Incidental Mutation 'IGL00476:Ubxn8'
ID14696
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: 0.127) question?
Stock #IGL00476
Quality Score
Status
Chromosome8
Chromosomal Location33619586-33641967 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33635305 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 89 (E89G)
Ref Sequence ENSEMBL: ENSMUSP00000092992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095349]
Predicted Effect probably benign
Transcript: ENSMUST00000095349
AA Change: E89G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000092992
Gene: ENSMUSG00000052906
AA Change: E89G

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610002M06Rik A C X: 107,816,160 probably benign Het
4931414P19Rik T C 14: 54,595,578 T47A possibly damaging Het
Adgrv1 A G 13: 81,489,074 F3416S probably damaging Het
Arhgap42 T C 9: 9,006,343 D684G probably damaging Het
Atp13a1 T C 8: 69,796,897 L270P probably damaging Het
Baz2b T C 2: 59,913,739 N1474S probably benign Het
Chrna6 A G 8: 27,406,532 I439T probably damaging Het
Cylc2 T C 4: 51,228,157 M76T probably damaging Het
Ddx19a T C 8: 110,976,470 K445R probably benign Het
Dennd4a A T 9: 64,911,762 Y1733F probably damaging Het
Dopey2 G A 16: 93,800,026 probably benign Het
Dpcr1 G T 17: 35,638,102 H202N possibly damaging Het
Ephb3 T A 16: 21,220,415 probably null Het
Gpc2 G A 5: 138,274,309 probably benign Het
Ift172 A G 5: 31,275,896 Y550H probably damaging Het
Kat2a G A 11: 100,705,384 R782W probably damaging Het
Ldhd G T 8: 111,628,638 R238S possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mipep T G 14: 60,827,361 L388R probably damaging Het
Naa35 A G 13: 59,630,055 D610G probably damaging Het
Nae1 A T 8: 104,526,381 L137Q possibly damaging Het
Nt5dc3 T C 10: 86,833,974 probably null Het
Nyx T C X: 13,487,025 F373L possibly damaging Het
Scaf11 A T 15: 96,418,580 D1034E possibly damaging Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Taar7a A T 10: 23,992,396 probably benign Het
Tcf23 G T 5: 30,973,525 C169F probably benign Het
Trim7 A T 11: 48,848,078 N308I probably benign Het
Other mutations in Ubxn8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01588:Ubxn8 APN 8 33621559 missense probably damaging 1.00
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 On2012-12-06