Incidental Mutation 'IGL02940:Uxt'
ID 364466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uxt
Ensembl Gene ENSMUSG00000001134
Gene Name ubiquitously expressed prefoldin like chaperone
Synonyms 0910002B17Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02940
Quality Score
Status
Chromosome X
Chromosomal Location 20818162-20828259 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20826025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 66 (E66G)
Ref Sequence ENSEMBL: ENSMUSP00000115342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123836]
AlphaFold Q9WTZ0
Predicted Effect noncoding transcript
Transcript: ENSMUST00000001162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123462
Predicted Effect possibly damaging
Transcript: ENSMUST00000123836
AA Change: E66G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115342
Gene: ENSMUSG00000001134
AA Change: E66G

DomainStartEndE-ValueType
Pfam:Prefoldin 28 148 3.5e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150719
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions as a cofactor that modulates androgen receptor-dependent transcription, and also plays a critical role in tumor necrosis factor-induced apoptosis. Expression of this gene may play a role in tumorigenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice hemizygous or heterozygous for a germline null mutation display prenatal lethality. Male mice with testes-specific conditional loss of expression display azoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 T A 8: 95,760,084 (GRCm39) V101D possibly damaging Het
Brca1 T C 11: 101,380,738 (GRCm39) D1765G probably benign Het
Cadps2 T C 6: 23,496,808 (GRCm39) K450R probably benign Het
Cc2d2a A T 5: 43,885,636 (GRCm39) probably null Het
Dbh A G 2: 27,058,321 (GRCm39) Y163C probably damaging Het
Drc7 T A 8: 95,800,925 (GRCm39) I649N probably damaging Het
Dst G A 1: 34,328,668 (GRCm39) A7097T probably benign Het
Fbxo46 A G 7: 18,869,537 (GRCm39) H52R probably benign Het
Gm9944 T C 4: 144,179,709 (GRCm39) probably benign Het
Lsm14a G T 7: 34,070,596 (GRCm39) S100* probably null Het
Mrc2 C T 11: 105,231,997 (GRCm39) R850C probably damaging Het
Musk A G 4: 58,373,364 (GRCm39) D763G probably damaging Het
Ncan C T 8: 70,562,735 (GRCm39) V508I probably benign Het
Or4k35 A T 2: 111,100,073 (GRCm39) L213Q probably damaging Het
Pgls C T 8: 72,046,741 (GRCm39) S18L probably damaging Het
Phf20l1 A G 15: 66,467,000 (GRCm39) T98A probably damaging Het
Ppp1r36dn A C 12: 76,497,944 (GRCm39) noncoding transcript Het
Prdm13 T A 4: 21,683,421 (GRCm39) K180* probably null Het
Rai1 T C 11: 60,077,844 (GRCm39) V636A probably benign Het
Setd5 T C 6: 113,091,899 (GRCm39) F240S possibly damaging Het
Slco1a5 A G 6: 142,187,731 (GRCm39) L536P probably damaging Het
Stk39 C T 2: 68,051,243 (GRCm39) probably null Het
Tenm2 T C 11: 35,932,471 (GRCm39) T1707A probably damaging Het
Tlr2 A T 3: 83,743,781 (GRCm39) D767E probably benign Het
Tlr7 C T X: 166,090,830 (GRCm39) V219I probably benign Het
Tmprss7 A G 16: 45,476,818 (GRCm39) S815P probably damaging Het
Trav12-1 T A 14: 53,776,017 (GRCm39) W57R probably damaging Het
Vmn2r45 A T 7: 8,475,369 (GRCm39) M553K probably damaging Het
Vmn2r67 A G 7: 84,785,951 (GRCm39) W685R probably benign Het
Vstm5 A C 9: 15,168,962 (GRCm39) D144A probably damaging Het
Zfp592 A G 7: 80,674,575 (GRCm39) H513R probably damaging Het
Zfp830 T A 11: 82,656,295 (GRCm39) probably benign Het
Zfp990 A G 4: 145,261,492 (GRCm39) probably null Het
Posted On 2015-12-18