Incidental Mutation 'R8923:Ubap1'
ID 679382
Institutional Source Beutler Lab
Gene Symbol Ubap1
Ensembl Gene ENSMUSG00000028437
Gene Name ubiquitin-associated protein 1
Synonyms NAG20, 2700092A01Rik
MMRRC Submission 068768-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8923 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 41348996-41389766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41379170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 128 (N128S)
Ref Sequence ENSEMBL: ENSMUSP00000072643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072866] [ENSMUST00000108060]
AlphaFold Q8BH48
Predicted Effect probably benign
Transcript: ENSMUST00000072866
AA Change: N128S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072643
Gene: ENSMUSG00000028437
AA Change: N128S

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 benign
Transcript: ENSMUST00000108060
AA Change: N128S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103695
Gene: ENSMUSG00000028437
AA Change: N128S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (53/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 A G 7: 144,204,288 (GRCm39) Y308H possibly damaging Het
Ano6 T C 15: 95,811,428 (GRCm39) I176T probably damaging Het
Ap3b2 T C 7: 81,126,931 (GRCm39) E273G probably benign Het
Arid1a A G 4: 133,412,304 (GRCm39) I1245T unknown Het
Ash1l T C 3: 88,892,974 (GRCm39) S1618P possibly damaging Het
Atp5f1e G T 2: 174,304,309 (GRCm39) S49* probably null Het
Bsdc1 C T 4: 129,355,405 (GRCm39) probably benign Het
Ccni T C 5: 93,335,943 (GRCm39) H152R probably damaging Het
Cdk5 A G 5: 24,625,284 (GRCm39) V208A possibly damaging Het
Cmtm5 G A 14: 55,176,345 (GRCm39) D137N probably damaging Het
Cyp3a41b A G 5: 145,521,448 (GRCm39) M1T probably null Het
Cyp3a44 A T 5: 145,736,171 (GRCm39) V93E probably damaging Het
Dhrs2 A T 14: 55,478,309 (GRCm39) I241F probably benign Het
Dip2c A G 13: 9,673,901 (GRCm39) T1114A probably damaging Het
Dsel T C 1: 111,788,284 (GRCm39) I750M possibly damaging Het
Dync2h1 T C 9: 7,168,515 (GRCm39) K398E probably benign Het
Efcab12 G C 6: 115,787,982 (GRCm39) T660S possibly damaging Het
Ep400 A G 5: 110,831,864 (GRCm39) L2126P unknown Het
Ercc1 T A 7: 19,081,062 (GRCm39) probably benign Het
Flnc G T 6: 29,452,236 (GRCm39) D1687Y probably damaging Het
Frrs1 A T 3: 116,696,070 (GRCm39) I530F possibly damaging Het
Gp5 G T 16: 30,128,222 (GRCm39) L151I probably damaging Het
H2-Q5 A G 17: 35,613,982 (GRCm39) D177G Het
Itgal A T 7: 126,895,533 (GRCm39) probably benign Het
Klhl33 A T 14: 51,129,882 (GRCm39) C277* probably null Het
Lefty1 T A 1: 180,765,318 (GRCm39) C295* probably null Het
Lmo7 A T 14: 102,137,679 (GRCm39) T794S probably benign Het
Mss51 A G 14: 20,537,177 (GRCm39) M97T possibly damaging Het
Mtmr11 C T 3: 96,072,188 (GRCm39) P262S probably damaging Het
Muc15 A T 2: 110,562,212 (GRCm39) N216I probably damaging Het
Muc16 A T 9: 18,549,972 (GRCm39) D5440E probably benign Het
Myt1l A G 12: 29,960,800 (GRCm39) K1038E unknown Het
Naa15 G A 3: 51,367,443 (GRCm39) V539M probably damaging Het
Or10al2 A T 17: 37,983,702 (GRCm39) I263F probably benign Het
Or1e26 T C 11: 73,480,076 (GRCm39) I163V probably benign Het
Or5ac20 G C 16: 59,104,399 (GRCm39) L154V probably benign Het
Parpbp C T 10: 87,947,474 (GRCm39) V387I probably benign Het
Pbxip1 T C 3: 89,352,921 (GRCm39) I189T possibly damaging Het
Prkci T A 3: 31,095,250 (GRCm39) Y111* probably null Het
Prkd2 C G 7: 16,599,682 (GRCm39) T715R probably damaging Het
Rab40c A C 17: 26,102,664 (GRCm39) S262A probably benign Het
Rad51d A G 11: 82,773,798 (GRCm39) L164P probably damaging Het
Rgs22 T A 15: 36,093,106 (GRCm39) K513I probably damaging Het
Rubcn G T 16: 32,646,049 (GRCm39) T828K probably damaging Het
Sdha G A 13: 74,487,179 (GRCm39) T203M probably damaging Het
Sesn3 T C 9: 14,217,562 (GRCm39) probably null Het
Spag8 T A 4: 43,651,471 (GRCm39) T468S probably damaging Het
Spdl1 T C 11: 34,704,478 (GRCm39) K452E possibly damaging Het
Stat5a T C 11: 100,771,308 (GRCm39) F597S Het
Sult1b1 A C 5: 87,662,893 (GRCm39) F269C probably damaging Het
Utp20 G A 10: 88,627,604 (GRCm39) Q954* probably null Het
Vmn1r173 T A 7: 23,401,768 (GRCm39) M1K probably null Het
Wdfy1 A G 1: 79,684,017 (GRCm39) S373P probably benign 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
R0980:Ubap1 UTSW 4 41,379,832 (GRCm39) missense probably damaging 1.00
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
R9096:Ubap1 UTSW 4 41,379,872 (GRCm39) critical splice donor site probably null
Predicted Primers
Posted On 2021-08-02