Incidental Mutation 'R0980:Ubap1'
ID 96965
Institutional Source Beutler Lab
Gene Symbol Ubap1
Ensembl Gene ENSMUSG00000028437
Gene Name ubiquitin-associated protein 1
Synonyms NAG20, 2700092A01Rik
MMRRC Submission 039106-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0980 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 41348996-41389766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 41379832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 349 (C349G)
Ref Sequence ENSEMBL: ENSMUSP00000103695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072866] [ENSMUST00000108060]
AlphaFold Q8BH48
Predicted Effect probably damaging
Transcript: ENSMUST00000072866
AA Change: C349G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072643
Gene: ENSMUSG00000028437
AA Change: C349G

DomainStartEndE-ValueType
coiled coil region 64 95 N/A INTRINSIC
low complexity region 333 348 N/A INTRINSIC
SCOP:d1ifya_ 387 430 5e-10 SMART
PDB:4AE4|B 388 502 1e-74 PDB
Blast:UBA 392 428 7e-14 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000108060
AA Change: C349G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103695
Gene: ENSMUSG00000028437
AA Change: C349G

DomainStartEndE-ValueType
coiled coil region 64 95 N/A INTRINSIC
low complexity region 333 348 N/A INTRINSIC
PDB:4AE4|B 362 441 2e-50 PDB
SCOP:d1exja1 394 437 1e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132235
SMART Domains Protein: ENSMUSP00000123491
Gene: ENSMUSG00000028437

