Incidental Mutation 'R9492:Ubb'
ID 717017
Institutional Source Beutler Lab
Gene Symbol Ubb
Ensembl Gene ENSMUSG00000019505
Gene Name ubiquitin B
Synonyms Ubb2
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.358) question?
Stock # R9492 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 62442329-62444037 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 62442984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 5 (V5M)
Ref Sequence ENSEMBL: ENSMUSP00000019649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019649] [ENSMUST00000136938]
AlphaFold P0CG49
Predicted Effect probably damaging
Transcript: ENSMUST00000019649
AA Change: V5M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019649
Gene: ENSMUSG00000019505
AA Change: V5M

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: V5M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117361
Gene: ENSMUSG00000019505
AA Change: V5M

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
UBQ 77 148 2.14e-36 SMART
UBQ 153 224 2.14e-36 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A C 1: 120,078,472 (GRCm39) K43T probably damaging Het
Abca12 A G 1: 71,297,380 (GRCm39) V2370A possibly damaging Het
Abca13 T A 11: 9,243,667 (GRCm39) C1843* probably null Het
Abr C T 11: 76,399,751 (GRCm39) S82N probably benign Het
Acot2 T C 12: 84,039,384 (GRCm39) S298P probably benign Het
Acrbp A G 6: 125,038,062 (GRCm39) D421G probably benign Het
Adam25 A T 8: 41,206,736 (GRCm39) M1L probably benign Het
Ano8 A G 8: 71,934,784 (GRCm39) V441A possibly damaging Het
Aoc1l1 T C 6: 48,955,540 (GRCm39) S717P probably benign Het
Atg2b T C 12: 105,624,549 (GRCm39) H650R probably benign Het
Atp11a C T 8: 12,894,490 (GRCm39) T695I probably damaging Het
AU018091 A G 7: 3,214,023 (GRCm39) S74P probably benign Het
Cadps2 A G 6: 23,427,238 (GRCm39) Y597H probably benign Het
Ccdc15 C T 9: 37,215,665 (GRCm39) E619K probably damaging Het
Ceacam11 G T 7: 17,709,468 (GRCm39) C222F probably benign Het
Cmya5 T C 13: 93,177,822 (GRCm39) *3677W probably null Het
Col11a1 G C 3: 114,005,752 (GRCm39) C1628S probably benign Het
Dhx8 T C 11: 101,654,808 (GRCm39) I1032T possibly damaging Het
Dpp10 T C 1: 123,281,159 (GRCm39) D630G probably damaging Het
Eci3 C T 13: 35,143,976 (GRCm39) G50R probably benign Het
Eif2a A G 3: 58,448,475 (GRCm39) T103A probably benign Het
Frem1 T C 4: 82,920,057 (GRCm39) E432G probably damaging Het
Gdnf C T 15: 7,840,423 (GRCm39) probably benign Het
Hace1 T A 10: 45,547,230 (GRCm39) M471K probably benign Het
Hydin A G 8: 111,326,877 (GRCm39) T4739A possibly damaging Het
Ilf2 A G 3: 90,394,570 (GRCm39) I320V probably benign Het
Iqgap3 C A 3: 88,016,176 (GRCm39) F986L probably damaging Het
Klhl21 T C 4: 152,093,419 (GRCm39) L7S probably benign Het
Lrrc61 G T 6: 48,545,761 (GRCm39) E195* probably null Het
Maz G T 7: 126,622,292 (GRCm39) A443E possibly damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mtor T A 4: 148,568,801 (GRCm39) L1107Q probably damaging Het
Nectin3 T C 16: 46,215,511 (GRCm39) H494R probably benign Het
Nlgn1 G T 3: 25,488,480 (GRCm39) Y618* probably null Het
Nup98 C T 7: 101,778,252 (GRCm39) E1372K probably benign Het
Or12e9 A G 2: 87,201,960 (GRCm39) N28S probably benign Het
Or5af1 T C 11: 58,722,610 (GRCm39) V210A probably benign Het
Otud6b A G 4: 14,818,349 (GRCm39) I184T probably damaging Het
Pcsk6 A G 7: 65,697,346 (GRCm39) N891S probably benign Het
Pde4a T A 9: 21,106,096 (GRCm39) L237Q probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pou3f1 A G 4: 124,552,179 (GRCm39) H227R possibly damaging Het
Prss53 G A 7: 127,488,802 (GRCm39) R31C probably damaging Het
Psmb8 T A 17: 34,417,435 (GRCm39) D21E probably benign Het
Ptprq A G 10: 107,478,813 (GRCm39) Y1277H probably damaging Het
Rexo2 T C 9: 48,380,176 (GRCm39) T219A probably benign Het
Rfc3 A G 5: 151,566,411 (GRCm39) F346S probably damaging Het
Rhoq A T 17: 87,304,373 (GRCm39) Q168L Het
Sgk1 A G 10: 21,874,096 (GRCm39) N452S probably damaging Het
Slc35f3 A G 8: 127,048,026 (GRCm39) K122R probably damaging Het
Slc4a2 T A 5: 24,644,761 (GRCm39) M1021K probably benign Het
Sorcs2 A G 5: 36,186,484 (GRCm39) V886A probably benign Het
Spata20 T A 11: 94,374,444 (GRCm39) M308L probably damaging Het
Spen A T 4: 141,199,098 (GRCm39) H3176Q probably benign Het
Stat5b T A 11: 100,692,361 (GRCm39) H141L probably benign Het
Syne2 T A 12: 75,995,839 (GRCm39) H2126Q possibly damaging Het
Traj46 A G 14: 54,409,851 (GRCm39) T20A Het
Trim30a G T 7: 104,078,330 (GRCm39) Q249K probably damaging Het
Trmt13 A G 3: 116,388,281 (GRCm39) Y52H probably benign Het
Trpv3 A G 11: 73,187,267 (GRCm39) I700V probably damaging Het
Tyr G A 7: 87,121,704 (GRCm39) H363Y probably damaging Het
Tyr C G 7: 87,121,705 (GRCm39) M362I possibly damaging Het
Unc5a T C 13: 55,150,288 (GRCm39) L519P probably damaging Het
Uso1 A G 5: 92,315,191 (GRCm39) D185G possibly damaging Het
Vmn1r228 C T 17: 20,996,862 (GRCm39) E219K probably damaging Het
Wdr49 A G 3: 75,240,669 (GRCm39) V400A probably damaging Het
Zfp292 A G 4: 34,810,794 (GRCm39) M755T probably benign Het
Other mutations in Ubb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03302:Ubb APN 11 62,443,243 (GRCm39) missense probably damaging 1.00
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
R9705:Ubb UTSW 11 62,443,375 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- TTAGCGAACTTGGATGCCC -3'
(R):5'- CAGGGTTGACTCCTTCTGGATG -3'

Sequencing Primer
(F):5'- ATGCCCCGCAGTTGATGAATG -3'
(R):5'- ACTCCTTCTGGATGTTGTAATCAGAG -3'
Posted On 2022-07-18