Incidental Mutation 'R6694:Ubxn8'
ID 528500
Institutional Source Beutler Lab
Gene Symbol Ubxn8
Ensembl Gene ENSMUSG00000052906
Gene Name UBX domain protein 8
Synonyms D0H8S2298E, Rep-8, Rep8h, Ubxd6
MMRRC Submission 044812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R6694 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 34109614-34131995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34111572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 274 (Q274K)
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: Q274K

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092992
Gene: ENSMUSG00000052906
AA Change: Q274K

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
Meta Mutation Damage Score 0.0818 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency 95% (41/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 G A 6: 48,907,480 (GRCm39) S160N probably benign Het
Arap3 A C 18: 38,124,590 (GRCm39) probably null Het
Arhgap10 A G 8: 78,137,692 (GRCm39) F300L probably benign Het
Ccdc116 T C 16: 16,960,655 (GRCm39) E54G probably benign Het
Cd53 T A 3: 106,674,702 (GRCm39) I122F probably benign Het
Ctnnd1 T C 2: 84,454,849 (GRCm39) probably benign Het
Ddx60 A G 8: 62,490,104 (GRCm39) D1691G probably damaging Het
Dnah11 T C 12: 118,150,617 (GRCm39) probably null Het
Exoc1 T A 5: 76,697,399 (GRCm39) M392K probably damaging Het
Exoc3l G C 8: 106,017,122 (GRCm39) R622G probably benign Het
Grid2 C G 6: 63,908,031 (GRCm39) R224G possibly damaging Het
Kif20a A G 18: 34,758,579 (GRCm39) E16G probably damaging Het
Kit T C 5: 75,801,417 (GRCm39) V568A possibly damaging Het
Lhx4 T C 1: 155,580,456 (GRCm39) S257G probably benign Het
Med18 C T 4: 132,187,293 (GRCm39) V114I probably benign Het
Mrps30 C T 13: 118,523,497 (GRCm39) V92M possibly damaging Het
Mtrr C T 13: 68,712,452 (GRCm39) V645I probably benign Het
Nuak2 T G 1: 132,260,048 (GRCm39) S609A probably damaging Het
Or2y1g A T 11: 49,171,379 (GRCm39) I135F probably benign Het
Plk4 T C 3: 40,756,263 (GRCm39) V58A probably damaging Het
Polq T A 16: 36,835,535 (GRCm39) F145L probably null Het
Rab11fip2 T C 19: 59,925,707 (GRCm39) K170R probably damaging Het
Rapgef3 A G 15: 97,657,865 (GRCm39) V246A probably benign Het
Rc3h2 A G 2: 37,290,555 (GRCm39) S316P probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsf1 GCGGCGGC GCGGCGGCGACGGCGGC 7: 97,229,135 (GRCm39) probably benign Het
Sae1 G T 7: 16,102,461 (GRCm39) A171E probably damaging Het
Semp2l2b T C 10: 21,943,620 (GRCm39) E120G probably damaging Het
Setd5 T A 6: 113,120,669 (GRCm39) N959K probably benign Het
Siae T A 9: 37,528,119 (GRCm39) Y31N probably damaging Het
Sit1 C T 4: 43,483,311 (GRCm39) G51D probably damaging Het
Slc5a11 A G 7: 122,867,012 (GRCm39) I436V possibly damaging Het
Tcfl5 A G 2: 180,264,447 (GRCm39) S470P probably damaging Het
Timd2 A T 11: 46,561,779 (GRCm39) C288* probably null Het
Timeless T G 10: 128,075,868 (GRCm39) probably null Het
Usp29 A G 7: 6,965,276 (GRCm39) E373G probably benign Het
Zap70 A G 1: 36,821,598 (GRCm39) Y597C probably damaging Het
Zfp523 T G 17: 28,419,446 (GRCm39) Y195D probably damaging Het
Zfp74 G A 7: 29,634,559 (GRCm39) A383V probably damaging Het
Zfp93 A T 7: 23,975,338 (GRCm39) Q441L probably damaging Het
Zfp976 A T 7: 42,263,610 (GRCm39) Y76N 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
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
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'- TTATAATGACAGGCCACAGACC -3'
(R):5'- ACAGTGCTACAGTGATACATTCTG -3'

Sequencing Primer
(F):5'- CATCAGTGCAAAGCGGTCCTC -3'
(R):5'- TCGTCACTGGAGGACATAG -3'
Posted On 2018-07-24