Incidental Mutation 'IGL01867:Ubap1'
ID 178561
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubap1
Ensembl Gene ENSMUSG00000028437
Gene Name ubiquitin-associated protein 1
Synonyms NAG20, 2700092A01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01867
Quality Score
Status
Chromosome 4
Chromosomal Location 41348996-41389766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 41379236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 150 (T150I)
Ref Sequence ENSEMBL: ENSMUSP00000103695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072866] [ENSMUST00000108060]
AlphaFold Q8BH48
Predicted Effect probably benign
Transcript: ENSMUST00000072866
AA Change: T150I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000072643
Gene: ENSMUSG00000028437
AA Change: T150I

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: T150I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000103695
Gene: ENSMUSG00000028437
AA Change: T150I

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,635,364 (GRCm39) E213G probably benign Het
Akap6 T C 12: 52,934,791 (GRCm39) L761P probably damaging Het
Bbs7 A C 3: 36,627,696 (GRCm39) L697R probably benign Het
Cd74 G A 18: 60,941,352 (GRCm39) R99H probably benign Het
Cpne6 A G 14: 55,751,137 (GRCm39) N182S probably benign Het
Cyp4f17 A G 17: 32,747,057 (GRCm39) H429R probably benign Het
Dact2 A T 17: 14,415,932 (GRCm39) M756K probably damaging Het
Ets1 A G 9: 32,645,455 (GRCm39) D234G probably damaging Het
Fat3 A C 9: 16,289,197 (GRCm39) S109A probably benign Het
Fras1 G T 5: 96,735,990 (GRCm39) M528I probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gtf3c1 A G 7: 125,261,548 (GRCm39) F1189L probably benign Het
Ift81 A T 5: 122,740,739 (GRCm39) probably benign Het
Insyn2b A G 11: 34,353,065 (GRCm39) E369G probably benign Het
Lag3 A G 6: 124,887,869 (GRCm39) S22P probably benign Het
Mos G T 4: 3,870,845 (GRCm39) Q324K probably benign Het
Mtx2 T A 2: 74,706,733 (GRCm39) V236E probably damaging Het
Naip6 T C 13: 100,436,820 (GRCm39) T568A probably benign Het
Or5k8 A G 16: 58,644,337 (GRCm39) F245S probably damaging Het
Or6c35 T A 10: 129,169,232 (GRCm39) L161M probably damaging Het
Or6c68 T C 10: 129,157,585 (GRCm39) I31T probably benign Het
Or6c88 G A 10: 129,406,696 (GRCm39) M57I possibly damaging Het
Or8b53 A C 9: 38,667,194 (GRCm39) D70A probably damaging Het
Pcid2 A G 8: 13,128,243 (GRCm39) V386A probably benign Het
Pde8b T C 13: 95,237,446 (GRCm39) D116G probably damaging Het
Plxnc1 A G 10: 94,634,008 (GRCm39) V1365A possibly damaging Het
Prex2 G T 1: 11,168,727 (GRCm39) C241F probably benign Het
Prr23a2 A G 9: 98,739,113 (GRCm39) E157G probably benign Het
Ptpn4 A T 1: 119,603,329 (GRCm39) H836Q probably benign Het
Ptprd C T 4: 76,161,884 (GRCm39) R117H probably damaging Het
Rab11fip4 T C 11: 79,574,216 (GRCm39) S102P probably benign Het
Slc44a1 G T 4: 53,536,405 (GRCm39) V194F probably damaging Het
Synm T A 7: 67,383,222 (GRCm39) H1480L probably benign Het
Tmem63a A G 1: 180,783,570 (GRCm39) Y175C possibly damaging Het
Trmt61a C T 12: 111,645,150 (GRCm39) R29C probably benign Het
Uimc1 T C 13: 55,223,214 (GRCm39) M353V probably benign Het
Usp34 T C 11: 23,334,411 (GRCm39) M1135T possibly damaging Het
Vmn1r25 A C 6: 57,956,196 (GRCm39) L31R probably damaging Het
Wtap T C 17: 13,188,342 (GRCm39) E186G probably benign Het
Wwc2 T G 8: 48,336,615 (GRCm39) N216H probably benign Het
Zhx1 A T 15: 57,917,841 (GRCm39) M135K probably 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
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
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
Posted On 2014-05-07