Incidental Mutation 'IGL02371:Ugt2b5'
ID290946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2b5
Ensembl Gene ENSMUSG00000054630
Gene NameUDP glucuronosyltransferase 2 family, polypeptide B5
SynonymsUdpgt-3, m-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL02371
Quality Score
Status
Chromosome5
Chromosomal Location87124960-87140318 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 87127676 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000068282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067790]
Predicted Effect probably null
Transcript: ENSMUST00000067790
SMART Domains Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 T C 10: 18,646,539 T580A probably benign Het
Casp2 T A 6: 42,267,968 D100E probably benign Het
Cd1d1 C A 3: 86,998,881 R29L probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cyct A G 2: 76,354,090 *106R probably null Het
Enam A G 5: 88,502,809 I726V probably benign Het
Epha3 T G 16: 63,585,020 probably null Het
Erbb4 T C 1: 68,290,294 D632G probably benign Het
Fam217a T C 13: 34,911,401 N125S possibly damaging Het
Fbxo32 A T 15: 58,181,464 probably benign Het
Foxa1 T C 12: 57,542,700 T245A probably damaging Het
Gars T C 6: 55,065,467 V395A probably benign Het
Gimap5 A T 6: 48,753,003 N169I probably damaging Het
Itgav A G 2: 83,770,053 M266V probably damaging Het
Klhl14 G A 18: 21,652,181 S63F probably damaging Het
Lpp G A 16: 24,761,611 A26T probably damaging Het
Lrrc17 T C 5: 21,560,996 Y159H probably damaging Het
Lzts1 A T 8: 69,138,798 S233T probably damaging Het
Mdn1 T C 4: 32,676,860 probably benign Het
Nrf1 A T 6: 30,118,991 I382F possibly damaging Het
Olfr1287 A G 2: 111,450,009 R290G probably damaging Het
Olfr24 G T 9: 18,754,704 S310R probably benign Het
Olfr266 A T 3: 106,822,046 F171Y probably damaging Het
Pde9a T A 17: 31,420,285 V63D possibly damaging Het
Plcg1 T A 2: 160,753,507 N484K probably damaging Het
Plekhg4 T A 8: 105,379,059 probably null Het
Pot1b A G 17: 55,695,092 Y161H possibly damaging Het
Ptchd4 G A 17: 42,316,974 G109S possibly damaging Het
Rad51ap1 T C 6: 126,927,564 N119S probably benign Het
Rbm22 C T 18: 60,571,956 probably benign Het
Stk36 T A 1: 74,622,255 S480R probably benign Het
Other mutations in Ugt2b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Ugt2b5 APN 5 87125219 missense probably benign 0.02
IGL00742:Ugt2b5 APN 5 87127814 missense probably damaging 1.00
IGL01527:Ugt2b5 APN 5 87136209 missense possibly damaging 0.71
IGL01530:Ugt2b5 APN 5 87137245 missense probably benign 0.08
IGL01637:Ugt2b5 APN 5 87139900 missense probably benign 0.04
IGL02993:Ugt2b5 APN 5 87137232 missense probably damaging 1.00
IGL03114:Ugt2b5 APN 5 87128350 missense probably damaging 1.00
R0372:Ugt2b5 UTSW 5 87140258 missense probably benign 0.05
R0568:Ugt2b5 UTSW 5 87137365 critical splice acceptor site probably benign
R0650:Ugt2b5 UTSW 5 87139768 missense probably benign 0.00
R1660:Ugt2b5 UTSW 5 87139618 missense probably benign 0.00
R1907:Ugt2b5 UTSW 5 87139630 missense probably benign 0.19
R1955:Ugt2b5 UTSW 5 87127772 missense probably benign 0.18
R2389:Ugt2b5 UTSW 5 87127682 missense probably damaging 0.98
R2435:Ugt2b5 UTSW 5 87139606 missense probably damaging 0.99
R2919:Ugt2b5 UTSW 5 87125407 missense possibly damaging 0.83
R2920:Ugt2b5 UTSW 5 87125407 missense possibly damaging 0.83
R4342:Ugt2b5 UTSW 5 87139723 missense probably damaging 1.00
R4343:Ugt2b5 UTSW 5 87139723 missense probably damaging 1.00
R4344:Ugt2b5 UTSW 5 87139723 missense probably damaging 1.00
R4355:Ugt2b5 UTSW 5 87139763 nonsense probably null
R4380:Ugt2b5 UTSW 5 87127894 missense probably damaging 1.00
R4789:Ugt2b5 UTSW 5 87139691 missense probably benign 0.14
R4993:Ugt2b5 UTSW 5 87139673 missense probably benign 0.00
R5731:Ugt2b5 UTSW 5 87140252 nonsense probably null
R6035:Ugt2b5 UTSW 5 87139682 missense probably benign 0.09
R6035:Ugt2b5 UTSW 5 87139682 missense probably benign 0.09
R6491:Ugt2b5 UTSW 5 87125469 nonsense probably null
R7015:Ugt2b5 UTSW 5 87139796 missense probably damaging 1.00
R7203:Ugt2b5 UTSW 5 87128399 missense possibly damaging 0.72
R7212:Ugt2b5 UTSW 5 87125272 missense probably benign 0.06
R7750:Ugt2b5 UTSW 5 87140249 missense probably benign 0.11
X0004:Ugt2b5 UTSW 5 87128371 nonsense probably null
X0021:Ugt2b5 UTSW 5 87136211 missense possibly damaging 0.95
Posted On2015-04-16