Incidental Mutation 'R5330:Nob1'
ID 482197
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 042912-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R5330 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 108139121-108151670 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 108142881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 267 (T267P)
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: T267P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000003946
Gene: ENSMUSG00000003848
AA Change: T267P

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
AA Change: D134A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000126868
Gene: ENSMUSG00000003848
AA Change: D134A

DomainStartEndE-ValueType
PINc 5 108 2.28e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170796
Meta Mutation Damage Score 0.5975 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 99% (95/96)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
A2m A G 6: 121,615,375 (GRCm39) D83G probably benign Het
Abca16 T A 7: 120,102,600 (GRCm39) I833N probably benign Het
Adam6b C A 12: 113,454,200 (GRCm39) P339H possibly damaging Het
Adgrb2 A T 4: 129,915,995 (GRCm39) H1505L possibly damaging Het
Aktip A T 8: 91,853,352 (GRCm39) F122I probably damaging Het
Ankrd27 T A 7: 35,315,351 (GRCm39) L500* probably null Het
Blm T C 7: 80,108,684 (GRCm39) E55G possibly damaging Het
Carmil1 A T 13: 24,209,929 (GRCm39) probably null Het
Cdca7 T C 2: 72,315,042 (GRCm39) C311R probably damaging Het
Cds1 T C 5: 101,946,361 (GRCm39) S187P probably damaging Het
Chuk A T 19: 44,067,394 (GRCm39) V587E probably damaging Het
Commd10 T C 18: 47,093,497 (GRCm39) V19A probably damaging Het
Ctnnd2 C T 15: 30,332,261 (GRCm39) T48I probably damaging Het
Cyp2b10 T A 7: 25,613,414 (GRCm39) Y203* probably null Het
Dchs1 A T 7: 105,403,809 (GRCm39) V2911E probably damaging Het
Dnah12 G A 14: 26,495,787 (GRCm39) E1472K probably damaging Het
Dnah3 T C 7: 119,542,871 (GRCm39) T3514A probably benign Het
Dnah6 T A 6: 73,051,573 (GRCm39) I3074F probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Elp1 T C 4: 56,800,001 (GRCm39) T42A probably benign Het
Fam131c A T 4: 141,110,141 (GRCm39) T180S probably benign Het
Fbxo41 T C 6: 85,456,888 (GRCm39) E427G probably benign Het
Gabrr2 A G 4: 33,082,583 (GRCm39) K236E possibly damaging Het
Gm10152 A T 7: 144,317,283 (GRCm39) noncoding transcript Het
Gm10313 T A 8: 46,708,490 (GRCm39) noncoding transcript Het
Gm5414 C A 15: 101,533,099 (GRCm39) V443F probably damaging Het
Gm7334 T C 17: 51,006,160 (GRCm39) S149P possibly damaging Het
Grik2 G A 10: 49,008,867 (GRCm39) T740M probably damaging Het
Hdac5 T C 11: 102,088,180 (GRCm39) Y930C probably damaging Het
Hepacam2 T C 6: 3,483,377 (GRCm39) T211A probably benign Het
Herc4 G T 10: 63,143,578 (GRCm39) E703* probably null Het
Hivep2 A G 10: 14,007,164 (GRCm39) K1254R probably damaging Het
Hras T C 7: 140,772,853 (GRCm39) M1V probably null Het
Il23r T G 6: 67,400,479 (GRCm39) Q617P probably damaging Het
Kank1 A G 19: 25,388,693 (GRCm39) T789A probably damaging Het
Kcnj12 A G 11: 60,961,012 (GRCm39) K437E probably benign Het
Lct A T 1: 128,226,266 (GRCm39) D1374E probably benign Het
Luc7l C A 17: 26,494,707 (GRCm39) C104* probably null Het
