Incidental Mutation 'IGL01530:Ugt2b5'
ID 89706
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2b5
Ensembl Gene ENSMUSG00000054630
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B5
Synonyms Udpgt-3, m-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL01530
Quality Score
Status
Chromosome 5
Chromosomal Location 87272819-87288177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87285104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 278 (V278I)
Ref Sequence ENSEMBL: ENSMUSP00000068282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067790]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000067790
AA Change: V278I

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: V278I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 527 7.9e-256 PFAM
Pfam:Glyco_tran_28_C 352 449 5.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113327
AA Change: V289I

PolyPhen 2 Score 0.030 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108953
Gene: ENSMUSG00000054630
AA Change: V289I

DomainStartEndE-ValueType
Pfam:UDPGT 35 538 1.3e-259 PFAM
Pfam:Glyco_tran_28_C 341 460 4.3e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 G A 14: 54,881,443 (GRCm39) R1117W probably damaging Het
Acox2 T G 14: 8,246,363 (GRCm38) Y476S probably damaging Het
Arl6ip5 G A 6: 97,187,785 (GRCm39) D2N possibly damaging Het
Ces2h A G 8: 105,741,116 (GRCm39) H36R probably benign Het
Cfap44 C A 16: 44,269,530 (GRCm39) A1178E probably damaging Het
Clmn T A 12: 104,758,115 (GRCm39) I134F probably damaging Het
Col6a5 A G 9: 105,792,385 (GRCm39) probably benign Het
Csmd1 C T 8: 15,953,195 (GRCm39) E3429K probably damaging Het
Csmd2 A G 4: 128,308,094 (GRCm39) D1284G possibly damaging Het
Csmd3 C T 15: 47,701,833 (GRCm39) G1750E possibly damaging Het
Csmd3 T G 15: 47,533,013 (GRCm39) D2516A probably damaging Het
Depdc1a C T 3: 159,229,560 (GRCm39) H631Y probably damaging Het
Fat2 A T 11: 55,174,213 (GRCm39) S2167T probably benign Het
Flii G A 11: 60,611,008 (GRCm39) R474* probably null Het
Hmcn2 A C 2: 31,244,276 (GRCm39) D687A possibly damaging Het
Hrh4 A G 18: 13,149,004 (GRCm39) probably benign Het
Hsd3b5 G A 3: 98,526,439 (GRCm39) R336C probably damaging Het
Igkv5-39 T A 6: 69,877,459 (GRCm39) E79V probably damaging Het
Iqgap3 G A 3: 88,019,610 (GRCm39) probably null Het
Irak3 G A 10: 119,978,699 (GRCm39) S492F probably benign Het
Kif14 T A 1: 136,406,157 (GRCm39) probably benign Het
Kmt2c T C 5: 25,518,498 (GRCm39) I2394V probably benign Het
Lama1 C T 17: 68,103,785 (GRCm39) A2002V probably benign Het
Map3k19 T C 1: 127,749,841 (GRCm39) E1170G probably damaging Het
Mdn1 T C 4: 32,711,938 (GRCm39) probably benign Het
Mpo G T 11: 87,692,017 (GRCm39) M483I probably benign Het
Neu3 T C 7: 99,462,953 (GRCm39) S257G probably benign Het
Nhsl3 G A 4: 129,116,589 (GRCm39) probably null Het
Niban3 A T 8: 72,056,561 (GRCm39) probably benign Het
Nup214 A G 2: 31,923,733 (GRCm39) T1421A probably benign Het
Pbx1 T C 1: 168,018,873 (GRCm39) N324S probably benign Het
Pcbp2 T C 15: 102,392,601 (GRCm39) S5P probably benign Het
Pds5b A G 5: 150,715,640 (GRCm39) I511V probably benign Het
Pdzph1 C T 17: 59,229,710 (GRCm39) D983N probably damaging Het
Phldb2 A C 16: 45,623,092 (GRCm39) D651E probably damaging Het
Pkhd1 A G 1: 20,629,643 (GRCm39) probably null Het
Plxnb1 A G 9: 108,939,473 (GRCm39) D1406G probably benign Het
Rhebl1 T C 15: 98,777,367 (GRCm39) D65G probably damaging Het
Smpdl3a A G 10: 57,683,989 (GRCm39) H249R probably damaging Het
