Incidental Mutation 'IGL01588:Ubxn8'
ID91515
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubxn8
Ensembl Gene ENSMUSG00000052906
Gene NameUBX domain protein 8
SynonymsRep8h, Rep-8, D0H8S2298E, Ubxd6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL01588
Quality Score
Status
Chromosome8
Chromosomal Location33619586-33641967 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 33621559 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 269 (V269M)
Ref Sequence ENSEMBL: ENSMUSP00000092992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009774] [ENSMUST00000095349]
Predicted Effect probably benign
Transcript: ENSMUST00000009774
SMART Domains Protein: ENSMUSP00000009774
Gene: ENSMUSG00000009630

DomainStartEndE-ValueType
PP2Ac 23 293 2.48e-156 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000095349
AA Change: V269M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092992
Gene: ENSMUSG00000052906
AA Change: V269M

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
transmembrane domain 34 56 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
Pfam:UBX 192 271 3.8e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210807
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] p97 or VCP (valosin-containing protein) is a versatile ATPase complex, and many cofactors are required for the p97 functional diversity. This gene encodes one of the p97 cofactors. This cofactor is a transmembrane protein and localized in the endoplasmic reticulum (ER) membrane. It tethers p97 to the ER membrane via its UBX domain. The association of this cofactor with p97 facilitates efficient ER-associated degradation of misfolded proteins. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T A 1: 139,478,162 S1596T probably benign Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Csn2 T C 5: 87,694,649 H165R probably benign Het
Dido1 A G 2: 180,688,875 V260A probably benign Het
Ece1 C T 4: 137,957,206 probably benign Het
Garem1 T G 18: 21,129,797 R653S probably damaging Het
Gpatch2 A T 1: 187,230,794 S261C probably damaging Het
Ing4 A G 6: 125,043,986 N24D possibly damaging Het
Klhdc7a A T 4: 139,966,946 V230D probably damaging Het
Ly96 G A 1: 16,709,454 V116I probably benign Het
Myom1 C T 17: 71,117,437 T1427M possibly damaging Het
Nedd1 C A 10: 92,686,262 V638L probably benign Het
Olfr1161 T C 2: 88,025,073 V117A probably benign Het
Olfr653 C T 7: 104,579,943 S99F probably damaging Het
Olfr948 G A 9: 39,318,832 Q261* probably null Het
Pbx2 T C 17: 34,595,618 probably benign Het
Phlpp1 A T 1: 106,380,389 H1132L probably damaging Het
Plpp5 T A 8: 25,724,168 H237Q probably damaging Het
Stard13 C T 5: 151,045,237 R856H probably damaging Het
Sult1e1 T C 5: 87,576,243 K285R probably benign Het
Usp29 A T 7: 6,962,611 K484N probably benign Het
Whrn C T 4: 63,472,778 V80M probably damaging Het
Znhit6 A G 3: 145,596,207 probably benign Het
Other mutations in Ubxn8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Ubxn8 APN 8 33635305 missense probably benign 0.12
IGL01769:Ubxn8 APN 8 33629378 splice site probably benign
IGL02074:Ubxn8 APN 8 33623178 missense possibly damaging 0.77
PIT4468001:Ubxn8 UTSW 8 33621541 missense probably benign 0.10
R0098:Ubxn8 UTSW 8 33635365 splice site probably benign
R0098:Ubxn8 UTSW 8 33635365 splice site probably benign
R1167:Ubxn8 UTSW 8 33641901 missense probably damaging 0.97
R5203:Ubxn8 UTSW 8 33633611 missense probably damaging 0.98
R5299:Ubxn8 UTSW 8 33641919 missense possibly damaging 0.66
R6694:Ubxn8 UTSW 8 33621544 missense possibly damaging 0.59
R7266:Ubxn8 UTSW 8 33623203 missense probably damaging 0.99
R7526:Ubxn8 UTSW 8 33633607 missense probably benign 0.20
R8018:Ubxn8 UTSW 8 33623215 missense probably damaging 1.00
Posted On2013-12-09