Incidental Mutation 'IGL03335:Ugt2b34'
ID416995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2b34
Ensembl Gene ENSMUSG00000029260
Gene NameUDP glucuronosyltransferase 2 family, polypeptide B34
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL03335
Quality Score
Status
Chromosome5
Chromosomal Location86889767-86906937 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86906640 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 94 (E94G)
Ref Sequence ENSEMBL: ENSMUSP00000031181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031181] [ENSMUST00000113333]
Predicted Effect probably benign
Transcript: ENSMUST00000031181
AA Change: E94G

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031181
Gene: ENSMUSG00000029260
AA Change: E94G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 529 2.4e-253 PFAM
Pfam:Glyco_tran_28_C 331 456 3.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113333
AA Change: E94G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108959
Gene: ENSMUSG00000029260
AA Change: E94G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 440 5.7e-190 PFAM
Pfam:Glyco_tran_28_C 344 440 1.1e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,935,258 V713A probably benign Het
Actr8 T C 14: 29,978,557 V31A probably benign Het
Alcam A C 16: 52,291,003 Y244* probably null Het
Ankrd24 A G 10: 81,647,133 S972G probably benign Het
Aox1 T A 1: 58,076,160 V768E probably damaging Het
Btbd11 A T 10: 85,658,358 probably benign Het
C130060K24Rik T C 6: 65,453,117 probably null Het
Carmil2 A G 8: 105,697,029 I1212V probably benign Het
Catsper1 C T 19: 5,336,311 R191C probably damaging Het
Cenpe T A 3: 135,243,625 V57D probably benign Het
Cpsf3 T C 12: 21,306,887 probably null Het
Cubn A G 2: 13,360,329 S1633P probably damaging Het
Dsg1c G A 18: 20,283,697 R885Q probably benign Het
Egfl6 C A X: 166,538,693 G272W probably damaging Het
Ermard T C 17: 15,059,406 L486P probably damaging Het
F13b A T 1: 139,522,386 L595F probably damaging Het
Foxm1 A G 6: 128,372,568 N350S possibly damaging Het
Fras1 T C 5: 96,733,944 probably benign Het
Gpr152 C A 19: 4,143,771 T437N possibly damaging Het
Icmt T A 4: 152,300,697 Y205* probably null Het
Ints8 A T 4: 11,216,460 F844I probably damaging Het
Mep1a T A 17: 43,477,173 D664V possibly damaging Het
Muc4 T A 16: 32,753,021 N966K probably benign Het
Myo7b T A 18: 31,985,020 Q851L possibly damaging Het
Pdzd2 T C 15: 12,373,764 H2095R probably benign Het
Phldb1 A G 9: 44,728,069 L4P possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pnpla8 T A 12: 44,283,164 N166K probably benign Het
Rapgef2 A G 3: 79,099,185 M137T probably damaging Het
Rbm15b G A 9: 106,884,339 H877Y probably damaging Het
Rbm45 T C 2: 76,376,433 L263P probably damaging Het
Rprd1b T C 2: 158,074,964 V288A probably damaging Het
Tmtc3 C A 10: 100,466,254 V278L probably damaging Het
Tomm70a A G 16: 57,149,926 T556A probably damaging Het
Trpc7 T C 13: 56,887,691 E143G probably damaging Het
Trpm3 G T 19: 22,926,071 probably null Het
Vmn1r174 T C 7: 23,754,512 V201A probably benign Het
Zfp352 T C 4: 90,224,346 F241S probably damaging Het
Other mutations in Ugt2b34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Ugt2b34 APN 5 86892959 missense probably damaging 1.00
IGL00498:Ugt2b34 APN 5 86901225 missense probably damaging 1.00
IGL00710:Ugt2b34 APN 5 86906589 missense probably damaging 1.00
IGL01089:Ugt2b34 APN 5 86906326 missense probably benign 0.02
IGL01090:Ugt2b34 APN 5 86893820 missense probably damaging 1.00
IGL01152:Ugt2b34 APN 5 86901203 missense probably damaging 0.99
IGL01343:Ugt2b34 APN 5 86904388 missense possibly damaging 0.93
IGL01410:Ugt2b34 APN 5 86892830 missense possibly damaging 0.77
IGL01419:Ugt2b34 APN 5 86891405 missense probably damaging 1.00
IGL01986:Ugt2b34 APN 5 86901252 missense probably benign 0.01
IGL02702:Ugt2b34 APN 5 86892891 missense probably benign 0.21
IGL02725:Ugt2b34 APN 5 86906425 missense probably benign
IGL02810:Ugt2b34 APN 5 86906524 missense probably benign 0.01
IGL03199:Ugt2b34 APN 5 86906880 missense unknown
IGL03355:Ugt2b34 APN 5 86906685 missense probably benign 0.01
R0624:Ugt2b34 UTSW 5 86893732 critical splice donor site probably null
R0707:Ugt2b34 UTSW 5 86892899 missense possibly damaging 0.60
R0825:Ugt2b34 UTSW 5 86906701 missense possibly damaging 0.64
R1029:Ugt2b34 UTSW 5 86904387 nonsense probably null
R1857:Ugt2b34 UTSW 5 86904382 missense possibly damaging 0.90
R1982:Ugt2b34 UTSW 5 86906313 missense probably damaging 1.00
R2032:Ugt2b34 UTSW 5 86891272 missense probably damaging 1.00
R2133:Ugt2b34 UTSW 5 86906557 missense probably benign 0.39
R4439:Ugt2b34 UTSW 5 86892867 missense probably damaging 1.00
R4783:Ugt2b34 UTSW 5 86891473 missense probably damaging 1.00
R5046:Ugt2b34 UTSW 5 86904387 missense probably benign 0.00
R5304:Ugt2b34 UTSW 5 86892865 missense probably damaging 1.00
R5543:Ugt2b34 UTSW 5 86906701 missense probably damaging 0.99
R6235:Ugt2b34 UTSW 5 86906364 missense probably benign 0.09
R6841:Ugt2b34 UTSW 5 86892816 missense probably benign 0.01
R7459:Ugt2b34 UTSW 5 86901275 missense possibly damaging 0.56
R7624:Ugt2b34 UTSW 5 86891282 missense possibly damaging 0.95
R8316:Ugt2b34 UTSW 5 86891390 missense probably damaging 1.00
V8831:Ugt2b34 UTSW 5 86906674 missense probably benign 0.39
Z1177:Ugt2b34 UTSW 5 86906719 missense probably damaging 0.96
Posted On2016-08-02