Incidental Mutation 'R5299:Ubxn8'
ID 405568
Institutional Source Beutler Lab
Gene Symbol Ubxn8
Ensembl Gene ENSMUSG00000052906
Gene Name UBX domain protein 8
Synonyms D0H8S2298E, Rep-8, Rep8h, Ubxd6
MMRRC Submission 042882-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5299 (G1)
Quality Score 210
Status Not validated
Chromosome 8
Chromosomal Location 34109614-34131995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34131947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 7 (V7L)
Ref Sequence ENSEMBL: ENSMUSP00000092992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095349]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000095349
AA Change: V7L

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092992
Gene: ENSMUSG00000052906
AA Change: V7L

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.5%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,381,861 (GRCm39) I3838V probably damaging Het
Arid1a A T 4: 133,414,537 (GRCm39) D1231E unknown Het
Atxn1 A T 13: 45,710,730 (GRCm39) I734K probably benign Het
Axin1 A G 17: 26,392,708 (GRCm39) S330G probably damaging Het
Bend3 G A 10: 43,369,686 (GRCm39) probably null Het
Chodl C T 16: 78,738,296 (GRCm39) T88I probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dst A G 1: 34,174,173 (GRCm39) I179M probably damaging Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Exoc2 A T 13: 31,055,901 (GRCm39) probably null Het
Grk2 T C 19: 4,342,799 (GRCm39) E45G probably damaging Het
Ift81 T C 5: 122,745,119 (GRCm39) Y144C probably damaging Het
Ighv1-15 T C 12: 114,620,998 (GRCm39) D109G probably damaging Het
Igtp T C 11: 58,097,959 (GRCm39) W377R possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Map2k6 A G 11: 110,383,789 (GRCm39) D145G probably benign Het
Mcph1 T C 8: 18,702,596 (GRCm39) probably benign Het
Mdfi A G 17: 48,131,759 (GRCm39) V95A possibly damaging Het
Mical3 A G 6: 120,936,473 (GRCm39) L1351P possibly damaging Het
Nbas C T 12: 13,491,926 (GRCm39) Q1506* probably null Het
Nelfb A G 2: 25,100,757 (GRCm39) V128A probably benign Het
Otog A G 7: 45,938,275 (GRCm39) T1995A probably benign Het
Ppp1r7 A T 1: 93,280,348 (GRCm39) I139L probably benign Het
Ppp2r1b A G 9: 50,768,340 (GRCm39) D19G probably benign Het
Proca1 T C 11: 78,096,078 (GRCm39) S150P probably damaging Het
Rhof A G 5: 123,258,611 (GRCm39) V100A probably damaging Het
Rsbn1 G C 3: 103,821,806 (GRCm39) G14R probably benign Het
Serinc1 A G 10: 57,399,147 (GRCm39) I252T probably damaging Het
Skint4 A T 4: 111,993,203 (GRCm39) I309F possibly damaging Het
Slc12a3 A G 8: 95,078,417 (GRCm39) Y815C probably damaging Het
Slc25a24 A G 3: 109,073,668 (GRCm39) S424G probably benign Het
Spint2 G A 7: 28,963,151 (GRCm39) A49V probably damaging Het
Traf3ip3 T A 1: 192,860,483 (GRCm39) K480* probably null Het
Ube2g2 T C 10: 77,480,379 (GRCm39) S162P possibly damaging Het
Vmn1r200 T A 13: 22,579,945 (GRCm39) C249* probably null Het
Vmn1r38 T A 6: 66,753,682 (GRCm39) T145S probably benign Het
Wapl G A 14: 34,455,765 (GRCm39) probably null Het
Wfdc6a T C 2: 164,422,311 (GRCm39) N96S possibly damaging Het
Zfp503 A G 14: 22,035,507 (GRCm39) S470P probably benign 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
IGL02074:Ubxn8 APN 8 34,113,206 (GRCm39) missense possibly damaging 0.77
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
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
Predicted Primers PCR Primer
(F):5'- CCTGGCCAGAGATCAAGAGAAC -3'
(R):5'- TAAGCCACTGTCATCGTGACC -3'

Sequencing Primer
(F):5'- AAGAGAACTTTTTCCCGCGG -3'
(R):5'- GTCATCGTGACCAGCCTCAGATC -3'
Posted On 2016-07-22