Incidental Mutation 'IGL03302:Ubb'
ID 416255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubb
Ensembl Gene ENSMUSG00000019505
Gene Name ubiquitin B
Synonyms Ubb2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.358) question?
Stock # IGL03302
Quality Score
Status
Chromosome 11
Chromosomal Location 62442329-62444037 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62443243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 91 (L91Q)
Ref Sequence ENSEMBL: ENSMUSP00000117361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019649] [ENSMUST00000136938]
AlphaFold P0CG49
Predicted Effect probably damaging
Transcript: ENSMUST00000019649
AA Change: L91Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019649
Gene: ENSMUSG00000019505
AA Change: L91Q

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
UBQ 77 148 2.14e-36 SMART
UBQ 153 224 2.14e-36 SMART
UBQ 229 300 2.14e-36 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000136938
AA Change: L91Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117361
Gene: ENSMUSG00000019505
AA Change: L91Q

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
UBQ 77 148 2.14e-36 SMART
UBQ 153 224 2.14e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142533
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of four direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. Pseudogenes of this gene are located on chromosomes 3 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Targeted disruption of this gene results in progressive degeneration of hypothalamic neurons accompanied by impaired hypothalamic control of energy balance and adult-onset obesity. Both genders are infertile due to a failure of germ cells to progress through meiosis I and hypogonadism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,858,576 (GRCm39) Y542F possibly damaging Het
Ankrd34b A T 13: 92,576,151 (GRCm39) N461I possibly damaging Het
Ccl24 T C 5: 135,599,732 (GRCm39) K93E probably benign Het
Ccr9 T A 9: 123,608,601 (GRCm39) D94E probably damaging Het
Cd79a G A 7: 24,598,759 (GRCm39) V103M probably damaging Het
Ces1e A G 8: 93,950,521 (GRCm39) probably null Het
Cul9 T C 17: 46,837,566 (GRCm39) E993G probably damaging Het
Cyp4a14 T C 4: 115,348,575 (GRCm39) I330V probably benign Het
Cyp7a1 T C 4: 6,273,801 (GRCm39) D35G probably benign Het
Dmpk C A 7: 18,820,411 (GRCm39) probably benign Het
Gcnt1 G T 19: 17,306,547 (GRCm39) R393S probably benign Het
Lctl C T 9: 64,042,130 (GRCm39) probably benign Het
Mttp A T 3: 137,810,468 (GRCm39) I664N possibly damaging Het
Myh1 C T 11: 67,102,328 (GRCm39) A873V probably benign Het
Nedd9 A G 13: 41,492,330 (GRCm39) V54A probably damaging Het
Or3a1b T G 11: 74,012,459 (GRCm39) C115G possibly damaging Het
Or4f14 A T 2: 111,743,167 (GRCm39) V36E possibly damaging Het
Or6b1 G T 6: 42,814,937 (GRCm39) E41* probably null Het
Pak6 A T 2: 118,523,784 (GRCm39) E313V probably benign Het
Pla2g4a A G 1: 149,740,698 (GRCm39) S402P probably benign Het
Polq T C 16: 36,892,134 (GRCm39) M2012T probably damaging Het
Ppp1r12b A T 1: 134,765,788 (GRCm39) probably benign Het
Rbp3 A G 14: 33,676,616 (GRCm39) H188R probably damaging Het
Rps6ka2 C A 17: 7,566,787 (GRCm39) Q682K possibly damaging Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Spag4 A G 2: 155,910,340 (GRCm39) Q322R probably damaging Het
Spef2 T C 15: 9,676,466 (GRCm39) T702A probably benign Het
Spmap2l T G 5: 77,202,423 (GRCm39) S281R probably benign Het
Taf3 G T 2: 9,956,942 (GRCm39) F408L probably damaging Het
Tead2 T G 7: 44,882,323 (GRCm39) Y121D possibly damaging Het
Tmco5 A T 2: 116,722,760 (GRCm39) T294S probably damaging Het
Trim37 A G 11: 87,037,827 (GRCm39) E187G possibly damaging Het
Ugt2a3 G A 5: 87,484,439 (GRCm39) P195L probably damaging Het
Zan T C 5: 137,466,652 (GRCm39) S402G possibly damaging Het
Zc3h7a T A 16: 10,959,574 (GRCm39) H793L probably damaging Het
Zfhx4 C T 3: 5,468,773 (GRCm39) T2977I possibly damaging Het
Other mutations in Ubb
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB009:Ubb UTSW 11 62,443,611 (GRCm39) nonsense probably null
BB019:Ubb UTSW 11 62,443,611 (GRCm39) nonsense probably null
R1120:Ubb UTSW 11 62,443,009 (GRCm39) missense possibly damaging 0.94
R6223:Ubb UTSW 11 62,443,351 (GRCm39) missense possibly damaging 0.91
R6753:Ubb UTSW 11 62,442,353 (GRCm39) splice site probably null
R7932:Ubb UTSW 11 62,443,611 (GRCm39) nonsense probably null
R8201:Ubb UTSW 11 62,443,053 (GRCm39) missense probably benign 0.00
R8932:Ubb UTSW 11 62,442,979 (GRCm39) missense probably damaging 1.00
R9492:Ubb UTSW 11 62,442,984 (GRCm39) missense probably damaging 1.00
R9705:Ubb UTSW 11 62,443,375 (GRCm39) missense possibly damaging 0.84
Posted On 2016-08-02