Incidental Mutation 'R6272:Ubqln3'
ID 507396
Institutional Source Beutler Lab
Gene Symbol Ubqln3
Ensembl Gene ENSMUSG00000051618
Gene Name ubiquilin 3
Synonyms 4933400K24Rik
MMRRC Submission 044442-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R6272 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 104140623-104143279 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104142178 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 235 (R235H)
Ref Sequence ENSEMBL: ENSMUSP00000055229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057254] [ENSMUST00000138055]
AlphaFold Q8C5U9
Predicted Effect probably damaging
Transcript: ENSMUST00000057254
AA Change: R235H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055229
Gene: ENSMUSG00000051618
AA Change: R235H

DomainStartEndE-ValueType
UBQ 22 92 1.56e-15 SMART
low complexity region 103 115 N/A INTRINSIC
low complexity region 120 151 N/A INTRINSIC
STI1 194 233 4.25e-7 SMART
low complexity region 280 291 N/A INTRINSIC
low complexity region 313 328 N/A INTRINSIC
low complexity region 505 515 N/A INTRINSIC
UBA 619 657 4.22e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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 are thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This gene is specifically expressed in the testis. It has been suggested that this gene may regulate cell-cycle progression during spermatogenesis, however, it has been shown that the ortholgous mouse gene is dispensable for embryonic development and spermatogenesis. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and developmentally normal with no apparent defects in male fertility or spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A T 5: 50,009,449 (GRCm38) M187K possibly damaging Het
Adgrg3 A G 8: 95,036,261 (GRCm38) I189V noncoding transcript Het
Ampd1 A G 3: 103,085,383 (GRCm38) K147R possibly damaging Het
Apbb2 T C 5: 66,311,072 (GRCm38) T561A probably damaging Het
Arfgef3 A T 10: 18,646,963 (GRCm38) D438E probably benign Het
Atxn1 T A 13: 45,567,762 (GRCm38) Q219L possibly damaging Het
AW551984 A T 9: 39,598,037 (GRCm38) D269E probably benign Het
Cryab A G 9: 50,754,525 (GRCm38) K72R possibly damaging Het
Dbn1 G A 13: 55,475,104 (GRCm38) A522V probably benign Het
Dip2a A T 10: 76,286,407 (GRCm38) *158R probably null Het
Edrf1 C T 7: 133,637,808 (GRCm38) probably benign Het
Ern2 A T 7: 122,176,646 (GRCm38) D408E probably benign Het
F830016B08Rik T C 18: 60,300,078 (GRCm38) S78P probably damaging Het
Fah C A 7: 84,595,545 (GRCm38) G137C probably damaging Het
Fam208b C T 13: 3,581,891 (GRCm38) R870H possibly damaging Het
Foxd3 A G 4: 99,656,740 (GRCm38) D39G probably damaging Het
Gm3854 C T 7: 6,353,845 (GRCm38) P219L probably damaging Het
Gprin3 G A 6: 59,353,331 (GRCm38) Q664* probably null Het
H2-Ob T C 17: 34,242,644 (GRCm38) I119T probably benign Het
Hist1h3e A T 13: 23,562,226 (GRCm38) V47E probably damaging Het
Hmgcll1 G A 9: 76,130,345 (GRCm38) G174R probably damaging Het
Kbtbd11 T A 8: 15,029,118 (GRCm38) C572* probably null Het
Kynu A T 2: 43,634,989 (GRCm38) N315Y probably benign Het
