Incidental Mutation 'IGL02074:Ubxn8'
ID 185927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubxn8
Ensembl Gene ENSMUSG00000052906
Gene Name UBX domain protein 8
Synonyms D0H8S2298E, Rep-8, Rep8h, Ubxd6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL02074
Quality Score
Status
Chromosome 8
Chromosomal Location 34109614-34131995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34113206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 216 (K216R)
Ref Sequence ENSEMBL: ENSMUSP00000092992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009774] [ENSMUST00000095349]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000009774
SMART Domains Protein: ENSMUSP00000009774
Gene: ENSMUSG00000009630

DomainStartEndE-ValueType
PP2Ac 23 293 2.48e-156 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000095349
AA Change: K216R

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092992
Gene: ENSMUSG00000052906
AA Change: K216R

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,184,176 (GRCm39) S974G probably benign Het
Abi2 T C 1: 60,486,466 (GRCm39) V209A probably damaging Het
Ankrd33b C A 15: 31,297,807 (GRCm39) V317F probably damaging Het
Arcn1 A G 9: 44,670,309 (GRCm39) C106R probably benign Het
Arhgap35 T C 7: 16,296,980 (GRCm39) H695R probably benign Het
Bag4 G T 8: 26,259,383 (GRCm39) T272K possibly damaging Het
Cnot6 T C 11: 49,580,070 (GRCm39) H74R probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dab1 C A 4: 104,585,051 (GRCm39) A397D possibly damaging Het
Dhrs7b C A 11: 60,742,580 (GRCm39) Q91K probably benign Het
Dixdc1 C T 9: 50,613,317 (GRCm39) V212M probably benign Het
Dnaaf11 T C 15: 66,361,339 (GRCm39) N54S probably damaging Het
Eea1 A G 10: 95,873,349 (GRCm39) E1137G probably damaging Het
Ercc8 T C 13: 108,295,318 (GRCm39) probably benign Het
Fam163b C T 2: 27,003,570 (GRCm39) C28Y probably damaging Het
Fgd6 A T 10: 93,963,297 (GRCm39) I1132F probably damaging Het
Grin1 C T 2: 25,188,514 (GRCm39) V432I possibly damaging Het
Herc1 A G 9: 66,358,265 (GRCm39) S2449G probably benign Het
Herc2 T A 7: 55,737,192 (GRCm39) probably benign Het
L1cam A G X: 72,906,619 (GRCm39) W275R probably damaging Het
Magi1 A G 6: 93,722,579 (GRCm39) V660A probably damaging Het
Mctp2 A T 7: 71,811,006 (GRCm39) I656K probably damaging Het
Mtcl1 T C 17: 66,673,463 (GRCm39) D633G possibly damaging Het
Nexmif A T X: 103,131,497 (GRCm39) M140K probably damaging Het
Or55b3 G T 7: 102,126,679 (GRCm39) H133N probably benign Het
Or7g33 A T 9: 19,449,148 (GRCm39) I26N possibly damaging Het
Or8d23 A T 9: 38,841,979 (GRCm39) T171S probably benign Het
R3hdm1 A G 1: 128,096,775 (GRCm39) T146A possibly damaging Het
Rnf123 A T 9: 107,944,088 (GRCm39) L508Q probably damaging Het
Scaf4 G T 16: 90,039,808 (GRCm39) P812T unknown Het
Slc45a2 A G 15: 11,000,903 (GRCm39) M1V probably null Het
Ttr T C 18: 20,799,580 (GRCm39) V46A probably benign Het
Vmn2r109 T C 17: 20,774,603 (GRCm39) I251V probably benign Het
Xlr A T X: 52,798,101 (GRCm39) probably benign Het
Zfp142 T G 1: 74,609,022 (GRCm39) H1488P probably damaging Het
Other mutations in Ubxn8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Ubxn8 APN 8 34,125,333 (GRCm39) missense probably benign 0.12
IGL01588:Ubxn8 APN 8 34,111,587 (GRCm39) missense probably damaging 1.00
IGL01769:Ubxn8 APN 8 34,119,406 (GRCm39) splice site probably benign
PIT4468001:Ubxn8 UTSW 8 34,111,569 (GRCm39) missense probably benign 0.10
R0098:Ubxn8 UTSW 8 34,125,393 (GRCm39) splice site probably benign
R0098:Ubxn8 UTSW 8 34,125,393 (GRCm39) splice site probably benign
R1167:Ubxn8 UTSW 8 34,131,929 (GRCm39) missense probably damaging 0.97
R5203:Ubxn8 UTSW 8 34,123,639 (GRCm39) missense probably damaging 0.98
R5299:Ubxn8 UTSW 8 34,131,947 (GRCm39) missense possibly damaging 0.66
R6694:Ubxn8 UTSW 8 34,111,572 (GRCm39) missense possibly damaging 0.59
R7266:Ubxn8 UTSW 8 34,113,231 (GRCm39) missense probably damaging 0.99
R7526:Ubxn8 UTSW 8 34,123,635 (GRCm39) missense probably benign 0.20
R7938:Ubxn8 UTSW 8 34,111,712 (GRCm39) missense probably damaging 1.00
R8018:Ubxn8 UTSW 8 34,113,243 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07