Sorbs1 T C 19: 40,365,091 (GRCm39) T231A probably benign Het
Tmem232 G A 17: 65,563,543 (GRCm39) Q617* probably null Het
Trim62 A G 4: 128,778,252 (GRCm39) D97G probably benign Het
Tsc2 T C 17: 24,841,636 (GRCm39) T328A possibly damaging Het
Usp4 T C 9: 108,240,099 (GRCm39) probably null Het
Vdac3-ps1 C T 13: 18,206,091 (GRCm39) noncoding transcript Het
Wwc2 T A 8: 48,316,974 (GRCm39) R706S unknown Het
Xpot A C 10: 121,447,433 (GRCm39) I114S probably damaging Het
Zfp777 T A 6: 48,020,918 (GRCm39) S279C probably damaging Het
Other mutations in Ugt2b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Ugt2b5 APN 5 87,273,078 (GRCm39) missense probably benign 0.02
IGL00742:Ugt2b5 APN 5 87,275,673 (GRCm39) missense probably damaging 1.00
IGL01527:Ugt2b5 APN 5 87,284,068 (GRCm39) missense possibly damaging 0.71
IGL01637:Ugt2b5 APN 5 87,287,759 (GRCm39) missense probably benign 0.04
IGL02371:Ugt2b5 APN 5 87,275,535 (GRCm39) critical splice donor site probably null
IGL02993:Ugt2b5 APN 5 87,285,091 (GRCm39) missense probably damaging 1.00
IGL03114:Ugt2b5 APN 5 87,276,209 (GRCm39) missense probably damaging 1.00
R0372:Ugt2b5 UTSW 5 87,288,117 (GRCm39) missense probably benign 0.05
R0568:Ugt2b5 UTSW 5 87,285,224 (GRCm39) critical splice acceptor site probably benign
R0650:Ugt2b5 UTSW 5 87,287,627 (GRCm39) missense probably benign 0.00
R1660:Ugt2b5 UTSW 5 87,287,477 (GRCm39) missense probably benign 0.00
R1907:Ugt2b5 UTSW 5 87,287,489 (GRCm39) missense probably benign 0.19
R1955:Ugt2b5 UTSW 5 87,275,631 (GRCm39) missense probably benign 0.18
R2389:Ugt2b5 UTSW 5 87,275,541 (GRCm39) missense probably damaging 0.98
R2435:Ugt2b5 UTSW 5 87,287,465 (GRCm39) missense probably damaging 0.99
R2919:Ugt2b5 UTSW 5 87,273,266 (GRCm39) missense possibly damaging 0.83
R2920:Ugt2b5 UTSW 5 87,273,266 (GRCm39) missense possibly damaging 0.83
R4342:Ugt2b5 UTSW 5 87,287,582 (GRCm39) missense probably damaging 1.00
R4343:Ugt2b5 UTSW 5 87,287,582 (GRCm39) missense probably damaging 1.00
R4344:Ugt2b5 UTSW 5 87,287,582 (GRCm39) missense probably damaging 1.00
R4355:Ugt2b5 UTSW 5 87,287,622 (GRCm39) nonsense probably null
R4380:Ugt2b5 UTSW 5 87,275,753 (GRCm39) missense probably damaging 1.00
R4789:Ugt2b5 UTSW 5 87,287,550 (GRCm39) missense probably benign 0.14
R4993:Ugt2b5 UTSW 5 87,287,532 (GRCm39) missense probably benign 0.00
R5731:Ugt2b5 UTSW 5 87,288,111 (GRCm39) nonsense probably null
R6035:Ugt2b5 UTSW 5 87,287,541 (GRCm39) missense probably benign 0.09
R6035:Ugt2b5 UTSW 5 87,287,541 (GRCm39) missense probably benign 0.09
R6491:Ugt2b5 UTSW 5 87,273,328 (GRCm39) nonsense probably null
R7015:Ugt2b5 UTSW 5 87,287,655 (GRCm39) missense probably damaging 1.00
R7203:Ugt2b5 UTSW 5 87,276,258 (GRCm39) missense possibly damaging 0.72
R7212:Ugt2b5 UTSW 5 87,273,131 (GRCm39) missense probably benign 0.06
R7750:Ugt2b5 UTSW 5 87,288,108 (GRCm39) missense probably benign 0.11
R8384:Ugt2b5 UTSW 5 87,287,924 (GRCm39) missense probably benign
R8465:Ugt2b5 UTSW 5 87,287,518 (GRCm39) missense possibly damaging 0.79
R9336:Ugt2b5 UTSW 5 87,285,130 (GRCm39) missense probably benign 0.00
R9678:Ugt2b5 UTSW 5 87,273,186 (GRCm39) missense probably damaging 1.00
R9682:Ugt2b5 UTSW 5 87,287,522 (GRCm39) missense probably damaging 0.97
R9727:Ugt2b5 UTSW 5 87,288,165 (GRCm39) start codon destroyed probably damaging 0.97
X0004:Ugt2b5 UTSW 5 87,276,230 (GRCm39) nonsense probably null
X0021:Ugt2b5 UTSW 5 87,284,070 (GRCm39) missense possibly damaging 0.95
Posted On 2013-12-03