Incidental Mutation 'IGL01566:Ubqln1'
ID 90989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubqln1
Ensembl Gene ENSMUSG00000005312
Gene Name ubiquilin 1
Synonyms XDRP1, 1110046H03Rik, 1810030E05Rik, Plic-1, D13Ertd372e, DA41, Dsk2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.719) question?
Stock # IGL01566
Quality Score
Status
Chromosome 13
Chromosomal Location 58323970-58363467 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 58327481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000058735] [ENSMUST00000076454]
AlphaFold Q8R317
Predicted Effect possibly damaging
Transcript: ENSMUST00000058735
AA Change: M439K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050191
Gene: ENSMUSG00000005312
AA Change: M439K

DomainStartEndE-ValueType
UBQ 28 98 7.78e-16 SMART
low complexity region 136 154 N/A INTRINSIC
STI1 173 201 6e0 SMART
STI1 203 242 6.75e-10 SMART
low complexity region 316 356 N/A INTRINSIC
STI1 381 428 2.62e-7 SMART
STI1 432 464 3.1e0 SMART
low complexity region 483 499 N/A INTRINSIC
UBA 540 578 1.77e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000076454
AA Change: M411K

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075782
Gene: ENSMUSG00000005312
AA Change: M411K

DomainStartEndE-ValueType
UBQ 28 98 7.78e-16 SMART
low complexity region 136 154 N/A INTRINSIC
STI1 173 201 6e0 SMART
STI1 203 242 6.75e-10 SMART
low complexity region 316 356 N/A INTRINSIC
STI1 381 420 2.24e-6 SMART
low complexity region 455 471 N/A INTRINSIC
UBA 512 550 1.77e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000225645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225818
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 a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an 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 modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null animals display impaired degradation of ubiquitinated proteins in the brain, increased ischemia/reperfusion-caused brain injury, and slower functional recovery after injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T C 9: 21,447,285 (GRCm39) V149A possibly damaging Het
Casc3 T C 11: 98,714,227 (GRCm39) probably null Het
Dhdds T C 4: 133,718,648 (GRCm39) I162V probably damaging Het
Dsg1a T C 18: 20,469,840 (GRCm39) probably benign Het
E030025P04Rik T A 11: 109,034,714 (GRCm39) D58V unknown Het
Gcn1 A G 5: 115,749,117 (GRCm39) N1883S probably damaging Het
Gucy1a2 T C 9: 3,634,661 (GRCm39) L235P probably damaging Het
Jkampl G A 6: 73,445,673 (GRCm39) T292I probably damaging Het
Kprp T C 3: 92,731,271 (GRCm39) N593S probably benign Het
Mme T C 3: 63,269,350 (GRCm39) probably benign Het
Nr6a1 G T 2: 38,617,901 (GRCm39) Q419K probably benign Het
Pcolce A G 5: 137,603,422 (GRCm39) probably benign Het
Ppp2cb C A 8: 34,101,791 (GRCm39) R110S probably benign Het
Slc35f1 A G 10: 52,965,551 (GRCm39) Y322C probably damaging Het
Slc5a3 T C 16: 91,874,465 (GRCm39) V174A probably damaging Het
St8sia4 G T 1: 95,581,482 (GRCm39) R87S probably benign Het
Tfdp2 A G 9: 96,177,083 (GRCm39) E5G probably damaging Het
Tmem161b T C 13: 84,442,881 (GRCm39) I267T probably benign Het
Ttn A G 2: 76,782,365 (GRCm39) L957P probably damaging Het
Ttn A G 2: 76,612,445 (GRCm39) probably benign Het
Wdfy3 A C 5: 102,044,454 (GRCm39) probably benign Het
Other mutations in Ubqln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Ubqln1 APN 13 58,325,806 (GRCm39) nonsense probably null
IGL02160:Ubqln1 APN 13 58,339,951 (GRCm39) missense probably damaging 1.00
IGL03171:Ubqln1 APN 13 58,328,672 (GRCm39) missense probably damaging 1.00
R0140:Ubqln1 UTSW 13 58,341,103 (GRCm39) missense probably damaging 1.00
R1676:Ubqln1 UTSW 13 58,327,205 (GRCm39) missense possibly damaging 0.67
R1712:Ubqln1 UTSW 13 58,339,895 (GRCm39) missense probably damaging 1.00
R4400:Ubqln1 UTSW 13 58,341,202 (GRCm39) missense probably damaging 1.00
R5194:Ubqln1 UTSW 13 58,346,847 (GRCm39) missense probably benign
R5419:Ubqln1 UTSW 13 58,330,997 (GRCm39) missense probably damaging 0.99
R5778:Ubqln1 UTSW 13 58,331,131 (GRCm39) missense probably benign 0.00
R6198:Ubqln1 UTSW 13 58,344,404 (GRCm39) missense probably benign
R7829:Ubqln1 UTSW 13 58,325,719 (GRCm39) missense probably damaging 1.00
R8479:Ubqln1 UTSW 13 58,339,653 (GRCm39) missense probably benign
R8523:Ubqln1 UTSW 13 58,339,569 (GRCm39) missense probably benign 0.00
R8834:Ubqln1 UTSW 13 58,331,058 (GRCm39) missense probably damaging 1.00
R9256:Ubqln1 UTSW 13 58,325,721 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09