Incidental Mutation 'IGL02629:Nub1'
ID 301212
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nub1
Ensembl Gene ENSMUSG00000028954
Gene Name negative regulator of ubiquitin-like proteins 1
Synonyms NY-REN-18, 6330412F12Rik, BS4, 4931404D21Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.872) question?
Stock # IGL02629
Quality Score
Chromosome 5
Chromosomal Location 24890813-24915376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24908462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 404 (H404Y)
Ref Sequence ENSEMBL: ENSMUSP00000143657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068825] [ENSMUST00000197407]
AlphaFold P54729
Predicted Effect probably benign
Transcript: ENSMUST00000068825
AA Change: H380Y

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000070265
Gene: ENSMUSG00000028954
AA Change: H380Y

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 possibly damaging
Transcript: ENSMUST00000197407
AA Change: H404Y

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143657
Gene: ENSMUSG00000028954
AA Change: H404Y

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
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,445,006 (GRCm39) probably benign Het
Aadacl3 A G 4: 144,190,199 (GRCm39) I34T possibly damaging Het
Acan T A 7: 78,761,727 (GRCm39) I1979N possibly damaging Het
Ankrd27 A G 7: 35,325,121 (GRCm39) D701G probably benign Het
Arhgap31 C T 16: 38,429,526 (GRCm39) G450S probably benign Het
Braf T C 6: 39,665,233 (GRCm39) E45G possibly damaging Het
Btnl6 C T 17: 34,733,442 (GRCm39) V178M probably damaging Het
Capg A T 6: 72,532,737 (GRCm39) Q67L probably benign Het
Carmil3 A G 14: 55,736,525 (GRCm39) N663S probably damaging Het
Casz1 T A 4: 149,028,848 (GRCm39) S1098T probably benign Het
Cd55b A T 1: 130,347,535 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cenpf A G 1: 189,384,531 (GRCm39) L2583P probably damaging Het
Clec4a1 A C 6: 122,909,106 (GRCm39) probably null Het
Corin T C 5: 72,490,016 (GRCm39) N653S probably damaging Het
Dhx36 T C 3: 62,414,155 (GRCm39) E69G probably benign Het
Dpy19l1 C A 9: 24,350,009 (GRCm39) probably benign Het
Fam184a T C 10: 53,574,907 (GRCm39) N234S possibly damaging Het
Foxg1 A G 12: 49,432,331 (GRCm39) S355G probably benign Het
Fsd1l T C 4: 53,686,417 (GRCm39) S277P probably damaging Het
Hadh T A 3: 131,029,284 (GRCm39) D245V probably damaging Het
Jag2 G A 12: 112,878,134 (GRCm39) probably benign Het
Klhl18 A T 9: 110,259,006 (GRCm39) probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Mcoln2 A G 3: 145,875,799 (GRCm39) Y89C probably benign Het
Mug1 A T 6: 121,817,024 (GRCm39) Y31F possibly damaging Het
Ndufb5 A G 3: 32,791,348 (GRCm39) T32A probably benign Het
Nudt6 A G 3: 37,459,320 (GRCm39) Y222H probably benign Het
Or4x6 A T 2: 89,949,201 (GRCm39) L247* probably null Het
Pla2g4c A T 7: 13,069,302 (GRCm39) R159* probably null Het
Pnpla7 A G 2: 24,940,957 (GRCm39) D1103G probably damaging Het
Pof1b T G X: 111,554,934 (GRCm39) probably benign Het
Prrg2 C T 7: 44,706,166 (GRCm39) probably null Het
Rab3gap1 A G 1: 127,837,600 (GRCm39) T221A probably benign Het
Rfx7 A G 9: 72,526,541 (GRCm39) N1244D probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rnf123 A T 9: 107,947,988 (GRCm39) probably benign Het
Rnf44 T G 13: 54,830,875 (GRCm39) Q207P possibly damaging Het
Serpina3g A G 12: 104,207,437 (GRCm39) D200G probably damaging Het
Slc5a4a T A 10: 75,983,413 (GRCm39) S17T unknown Het
Smc4 G T 3: 68,933,206 (GRCm39) C609F probably damaging Het
Sync T C 4: 129,187,744 (GRCm39) F259L probably damaging Het
Tas2r113 T C 6: 132,870,299 (GRCm39) L109P probably damaging Het
Tjp2 C A 19: 24,099,743 (GRCm39) probably benign Het
Tmem30a C A 9: 79,683,531 (GRCm39) probably benign Het
Unc80 T C 1: 66,522,476 (GRCm39) V226A possibly damaging Het
Upk2 A T 9: 44,365,436 (GRCm39) L44Q probably damaging Het
Usp42 T C 5: 143,708,909 (GRCm39) Y203C possibly damaging Het
Vmn1r28 A T 6: 58,242,801 (GRCm39) I215F probably benign Het
Zswim2 A G 2: 83,755,553 (GRCm39) V116A possibly damaging 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
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
R4180:Nub1 UTSW 5 24,897,875 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-04-16