Incidental Mutation 'IGL02702:Ugt2b34'
ID 304166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2b34
Ensembl Gene ENSMUSG00000029260
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B34
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # IGL02702
Quality Score
Status
Chromosome 5
Chromosomal Location 87037626-87054796 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87040750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 391 (I391V)
Ref Sequence ENSEMBL: ENSMUSP00000031181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031181] [ENSMUST00000113333]
AlphaFold Q8K154
Predicted Effect probably benign
Transcript: ENSMUST00000031181
AA Change: I391V

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031181
Gene: ENSMUSG00000029260
AA Change: I391V

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: I391V

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108959
Gene: ENSMUSG00000029260
AA Change: I391V

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 C T 6: 88,815,120 (GRCm39) V337I probably benign Het
Adam11 G A 11: 102,667,864 (GRCm39) V750I probably benign Het
Alms1 T C 6: 85,576,831 (GRCm39) V129A probably benign Het
Cacna1d T A 14: 29,845,490 (GRCm39) K560* probably null Het
Cntn1 A G 15: 92,189,482 (GRCm39) probably benign Het
Cpne2 T C 8: 95,296,651 (GRCm39) V530A probably benign Het
Fbxo21 T C 5: 118,138,575 (GRCm39) L507P probably damaging Het
Fndc4 T C 5: 31,451,079 (GRCm39) K204R probably damaging Het
Gnrhr G T 5: 86,330,128 (GRCm39) N297K possibly damaging Het
Grin2b A G 6: 135,716,130 (GRCm39) F729S probably damaging Het
Hdac3 C A 18: 38,074,147 (GRCm39) R359L probably benign Het
Met T C 6: 17,534,142 (GRCm39) S662P possibly damaging Het
Mphosph9 T A 5: 124,398,052 (GRCm39) E1081D probably damaging Het
Mycbp2 T G 14: 103,457,560 (GRCm39) T1546P probably benign Het
Nlrp9a T A 7: 26,264,381 (GRCm39) M767K possibly damaging Het
Olfm5 A G 7: 103,803,564 (GRCm39) Y300H probably damaging Het
Or8b47 T A 9: 38,435,856 (GRCm39) V276D probably damaging Het
Pcf11 A T 7: 92,310,826 (GRCm39) N178K possibly damaging Het
Polr3a T C 14: 24,520,945 (GRCm39) I571M probably benign Het
Ppef2 T A 5: 92,379,678 (GRCm39) R557W probably benign Het
Prelid3a T A 18: 67,606,864 (GRCm39) D85E probably damaging Het
Rb1cc1 A G 1: 6,310,247 (GRCm39) E215G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Recql4 C T 15: 76,591,485 (GRCm39) G501R probably damaging Het
Sema3e T C 5: 14,283,740 (GRCm39) probably benign Het
Shisa6 A C 11: 66,110,788 (GRCm39) L318V probably damaging Het
Slu7 T C 11: 43,329,719 (GRCm39) probably benign Het
Spink12 T C 18: 44,237,836 (GRCm39) V38A probably benign Het
Syne2 A G 12: 76,144,698 (GRCm39) D1549G probably damaging Het
Tet1 A G 10: 62,715,531 (GRCm39) V88A possibly damaging Het
Tmem200a C T 10: 25,869,501 (GRCm39) G256D probably damaging Het
Ttn G T 2: 76,714,835 (GRCm39) probably benign Het
Zfp292 A T 4: 34,809,415 (GRCm39) L1215I probably benign Het
Zfp410 C A 12: 84,372,550 (GRCm39) N125K probably damaging Het
Other mutations in Ugt2b34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Ugt2b34 APN 5 87,040,818 (GRCm39) missense probably damaging 1.00
IGL00498:Ugt2b34 APN 5 87,049,084 (GRCm39) missense probably damaging 1.00
IGL00710:Ugt2b34 APN 5 87,054,448 (GRCm39) missense probably damaging 1.00
IGL01089:Ugt2b34 APN 5 87,054,185 (GRCm39) missense probably benign 0.02
IGL01090:Ugt2b34 APN 5 87,041,679 (GRCm39) missense probably damaging 1.00
IGL01152:Ugt2b34 APN 5 87,049,062 (GRCm39) missense probably damaging 0.99
IGL01343:Ugt2b34 APN 5 87,052,247 (GRCm39) missense possibly damaging 0.93
IGL01410:Ugt2b34 APN 5 87,040,689 (GRCm39) missense possibly damaging 0.77
IGL01419:Ugt2b34 APN 5 87,039,264 (GRCm39) missense probably damaging 1.00
IGL01986:Ugt2b34 APN 5 87,049,111 (GRCm39) missense probably benign 0.01
IGL02725:Ugt2b34 APN 5 87,054,284 (GRCm39) missense probably benign
IGL02810:Ugt2b34 APN 5 87,054,383 (GRCm39) missense probably benign 0.01
IGL03199:Ugt2b34 APN 5 87,054,739 (GRCm39) missense unknown
IGL03335:Ugt2b34 APN 5 87,054,499 (GRCm39) missense probably benign 0.29
IGL03355:Ugt2b34 APN 5 87,054,544 (GRCm39) missense probably benign 0.01
R0624:Ugt2b34 UTSW 5 87,041,591 (GRCm39) critical splice donor site probably null
R0707:Ugt2b34 UTSW 5 87,040,758 (GRCm39) missense possibly damaging 0.60
R0825:Ugt2b34 UTSW 5 87,054,560 (GRCm39) missense possibly damaging 0.64
R1029:Ugt2b34 UTSW 5 87,052,246 (GRCm39) nonsense probably null
R1857:Ugt2b34 UTSW 5 87,052,241 (GRCm39) missense possibly damaging 0.90
R1982:Ugt2b34 UTSW 5 87,054,172 (GRCm39) missense probably damaging 1.00
R2032:Ugt2b34 UTSW 5 87,039,131 (GRCm39) missense probably damaging 1.00
R2133:Ugt2b34 UTSW 5 87,054,416 (GRCm39) missense probably benign 0.39
R4439:Ugt2b34 UTSW 5 87,040,726 (GRCm39) missense probably damaging 1.00
R4783:Ugt2b34 UTSW 5 87,039,332 (GRCm39) missense probably damaging 1.00
R5046:Ugt2b34 UTSW 5 87,052,246 (GRCm39) missense probably benign 0.00
R5304:Ugt2b34 UTSW 5 87,040,724 (GRCm39) missense probably damaging 1.00
R5543:Ugt2b34 UTSW 5 87,054,560 (GRCm39) missense probably damaging 0.99
R6235:Ugt2b34 UTSW 5 87,054,223 (GRCm39) missense probably benign 0.09
R6841:Ugt2b34 UTSW 5 87,040,675 (GRCm39) missense probably benign 0.01
R7459:Ugt2b34 UTSW 5 87,049,134 (GRCm39) missense possibly damaging 0.56
R7624:Ugt2b34 UTSW 5 87,039,141 (GRCm39) missense possibly damaging 0.95
R8316:Ugt2b34 UTSW 5 87,039,249 (GRCm39) missense probably damaging 1.00
R8939:Ugt2b34 UTSW 5 87,039,158 (GRCm39) missense probably damaging 1.00
R9602:Ugt2b34 UTSW 5 87,054,163 (GRCm39) missense probably damaging 1.00
V8831:Ugt2b34 UTSW 5 87,054,533 (GRCm39) missense probably benign 0.39
Z1177:Ugt2b34 UTSW 5 87,054,578 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16