Incidental Mutation 'R8018:Ubxn8'
ID 617220
Institutional Source Beutler Lab
Gene Symbol Ubxn8
Ensembl Gene ENSMUSG00000052906
Gene Name UBX domain protein 8
Synonyms D0H8S2298E, Rep-8, Rep8h, Ubxd6
MMRRC Submission 067458-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R8018 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 34109614-34131995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34113243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 204 (C204R)
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 probably damaging
Transcript: ENSMUST00000095349
AA Change: C204R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092992
Gene: ENSMUSG00000052906
AA Change: C204R

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
Meta Mutation Damage Score 0.3607 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (45/46)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,880,991 (GRCm39) T146I unknown Het
Abca16 A G 7: 120,132,866 (GRCm39) E1265G probably benign Het
Adar T C 3: 89,654,882 (GRCm39) S924P probably damaging Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
AI429214 A T 8: 37,460,820 (GRCm39) probably benign Het
Ankmy1 A T 1: 92,814,003 (GRCm39) L392Q probably benign Het
Anxa3 A T 5: 96,968,288 (GRCm39) I114F probably damaging Het
Ccdc158 T C 5: 92,771,260 (GRCm39) D985G possibly damaging Het
Cndp2 C T 18: 84,686,727 (GRCm39) V432I probably benign Het
Ctbp2 T C 7: 132,616,095 (GRCm39) K280R probably benign Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dnaaf4 T A 9: 72,879,598 (GRCm39) probably benign Het
Dynap T C 18: 70,375,093 (GRCm39) T41A possibly damaging Het
Elfn2 A G 15: 78,557,968 (GRCm39) L193P probably damaging Het
Fcrl2 A T 3: 87,166,933 (GRCm39) L20* probably null Het
Flcn T C 11: 59,684,948 (GRCm39) D501G probably damaging Het
Gmip A G 8: 70,268,143 (GRCm39) E399G probably benign Het
Grm7 A G 6: 111,184,737 (GRCm39) E356G probably benign Het
Hs3st2 A G 7: 121,099,639 (GRCm39) probably null Het
Kcnh2 G A 5: 24,525,014 (GRCm39) S1158L probably damaging Het
Lancl2 A G 6: 57,690,078 (GRCm39) T104A probably damaging Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Mthfd2l T A 5: 91,107,672 (GRCm39) I178N probably damaging Het
Nbeal2 G T 9: 110,458,225 (GRCm39) probably benign Het
Niban1 A T 1: 151,593,006 (GRCm39) K564* probably null Het
Nipal3 C T 4: 135,174,659 (GRCm39) R364H possibly damaging Het
Or2b4 A G 17: 38,116,038 (GRCm39) M1V probably null Het
Oxa1l A G 14: 54,600,757 (GRCm39) I77V not run Het
Phf10 T A 17: 15,174,378 (GRCm39) Q233H possibly damaging Het
Pias2 T A 18: 77,216,654 (GRCm39) N288K probably benign Het
Pramel43 T C 5: 94,761,839 (GRCm39) N244S probably benign Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Ptprd T C 4: 76,003,757 (GRCm39) T1010A probably damaging Het
Ralgapa2 T C 2: 146,182,311 (GRCm39) D1676G probably damaging Het
Rapgefl1 T G 11: 98,731,166 (GRCm39) probably null Het
Rrp7a C T 15: 83,001,125 (GRCm39) E269K possibly damaging Het
Ryr3 A C 2: 112,508,777 (GRCm39) M3399R probably damaging Het
Secisbp2l C A 2: 125,587,829 (GRCm39) R762L probably damaging Het
Smad7 T G 18: 75,502,355 (GRCm39) L110R possibly damaging Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Tcea3 T G 4: 135,985,229 (GRCm39) probably benign Het
Tdrd9 T C 12: 111,999,180 (GRCm39) V765A probably benign Het
Tdrd9 C T 12: 112,010,822 (GRCm39) R1130W probably damaging Het
Tia1 C T 6: 86,402,034 (GRCm39) P189S probably benign Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Vmn1r76 A G 7: 11,664,810 (GRCm39) S135P probably damaging Het
Vps18 T A 2: 119,124,492 (GRCm39) L473H probably damaging Het
Zfp444 A G 7: 6,191,142 (GRCm39) T108A 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
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
Predicted Primers PCR Primer
(F):5'- AAACCCTCAGTCTGCAATGC -3'
(R):5'- AGAGTTCCCATCTGGACTTCTG -3'

Sequencing Primer
(F):5'- CAATGCAGAACCTTCACATTGTCTG -3'
(R):5'- GGTGACCACTGTAGCTTACG -3'
Posted On 2020-01-23