|Institutional Source||Beutler Lab|
|Gene Name||ubiquilin 3|
|Is this an essential gene?||Probably non essential (E-score: 0.125)|
|Stock #||R0180 (G1)|
|Chromosomal Location||104140623-104143279 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 104141840 bp|
|Amino Acid Change||Tyrosine to Histidine at position 348 (Y348H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055229 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057254] [ENSMUST00000138055]|
|Predicted Effect||probably damaging
AA Change: Y348H
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y348H
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2224|
|Coding Region Coverage||
|Validation Efficiency||77% (53/69)|
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||
|Other mutations in Ubqln3||
(F):5'- TGCATCATGTAGGCTTCCACCTTG -3'
(R):5'- AATTGTGACCCTCTGCCCAACC -3'
(F):5'- AAAGCTGGGCATGATGACTTTC -3'
(R):5'- CCCTGGACTTCCACATATGG -3'