Incidental Mutation 'R1264:Nob1'
ID 151112
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 039331-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R1264 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 108139121-108151670 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108148136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 102 (H102R)
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 damaging
Transcript: ENSMUST00000003946
AA Change: H102R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003946
Gene: ENSMUSG00000003848
AA Change: H102R

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: ENSMUST00000109273
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 damaging
Transcript: ENSMUST00000169311
AA Change: H102R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126868
Gene: ENSMUSG00000003848
AA Change: H102R

DomainStartEndE-ValueType
PINc 5 108 2.28e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170796
Meta Mutation Damage Score 0.1026 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,592,103 (GRCm39) probably benign Het
Acadl A T 1: 66,896,712 (GRCm39) C27S probably benign Het
Adgrb3 C T 1: 25,598,931 (GRCm39) G258E probably damaging Het
Akna T C 4: 63,299,962 (GRCm39) probably null Het
Angpt2 T C 8: 18,791,233 (GRCm39) N21S probably benign Het
Ano6 A G 15: 95,847,447 (GRCm39) Y585C probably damaging Het
Ascc3 A T 10: 50,518,615 (GRCm39) probably benign Het
Clec10a T A 11: 70,060,567 (GRCm39) S103T possibly damaging Het
Clstn2 T C 9: 97,339,662 (GRCm39) R770G probably benign Het
Cndp2 C A 18: 84,696,916 (GRCm39) C95F possibly damaging Het
Col12a1 A G 9: 79,527,371 (GRCm39) V2653A probably benign Het
Col4a3 A T 1: 82,621,022 (GRCm39) probably benign Het
Daam1 A G 12: 72,022,085 (GRCm39) probably benign Het
H2-M9 A G 17: 36,953,484 (GRCm39) V18A probably benign Het
Heatr1 T A 13: 12,439,491 (GRCm39) probably benign Het
Impg1 T C 9: 80,221,675 (GRCm39) D715G probably benign Het
Incenp T C 19: 9,861,379 (GRCm39) K425E unknown Het
Kif13b T C 14: 65,013,681 (GRCm39) probably benign Het
Msh2 T A 17: 88,014,607 (GRCm39) probably null Het
Myh2 A G 11: 67,071,604 (GRCm39) N474D probably damaging Het
Myo18b T C 5: 112,978,185 (GRCm39) T1246A probably benign Het
Or4z4 G T 19: 12,076,198 (GRCm39) D268E probably benign Het
Pard3b A T 1: 62,203,316 (GRCm39) I415F probably damaging Het
Pfkl T G 10: 77,829,250 (GRCm39) K386T possibly damaging Het
Plekhs1 T C 19: 56,474,195 (GRCm39) V447A probably benign Het
Poli C T 18: 70,650,574 (GRCm39) V266I probably benign Het
Rapgef4 A T 2: 71,861,449 (GRCm39) K46N possibly damaging Het
Shisa6 T C 11: 66,265,975 (GRCm39) probably benign Het
Six3 T A 17: 85,929,285 (GRCm39) D206E probably damaging Het
Slc12a1 A T 2: 125,060,158 (GRCm39) E944D possibly damaging Het
Sptb A G 12: 76,659,381 (GRCm39) F1173S probably damaging Het
Tfdp1 C A 8: 13,423,837 (GRCm39) probably benign Het
Trrap A G 5: 144,726,409 (GRCm39) probably benign Het
Wbp11 A G 6: 136,791,513 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GGCCACCAAGGCCACTCTAATATTC -3'
(R):5'- TCCAAGGACTTGTCAGTTTGCCC -3'

Sequencing Primer
(F):5'- gtcccactcccagcacc -3'
(R):5'- CTTGTCAGTTTGCCCTTAACTAAAG -3'
Posted On 2014-01-29