Incidental Mutation 'IGL02364:Ubqln2'
ID 290666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubqln2
Ensembl Gene ENSMUSG00000050148
Gene Name ubiquilin 2
Synonyms Dsk2, Chap1, HRIHFB2157, Plic-2
Accession Numbers
Essential gene? Not available question?
Stock # IGL02364
Quality Score
Status
Chromosome X
Chromosomal Location 152281228-152284558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152282906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 486 (L486P)
Ref Sequence ENSEMBL: ENSMUSP00000056888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060714]
AlphaFold Q9QZM0
Predicted Effect possibly damaging
Transcript: ENSMUST00000060714
AA Change: L486P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056888
Gene: ENSMUSG00000050148
AA Change: L486P

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bdp1 A T 13: 100,191,816 (GRCm39) probably benign Het
Car8 T C 4: 8,183,321 (GRCm39) I225V probably benign Het
Cc2d2a T A 5: 43,892,792 (GRCm39) N1390K probably damaging Het
Coasy T C 11: 100,975,184 (GRCm39) V247A possibly damaging Het
Dgkq A G 5: 108,804,310 (GRCm39) V50A probably benign Het
Dixdc1 A T 9: 50,593,931 (GRCm39) probably benign Het
Dmxl2 G A 9: 54,301,127 (GRCm39) A2328V probably benign Het
Exoc3l C A 8: 106,017,209 (GRCm39) V593L possibly damaging Het
Eya3 T C 4: 132,437,366 (GRCm39) S409P probably damaging Het
Garin4 T C 1: 190,895,713 (GRCm39) N310S probably benign Het
Gbp4 A T 5: 105,284,740 (GRCm39) S50T probably damaging Het
Gm5885 A G 6: 133,507,092 (GRCm39) noncoding transcript Het
H2ap G T X: 9,713,629 (GRCm39) probably benign Het
Igkv12-89 A T 6: 68,811,970 (GRCm39) Y66* probably null Het
Itgax G A 7: 127,739,154 (GRCm39) V601M possibly damaging Het
Kank3 T C 17: 34,037,824 (GRCm39) V291A probably benign Het
Klhl9 A G 4: 88,639,407 (GRCm39) M278T probably damaging Het
Lrrc43 G A 5: 123,639,275 (GRCm39) D435N possibly damaging Het
Ly75 A T 2: 60,188,851 (GRCm39) S292T probably damaging Het
Mchr1 G A 15: 81,121,480 (GRCm39) V77I probably benign Het
Mga T A 2: 119,794,535 (GRCm39) C2622S possibly damaging Het
Neb G T 2: 52,186,266 (GRCm39) Y935* probably null Het
Nt5el T A 13: 105,218,808 (GRCm39) D47E probably damaging Het
Phf20 A G 2: 156,136,017 (GRCm39) E612G possibly damaging Het
Pkhd1 A G 1: 20,271,007 (GRCm39) L3182P probably benign Het
Rnf130 T C 11: 49,986,667 (GRCm39) V337A probably benign Het
Slfn10-ps T C 11: 82,923,117 (GRCm39) noncoding transcript Het
Sorcs1 G A 19: 50,322,036 (GRCm39) P249L probably damaging Het
Spata13 C T 14: 60,928,723 (GRCm39) R94C probably damaging Het
Stk38 C T 17: 29,210,390 (GRCm39) R63Q probably benign Het
Tmem220 C A 11: 66,925,014 (GRCm39) H174N probably benign Het
Tmem68 C A 4: 3,560,536 (GRCm39) R216L probably damaging Het
Trim29 G A 9: 43,222,599 (GRCm39) V143M probably benign Het
Usp17le G A 7: 104,417,982 (GRCm39) Q387* probably null Het
Vps33b A G 7: 79,937,587 (GRCm39) E445G probably damaging Het
Other mutations in Ubqln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02948:Ubqln2 APN X 152,282,692 (GRCm39) nonsense probably null
IGL03037:Ubqln2 APN X 152,282,692 (GRCm39) nonsense probably null
R0702:Ubqln2 UTSW X 152,282,665 (GRCm39) missense possibly damaging 0.66
Z1177:Ubqln2 UTSW X 152,281,495 (GRCm39) missense unknown
Posted On 2015-04-16