Incidental Mutation 'R6137:Ubap1'
ID 488391
Institutional Source Beutler Lab
Gene Symbol Ubap1
Ensembl Gene ENSMUSG00000028437
Gene Name ubiquitin-associated protein 1
Synonyms NAG20, 2700092A01Rik
MMRRC Submission 044284-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6137 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 41348996-41389766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 41379262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 159 (F159V)
Ref Sequence ENSEMBL: ENSMUSP00000103695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072866] [ENSMUST00000108060]
AlphaFold Q8BH48
Predicted Effect possibly damaging
Transcript: ENSMUST00000072866
AA Change: F159V

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072643
Gene: ENSMUSG00000028437
AA Change: F159V

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 possibly damaging
Transcript: ENSMUST00000108060
AA Change: F159V

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103695
Gene: ENSMUSG00000028437
AA Change: F159V

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
Meta Mutation Damage Score 0.6907 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 98% (58/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik G T 7: 130,959,342 (GRCm39) H165Q probably damaging Het
Akap13 T A 7: 75,327,164 (GRCm39) F721Y probably damaging Het
Akap6 A T 12: 53,187,137 (GRCm39) D1517V probably damaging Het
Amigo3 T A 9: 107,930,927 (GRCm39) S117T probably damaging Het
Atf7ip2 T A 16: 10,019,275 (GRCm39) N34K probably damaging Het
Cacnb1 A C 11: 97,896,608 (GRCm39) V351G probably damaging Het
Casp9 T A 4: 141,532,660 (GRCm39) probably null Het
Ccdc51 C T 9: 108,918,483 (GRCm39) T24I probably benign Het
Cdh23 T A 10: 60,270,291 (GRCm39) Y618F probably damaging Het
Chd1 T A 17: 15,978,950 (GRCm39) W1271R probably damaging Het
Dars1 T C 1: 128,296,176 (GRCm39) T386A probably benign Het
Dchs1 T A 7: 105,414,313 (GRCm39) D834V probably damaging Het
Dgkd T A 1: 87,864,103 (GRCm39) V933E possibly damaging Het
Dnah17 A G 11: 117,916,480 (GRCm39) F4203S probably damaging Het
Fancm T C 12: 65,177,156 (GRCm39) L2000P probably damaging Het
Fbxo11 A T 17: 88,316,097 (GRCm39) H444Q probably benign Het
Fbxw14 T A 9: 109,105,290 (GRCm39) T292S probably damaging Het
Fer1l6 T C 15: 58,431,055 (GRCm39) S237P probably damaging Het
Frem3 T C 8: 81,341,676 (GRCm39) I1323T probably benign Het
Grin2a A G 16: 9,471,313 (GRCm39) F652L probably benign Het
Grin2b T A 6: 135,900,456 (GRCm39) M142L possibly damaging Het
Helz A G 11: 107,509,886 (GRCm39) Q503R possibly damaging Het
Ighv5-17 A G 12: 113,822,915 (GRCm39) Y69H probably benign Het
Il17ra A G 6: 120,452,543 (GRCm39) N242S probably benign Het
Immp1l G C 2: 105,794,553 (GRCm39) G117A probably damaging Het
Itm2c T C 1: 85,822,413 (GRCm39) V10A probably benign Het
Kif1b T C 4: 149,322,883 (GRCm39) K679E possibly damaging Het
Kng1 T C 16: 22,893,395 (GRCm39) V256A possibly damaging Het
Lamc2 T G 1: 153,041,899 (GRCm39) R78S possibly damaging Het
Loxl4 A G 19: 42,587,232 (GRCm39) F621S probably damaging Het
Lpl T A 8: 69,345,399 (GRCm39) D134E probably damaging Het
Lypd3 T C 7: 24,339,919 (GRCm39) Y329H probably benign Het
Mettl13 T C 1: 162,363,455 (GRCm39) D225G probably benign Het
Myo7b A G 18: 32,133,027 (GRCm39) F441L probably damaging Het
Nnt T A 13: 119,472,864 (GRCm39) M699L possibly damaging Het
Nr1h3 A T 2: 91,022,196 (GRCm39) M144K probably damaging Het
Or2t46 A T 11: 58,471,894 (GRCm39) M75L probably benign Het
Or5al6 A G 2: 85,976,313 (GRCm39) V255A probably benign Het
Or6z6 T C 7: 6,491,844 (GRCm39) T3A probably benign Het
Pappa2 A T 1: 158,699,113 (GRCm39) Y667N probably damaging Het
Prps1l3 A G 12: 57,285,674 (GRCm39) I155V probably benign Het
Ptgs2 T A 1: 149,976,744 (GRCm39) N24K probably benign Het
Ralgds A T 2: 28,437,600 (GRCm39) M514L probably damaging Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Sacm1l T A 9: 123,398,070 (GRCm39) V254D probably damaging Het
Selenot A T 3: 58,492,705 (GRCm39) Q64L probably damaging Het
Sgsm2 G A 11: 74,741,677 (GRCm39) R1037W probably damaging Het
Slc22a12 A G 19: 6,592,754 (GRCm39) V10A probably benign Het
Spem2 G T 11: 69,707,522 (GRCm39) S481* probably null Het
Styk1 C T 6: 131,287,979 (GRCm39) G128D probably damaging Het
Tex54 A T 19: 8,718,148 (GRCm39) D6V probably damaging Het
Tmc6 A T 11: 117,667,154 (GRCm39) L148Q probably damaging Het
Tmem138 A C 19: 10,552,199 (GRCm39) probably null Het
Tnpo3 A G 6: 29,555,267 (GRCm39) V772A probably benign Het
Topaz1 T C 9: 122,626,821 (GRCm39) F1483S possibly damaging Het
Tuba4a C A 1: 75,192,699 (GRCm39) C305F probably damaging Het
Vmn2r9 A G 5: 108,996,882 (GRCm39) I129T probably benign Het
Wwc2 A T 8: 48,309,298 (GRCm39) M828K unknown Het
Zfp236 A T 18: 82,689,919 (GRCm39) S187T 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
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
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'- AAAGTGAGCTTCCCCAAGACTC -3'
(R):5'- AGCCATTGGGTTTATGAAGAGG -3'

Sequencing Primer
(F):5'- TGAGCTTCCCCAAGACTCACAATAC -3'
(R):5'- AAGTCTAAGGTTGCCTGCTCCAAG -3'
Posted On 2017-10-10