Map1lc3b G A 8: 121,596,690 (GRCm38) E100K probably benign Het
Matn2 T A 15: 34,355,607 (GRCm38) Q33L possibly damaging Het
Mettl8 T C 2: 70,976,075 (GRCm38) probably null Het
Neto1 A T 18: 86,494,815 (GRCm38) N312Y probably damaging Het
Nhsl1 A G 10: 18,524,505 (GRCm38) D493G probably benign Het
Nup210l A G 3: 90,170,024 (GRCm38) E889G possibly damaging Het
Olfr1153 G A 2: 87,896,657 (GRCm38) V153I probably benign Het
Olfr1383 C A 11: 49,524,126 (GRCm38) S134R possibly damaging Het
Olfr1402 A G 3: 97,410,891 (GRCm38) F97L probably benign Het
Olfr209 A C 16: 59,361,585 (GRCm38) M211R possibly damaging Het
Olfr296-ps1 A G 7: 86,561,873 (GRCm38) Y47C unknown Het
Olfr420 C T 1: 174,159,175 (GRCm38) T134I probably benign Het
Olfr967 A T 9: 39,750,520 (GRCm38) M45L probably benign Het
Otx1 C A 11: 21,997,037 (GRCm38) A91S probably damaging Het
Phc2 A G 4: 128,709,647 (GRCm38) Y190C probably damaging Het
Platr25 T C 13: 62,672,997 (GRCm38) T347A possibly damaging Het
Plec T C 15: 76,174,853 (GRCm38) E3655G probably damaging Het
Plekhg3 A T 12: 76,576,845 (GRCm38) Q954L probably benign Het
Pnpla1 G A 17: 28,881,368 (GRCm38) G403E probably benign Het
Prdm4 G A 10: 85,907,830 (GRCm38) T187I possibly damaging Het
Prg4 T C 1: 150,454,766 (GRCm38) probably benign Het
Prpf18 G A 2: 4,633,447 (GRCm38) R312W probably damaging Het
Rnf213 T A 11: 119,414,548 (GRCm38) V535D probably damaging Het
Rtcb A T 10: 85,955,774 (GRCm38) N39K probably damaging Het
Slc4a3 G A 1: 75,554,697 (GRCm38) probably null Het
Szt2 A C 4: 118,374,290 (GRCm38) probably benign Het
Tfap2e A T 4: 126,721,864 (GRCm38) V259D probably damaging Het
Trav19 A G 14: 53,845,798 (GRCm38) D110G probably damaging Het
Ttc17 A C 2: 94,358,755 (GRCm38) C749W probably damaging Het
Ttc8 A G 12: 98,982,494 (GRCm38) K490E possibly damaging Het
Ube4b A G 4: 149,387,133 (GRCm38) S99P probably damaging Het
Vmn2r61 A T 7: 42,299,818 (GRCm38) D554V probably damaging Het
Vmn2r70 A T 7: 85,558,986 (GRCm38) V761E probably damaging Het
Vmn2r97 T C 17: 18,947,599 (GRCm38) I705T possibly damaging Het
Wwox G A 8: 114,488,952 (GRCm38) C155Y probably damaging Het
Zfp451 T C 1: 33,803,244 (GRCm38) probably benign Het
Other mutations in Ubqln3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00656:Ubqln3 APN 7 104,141,777 (GRCm38) missense probably benign 0.00
IGL00766:Ubqln3 APN 7 104,142,824 (GRCm38) missense probably benign 0.00
IGL01451:Ubqln3 APN 7 104,142,196 (GRCm38) missense possibly damaging 0.71
IGL01673:Ubqln3 APN 7 104,142,398 (GRCm38) missense probably benign 0.12
IGL01705:Ubqln3 APN 7 104,142,677 (GRCm38) missense probably damaging 1.00
IGL01988:Ubqln3 APN 7 104,142,882 (GRCm38) utr 5 prime probably benign
IGL02008:Ubqln3 APN 7 104,142,316 (GRCm38) missense probably damaging 1.00
IGL02072:Ubqln3 APN 7 104,141,299 (GRCm38) missense possibly damaging 0.69
IGL02546:Ubqln3 APN 7 104,142,518 (GRCm38) missense probably benign 0.02
IGL02657:Ubqln3 APN 7 104,141,963 (GRCm38) missense probably damaging 0.97
IGL02682:Ubqln3 APN 7 104,142,065 (GRCm38) missense probably benign 0.19
IGL02709:Ubqln3 APN 7 104,141,336 (GRCm38) missense probably benign 0.12
