Incidental Mutation 'PIT4468001:Ubxn8'
ID 555643
Institutional Source Beutler Lab
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: 0.085) question?
Stock # PIT4468001 (G1)
Quality Score 103.008
Status Not validated
Chromosome 8
Chromosomal Location 34109614-34131995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34111569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 275 (S275C)
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 benign
Transcript: ENSMUST00000095349
AA Change: S275C

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000092992
Gene: ENSMUSG00000052906
AA Change: S275C

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: 93.0%
  • 3x: 90.7%
  • 10x: 85.2%
  • 20x: 72.8%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik C T 14: 4,348,940 (GRCm38) L34F probably damaging Het
Alms1 T C 6: 85,601,701 (GRCm39) probably null Het
Arhgap15 C A 2: 44,133,143 (GRCm39) Q350K probably damaging Het
Bbs1 T A 19: 4,956,190 (GRCm39) H35L probably benign Het
Cep85 T C 4: 133,876,008 (GRCm39) N468S probably damaging Het
Chd8 T C 14: 52,455,338 (GRCm39) I1050V possibly damaging Het
Chd8 A C 14: 52,445,453 (GRCm39) D1709E probably benign Het
Clec9a G A 6: 129,396,597 (GRCm39) probably null Het
Cyp2c70 T A 19: 40,153,806 (GRCm39) D261V probably damaging Het
Deup1 T C 9: 15,475,301 (GRCm39) N420D possibly damaging Het
Dpys T A 15: 39,720,601 (GRCm39) D53V probably damaging Het
Edem1 A G 6: 108,821,828 (GRCm39) E295G probably damaging Het
Farp2 G T 1: 93,456,499 (GRCm39) E61* probably null Het
Fat3 T G 9: 15,907,647 (GRCm39) D2785A probably benign Het
Fbxo30 T A 10: 11,166,700 (GRCm39) M474K possibly damaging Het
Gm13090 C A 4: 151,175,539 (GRCm39) P93Q unknown Het
Gm21976 A T 13: 98,443,535 (GRCm39) R229* probably null Het
Gpr108 A T 17: 57,554,563 (GRCm39) L25Q probably null Het
Hdac9 C A 12: 34,145,933 (GRCm39) V920F unknown Het
Ighv13-2 T C 12: 114,321,593 (GRCm39) S49G probably benign Het
Krt6a T C 15: 101,602,352 (GRCm39) Y111C probably damaging Het
Mib1 T C 18: 10,798,463 (GRCm39) S775P possibly damaging Het
Mki67 A G 7: 135,300,876 (GRCm39) I1386T probably benign Het
Mroh2b A G 15: 4,942,294 (GRCm39) E352G probably damaging Het
Nfya A G 17: 48,702,805 (GRCm39) M61T unknown Het
Ntn4 A G 10: 93,480,587 (GRCm39) T104A probably damaging Het
Numb G A 12: 83,854,921 (GRCm39) T135I probably damaging Het
Or4b12 C A 2: 90,096,564 (GRCm39) C70F probably benign Het
Or52ab4 A C 7: 102,987,807 (GRCm39) E182A probably damaging Het
Or5m5 A T 2: 85,814,792 (GRCm39) T203S probably benign Het
Parpbp A C 10: 87,979,935 (GRCm39) L7R probably benign Het
Pcdhb8 T C 18: 37,489,686 (GRCm39) Y455H probably damaging Het
Pcdhga10 T A 18: 37,880,936 (GRCm39) D232E probably damaging Het
Pcdhga9 T A 18: 37,872,527 (GRCm39) C785* probably null Het
Pkd1l3 A G 8: 110,391,131 (GRCm39) Y1913C possibly damaging Het
Pld4 T G 12: 112,734,256 (GRCm39) L374R probably damaging Het
Ppp1r13b A T 12: 111,805,136 (GRCm39) I350N probably benign Het
Rc3h2 C A 2: 37,289,651 (GRCm39) G387V probably damaging Het
Rfwd3 T C 8: 112,009,352 (GRCm39) H408R probably benign Het
Rpl3l A G 17: 24,954,457 (GRCm39) T173A probably benign Het
Sdad1 T C 5: 92,439,777 (GRCm39) D416G probably damaging Het
Srp72 C A 5: 77,142,053 (GRCm39) T430K probably benign Het
Steap1 C A 5: 5,786,642 (GRCm39) G265V probably damaging Het
Sulf2 A T 2: 165,922,720 (GRCm39) I670N probably benign Het
Tcf7l2 A T 19: 55,730,820 (GRCm39) D16V probably damaging Het
Tmem100 T A 11: 89,926,187 (GRCm39) S5T probably benign Het
Tnc C A 4: 63,882,904 (GRCm39) D1906Y probably damaging Het
Trak1 T C 9: 121,282,398 (GRCm39) S436P probably benign Het
Ttyh1 T C 7: 4,122,771 (GRCm39) Y40H possibly damaging Het
Umodl1 A G 17: 31,178,252 (GRCm39) Y76C probably damaging Het
Upk3b C T 5: 136,071,861 (GRCm39) T222M probably benign Het
Usp42 T A 5: 143,700,399 (GRCm39) K1208M probably damaging Het
Vmn2r25 A T 6: 123,816,557 (GRCm39) D341E probably benign Het
Vmn2r83 T G 10: 79,313,884 (GRCm39) L164R probably damaging Het
Vwa8 G T 14: 79,420,501 (GRCm39) R1734L probably damaging Het
Zfand2b G T 1: 75,146,476 (GRCm39) R117L 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
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
Predicted Primers PCR Primer
(F):5'- TTATAATGACAGGCCACAGACC -3'
(R):5'- ACAGAGCTATACAGTGCTACAGTG -3'

Sequencing Primer
(F):5'- CATCAGTGCAAAGCGGTCCTC -3'
(R):5'- TCACTGGAGGACATAGGAA -3'
Posted On 2019-06-07