Incidental Mutation 'IGL03384:Nub1'
ID420827
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nub1
Ensembl Gene ENSMUSG00000028954
Gene Namenegative regulator of ubiquitin-like proteins 1
SynonymsNY-REN-18, 4931404D21Rik, 6330412F12Rik, BS4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.871) question?
Stock #IGL03384
Quality Score
Status
Chromosome5
Chromosomal Location24685532-24710378 bp(+) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) A to T at 24697426 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068825] [ENSMUST00000197407]
Predicted Effect probably null
Transcript: ENSMUST00000068825
SMART Domains Protein: ENSMUSP00000070265
Gene: ENSMUSG00000028954

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 null
Transcript: ENSMUST00000197407
SMART Domains Protein: ENSMUSP00000143657
Gene: ENSMUSG00000028954

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A G 11: 72,195,847 I246T possibly damaging Het
Ablim2 C T 5: 35,874,872 R614C probably damaging Het
B230118H07Rik G T 2: 101,585,263 T115N probably benign Het
B4galt7 T C 13: 55,609,289 L265P probably damaging Het
Col4a4 C T 1: 82,484,438 C1072Y probably benign Het
Cxcr2 T C 1: 74,158,791 V148A probably damaging Het
Dnah14 G A 1: 181,745,949 V2942M probably benign Het
Fam124b T A 1: 80,199,956 H442L probably benign Het
Haus6 T C 4: 86,583,525 H703R probably benign Het
Ice1 T C 13: 70,603,249 T1573A probably benign Het
Ighv1-31 A G 12: 114,829,473 F48L probably benign Het
Iws1 C A 18: 32,093,150 A697D probably damaging Het
Jhy T A 9: 40,960,932 N94Y probably benign Het
Kank2 C T 9: 21,774,578 V667M possibly damaging Het
Mcam G A 9: 44,140,512 probably benign Het
Muc5ac A T 7: 141,812,403 I2099F possibly damaging Het
Myo7a T C 7: 98,093,593 I410V probably damaging Het
Olfr980 T C 9: 40,006,470 T160A probably benign Het
Panx2 C T 15: 89,068,119 A271V possibly damaging Het
Papss1 T A 3: 131,579,352 H13Q probably damaging Het
Pkd1 A G 17: 24,565,897 T438A probably benign Het
Ppdpf T C 2: 181,187,880 S43P probably benign Het
Ptchd4 T A 17: 42,502,590 C461S probably damaging Het
Rapgef2 A G 3: 79,083,546 F985S probably damaging Het
Rbm25 T C 12: 83,659,523 I214T probably benign Het
Sgpp1 T C 12: 75,716,106 probably benign Het
Slc22a20 A T 19: 5,980,374 C343* probably null Het
Slc22a22 T C 15: 57,254,216 I310V probably benign Het
Slc6a13 T C 6: 121,332,391 F287S probably damaging Het
Usp30 A G 5: 114,121,574 D447G probably damaging Het
Vmn1r78 A T 7: 12,153,209 Y249F possibly damaging Het
Vmn2r106 T C 17: 20,268,143 T665A probably damaging Het
Vps37b A G 5: 124,007,607 probably null Het
Wfdc1 T A 8: 119,686,277 N198K probably benign Het
Other mutations in Nub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02367:Nub1 APN 5 24689394 start codon destroyed probably null 0.99
IGL02626:Nub1 APN 5 24703464 missense possibly damaging 0.65
IGL02629:Nub1 APN 5 24703464 missense possibly damaging 0.65
IGL02633:Nub1 APN 5 24692933 missense probably benign 0.00
IGL02798:Nub1 APN 5 24692814 missense probably damaging 1.00
IGL03384:Nub1 APN 5 24697427 splice site probably benign
R2484:Nub1 UTSW 5 24708702 missense possibly damaging 0.91
R2679:Nub1 UTSW 5 24692925 missense possibly damaging 0.93
R3825:Nub1 UTSW 5 24707853 missense probably benign 0.21
R4180:Nub1 UTSW 5 24692877 missense probably damaging 0.99
R4593:Nub1 UTSW 5 24709121 missense probably damaging 1.00
R4921:Nub1 UTSW 5 24701469 missense probably benign 0.38
R5175:Nub1 UTSW 5 24702448 missense probably benign 0.28
R5282:Nub1 UTSW 5 24695535 missense probably benign 0.04
R5346:Nub1 UTSW 5 24697416 missense probably damaging 0.96
R5533:Nub1 UTSW 5 24702381 missense possibly damaging 0.93
R5567:Nub1 UTSW 5 24708816 missense possibly damaging 0.54
R5802:Nub1 UTSW 5 24702441 missense possibly damaging 0.95
R6966:Nub1 UTSW 5 24689472 missense probably damaging 1.00
R6967:Nub1 UTSW 5 24708711 missense probably benign
Posted On2016-08-02