Lurap1 G A 4: 116,001,601 (GRCm39) L31F probably damaging Het
Mark4 G A 7: 19,170,908 (GRCm39) P321S probably damaging Het
Med18 A G 4: 132,190,377 (GRCm39) probably benign Het
Mia2 A G 12: 59,142,598 (GRCm39) S5G probably benign Het
Mrgprb3 T C 7: 48,292,682 (GRCm39) T290A possibly damaging Het
Ms4a20 A G 19: 11,069,222 (GRCm39) probably benign Het
Negr1 A T 3: 156,774,913 (GRCm39) K210* probably null Het
Nktr T C 9: 121,581,834 (GRCm39) probably benign Het
Nos3 A G 5: 24,574,902 (GRCm39) E307G probably damaging Het
Nrxn2 A G 19: 6,540,111 (GRCm39) T796A probably damaging Het
Nwd2 C A 5: 63,963,859 (GRCm39) L1148I probably benign Het
Pcdh17 T A 14: 84,770,486 (GRCm39) V988E probably damaging Het
Pcdha4 G A 18: 37,087,755 (GRCm39) R646H probably benign Het
Per3 G T 4: 151,125,759 (GRCm39) L187I probably damaging Het
Phlpp2 A G 8: 110,660,667 (GRCm39) D774G probably damaging Het
Pibf1 T C 14: 99,378,082 (GRCm39) Y403H probably damaging Het
Plcl2 G A 17: 50,816,876 (GRCm39) A81T probably benign Het
Polr2a T C 11: 69,638,101 (GRCm39) N123D probably benign Het
Psma5 T G 3: 108,175,386 (GRCm39) V146G possibly damaging Het
Ptprk A T 10: 28,463,076 (GRCm39) D189V probably damaging Het
Relb C T 7: 19,340,630 (GRCm39) G509S possibly damaging Het
Rgs11 A T 17: 26,421,947 (GRCm39) M1L probably benign Het
Rhbg T A 3: 88,152,775 (GRCm39) T313S probably benign Het
Ripply2 T A 9: 86,897,691 (GRCm39) probably benign Het
Scap T C 9: 110,210,701 (GRCm39) V1011A probably benign Het
Scarf1 G A 11: 75,406,406 (GRCm39) G230D probably damaging Het
Sel1l3 A T 5: 53,343,351 (GRCm39) Y314N possibly damaging Het
Slc17a8 A G 10: 89,425,356 (GRCm39) probably null Het
Slc22a14 A T 9: 119,059,662 (GRCm39) L153Q probably damaging Het
Slc22a27 A G 19: 7,856,820 (GRCm39) I406T probably benign Het
Slc30a6 A G 17: 74,730,190 (GRCm39) D355G probably benign Het
Snta1 C A 2: 154,219,940 (GRCm39) E403* probably null Het
Socs7 A G 11: 97,268,852 (GRCm39) D382G possibly damaging Het
Spata31d1a A T 13: 59,848,217 (GRCm39) C1304S possibly damaging Het
Srebf2 T A 15: 82,080,409 (GRCm39) I834N possibly damaging Het
Steap1 G T 5: 5,790,422 (GRCm39) H175Q probably damaging Het
Sult2a8 T C 7: 14,147,679 (GRCm39) E204G possibly damaging Het
Tacc2 T C 7: 130,335,258 (GRCm39) S524P probably damaging Het
Tbc1d9b C T 11: 50,037,140 (GRCm39) A263V probably benign Het
Tecta A C 9: 42,249,152 (GRCm39) D1903E probably damaging Het
Tmem222 A C 4: 133,004,935 (GRCm39) M34R possibly damaging Het
Tnik A G 3: 28,596,167 (GRCm39) T187A probably damaging Het
Trpv4 A G 5: 114,773,604 (GRCm39) Y253H probably damaging Het
Trpv5 G A 6: 41,637,266 (GRCm39) R358C probably benign Het
Ttll13 T C 7: 79,910,257 (GRCm39) V800A probably benign Het
Ush2a G A 1: 188,460,578 (GRCm39) G2613E probably benign Het
Vmn2r58 G A 7: 41,513,384 (GRCm39) Q420* probably null Het
Zranb3 G A 1: 127,887,457 (GRCm39) P990L probably damaging Het
Zswim9 T A 7: 12,993,912 (GRCm39) D748V probably 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
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'- CAAGTTAGGGGTTCGGGATACATG -3'
(R):5'- GTATTTGGCACAGGACATGC -3'

Sequencing Primer
(F):5'- GTTCGGGATACATGCCACCTAC -3'
(R):5'- TGGCCACGGTCTGACATC -3'
Posted On 2017-07-11