Incidental Mutation 'R8412:Nob1'
ID 652748
Institutional Source Beutler Lab
Gene Symbol Nob1
Ensembl Gene ENSMUSG00000003848
Gene Name NIN1/RPN12 binding protein 1 homolog
Synonyms 1700021I09Rik, ART-4, Nob1p, Psmd8bp1
MMRRC Submission 067816-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R8412 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 108139121-108151670 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 108148230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 71 (K71*)
Ref Sequence ENSEMBL: ENSMUSP00000003946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003946] [ENSMUST00000169311]
AlphaFold Q8BW10
PDB Structure Solution Structure of RSGI RUH-035, a Zn-ribbon module in Mouse cDNA [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000003946
AA Change: K71*
SMART Domains Protein: ENSMUSP00000003946
Gene: ENSMUSG00000003848
AA Change: K71*

DomainStartEndE-ValueType
PINc 5 108 2.28e-6 SMART
Pfam:AF1Q 135 211 1.8e-30 PFAM
Pfam:NOB1_Zn_bind 251 323 1e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165266
SMART Domains Protein: ENSMUSP00000129298
Gene: ENSMUSG00000003848

DomainStartEndE-ValueType
Blast:PINc 5 61 9e-34 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000169311
AA Change: K71*
SMART Domains Protein: ENSMUSP00000126868
Gene: ENSMUSG00000003848
AA Change: K71*

