Incidental Mutation 'R0702:Ubqln2'
ID 63070
Institutional Source Beutler Lab
Gene Symbol Ubqln2
Ensembl Gene ENSMUSG00000050148
Gene Name ubiquilin 2
Synonyms Dsk2, Chap1, HRIHFB2157, Plic-2
MMRRC Submission 038885-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0702 (G1)
Quality Score 102
Status Not validated
Chromosome X
Chromosomal Location 152281228-152284558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 152282665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 406 (M406L)
Ref Sequence ENSEMBL: ENSMUSP00000056888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060714]
AlphaFold Q9QZM0
Predicted Effect possibly damaging
Transcript: ENSMUST00000060714
AA Change: M406L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056888
Gene: ENSMUSG00000050148
AA Change: M406L

DomainStartEndE-ValueType
UBQ 33 103 5.81e-15 SMART
low complexity region 112 172 N/A INTRINSIC
STI1 189 217 1.23e1 SMART
STI1 219 258 2.39e-10 SMART
low complexity region 305 316 N/A INTRINSIC
low complexity region 336 371 N/A INTRINSIC
STI1 393 440 2.89e-9 SMART
STI1 444 476 1.23e1 SMART
low complexity region 503 551 N/A INTRINSIC
UBA 596 634 3.54e-6 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases; and thus, are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd11 A T 8: 123,616,505 (GRCm39) I2428N probably damaging Het
Ano9 A G 7: 140,687,195 (GRCm39) V348A probably damaging Het
Cfap69 A G 5: 5,694,465 (GRCm39) I132T probably benign Het
Chd1l C T 3: 97,474,110 (GRCm39) D791N probably benign Het
Chl1 A G 6: 103,683,583 (GRCm39) Y819C probably damaging Het
Col5a2 T A 1: 45,419,291 (GRCm39) D1263V possibly damaging Het
Csnk1g1 C T 9: 65,917,775 (GRCm39) R45W probably damaging Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Dgat2l6 G A X: 99,586,287 (GRCm39) V180M probably damaging Het
Fscb G A 12: 64,518,775 (GRCm39) P897L unknown Het
Herc6 T C 6: 57,558,092 (GRCm39) L24P probably damaging Het
Il23r T A 6: 67,443,269 (GRCm39) Q278L probably damaging Het
Kpna4 A T 3: 68,991,438 (GRCm39) V361D probably damaging Het
Muc1 A G 3: 89,137,527 (GRCm39) D123G probably benign Het
Notch4 A G 17: 34,794,177 (GRCm39) Y722C probably damaging Het
Ntng1 G C 3: 109,779,570 (GRCm39) R336G probably damaging Het
Or5ac17 T C 16: 59,036,062 (GRCm39) M305V probably benign Het
Pgbd5 C T 8: 125,100,994 (GRCm39) V421M probably benign Het
Prkdc A G 16: 15,603,835 (GRCm39) T2950A possibly damaging Het
Proser3 A T 7: 30,238,955 (GRCm39) D630E probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Serpina3g A G 12: 104,207,512 (GRCm39) E225G probably damaging Het
Slc2a13 T C 15: 91,205,870 (GRCm39) D439G probably benign Het
Srebf2 T C 15: 82,061,610 (GRCm39) L352P probably damaging Het
Trpc5 A G X: 143,194,735 (GRCm39) V590A probably damaging Het
Other mutations in Ubqln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02364:Ubqln2 APN X 152,282,906 (GRCm39) missense possibly damaging 0.90
IGL02948:Ubqln2 APN X 152,282,692 (GRCm39) nonsense probably null
IGL03037:Ubqln2 APN X 152,282,692 (GRCm39) nonsense probably null
Z1177:Ubqln2 UTSW X 152,281,495 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TATGCTGAATGCCGCACAGGAG -3'
(R):5'- TTGACATGGCCGCGATGGTTTC -3'

Sequencing Primer
(F):5'- AGTTCCACCTCAGGGGAAG -3'
(R):5'- CTGGATTCTGCATCTGCTGC -3'
Posted On 2013-07-30