Incidental Mutation 'R4402:Nob1'
ID 326680
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 042003-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R4402 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 108139121-108151670 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 108145120 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: 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 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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (61/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,771,020 (GRCm39) H167Q probably benign Het
Adamts20 T C 15: 94,277,827 (GRCm39) T212A probably benign Het
Ap3b1 C A 13: 94,554,607 (GRCm39) L248I probably damaging Het
Atl1 T G 12: 70,005,973 (GRCm39) D426E probably benign Het
Cage1 T A 13: 38,207,078 (GRCm39) I256F probably damaging Het
Calcr A T 6: 3,708,484 (GRCm39) probably null Het
Canx T C 11: 50,195,265 (GRCm39) T268A probably benign Het
Chd7 A T 4: 8,866,353 (GRCm39) M842L possibly damaging Het
Clca4a T C 3: 144,658,609 (GRCm39) T787A probably benign Het
Clstn3 T C 6: 124,433,939 (GRCm39) Y407C probably damaging Het
Copa C A 1: 171,929,791 (GRCm39) T286N probably damaging Het
Cyb5a G A 18: 84,889,718 (GRCm39) R49Q possibly damaging Het
Def6 A G 17: 28,438,950 (GRCm39) K219E probably damaging Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Eif5 A T 12: 111,508,183 (GRCm39) K161N probably benign Het
Fras1 C A 5: 96,790,479 (GRCm39) T951K probably damaging Het
Gen1 A T 12: 11,292,363 (GRCm39) N475K possibly damaging Het
Gm14569 T C X: 35,697,146 (GRCm39) Y521C probably benign Het
Gm6124 T A 7: 38,870,529 (GRCm39) noncoding transcript Het
Gpt2 A T 8: 86,252,188 (GRCm39) D501V probably benign Het
Gstm2 T C 3: 107,893,370 (GRCm39) K31R probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Itga1 T A 13: 115,138,102 (GRCm39) M428L probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcnn4 T C 7: 24,076,867 (GRCm39) W139R probably benign Het
Kdm7a T A 6: 39,143,602 (GRCm39) R380W probably null Het
Khdrbs1 T G 4: 129,635,889 (GRCm39) D22A possibly damaging Het
Liph A T 16: 21,795,000 (GRCm39) I204N probably damaging Het
Loxhd1 A G 18: 77,529,456 (GRCm39) E2033G possibly damaging Het
M6pr C T 6: 122,291,982 (GRCm39) probably benign Het
Mrm1 A G 11: 84,709,915 (GRCm39) I95T probably damaging Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Mug1 C A 6: 121,856,311 (GRCm39) F1030L probably damaging Het
Naca C T 10: 127,879,341 (GRCm39) probably benign Het
Nutm1 A C 2: 112,080,154 (GRCm39) I587R probably damaging Het
Or1e26 A G 11: 73,480,081 (GRCm39) V161A probably benign Het
Pcdhb2 A G 18: 37,428,455 (GRCm39) K143E probably benign Het
Pcnt T C 10: 76,228,227 (GRCm39) Q1646R probably benign Het
Piwil2 A T 14: 70,646,365 (GRCm39) D390E probably benign Het
Pkhd1 A G 1: 20,309,635 (GRCm39) L2771P probably damaging Het
Pla2g1b T A 5: 115,608,947 (GRCm39) Y47* probably null Het
Plekhn1 T C 4: 156,309,813 (GRCm39) T135A probably damaging Het
Pola1 T C X: 92,605,029 (GRCm39) Y968C probably damaging Het
Ppp1r26 C A 2: 28,341,618 (GRCm39) T416K probably benign Het
Psmd1 A G 1: 86,003,673 (GRCm39) I153V possibly damaging Het
Rcan2 A G 17: 44,264,361 (GRCm39) D7G probably benign Het
Rexo5 T C 7: 119,433,599 (GRCm39) I326T possibly damaging Het
Rps6kc1 A G 1: 190,530,802 (GRCm39) probably benign Het
Shc1 T C 3: 89,333,985 (GRCm39) S273P probably benign Het
Slc9b2 T C 3: 135,042,305 (GRCm39) V528A probably benign Het
Tas2r118 T C 6: 23,969,293 (GRCm39) K256R probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tnfaip2 T C 12: 111,416,285 (GRCm39) F516L probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Wdr35 A G 12: 9,039,981 (GRCm39) D362G probably damaging Het
Wwp2 T C 8: 108,184,610 (GRCm39) V106A probably benign Het
Zfp40 T A 17: 23,395,693 (GRCm39) H230L possibly damaging Het
Zkscan17 T A 11: 59,393,848 (GRCm39) M1L 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
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'- CAACGTCCCTAGAGAGTGCAAG -3'
(R):5'- CCTTTTAGAAGCCCTGGTCC -3'

Sequencing Primer
(F):5'- AGTGCAAGCCAGGGCCTTAC -3'
(R):5'- CGTGGGCTCTTACTACAACGTG -3'
Posted On 2015-07-07