IGL03357:Ubqln3 APN 7 104,142,556 (GRCm38) missense probably benign
PIT4544001:Ubqln3 UTSW 7 104,141,343 (GRCm38) missense probably damaging 0.97
R0180:Ubqln3 UTSW 7 104,141,840 (GRCm38) missense probably damaging 1.00
R0845:Ubqln3 UTSW 7 104,142,068 (GRCm38) missense probably damaging 0.98
R1019:Ubqln3 UTSW 7 104,141,386 (GRCm38) missense probably benign 0.00
R1280:Ubqln3 UTSW 7 104,142,076 (GRCm38) missense possibly damaging 0.85
R1448:Ubqln3 UTSW 7 104,142,790 (GRCm38) missense probably damaging 1.00
R1550:Ubqln3 UTSW 7 104,141,546 (GRCm38) missense probably damaging 0.98
R1617:Ubqln3 UTSW 7 104,142,860 (GRCm38) missense possibly damaging 0.95
R1650:Ubqln3 UTSW 7 104,141,021 (GRCm38) missense possibly damaging 0.84
R2060:Ubqln3 UTSW 7 104,142,151 (GRCm38) missense probably damaging 1.00
R2246:Ubqln3 UTSW 7 104,142,311 (GRCm38) missense probably damaging 1.00
R2263:Ubqln3 UTSW 7 104,141,635 (GRCm38) nonsense probably null
R2366:Ubqln3 UTSW 7 104,141,049 (GRCm38) missense probably damaging 0.99
R4232:Ubqln3 UTSW 7 104,141,803 (GRCm38) missense probably benign 0.00
R4447:Ubqln3 UTSW 7 104,142,814 (GRCm38) missense probably benign 0.31
R4509:Ubqln3 UTSW 7 104,141,444 (GRCm38) missense probably damaging 0.97
R4604:Ubqln3 UTSW 7 104,142,491 (GRCm38) missense probably benign 0.00
R5416:Ubqln3 UTSW 7 104,141,672 (GRCm38) missense probably benign 0.34
R5617:Ubqln3 UTSW 7 104,142,433 (GRCm38) missense probably damaging 0.99
R5648:Ubqln3 UTSW 7 104,140,910 (GRCm38) missense probably damaging 0.99
R5722:Ubqln3 UTSW 7 104,141,467 (GRCm38) missense probably benign 0.00
R5723:Ubqln3 UTSW 7 104,141,467 (GRCm38) missense probably benign 0.00
R5724:Ubqln3 UTSW 7 104,141,467 (GRCm38) missense probably benign 0.00
R5819:Ubqln3 UTSW 7 104,141,467 (GRCm38) missense probably benign 0.00
R5820:Ubqln3 UTSW 7 104,141,467 (GRCm38) missense probably benign 0.00
R5966:Ubqln3 UTSW 7 104,141,699 (GRCm38) missense probably benign 0.03
R6260:Ubqln3 UTSW 7 104,142,317 (GRCm38) nonsense probably null
R6542:Ubqln3 UTSW 7 104,141,617 (GRCm38) missense probably benign 0.00
R6936:Ubqln3 UTSW 7 104,142,310 (GRCm38) missense probably damaging 1.00
R7023:Ubqln3 UTSW 7 104,141,423 (GRCm38) missense probably damaging 1.00
R7025:Ubqln3 UTSW 7 104,141,275 (GRCm38) missense probably benign 0.01
R7079:Ubqln3 UTSW 7 104,141,371 (GRCm38) missense probably benign 0.12
R7733:Ubqln3 UTSW 7 104,141,076 (GRCm38) missense probably damaging 0.98
R7764:Ubqln3 UTSW 7 104,141,236 (GRCm38) missense possibly damaging 0.52
R7919:Ubqln3 UTSW 7 104,141,192 (GRCm38) missense probably benign 0.03
R7961:Ubqln3 UTSW 7 104,142,590 (GRCm38) missense probably benign 0.00
R8009:Ubqln3 UTSW 7 104,142,590 (GRCm38) missense probably benign 0.00
R9619:Ubqln3 UTSW 7 104,141,846 (GRCm38) missense probably benign 0.05
R9652:Ubqln3 UTSW 7 104,142,755 (GRCm38) missense probably damaging 1.00
RF054:Ubqln3 UTSW 7 104,141,178 (GRCm38) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GCAGAGGGTCACAATTCTCTG -3'
(R):5'- TGGCTCAGCTCGTTGATGAC -3'

Sequencing Primer
(F):5'- AGAGGGTCACAATTCTCTGTCCTTG -3'
(R):5'- GTTGATGACCCCTTTATCCAGG -3'
Posted On 2018-03-15