Incidental Mutation 'R4180:Nub1'
ID 319684
Institutional Source Beutler Lab
Gene Symbol Nub1
Ensembl Gene ENSMUSG00000028954
Gene Name negative regulator of ubiquitin-like proteins 1
Synonyms NY-REN-18, 6330412F12Rik, BS4, 4931404D21Rik
MMRRC Submission 041016-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.872) question?
Stock # R4180 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 24890813-24915376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24897875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 87 (I87T)
Ref Sequence ENSEMBL: ENSMUSP00000143657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068825] [ENSMUST00000197407]
AlphaFold P54729
Predicted Effect probably damaging
Transcript: ENSMUST00000068825
AA Change: I63T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070265
Gene: ENSMUSG00000028954
AA Change: I63T

DomainStartEndE-ValueType
coiled coil region 37 70 N/A INTRINSIC
PDB:1WJU|A 71 162 2e-45 PDB
low complexity region 167 186 N/A INTRINSIC
UBA 375 412 7.29e-8 SMART
UBA 431 468 1.61e-9 SMART
UBA 490 527 1.95e-8 SMART
low complexity region 539 565 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181925
Predicted Effect probably damaging
Transcript: ENSMUST00000197407
AA Change: I87T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143657
Gene: ENSMUSG00000028954
AA Change: I87T

