Incidental Mutation 'IGL01566:Ubqln1'
ID90989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubqln1
Ensembl Gene ENSMUSG00000005312
Gene Nameubiquilin 1
SynonymsXDRP1, Plic-1, Dsk2, DA41, D13Ertd372e, 1110046H03Rik, 1810030E05Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.574) question?
Stock #IGL01566
Quality Score
Status
Chromosome13
Chromosomal Location58176156-58215653 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 58179667 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000058735] [ENSMUST00000076454]
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
4931417E11Rik G A 6: 73,468,690 T292I probably damaging Het
AB124611 T C 9: 21,535,989 V149A possibly damaging Het
Casc3 T C 11: 98,823,401 probably null Het
Dhdds T C 4: 133,991,337 I162V probably damaging Het
Dsg1a T C 18: 20,336,783 probably benign Het
E030025P04Rik T A 11: 109,143,888 D58V unknown Het
Gcn1l1 A G 5: 115,611,058 N1883S probably damaging Het
Gucy1a2 T C 9: 3,634,661 L235P probably damaging Het
Kprp T C 3: 92,823,964 N593S probably benign Het
Mme T C 3: 63,361,929 probably benign Het
Nr6a1 G T 2: 38,727,889 Q419K probably benign Het
Pcolce A G 5: 137,605,160 probably benign Het
Ppp2cb C A 8: 33,611,763 R110S probably benign Het
Slc35f1 A G 10: 53,089,455 Y322C probably damaging Het
Slc5a3 T C 16: 92,077,577 V174A probably damaging Het
St8sia4 G T 1: 95,653,757 R87S probably benign Het
Tfdp2 A G 9: 96,295,030 E5G probably damaging Het
Tmem161b T C 13: 84,294,762 I267T probably benign Het
Ttn A G 2: 76,952,021 L957P probably damaging Het
Ttn A G 2: 76,782,101 probably benign Het
Wdfy3 A C 5: 101,896,588 probably benign Het
Other mutations in Ubqln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Ubqln1 APN 13 58177992 nonsense probably null
IGL02160:Ubqln1 APN 13 58192137 missense probably damaging 1.00
IGL03171:Ubqln1 APN 13 58180858 missense probably damaging 1.00
R0140:Ubqln1 UTSW 13 58193289 missense probably damaging 1.00
R1676:Ubqln1 UTSW 13 58179391 missense possibly damaging 0.67
R1712:Ubqln1 UTSW 13 58192081 missense probably damaging 1.00
R4400:Ubqln1 UTSW 13 58193388 missense probably damaging 1.00
R5194:Ubqln1 UTSW 13 58199033 missense probably benign
R5419:Ubqln1 UTSW 13 58183183 missense probably damaging 0.99
R5778:Ubqln1 UTSW 13 58183317 missense probably benign 0.00
R6198:Ubqln1 UTSW 13 58196590 missense probably benign
R7829:Ubqln1 UTSW 13 58177905 missense probably damaging 1.00
Posted On2013-12-09