Incidental Mutation 'IGL01434:Nob1'
ID 84296
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nob1
Ensembl Gene ENSMUSG00000003848
Gene Name NIN1/RPN12 binding protein 1 homolog
Synonyms 1700021I09Rik, ART-4, Nob1p, Psmd8bp1
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL01434
Quality Score
Status
Chromosome 8
Chromosomal Location 108139121-108151670 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 108151360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003946] [ENSMUST00000169311]
AlphaFold Q8BW10
Predicted Effect probably benign
Transcript: ENSMUST00000003946
SMART Domains Protein: ENSMUSP00000003946
Gene: ENSMUSG00000003848

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 noncoding transcript
Transcript: ENSMUST00000076585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163973
Predicted Effect probably benign
Transcript: ENSMUST00000165266
SMART Domains Protein: ENSMUSP00000129298
Gene: ENSMUSG00000003848

DomainStartEndE-ValueType
Blast:PINc 5 61 9e-34 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000169311
SMART Domains Protein: ENSMUSP00000126868
Gene: ENSMUSG00000003848

DomainStartEndE-ValueType
PINc 5 108 2.28e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170796
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,380,297 (GRCm39) probably benign Het
Adcy7 A G 8: 89,051,472 (GRCm39) N864S probably damaging Het
Anapc7 A G 5: 122,576,279 (GRCm39) D302G probably benign Het
Atm A T 9: 53,419,107 (GRCm39) C782S probably benign Het
Bicdl1 G A 5: 115,808,215 (GRCm39) Q37* probably null Het
Cabin1 T C 10: 75,561,420 (GRCm39) D1027G possibly damaging Het
Cbl T C 9: 44,075,503 (GRCm39) I364V probably damaging Het
Ccer1 T C 10: 97,529,459 (GRCm39) S41P unknown Het
Cenpf G A 1: 189,390,065 (GRCm39) Q1256* probably null Het
Copa T A 1: 171,947,128 (GRCm39) I1093N probably benign Het
Cped1 C T 6: 22,017,004 (GRCm39) L118F probably damaging Het
Cplane2 T C 4: 140,945,964 (GRCm39) V169A probably benign Het
Cstdc4 T A 16: 36,006,777 (GRCm39) V37E probably benign Het
Dner T C 1: 84,361,731 (GRCm39) H626R probably benign Het
Ears2 G A 7: 121,662,311 (GRCm39) probably benign Het
Eif3c A G 7: 126,155,582 (GRCm39) I562T probably damaging Het
Eml6 T C 11: 29,769,090 (GRCm39) Y685C probably damaging Het
Garin1b T C 6: 29,320,700 (GRCm39) V108A probably damaging Het
Gpt A G 15: 76,582,982 (GRCm39) K321E probably damaging Het
Hspd1 C T 1: 55,120,285 (GRCm39) G306R probably damaging Het
Kmt2c T C 5: 25,614,306 (GRCm39) Y138C probably damaging Het
Lhcgr A G 17: 89,049,865 (GRCm39) Y554H probably damaging Het
Nell1 A T 7: 50,350,956 (GRCm39) K534N probably benign Het
Or13a17 G A 7: 140,271,531 (GRCm39) A238T probably damaging Het
Phf12 C T 11: 77,914,385 (GRCm39) P60L probably damaging Het
Prkdc A G 16: 15,531,451 (GRCm39) E1358G probably benign Het
Rimbp3 A G 16: 17,029,566 (GRCm39) T997A probably benign Het
Slc9a9 T A 9: 94,901,247 (GRCm39) N393K possibly damaging Het
Sohlh2 T C 3: 55,102,582 (GRCm39) S206P probably damaging Het
Stard10 G A 7: 100,971,187 (GRCm39) V125M probably benign Het
Tff2 G T 17: 31,362,240 (GRCm39) probably null Het
Tha1 T C 11: 117,759,425 (GRCm39) T355A probably benign Het
Tmem120a G T 5: 135,765,864 (GRCm39) F127L possibly damaging Het
Tmem41b A G 7: 109,577,909 (GRCm39) probably benign Het
Tonsl T C 15: 76,515,302 (GRCm39) D1028G probably benign Het
Other mutations in Nob1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8412:Nob1 UTSW 8 108,148,230 (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
Posted On 2013-11-11