Incidental Mutation 'IGL02648:Rrn3'
ID 302029
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
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02648
Quality Score
Status
Chromosome 16
Chromosomal Location 13598572-13632703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13629453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 590 (F590L)
Ref Sequence ENSEMBL: ENSMUSP00000023363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023363]
AlphaFold B2RS91
Predicted Effect probably benign
Transcript: ENSMUST00000023363
AA Change: F590L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023363
Gene: ENSMUSG00000022682
AA Change: F590L

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,344,392 (GRCm39) probably null Het
Acp4 A G 7: 43,904,414 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,659,738 (GRCm39) M1997K probably benign Het
Arhgdib T C 6: 136,910,647 (GRCm39) D38G probably damaging Het
Bbox1 T G 2: 110,135,871 (GRCm39) D36A probably damaging Het
Cacna1c T C 6: 118,734,457 (GRCm39) K104R probably damaging Het
Cacna1i G A 15: 80,182,839 (GRCm39) C75Y probably damaging Het
Ccdc14 T C 16: 34,517,528 (GRCm39) L70S probably damaging Het
Ccdc88a T G 11: 29,451,051 (GRCm39) V1580G probably benign Het
Cdadc1 C A 14: 59,823,812 (GRCm39) D227Y probably damaging Het
Chd3 T C 11: 69,242,976 (GRCm39) Y1415C probably damaging Het
Cngb3 A G 4: 19,428,489 (GRCm39) N493S probably benign Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Gm10549 C A 18: 33,597,303 (GRCm39) probably benign Het
Greb1 C T 12: 16,758,683 (GRCm39) V678M probably damaging Het
Gucy2c G A 6: 136,706,211 (GRCm39) R497* probably null Het
Itgad T C 7: 127,782,546 (GRCm39) probably benign Het
Lgr4 C A 2: 109,842,718 (GRCm39) T877K probably damaging Het
Lrig3 A G 10: 125,802,463 (GRCm39) D40G probably benign Het
Myo3b T C 2: 69,935,716 (GRCm39) probably benign Het
Neb A G 2: 52,161,093 (GRCm39) Y2193H possibly damaging Het
Or4b1 T A 2: 89,979,697 (GRCm39) I218F possibly damaging Het
Or8b3b T C 9: 38,584,312 (GRCm39) M143V probably benign Het
Pard6b A G 2: 167,940,847 (GRCm39) Q278R probably benign Het
Pate10 A T 9: 35,652,405 (GRCm39) M21L probably benign Het
Pkd2l1 T C 19: 44,143,975 (GRCm39) Y366C possibly damaging Het
Prl2c1 A G 13: 28,041,542 (GRCm39) D188G probably benign Het
Prl3a1 G T 13: 27,454,218 (GRCm39) M65I probably benign Het
Psg26 T A 7: 18,216,691 (GRCm39) E49D probably benign Het
Rapgef3 G A 15: 97,656,273 (GRCm39) R38W probably damaging Het
Serpina12 T C 12: 104,004,267 (GRCm39) K122E probably benign Het
Slc39a6 T C 18: 24,715,424 (GRCm39) I699V probably damaging Het
Tmem259 G A 10: 79,813,651 (GRCm39) P443S probably damaging Het
Vmn1r75 T A 7: 11,615,091 (GRCm39) F274L probably benign 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
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
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
Posted On 2015-04-16