Incidental Mutation 'IGL02498:Usp27x'
ID 295921
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp27x
Ensembl Gene ENSMUSG00000046269
Gene Name ubiquitin specific peptidase 27, X chromosome
Synonyms Sfc11
Accession Numbers
Essential gene? Not available question?
Stock # IGL02498
Quality Score
Status
Chromosome X
Chromosomal Location 7238830-7242069 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 7239780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115744] [ENSMUST00000178293] [ENSMUST00000191497]
AlphaFold Q8CEG8
Predicted Effect probably benign
Transcript: ENSMUST00000115744
SMART Domains Protein: ENSMUSP00000111409
Gene: ENSMUSG00000046269

DomainStartEndE-ValueType
Pfam:UCH 77 418 4.6e-64 PFAM
Pfam:UCH_1 78 402 6.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128858
Predicted Effect probably benign
Transcript: ENSMUST00000178293
SMART Domains Protein: ENSMUSP00000137509
Gene: ENSMUSG00000046269

DomainStartEndE-ValueType
Pfam:UCH 77 418 4.6e-64 PFAM
Pfam:UCH_1 78 402 6.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191497
SMART Domains Protein: ENSMUSP00000139402
Gene: ENSMUSG00000046269

DomainStartEndE-ValueType
Pfam:UCH 77 418 4.6e-64 PFAM
Pfam:UCH_1 78 402 6.2e-29 PFAM
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 member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to counteract anti-apoptotic signals in cancer cells. Mutations in this gene have been associated with X-linked mental retardation. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abcc9 A T 6: 142,617,265 (GRCm39) probably null Het
Abcg8 T C 17: 84,990,693 (GRCm39) W12R probably benign Het
Ablim1 A T 19: 57,140,751 (GRCm39) C155* probably null Het
Adam33 A G 2: 130,895,157 (GRCm39) C658R probably damaging Het
Adamts2 A G 11: 50,664,135 (GRCm39) H357R possibly damaging Het
Adamts2 G T 11: 50,668,023 (GRCm39) K528N probably damaging Het
Arhgef12 G A 9: 42,893,339 (GRCm39) P955S probably benign Het
Atp2b2 T A 6: 113,770,815 (GRCm39) I365F probably damaging Het
AW112010 T C 19: 11,025,701 (GRCm39) noncoding transcript Het
AY358078 T C 14: 52,040,944 (GRCm39) S88P probably benign Het
Cdc42bpg T C 19: 6,372,823 (GRCm39) L1504S probably benign Het
Cracdl T C 1: 37,662,926 (GRCm39) T991A probably benign Het
Dgkg T A 16: 22,367,441 (GRCm39) H593L probably damaging Het
Gm10463 T C 5: 32,288,742 (GRCm39) probably benign Het
Grm1 A T 10: 10,595,723 (GRCm39) L635Q probably damaging Het
Herc4 T C 10: 63,109,244 (GRCm39) C160R probably benign Het
Hs6st1 G A 1: 36,142,821 (GRCm39) R252H probably damaging Het
Litaf A G 16: 10,784,423 (GRCm39) V29A possibly damaging Het
Lmo7 G A 14: 102,044,918 (GRCm39) V57I probably benign Het
Loxl4 A T 19: 42,593,412 (GRCm39) L253Q probably benign Het
Mon2 C T 10: 122,870,235 (GRCm39) V458I probably benign Het
Ncstn G T 1: 171,896,159 (GRCm39) F506L probably benign Het
Nedd8 T A 14: 55,901,273 (GRCm39) D21V probably damaging Het
Oas1c T C 5: 120,943,591 (GRCm39) T183A possibly damaging Het
Pcsk5 A T 19: 17,488,920 (GRCm39) Y967N probably damaging Het
Phf2 A G 13: 48,958,715 (GRCm39) S936P unknown Het
Pkd1 T C 17: 24,804,753 (GRCm39) I3159T possibly damaging Het
Prrt3 C A 6: 113,474,788 (GRCm39) V145F possibly damaging Het
Prx T A 7: 27,217,497 (GRCm39) V666E probably damaging Het
Rapgef2 C T 3: 78,974,060 (GRCm39) V1577M probably damaging Het
Sesn3 T C 9: 14,217,564 (GRCm39) probably benign Het
Shoc2 T A 19: 54,016,207 (GRCm39) L407* probably null Het
Slc6a12 A G 6: 121,338,029 (GRCm39) M435V probably benign Het
Smarcc1 C T 9: 110,020,002 (GRCm39) T623I probably damaging Het
Snx14 A G 9: 88,289,517 (GRCm39) L245S probably damaging Het
Son T A 16: 91,453,713 (GRCm39) M820K probably damaging Het
Sorcs1 T C 19: 50,666,606 (GRCm39) T101A probably benign Het
Stoml2 C A 4: 43,031,045 (GRCm39) V37L probably benign Het
Syde2 T A 3: 145,704,444 (GRCm39) H465Q probably benign Het
Tmem164 T A X: 141,589,044 (GRCm39) V40D possibly damaging Het
Trim37 A G 11: 87,075,876 (GRCm39) E494G probably benign Het
Triobp A G 15: 78,845,243 (GRCm39) D195G probably benign Het
Unc79 G A 12: 103,137,837 (GRCm39) V2427M probably damaging Het
Vmn2r113 T A 17: 23,177,349 (GRCm39) V711D probably damaging Het
Zfp940 T C 7: 29,546,376 (GRCm39) T7A probably damaging Het
Posted On 2015-04-16