Incidental Mutation 'R2495:Ubox5'
ID250923
Institutional Source Beutler Lab
Gene Symbol Ubox5
Ensembl Gene ENSMUSG00000027300
Gene NameU box domain containing 5
Synonyms1500010O06Rik, C330018L13Rik, UIP5
MMRRC Submission 040409-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2495 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location130590002-130630038 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 130599521 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 415 (C415*)
Ref Sequence ENSEMBL: ENSMUSP00000028761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028761] [ENSMUST00000140581]
Predicted Effect probably null
Transcript: ENSMUST00000028761
AA Change: C415*
SMART Domains Protein: ENSMUSP00000028761
Gene: ENSMUSG00000027300
AA Change: C415*

DomainStartEndE-ValueType
Ubox 262 331 4.47e-15 SMART
low complexity region 371 395 N/A INTRINSIC
RING 481 525 3.14e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140581
SMART Domains Protein: ENSMUSP00000114878
Gene: ENSMUSG00000027300

DomainStartEndE-ValueType
Pfam:FAST_1 474 546 2.6e-27 PFAM
Pfam:FAST_2 553 598 2.1e-10 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,481,960 F125S unknown Het
Abhd17c C T 7: 84,110,676 W290* probably null Het
Acsl5 A T 19: 55,293,599 K536* probably null Het
Adamts14 A T 10: 61,198,970 probably null Het
Agbl3 A G 6: 34,846,764 H788R probably damaging Het
Agrp T C 8: 105,566,776 N126D possibly damaging Het
Ambn T C 5: 88,467,804 I349T probably benign Het
Ank1 T C 8: 23,132,264 W1610R probably damaging Het
Aox3 T C 1: 58,188,408 L1224P probably damaging Het
Arhgef28 A T 13: 98,029,373 probably benign Het
Bcl11b G A 12: 107,915,447 H798Y possibly damaging Het
Capn11 T A 17: 45,638,763 M426L probably damaging Het
Cep95 A G 11: 106,809,282 K290E possibly damaging Het
Cic A G 7: 25,291,776 probably benign Het
Cnbd1 A T 4: 18,860,579 M389K probably damaging Het
Cnksr1 A T 4: 134,232,162 L387Q probably benign Het
Cntrob G T 11: 69,322,923 P14T probably damaging Het
Crmp1 G A 5: 37,246,097 probably null Het
Dido1 A G 2: 180,689,388 V89A probably benign Het
Dnah7a T A 1: 53,605,881 I999F probably damaging Het
Dsp T A 13: 38,193,477 L1746Q possibly damaging Het
Dst T C 1: 34,199,373 S3897P probably damaging Het
Fbxo10 A G 4: 45,040,545 F887L probably benign Het
Gm21961 T A 15: 65,014,873 H11L unknown Het
Gm4559 A T 7: 142,273,820 C182S unknown Het
Gm5724 C A 6: 141,765,777 M69I probably benign Het
Golga3 T A 5: 110,207,596 S939T probably damaging Het
Got2 A G 8: 95,888,290 S6P possibly damaging Het
Gpatch8 A T 11: 102,478,481 H1410Q probably damaging Het
Gpx5 T A 13: 21,291,440 T39S probably benign Het
Grin2b T C 6: 135,733,182 Y1122C probably damaging Het
Gsn A C 2: 35,303,193 N538T probably damaging Het
Helz2 A G 2: 181,232,912 S1930P probably damaging Het
Krt6b A T 15: 101,678,322 F286Y probably damaging Het
Lrriq1 G A 10: 103,202,381 R854C probably damaging Het
Mipol1 A T 12: 57,460,990 probably benign Het
Mmp19 A G 10: 128,790,950 probably benign Het
Msc T G 1: 14,755,249 Y167S probably benign Het
Mycbp2 T G 14: 103,200,118 K2103Q probably damaging Het
Myh11 C A 16: 14,205,557 D1586Y probably damaging Het
Nol6 A T 4: 41,118,427 D791E probably damaging Het
Pcm1 A G 8: 41,293,579 T1272A probably benign Het
Phgdh A G 3: 98,339,789 L15P probably damaging Het
Ptprk A T 10: 28,475,078 probably benign Het
Ralgapa2 G T 2: 146,361,400 D1091E possibly damaging Het
Rbbp8nl C A 2: 180,279,102 K496N probably null Het
Rbm26 T C 14: 105,151,312 probably benign Het
Rfx6 A C 10: 51,726,675 probably benign Het
Rras G A 7: 45,018,064 G17R probably damaging Het
Shisa6 G A 11: 66,217,633 P473S probably damaging Het
Slc9a3 A G 13: 74,158,703 K316E probably damaging Het
Spata31d1a A G 13: 59,701,993 S774P possibly damaging Het
Spsb4 T C 9: 96,995,787 Y161C probably damaging Het
Taf3 G T 2: 9,952,833 N174K probably damaging Het
Tectb C G 19: 55,180,999 probably benign Het
Trnt1 T A 6: 106,773,369 V78E possibly damaging Het
Ucn2 C T 9: 108,986,409 P80S possibly damaging Het
Vmn2r10 G A 5: 108,996,095 T663I probably damaging Het
Wdfy1 A T 1: 79,707,505 F337L probably null Het
Zfp287 A T 11: 62,714,633 C483S probably damaging Het
Zyg11b A G 4: 108,244,724 probably null Het
Other mutations in Ubox5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Ubox5 APN 2 130599888 missense probably damaging 0.99
IGL01947:Ubox5 APN 2 130600659 missense possibly damaging 0.95
IGL01978:Ubox5 APN 2 130600452 missense probably benign 0.00
IGL02252:Ubox5 APN 2 130599787 missense probably damaging 1.00
IGL02994:Ubox5 APN 2 130600317 missense probably benign 0.13
IGL03150:Ubox5 APN 2 130600140 missense probably benign 0.44
PIT4403001:Ubox5 UTSW 2 130600677 missense probably damaging 0.99
R0792:Ubox5 UTSW 2 130600710 missense probably damaging 0.99
R1344:Ubox5 UTSW 2 130600290 missense probably damaging 1.00
R1418:Ubox5 UTSW 2 130600290 missense probably damaging 1.00
R1436:Ubox5 UTSW 2 130597293 unclassified probably benign
R1608:Ubox5 UTSW 2 130597456 missense probably benign 0.04
R1650:Ubox5 UTSW 2 130600425 missense probably benign 0.03
R1772:Ubox5 UTSW 2 130591874 missense probably benign 0.24
R4767:Ubox5 UTSW 2 130591894 missense probably damaging 1.00
R5107:Ubox5 UTSW 2 130599768 missense probably damaging 1.00
R8271:Ubox5 UTSW 2 130599709 missense probably benign
R8290:Ubox5 UTSW 2 130600413 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAGGTTATCTATGGGCCAAAG -3'
(R):5'- TTACCCTGCCCTCAAGGAAAAG -3'

Sequencing Primer
(F):5'- CTCAAAGGTTTAGAGCACTGGC -3'
(R):5'- CTGCCCTCAAGGAAAAGGAAGAC -3'
Posted On2014-12-04