Incidental Mutation 'IGL00567:Ugt2b37'
ID6411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2b37
Ensembl Gene ENSMUSG00000057425
Gene NameUDP glucuronosyltransferase 2 family, polypeptide B37
Synonyms0610033E06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL00567
Quality Score
Status
Chromosome5
Chromosomal Location87240493-87254804 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87254074 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 233 (W233R)
Ref Sequence ENSEMBL: ENSMUSP00000075255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075858]
Predicted Effect probably damaging
Transcript: ENSMUST00000075858
AA Change: W233R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075255
Gene: ENSMUSG00000057425
AA Change: W233R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 527 5.5e-256 PFAM
Pfam:Glyco_tran_28_C 328 449 2.5e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,013,383 N4010K probably benign Het
Atm G T 9: 53,503,116 Y891* probably null Het
Cfap70 C T 14: 20,394,680 V1083I probably benign Het
Col5a2 T A 1: 45,392,877 probably benign Het
Dsg1c T C 18: 20,274,676 S360P probably damaging Het
Fam162b C T 10: 51,590,294 G43E possibly damaging Het
Gata6 A G 18: 11,084,330 M540V possibly damaging Het
Gnl3l A T X: 150,994,246 probably null Het
Mark2 T C 19: 7,341,184 E13G possibly damaging Het
Myo16 A C 8: 10,462,154 I778L probably damaging Het
Postn T C 3: 54,384,523 V715A probably benign Het
Prl3c1 A G 13: 27,200,712 E68G possibly damaging Het
Ptch1 C A 13: 63,527,175 S741I probably benign Het
Rbm8a2 T C 1: 175,978,662 E83G possibly damaging Het
Scyl2 C T 10: 89,657,809 probably null Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Tgm6 A G 2: 130,136,495 D83G probably benign Het
Ube2l6 C T 2: 84,809,038 P115L possibly damaging Het
Ush2a A G 1: 188,964,917 T5191A probably damaging Het
Wdfy3 G T 5: 101,912,030 probably benign Het
Zan T C 5: 137,416,277 probably benign Het
Other mutations in Ugt2b37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Ugt2b37 APN 5 87242481 missense possibly damaging 0.90
IGL00787:Ugt2b37 APN 5 87242429 missense probably benign 0.00
IGL01560:Ugt2b37 APN 5 87251839 missense probably damaging 1.00
IGL01617:Ugt2b37 APN 5 87251879 missense probably damaging 1.00
IGL01982:Ugt2b37 APN 5 87242432 missense probably damaging 1.00
IGL02299:Ugt2b37 APN 5 87242315 missense probably benign 0.00
IGL02323:Ugt2b37 APN 5 87250564 splice site probably benign
IGL02326:Ugt2b37 APN 5 87241002 missense probably benign 0.25
IGL02516:Ugt2b37 APN 5 87240882 missense probably damaging 1.00
IGL03285:Ugt2b37 APN 5 87240875 missense probably damaging 1.00
R0076:Ugt2b37 UTSW 5 87254221 missense probably benign 0.31
R0141:Ugt2b37 UTSW 5 87240983 missense probably damaging 1.00
R0312:Ugt2b37 UTSW 5 87250665 missense probably damaging 1.00
R0359:Ugt2b37 UTSW 5 87250584 missense probably benign 0.10
R0523:Ugt2b37 UTSW 5 87251832 missense possibly damaging 0.91
R1938:Ugt2b37 UTSW 5 87240857 missense probably damaging 1.00
R1962:Ugt2b37 UTSW 5 87254334 missense probably damaging 1.00
R2496:Ugt2b37 UTSW 5 87254710 missense probably damaging 0.97
R3704:Ugt2b37 UTSW 5 87242987 missense possibly damaging 0.55
R4430:Ugt2b37 UTSW 5 87254092 missense probably benign 0.00
R4825:Ugt2b37 UTSW 5 87250639 missense possibly damaging 0.91
R5043:Ugt2b37 UTSW 5 87251860 nonsense probably null
R5098:Ugt2b37 UTSW 5 87242953 missense probably damaging 1.00
R5174:Ugt2b37 UTSW 5 87251880 missense probably benign 0.00
R5522:Ugt2b37 UTSW 5 87240900 missense probably benign 0.14
R5879:Ugt2b37 UTSW 5 87254406 missense probably benign
R5999:Ugt2b37 UTSW 5 87254177 missense probably benign 0.25
R6374:Ugt2b37 UTSW 5 87242420 missense probably damaging 1.00
R6454:Ugt2b37 UTSW 5 87240977 missense probably damaging 1.00
R6857:Ugt2b37 UTSW 5 87240846 missense probably damaging 0.98
R6875:Ugt2b37 UTSW 5 87242429 missense probably benign 0.00
R6916:Ugt2b37 UTSW 5 87254600 missense probably benign 0.07
R7099:Ugt2b37 UTSW 5 87240989 missense probably benign 0.00
R7239:Ugt2b37 UTSW 5 87254731 missense probably benign
R7470:Ugt2b37 UTSW 5 87254112 missense probably benign 0.24
R7810:Ugt2b37 UTSW 5 87254259 missense probably damaging 1.00
R7841:Ugt2b37 UTSW 5 87250630 missense probably benign 0.05
R7860:Ugt2b37 UTSW 5 87254330 missense probably damaging 1.00
R7861:Ugt2b37 UTSW 5 87242440 nonsense probably null
R8200:Ugt2b37 UTSW 5 87240891 nonsense probably null
R8211:Ugt2b37 UTSW 5 87242376 missense probably benign 0.07
R8282:Ugt2b37 UTSW 5 87254581 missense probably benign 0.01
R8312:Ugt2b37 UTSW 5 87242940 missense probably benign 0.15
Posted On2012-04-20