Incidental Mutation 'IGL01418:Ubap1'
ID278479
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubap1
Ensembl Gene ENSMUSG00000028437
Gene Nameubiquitin-associated protein 1
SynonymsNAG20, 2700092A01Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01418
Quality Score
Status
Chromosome4
Chromosomal Location41348996-41390525 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 41387333 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 414 (R414S)
Ref Sequence ENSEMBL: ENSMUSP00000072643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030148] [ENSMUST00000072866] [ENSMUST00000108055] [ENSMUST00000108060]
Predicted Effect probably benign
Transcript: ENSMUST00000030148
SMART Domains Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438

DomainStartEndE-ValueType
KISc 216 413 2.51e-29 SMART
low complexity region 481 499 N/A INTRINSIC
low complexity region 563 574 N/A INTRINSIC
low complexity region 626 644 N/A INTRINSIC
low complexity region 678 695 N/A INTRINSIC
low complexity region 1119 1130 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072866
AA Change: R414S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000072643
Gene: ENSMUSG00000028437
AA Change: R414S

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: ENSMUST00000108055
SMART Domains Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438

DomainStartEndE-ValueType
Blast:KISc 82 205 1e-47 BLAST
KISc 216 547 3.09e-134 SMART
low complexity region 615 633 N/A INTRINSIC
low complexity region 697 708 N/A INTRINSIC
low complexity region 760 778 N/A INTRINSIC
low complexity region 812 829 N/A INTRINSIC
low complexity region 1253 1264 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108060
SMART Domains Protein: ENSMUSP00000103695
Gene: ENSMUSG00000028437

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 unknown
Transcript: ENSMUST00000132235
AA Change: R94S
SMART Domains Protein: ENSMUSP00000123491
Gene: ENSMUSG00000028437
AA Change: R94S

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,525,206 H190L probably benign Het
Apoo-ps T A 13: 107,414,532 noncoding transcript Het
Asic1 T A 15: 99,672,117 N106K probably damaging Het
Ceacam5 G A 7: 17,745,599 A214T probably damaging Het
Cfap221 T A 1: 119,985,071 H91L possibly damaging Het
Cnga4 A T 7: 105,404,962 M46L probably benign Het
Ctcfl T C 2: 173,118,331 E153G probably benign Het
Cubn C T 2: 13,284,041 V3374I probably benign Het
Cyb561a3 T A 19: 10,585,246 H83Q probably damaging Het
Dnah11 C T 12: 117,987,482 W1126* probably null Het
E130311K13Rik A C 3: 63,920,262 L141R possibly damaging Het
Ercc5 A G 1: 44,167,280 K451R probably benign Het
Fbxo34 T A 14: 47,530,784 C585S possibly damaging Het
Gm13088 A T 4: 143,655,317 F270I probably benign Het
Hoxc9 T A 15: 102,984,000 M215K probably damaging Het
Ifi214 T A 1: 173,529,429 N36I probably damaging Het
Il17ra A G 6: 120,475,581 N242D probably benign Het
Itpr1 T A 6: 108,339,624 probably null Het
Lactb T C 9: 66,967,763 D349G possibly damaging Het
Lrp2 C T 2: 69,525,286 V405I probably benign Het
Map1b A T 13: 99,431,830 I1461K unknown Het
Mdh2 T A 5: 135,786,025 I116N probably damaging Het
Nek5 A C 8: 22,095,269 I364S probably damaging Het
Nr2c1 A T 10: 94,190,690 M476L probably damaging Het
Olfr1152 T C 2: 87,868,465 V158A probably benign Het
Olfr1290 T C 2: 111,489,639 E173G probably benign Het
Olfr412 T C 11: 74,364,984 V105A possibly damaging Het
Olfr418 T A 1: 173,270,708 C178S probably damaging Het
Pcdhb8 A G 18: 37,355,976 N236D probably damaging Het
Phf10 C A 17: 14,945,134 V487L probably benign Het
Ptpn3 G A 4: 57,270,156 T2I probably damaging Het
Rbl1 T C 2: 157,152,892 probably null Het
Slc24a3 A G 2: 145,640,249 D609G probably damaging Het
Slc25a40 A C 5: 8,453,298 *338Y probably null Het
Slc5a8 G T 10: 88,905,033 C270F probably damaging Het
Slfn8 T C 11: 83,004,636 D448G probably damaging Het
Tmem87a T C 2: 120,385,870 T180A probably benign Het
Trim30c A G 7: 104,382,334 S425P possibly damaging Het
Vipas39 G A 12: 87,249,397 T274I probably benign Het
Zfp507 T A 7: 35,793,812 probably null Het
Other mutations in Ubap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Ubap1 APN 4 41379562 missense probably benign
IGL01413:Ubap1 APN 4 41387333 missense probably benign 0.04
IGL01867:Ubap1 APN 4 41379236 missense probably benign 0.00
IGL02535:Ubap1 APN 4 41379667 nonsense probably null
R0090:Ubap1 UTSW 4 41379826 missense probably damaging 0.98
R0980:Ubap1 UTSW 4 41379832 missense probably damaging 1.00
R1941:Ubap1 UTSW 4 41378968 missense probably damaging 0.96
R2049:Ubap1 UTSW 4 41379257 missense probably damaging 1.00
R2142:Ubap1 UTSW 4 41379257 missense probably damaging 1.00
R2310:Ubap1 UTSW 4 41379341 missense possibly damaging 0.86
R3508:Ubap1 UTSW 4 41379163 missense probably damaging 1.00
R4118:Ubap1 UTSW 4 41371767 missense probably damaging 1.00
R4375:Ubap1 UTSW 4 41371850 critical splice donor site probably null
R5053:Ubap1 UTSW 4 41387315 nonsense probably null
R5121:Ubap1 UTSW 4 41379688 missense probably benign
R6137:Ubap1 UTSW 4 41379262 missense possibly damaging 0.60
R6820:Ubap1 UTSW 4 41379854 missense probably benign 0.00
R7393:Ubap1 UTSW 4 41379764 nonsense probably null
Posted On2015-04-16