DomainStartEndE-ValueType
SCOP:d1ifya_ 68 111 2e-11 SMART
PDB:4AE4|B 69 140 2e-44 PDB
Blast:UBA 73 109 7e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154529
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 89.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1a T C 9: 65,424,253 (GRCm39) H20R probably damaging Het
Arfgef3 T C 10: 18,467,866 (GRCm39) E1778G possibly damaging Het
Arhgef18 C T 8: 3,439,095 (GRCm39) probably benign Het
Blm A T 7: 80,149,706 (GRCm39) probably null Het
Ccr6 A G 17: 8,474,846 (GRCm39) E17G probably benign Het
Cep126 T C 9: 8,100,720 (GRCm39) T605A probably damaging Het
Cnga4 C A 7: 105,057,213 (GRCm39) P439T probably damaging Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Cyp2a5 A G 7: 26,538,431 (GRCm39) probably null Het
D430041D05Rik A G 2: 104,079,690 (GRCm39) V1131A probably damaging Het
Elp3 T C 14: 65,815,402 (GRCm39) T197A probably damaging Het
Etl4 A G 2: 20,806,378 (GRCm39) D1200G probably damaging Het
Gapt G C 13: 110,490,273 (GRCm39) T130R probably damaging Het
Gprin1 T C 13: 54,888,214 (GRCm39) D20G possibly damaging Het
Hltf T C 3: 20,145,665 (GRCm39) S432P probably benign Het
Immt T C 6: 71,851,310 (GRCm39) V54A probably benign Het
Jhy T G 9: 40,856,133 (GRCm39) Y118S possibly damaging Het
Kif23 C A 9: 61,844,046 (GRCm39) K154N possibly damaging Het
Krt79 T C 15: 101,846,442 (GRCm39) T169A probably damaging Het
Llgl2 A G 11: 115,740,827 (GRCm39) E443G probably damaging Het
Ltbp4 A T 7: 27,023,587 (GRCm39) C786S probably damaging Het
Mme A T 3: 63,247,550 (GRCm39) E278D probably benign Het
Nt5c2 G T 19: 46,887,317 (GRCm39) Q162K probably benign Het
Obscn A G 11: 58,888,887 (GRCm39) V2109A possibly damaging Het
Or5p64 GGTAG GG 7: 107,855,229 (GRCm39) probably benign Het
Or8k28 T C 2: 86,285,704 (GRCm39) T304A probably benign Het
Or8k38 T A 2: 86,488,209 (GRCm39) I198L probably benign Het
Osmr G T 15: 6,881,921 (GRCm39) N74K probably benign Het
Pes1 AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 11: 3,927,636 (GRCm39) probably benign Het
Pgd A T 4: 149,238,768 (GRCm39) probably null Het
Pld1 T A 3: 28,178,724 (GRCm39) S873T probably damaging Het
Polk A T 13: 96,620,272 (GRCm39) C664S probably benign Het
Proca1 A C 11: 78,095,773 (GRCm39) H135P probably benign Het
Ptgs2 A C 1: 149,980,061 (GRCm39) D333A probably damaging Het
Rexo5 T C 7: 119,423,035 (GRCm39) V289A probably damaging Het
Rnf125 T A 18: 21,112,117 (GRCm39) C49* probably null Het
Rprd2 C A 3: 95,673,216 (GRCm39) R729L probably damaging Het
Sipa1l1 A G 12: 82,388,994 (GRCm39) S407G possibly damaging Het
Slc35a4 C A 18: 36,815,834 (GRCm39) N221K probably damaging Het
Sorcs1 T C 19: 50,220,761 (GRCm39) D563G probably benign Het
Stk39 G T 2: 68,222,515 (GRCm39) T183K probably damaging Het
Tc2n T A 12: 101,644,835 (GRCm39) K264* probably null Het
Trim23 C T 13: 104,324,635 (GRCm39) R238W probably damaging Het
Trim66 C A 7: 109,054,877 (GRCm39) V1240L probably damaging Het
Ttn T C 2: 76,584,389 (GRCm39) T13913A probably damaging Het
Vmn1r170 A T 7: 23,305,759 (GRCm39) I54F possibly damaging Het
Other mutations in Ubap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Ubap1 APN 4 41,379,562 (GRCm39) missense probably benign
IGL01413:Ubap1 APN 4 41,387,333 (GRCm39) missense probably benign 0.04
IGL01418:Ubap1 APN 4 41,387,333 (GRCm39) missense probably benign 0.04
IGL01867:Ubap1 APN 4 41,379,236 (GRCm39) missense probably benign 0.00
IGL02535:Ubap1 APN 4 41,379,667 (GRCm39) nonsense probably null
R0090:Ubap1 UTSW 4 41,379,826 (GRCm39) missense probably damaging 0.98
R1941:Ubap1 UTSW 4 41,378,968 (GRCm39) missense probably damaging 0.96
R2049:Ubap1 UTSW 4 41,379,257 (GRCm39) missense probably damaging 1.00
R2142:Ubap1 UTSW 4 41,379,257 (GRCm39) missense probably damaging 1.00
R2310:Ubap1 UTSW 4 41,379,341 (GRCm39) missense possibly damaging 0.86
R3508:Ubap1 UTSW 4 41,379,163 (GRCm39) missense probably damaging 1.00
R4118:Ubap1 UTSW 4 41,371,767 (GRCm39) missense probably damaging 1.00
R4375:Ubap1 UTSW 4 41,371,850 (GRCm39) critical splice donor site probably null
R5053:Ubap1 UTSW 4 41,387,315 (GRCm39) nonsense probably null
R5121:Ubap1 UTSW 4 41,379,688 (GRCm39) missense probably benign
R6137:Ubap1 UTSW 4 41,379,262 (GRCm39) missense possibly damaging 0.60
R6820:Ubap1 UTSW 4 41,379,854 (GRCm39) missense probably benign 0.00
R7393:Ubap1 UTSW 4 41,379,764 (GRCm39) nonsense probably null
R8923:Ubap1 UTSW 4 41,379,170 (GRCm39) missense probably benign
R9096:Ubap1 UTSW 4 41,379,872 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CGAGCACTTTCCATAGCACATCCTG -3'
(R):5'- CTGGGTTTGATCCCTAGCACTGAAG -3'

Sequencing Primer
(F):5'- ACATCCTGCCTCCGAAGTG -3'
(R):5'- AGCTGCCCTCAGGAAAAG -3'
Posted On 2014-01-05