Incidental Mutation 'IGL01988:Ubqln3'
ID182016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubqln3
Ensembl Gene ENSMUSG00000051618
Gene Nameubiquilin 3
Synonyms4933400K24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #IGL01988
Quality Score
Status
Chromosome7
Chromosomal Location104140623-104143279 bp(-) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) G to A at 104142882 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000055229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057254]
Predicted Effect probably benign
Transcript: ENSMUST00000057254
SMART Domains Protein: ENSMUSP00000055229
Gene: ENSMUSG00000051618

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
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 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,225,111 S493R probably benign Het
Abca17 T C 17: 24,334,255 N161D probably damaging Het
Ace2 C A X: 164,163,992 N290K possibly damaging Het
Adam26a G A 8: 43,569,170 P428S possibly damaging Het
Adgrv1 T C 13: 81,557,309 R1461G probably damaging Het
Arhgef10l T C 4: 140,578,361 probably benign Het
Bicc1 A G 10: 70,956,176 V334A probably damaging Het
C8a T C 4: 104,826,694 Y408C probably damaging Het
Col24a1 T C 3: 145,524,167 probably null Het
Copa T A 1: 172,118,264 N931K probably benign Het
Cr1l A G 1: 195,117,550 M272T probably damaging Het
Dcaf12 T C 4: 41,298,299 N283S probably benign Het
Dnttip2 T A 3: 122,276,295 S386R probably benign Het
Fbll1 G T 11: 35,797,901 D178E probably benign Het
Fgd6 A G 10: 94,074,335 probably benign Het
Fyn T A 10: 39,533,921 L408* probably null Het
Gkn2 T C 6: 87,379,275 V176A probably benign Het
Gm10764 G A 10: 87,291,091 C120Y unknown Het
Gpr19 A T 6: 134,869,284 F442I probably damaging Het
Herc1 A G 9: 66,488,075 probably benign Het
Il7 A G 3: 7,604,066 Y37H possibly damaging Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Kif1c A G 11: 70,704,936 D156G probably damaging Het
Lrch1 T C 14: 74,795,373 probably benign Het
Nedd1 G T 10: 92,714,159 T88K probably benign Het
Nlrc3 T G 16: 3,953,939 S875R probably benign Het
Olfr1251 T A 2: 89,667,080 I269F probably benign Het
Optc A G 1: 133,906,929 probably null Het
Pcdh17 T A 14: 84,446,622 D176E probably damaging Het
Pde1b A G 15: 103,524,856 probably null Het
Phf11a A T 14: 59,277,358 D291E probably damaging Het
Slc30a8 A T 15: 52,335,205 I349L probably benign Het
Spty2d1 T A 7: 46,997,610 S524C probably damaging Het
Syndig1 T C 2: 150,003,170 probably benign Het
Syvn1 G A 19: 6,052,407 A502T probably benign Het
Tenm2 A G 11: 36,027,251 L1894P probably damaging Het
Tmem176a T A 6: 48,842,620 V11E possibly damaging Het
Tpr G T 1: 150,426,999 probably null Het
Txnrd2 T C 16: 18,456,018 probably benign Het
Vmn1r6 C T 6: 57,002,665 T82I probably damaging Het
Wdfy4 C T 14: 33,076,480 E1990K possibly damaging Het
Zdhhc7 T C 8: 120,082,590 R293G probably benign Het
Zeb1 T A 18: 5,759,037 L148* probably null Het
Other mutations in Ubqln3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00656:Ubqln3 APN 7 104141777 missense probably benign 0.00
IGL00766:Ubqln3 APN 7 104142824 missense probably benign 0.00
IGL01451:Ubqln3 APN 7 104142196 missense possibly damaging 0.71
IGL01673:Ubqln3 APN 7 104142398 missense probably benign 0.12
IGL01705:Ubqln3 APN 7 104142677 missense probably damaging 1.00
IGL02008:Ubqln3 APN 7 104142316 missense probably damaging 1.00
IGL02072:Ubqln3 APN 7 104141299 missense possibly damaging 0.69
IGL02546:Ubqln3 APN 7 104142518 missense probably benign 0.02
IGL02657:Ubqln3 APN 7 104141963 missense probably damaging 0.97
IGL02682:Ubqln3 APN 7 104142065 missense probably benign 0.19
IGL02709:Ubqln3 APN 7 104141336 missense probably benign 0.12
IGL03357:Ubqln3 APN 7 104142556 missense probably benign
PIT4544001:Ubqln3 UTSW 7 104141343 missense probably damaging 0.97
R0180:Ubqln3 UTSW 7 104141840 missense probably damaging 1.00
R0845:Ubqln3 UTSW 7 104142068 missense probably damaging 0.98
R1019:Ubqln3 UTSW 7 104141386 missense probably benign 0.00
R1280:Ubqln3 UTSW 7 104142076 missense possibly damaging 0.85
R1448:Ubqln3 UTSW 7 104142790 missense probably damaging 1.00
R1550:Ubqln3 UTSW 7 104141546 missense probably damaging 0.98
R1617:Ubqln3 UTSW 7 104142860 missense possibly damaging 0.95
R1650:Ubqln3 UTSW 7 104141021 missense possibly damaging 0.84
R2060:Ubqln3 UTSW 7 104142151 missense probably damaging 1.00
R2246:Ubqln3 UTSW 7 104142311 missense probably damaging 1.00
R2263:Ubqln3 UTSW 7 104141635 nonsense probably null
R2366:Ubqln3 UTSW 7 104141049 missense probably damaging 0.99
R4232:Ubqln3 UTSW 7 104141803 missense probably benign 0.00
R4447:Ubqln3 UTSW 7 104142814 missense probably benign 0.31
R4509:Ubqln3 UTSW 7 104141444 missense probably damaging 0.97
R4604:Ubqln3 UTSW 7 104142491 missense probably benign 0.00
R5416:Ubqln3 UTSW 7 104141672 missense probably benign 0.34
R5617:Ubqln3 UTSW 7 104142433 missense probably damaging 0.99
R5648:Ubqln3 UTSW 7 104140910 missense probably damaging 0.99
R5722:Ubqln3 UTSW 7 104141467 missense probably benign 0.00
R5723:Ubqln3 UTSW 7 104141467 missense probably benign 0.00
R5724:Ubqln3 UTSW 7 104141467 missense probably benign 0.00
R5819:Ubqln3 UTSW 7 104141467 missense probably benign 0.00
R5820:Ubqln3 UTSW 7 104141467 missense probably benign 0.00
R5966:Ubqln3 UTSW 7 104141699 missense probably benign 0.03
R6260:Ubqln3 UTSW 7 104142317 nonsense probably null
R6272:Ubqln3 UTSW 7 104142178 missense probably damaging 1.00
R6542:Ubqln3 UTSW 7 104141617 missense probably benign 0.00
R6936:Ubqln3 UTSW 7 104142310 missense probably damaging 1.00
R7023:Ubqln3 UTSW 7 104141423 missense probably damaging 1.00
R7025:Ubqln3 UTSW 7 104141275 missense probably benign 0.01
R7079:Ubqln3 UTSW 7 104141371 missense probably benign 0.12
R7733:Ubqln3 UTSW 7 104141076 missense probably damaging 0.98
R7764:Ubqln3 UTSW 7 104141236 missense possibly damaging 0.52
R8009:Ubqln3 UTSW 7 104142590 missense probably benign 0.00
RF054:Ubqln3 UTSW 7 104141178 frame shift probably null
Posted On2014-05-07