Incidental Mutation 'IGL01978:Ubox5'
ID181787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubox5
Ensembl Gene ENSMUSG00000027300
Gene NameU box domain containing 5
Synonyms1500010O06Rik, C330018L13Rik, UIP5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01978
Quality Score
Status
Chromosome2
Chromosomal Location130590002-130630038 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 130600452 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 105 (V105E)
Ref Sequence ENSEMBL: ENSMUSP00000028761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028761] [ENSMUST00000140581]
Predicted Effect probably benign
Transcript: ENSMUST00000028761
AA Change: V105E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028761
Gene: ENSMUSG00000027300
AA Change: V105E

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
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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,219,382 N1805I probably damaging Het
9830107B12Rik T A 17: 48,145,993 T6S probably damaging Het
Acot5 T C 12: 84,075,398 V252A possibly damaging Het
Bmper A T 9: 23,381,441 N349Y probably damaging Het
Brap A G 5: 121,678,847 probably benign Het
Col9a2 G A 4: 121,044,666 G139E unknown Het
Cyp2j8 A C 4: 96,504,009 probably null Het
Dcbld2 A G 16: 58,464,319 D612G probably benign Het
Dsc3 C T 18: 19,974,196 R456Q possibly damaging Het
Fat2 T C 11: 55,270,146 T3253A probably benign Het
Hoxc12 T A 15: 102,936,864 H4Q probably damaging Het
Il6st A G 13: 112,497,357 E445G possibly damaging Het
Ipo8 T C 6: 148,777,289 E937G probably benign Het
Kif5a A C 10: 127,245,739 D185E probably benign Het
Klhl38 T C 15: 58,315,089 D495G probably damaging Het
Klra5 A G 6: 129,911,430 V11A probably benign Het
Lrch1 G A 14: 74,786,342 T581M probably damaging Het
Mecom A G 3: 29,963,166 I450T probably damaging Het
Mrgprb2 C A 7: 48,552,564 V138L probably damaging Het
Muc15 G A 2: 110,731,596 A126T probably benign Het
Mybpc1 A T 10: 88,531,770 I522K probably damaging Het
Nectin1 G A 9: 43,792,147 R234H probably damaging Het
Olfr1450 T C 19: 12,954,042 F151S probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Pdia6 T A 12: 17,274,422 H91Q possibly damaging Het
Pfkfb4 A T 9: 109,028,942 H445L probably damaging Het
Pkd1l1 T C 11: 8,961,336 T314A unknown Het
Rb1cc1 A G 1: 6,238,368 D159G probably damaging Het
Rhoh T A 5: 65,892,688 S100R probably benign Het
Rsbn1 T A 3: 103,961,500 D618E probably damaging Het
Slc25a47 T C 12: 108,851,190 V4A probably damaging Het
Svs3b T A 2: 164,256,621 M1L probably benign Het
Thsd7a T C 6: 12,331,006 N1379S probably benign Het
Tmed3 T C 9: 89,704,753 D58G probably benign Het
Trh G A 6: 92,242,615 A240V probably benign Het
Vmn2r67 A G 7: 85,151,441 probably null Het
Vps13c A G 9: 67,930,643 H1825R probably benign Het
Wasf1 C A 10: 40,936,201 P329T unknown Het
Wee2 T C 6: 40,455,153 F219L probably damaging Het
Zp3r T C 1: 130,598,941 D175G probably damaging 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
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
R2495:Ubox5 UTSW 2 130599521 nonsense probably null
R4767:Ubox5 UTSW 2 130591894 missense probably damaging 1.00
R5107:Ubox5 UTSW 2 130599768 missense probably damaging 1.00
Posted On2014-05-07