Incidental Mutation 'IGL00230:Ubqln1'
ID306808
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: 0.636) question?
Stock #IGL00230
Quality Score
Status
Chromosome13
Chromosomal Location58176156-58215653 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 58177992 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 152 (E152*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058735] [ENSMUST00000076454]
Predicted Effect probably null
Transcript: ENSMUST00000058735
AA Change: E545*
SMART Domains Protein: ENSMUSP00000050191
Gene: ENSMUSG00000005312
AA Change: E545*

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 probably null
Transcript: ENSMUST00000076454
AA Change: E517*
SMART Domains Protein: ENSMUSP00000075782
Gene: ENSMUSG00000005312
AA Change: E517*

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
AA Change: E152*
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bin1 C T 18: 32,420,107 A215V probably damaging Het
Cyp2j6 C T 4: 96,536,046 R158H possibly damaging Het
Dnaaf2 T C 12: 69,196,766 D507G probably benign Het
Fam13b T C 18: 34,487,096 E245G possibly damaging Het
Gal3st1 A T 11: 3,999,070 probably benign Het
Galnt5 A T 2: 57,998,973 Q195L probably benign Het
Gfm2 A G 13: 97,155,442 T229A probably benign Het
Gigyf1 A G 5: 137,522,745 probably benign Het
Gm4353 G T 7: 116,083,554 T264K probably damaging Het
Gsk3b A T 16: 38,228,707 I389F probably benign Het
Hist1h2bm G T 13: 21,722,375 R93L possibly damaging Het
Htt A G 5: 34,799,408 T194A probably benign Het
Ighg3 T C 12: 113,359,837 Y273C unknown Het
Kdm5b T A 1: 134,620,955 V1066D probably damaging Het
Kif1a G T 1: 93,054,934 A707E probably damaging Het
Maats1 A G 16: 38,336,342 probably null Het
Mars A G 10: 127,298,006 M674T probably benign Het
Mas1 T C 17: 12,841,990 D182G probably benign Het
Metap1d T A 2: 71,512,162 D178E probably damaging Het
Nhsl1 T A 10: 18,527,609 D1329E probably benign Het
Ninl T C 2: 150,966,241 E289G probably damaging Het
Pmel G T 10: 128,716,089 G264V possibly damaging Het
Ruvbl1 T C 6: 88,484,403 probably benign Het
Scn8a T A 15: 100,955,532 probably benign Het
Sept9 T C 11: 117,354,804 probably benign Het
Sgpp1 G T 12: 75,716,194 Y404* probably null Het
Sgsm1 T C 5: 113,245,064 I788V probably benign Het
Slc13a4 A T 6: 35,289,824 M112K probably benign Het
Slc22a29 T C 19: 8,217,813 M153V probably benign Het
Slc9c1 T G 16: 45,573,389 V565G possibly damaging Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Tec C T 5: 72,768,768 A314T probably damaging Het
Tg A G 15: 66,827,290 I803V probably benign Het
Trav9-1 A T 14: 53,488,393 I55F probably benign Het
Ttll12 C A 15: 83,578,656 E536D probably benign Het
Wwtr1 G A 3: 57,463,491 T338I probably benign Het
Zdhhc16 T C 19: 41,939,660 F206S probably benign Het
Other mutations in Ubqln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01566:Ubqln1 APN 13 58179667 splice site 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
R8479:Ubqln1 UTSW 13 58191839 missense probably benign
R8523:Ubqln1 UTSW 13 58191755 missense probably benign 0.00
Posted On2015-04-16