DomainStartEndE-ValueType
coiled coil region 61 94 N/A INTRINSIC
PDB:1WJU|A 95 186 2e-45 PDB
low complexity region 191 210 N/A INTRINSIC
UBA 399 436 3.5e-10 SMART
UBA 455 492 8.1e-12 SMART
UBA 514 551 9.5e-11 SMART
low complexity region 563 589 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200337
Meta Mutation Damage Score 0.6035 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (52/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,331,590 (GRCm39) S1326P possibly damaging Het
Adam22 T G 5: 8,199,218 (GRCm39) D246A probably damaging Het
Bmf T C 2: 118,363,018 (GRCm39) probably benign Het
Cd300lf T C 11: 115,015,089 (GRCm39) Y160C possibly damaging Het
Chuk G A 19: 44,090,279 (GRCm39) A71V probably benign Het
Col19a1 C T 1: 24,309,473 (GRCm39) G1060E probably damaging Het
Dock7 A G 4: 98,904,973 (GRCm39) V634A probably benign Het
Dpm3 A G 3: 89,174,039 (GRCm39) probably benign Het
Dqx1 A G 6: 83,036,460 (GRCm39) T155A probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Fam184b T C 5: 45,697,106 (GRCm39) E686G probably benign Het
Fhad1 T A 4: 141,712,854 (GRCm39) D195V possibly damaging Het
Glis2 T C 16: 4,429,240 (GRCm39) S148P probably benign Het
Gm8587 C T 12: 88,056,516 (GRCm39) noncoding transcript Het
Gon7 A G 12: 102,720,363 (GRCm39) S90P probably benign Het
Haus6 A T 4: 86,501,811 (GRCm39) W687R probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Idh3g A T X: 72,825,610 (GRCm39) probably null Het
Ints9 T C 14: 65,230,430 (GRCm39) L119P probably damaging Het
Itga9 T C 9: 118,436,146 (GRCm39) Y51H probably damaging Het
Klf17 T A 4: 117,616,383 (GRCm39) H316L probably benign Het
Klf4 C T 4: 55,530,884 (GRCm39) G26R possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lhcgr A G 17: 89,049,711 (GRCm39) V605A probably damaging Het
Mafa T C 15: 75,619,413 (GRCm39) Y120C possibly damaging Het
Map3k20 A G 2: 72,271,915 (GRCm39) Y681C probably damaging Het
Or1ak2 T A 2: 36,827,242 (GRCm39) V37D probably damaging Het
Pak2 C G 16: 31,871,005 (GRCm39) G59A probably benign Het
Pdzrn4 T A 15: 92,299,898 (GRCm39) V256D possibly damaging Het
Pkd2l1 T C 19: 44,180,620 (GRCm39) N32D probably benign Het
Plec T C 15: 76,064,415 (GRCm39) K1953R possibly damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Prkcd A G 14: 30,332,261 (GRCm39) probably benign Het
Rgcc T C 14: 79,538,155 (GRCm39) S79G probably benign Het
Sspo T C 6: 48,475,329 (GRCm39) probably null Het
Stxbp5l A T 16: 37,068,242 (GRCm39) C315S probably benign Het
Tc2n A G 12: 101,631,954 (GRCm39) L301P probably damaging Het
Tcerg1l T C 7: 137,878,405 (GRCm39) probably null Het
Tex12 T C 9: 50,470,587 (GRCm39) probably null Het
Tgm5 T C 2: 120,907,442 (GRCm39) I94V probably benign Het
Tonsl A G 15: 76,508,675 (GRCm39) L26P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trbv4 A C 6: 41,036,646 (GRCm39) D57A possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tuba4a T C 1: 75,192,426 (GRCm39) D396G probably benign Het
Txnrd2 C G 16: 18,245,175 (GRCm39) probably null Het
Zfp445 T C 9: 122,681,589 (GRCm39) N784S probably benign Het
Zfp459 G T 13: 67,556,562 (GRCm39) L174I probably benign Het
Other mutations in Nub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02367:Nub1 APN 5 24,894,392 (GRCm39) start codon destroyed probably null 0.99
IGL02626:Nub1 APN 5 24,908,462 (GRCm39) missense possibly damaging 0.65
IGL02629:Nub1 APN 5 24,908,462 (GRCm39) missense possibly damaging 0.65
IGL02633:Nub1 APN 5 24,897,931 (GRCm39) missense probably benign 0.00
IGL02798:Nub1 APN 5 24,897,812 (GRCm39) missense probably damaging 1.00
IGL03384:Nub1 APN 5 24,902,424 (GRCm39) splice site probably null
IGL03384:Nub1 APN 5 24,902,425 (GRCm39) splice site probably benign
R2484:Nub1 UTSW 5 24,913,700 (GRCm39) missense possibly damaging 0.91
R2679:Nub1 UTSW 5 24,897,923 (GRCm39) missense possibly damaging 0.93
R3825:Nub1 UTSW 5 24,912,851 (GRCm39) missense probably benign 0.21
R4593:Nub1 UTSW 5 24,914,119 (GRCm39) missense probably damaging 1.00
R4921:Nub1 UTSW 5 24,906,467 (GRCm39) missense probably benign 0.38
R5175:Nub1 UTSW 5 24,907,446 (GRCm39) missense probably benign 0.28
R5282:Nub1 UTSW 5 24,900,533 (GRCm39) missense probably benign 0.04
R5346:Nub1 UTSW 5 24,902,414 (GRCm39) missense probably damaging 0.96
R5533:Nub1 UTSW 5 24,907,379 (GRCm39) missense possibly damaging 0.93
R5567:Nub1 UTSW 5 24,913,814 (GRCm39) missense possibly damaging 0.54
R5802:Nub1 UTSW 5 24,907,439 (GRCm39) missense possibly damaging 0.95
R6966:Nub1 UTSW 5 24,894,470 (GRCm39) missense probably damaging 1.00
R6967:Nub1 UTSW 5 24,913,709 (GRCm39) missense probably benign
R7540:Nub1 UTSW 5 24,906,527 (GRCm39) missense probably damaging 1.00
R7787:Nub1 UTSW 5 24,913,801 (GRCm39) missense probably benign 0.03
R8478:Nub1 UTSW 5 24,906,422 (GRCm39) missense probably benign 0.01
R9746:Nub1 UTSW 5 24,908,483 (GRCm39) missense probably damaging 1.00
R9760:Nub1 UTSW 5 24,897,965 (GRCm39) missense possibly damaging 0.76
Z1177:Nub1 UTSW 5 24,907,456 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACGTTGCTTTGGGAACTAGC -3'
(R):5'- AACAGTTTGCTGAGCATGTG -3'

Sequencing Primer
(F):5'- TCTGGTTTCTCCTCATAGG -3'
(R):5'- GTCTTTAATCCTAGCAGAGGCAGC -3'
Posted On 2015-06-10