ccar2 A T 14: 70,140,068 (GRCm38) D712E probably damaging Het
Cenpt G A 8: 105,849,665 (GRCm38) Q85* probably null Het
Ciita C A 16: 10,503,872 (GRCm38) H98N probably damaging Het
Csn1s1 T A 5: 87,667,293 (GRCm38) M16K probably benign Het
Fah A G 7: 84,593,209 (GRCm38) I297T probably damaging Het
Fbxo25 A G 8: 13,929,423 (GRCm38) N214D probably benign Het
Frem3 A C 8: 80,611,090 (GRCm38) D4A probably benign Het
Gm12800 T C 4: 101,909,928 (GRCm38) S125P probably benign Het
Gm3409 A G 5: 146,539,524 (GRCm38) K162E probably benign Het
Gxylt1 T C 15: 93,261,775 (GRCm38) D148G possibly damaging Het
Hoxd4 A T 2: 74,728,337 (GRCm38) E168V possibly damaging Het
Ifna6 A G 4: 88,827,458 (GRCm38) S15G possibly damaging Het
Iqck T A 7: 118,876,271 (GRCm38) H97Q probably benign Het
Kif16b T A 2: 142,711,869 (GRCm38) E1003V probably damaging Het
Lrp1b G A 2: 40,702,824 (GRCm38) P3761L probably benign Het
Mc4r C T 18: 66,859,526 (GRCm38) C172Y possibly damaging Het
Olfr373 A G 8: 72,100,497 (GRCm38) T246A probably benign Het
Oosp1 T A 19: 11,687,380 (GRCm38) N104I probably damaging Het
Pram1 A T 17: 33,642,143 (GRCm38) I513F probably damaging Het
Rasef A G 4: 73,734,534 (GRCm38) S577P probably damaging Het
Rfx8 T C 1: 39,690,173 (GRCm38) D144G possibly damaging Het
Rreb1 A C 13: 37,929,574 (GRCm38) N303T possibly damaging Het
Sox30 A T 11: 46,017,208 (GRCm38) E734V probably damaging Het
Spns1 C T 7: 126,371,536 (GRCm38) probably null Het
Tgfbr2 T A 9: 116,110,302 (GRCm38) E177D probably benign Het
Tnfaip8l3 A G 9: 54,027,457 (GRCm38) M78T possibly damaging Het
Vmn2r92 C T 17: 18,166,852 (GRCm38) T151I probably damaging Het
Wwc1 A G 11: 35,915,284 (GRCm38) Y41H possibly damaging Het
Zfp407 A T 18: 84,560,797 (GRCm38) N730K probably damaging Het
Other mutations in Rrn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Rrn3 APN 16 13,809,062 (GRCm38) missense probably damaging 1.00
IGL02507:Rrn3 APN 16 13,788,857 (GRCm38) missense probably benign
IGL02607:Rrn3 APN 16 13,806,563 (GRCm38) missense possibly damaging 0.65
IGL02648:Rrn3 APN 16 13,811,589 (GRCm38) missense probably benign
IGL03217:Rrn3 APN 16 13,809,011 (GRCm38) missense possibly damaging 0.83
11287:Rrn3 UTSW 16 13,800,019 (GRCm38) splice site probably null
ANU74:Rrn3 UTSW 16 13,811,533 (GRCm38) missense possibly damaging 0.65
R0013:Rrn3 UTSW 16 13,813,113 (GRCm38) missense possibly damaging 0.92
R0013:Rrn3 UTSW 16 13,813,113 (GRCm38) missense possibly damaging 0.92
R0308:Rrn3 UTSW 16 13,799,882 (GRCm38) splice site probably benign
R1970:Rrn3 UTSW 16 13,789,074 (GRCm38) missense probably damaging 1.00
R3712:Rrn3 UTSW 16 13,784,095 (GRCm38) nonsense probably null
R3959:Rrn3 UTSW 16 13,782,100 (GRCm38) critical splice donor site probably null
R4343:Rrn3 UTSW 16 13,784,122 (GRCm38) missense probably benign 0.01
R4678:Rrn3 UTSW 16 13,796,076 (GRCm38) missense probably damaging 1.00
R4920:Rrn3 UTSW 16 13,790,639 (GRCm38) missense probably benign 0.01
R4925:Rrn3 UTSW 16 13,799,972 (GRCm38) missense probably damaging 1.00
R5225:Rrn3 UTSW 16 13,792,934 (GRCm38) splice site probably null
R5469:Rrn3 UTSW 16 13,813,100 (GRCm38) missense probably benign 0.01
R5702:Rrn3 UTSW 16 13,813,266 (GRCm38) nonsense probably null
R6059:Rrn3 UTSW 16 13,806,604 (GRCm38) missense probably benign
R6425:Rrn3 UTSW 16 13,811,601 (GRCm38) missense probably benign 0.00
R7582:Rrn3 UTSW 16 13,810,511 (GRCm38) nonsense probably null
R7814:Rrn3 UTSW 16 13,811,589 (GRCm38) missense probably benign
R8332:Rrn3 UTSW 16 13,798,620 (GRCm38) missense possibly damaging 0.61
R9315:Rrn3 UTSW 16 13,788,826 (GRCm38) missense probably benign 0.00
R9752:Rrn3 UTSW 16 13,813,231 (GRCm38) missense probably benign
R9757:Rrn3 UTSW 16 13,810,569 (GRCm38) missense probably damaging 0.96
Z1176:Rrn3 UTSW 16 13,813,156 (GRCm38) missense probably damaging 1.00
Z1177:Rrn3 UTSW 16 13,788,846 (GRCm38) missense possibly damaging 0.93
Posted On 2016-08-02