DomainStartEndE-ValueType
PINc 5 108 2.28e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik T A 1: 183,765,356 (GRCm39) R234S probably damaging Het
Ace T A 11: 105,870,092 (GRCm39) F806Y probably benign Het
Ak8 A G 2: 28,629,643 (GRCm39) T286A probably benign Het
Apba2 T A 7: 64,395,546 (GRCm39) F674Y probably damaging Het
Apob A G 12: 8,058,069 (GRCm39) I2184V probably benign Het
Arhgap23 C T 11: 97,356,854 (GRCm39) P884L probably benign Het
Atg2a T C 19: 6,294,554 (GRCm39) L90P probably damaging Het
Bhmt2 T A 13: 93,798,820 (GRCm39) I334F possibly damaging Het
Bmi1 C T 2: 18,689,114 (GRCm39) T266I probably damaging Het
Cdh26 A G 2: 178,104,517 (GRCm39) I301V probably damaging Het
Cenpx A T 11: 120,602,558 (GRCm39) H68Q unknown Het
Cnot10 T C 9: 114,439,738 (GRCm39) R524G probably benign Het
Cnpy1 A T 5: 28,414,206 (GRCm39) Y22* probably null Het
Csmd3 C T 15: 47,499,794 (GRCm39) R2114H Het
Defa29 T A 8: 21,816,062 (GRCm39) T102S probably benign Het
Fras1 T C 5: 96,744,711 (GRCm39) I582T probably benign Het
Gm14295 G A 2: 176,501,422 (GRCm39) C304Y probably damaging Het
Gucy2d T C 7: 98,093,046 (GRCm39) V141A possibly damaging Het
Ifi47 A C 11: 48,986,425 (GRCm39) Q64P probably damaging Het
Irx3 G T 8: 92,527,028 (GRCm39) S225R possibly damaging Het
Itpr1 A G 6: 108,340,581 (GRCm39) H289R probably benign Het
Lamc3 A G 2: 31,802,128 (GRCm39) D512G probably damaging Het
Mcm3 C T 1: 20,886,980 (GRCm39) V142I probably benign Het
Med23 C A 10: 24,784,632 (GRCm39) F1200L probably benign Het
Ndst4 A T 3: 125,364,439 (GRCm39) D372V possibly damaging Het
Ntrk3 A G 7: 78,005,897 (GRCm39) I488T probably benign Het
Pds5b G T 5: 150,643,424 (GRCm39) C82F probably damaging Het
Pkd1l3 T A 8: 110,360,022 (GRCm39) V969E possibly damaging Het
Ppme1 A T 7: 99,984,298 (GRCm39) N307K probably benign Het
Pus7l C T 15: 94,425,856 (GRCm39) C515Y probably benign Het
Rpp21 T A 17: 36,568,591 (GRCm39) H22L possibly damaging Het
Scamp3 T C 3: 89,088,525 (GRCm39) F244L probably damaging Het
Scgb1b7 A T 7: 31,412,379 (GRCm39) K52* probably null Het
Slc12a3 T C 8: 95,060,695 (GRCm39) I261T probably damaging Het
Slc19a3 C T 1: 82,992,533 (GRCm39) R396H probably damaging Het
Slc22a14 T C 9: 119,009,922 (GRCm39) I58V probably benign Het
Slc9a9 A C 9: 95,111,092 (GRCm39) T637P probably damaging Het
Snrnp40 T A 4: 130,278,316 (GRCm39) C274S possibly damaging Het
Sptbn1 A G 11: 30,088,457 (GRCm39) V905A probably damaging Het
Taok3 A G 5: 117,404,102 (GRCm39) D759G possibly damaging Het
Tas1r1 T C 4: 152,117,033 (GRCm39) I200M probably benign Het
Tnfrsf25 T C 4: 152,204,139 (GRCm39) V360A possibly damaging Het
Trim12a A T 7: 103,953,544 (GRCm39) M189K possibly damaging Het
Tspan32 T C 7: 142,559,695 (GRCm39) F41L probably benign Het
Tube1 T A 10: 39,021,657 (GRCm39) S301T possibly damaging Het
Usp8 T C 2: 126,584,578 (GRCm39) S596P probably benign Het
Virma T A 4: 11,521,261 (GRCm39) probably null Het
Vmn2r58 T C 7: 41,513,722 (GRCm39) D307G probably benign Het
Zeb2 T C 2: 44,888,964 (GRCm39) K327R probably damaging Het
Zfp54 C T 17: 21,654,910 (GRCm39) T468M probably benign Het
Zfp780b A T 7: 27,662,551 (GRCm39) I668N possibly damaging Het
Other mutations in Nob1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Nob1 APN 8 108,151,360 (GRCm39) splice site probably benign
IGL01661:Nob1 APN 8 108,139,814 (GRCm39) missense probably damaging 1.00
IGL02110:Nob1 APN 8 108,142,804 (GRCm39) makesense probably null
IGL03373:Nob1 APN 8 108,144,678 (GRCm39) intron probably benign
PIT4531001:Nob1 UTSW 8 108,145,049 (GRCm39) missense probably benign 0.01
R0627:Nob1 UTSW 8 108,142,856 (GRCm39) missense probably damaging 1.00
R1181:Nob1 UTSW 8 108,148,122 (GRCm39) missense probably damaging 1.00
R1264:Nob1 UTSW 8 108,148,136 (GRCm39) missense probably damaging 0.99
R2257:Nob1 UTSW 8 108,143,729 (GRCm39) intron probably benign
R4402:Nob1 UTSW 8 108,145,120 (GRCm39) intron probably benign
R5330:Nob1 UTSW 8 108,142,881 (GRCm39) missense probably damaging 1.00
R6907:Nob1 UTSW 8 108,142,860 (GRCm39) missense possibly damaging 0.90
R7702:Nob1 UTSW 8 108,139,737 (GRCm39) nonsense probably null
R9119:Nob1 UTSW 8 108,142,776 (GRCm39) missense probably damaging 1.00
X0017:Nob1 UTSW 8 108,151,465 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCAAGGCCACTCTAATATTCCTT -3'
(R):5'- GTTGTGAGCCACCATGAGGA -3'

Sequencing Primer
(F):5'- CTGGTTCAGTGGTTAACAAAAGCCTG -3'
(R):5'- TTGTGAGCCACCATGAGGATACTG -3'
Posted On 2020-10-20