Incidental Mutation 'IGL01089:Ugt2b34'
ID51080
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: 0.110) question?
Stock #IGL01089
Quality Score
Status
Chromosome5
Chromosomal Location86889767-86906937 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 86906326 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 199 (V199I)
Ref Sequence ENSEMBL: ENSMUSP00000031181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031181] [ENSMUST00000113333]
Predicted Effect probably benign
Transcript: ENSMUST00000031181
AA Change: V199I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000031181
Gene: ENSMUSG00000029260
AA Change: V199I

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: V199I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108959
Gene: ENSMUSG00000029260
AA Change: V199I

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,003,337 E180G possibly damaging Het
Actr8 T C 14: 29,988,335 L353S probably damaging Het
Adgrf2 G A 17: 42,710,158 P592S probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Afap1l2 A C 19: 56,913,411 probably null Het
Asnsd1 G A 1: 53,348,277 P64S probably damaging Het
Bmt2 A G 6: 13,663,271 M76T probably damaging Het
Clca3b A T 3: 144,823,522 V797D probably benign Het
Cog2 T C 8: 124,545,243 S499P probably benign Het
Cyp27a1 A T 1: 74,731,938 Y94F possibly damaging Het
D430042O09Rik A G 7: 125,795,313 E187G probably damaging Het
D630045J12Rik A G 6: 38,136,963 S1765P probably benign Het
Fam149a A G 8: 45,348,527 L519P possibly damaging Het
Fam171a2 G A 11: 102,437,848 A695V possibly damaging Het
Fat1 T A 8: 45,017,857 V1566E probably damaging Het
Flvcr1 T G 1: 191,013,390 N361H probably damaging Het
Gm1110 T C 9: 26,881,860 N540S probably benign Het
Kcns3 T A 12: 11,091,571 T376S possibly damaging Het
Krt32 A G 11: 100,087,779 S150P probably benign Het
Lrtm2 C T 6: 119,320,792 R96Q possibly damaging Het
Mctp1 A G 13: 77,020,798 E838G probably damaging Het
Mios T C 6: 8,234,363 probably null Het
Olfr338 A T 2: 36,377,166 Y130F probably damaging Het
Phldb1 T A 9: 44,707,887 K167* probably null Het
Pkhd1l1 A G 15: 44,483,869 probably benign Het
Plaa A G 4: 94,574,047 V531A probably benign Het
Psmb2 A G 4: 126,684,206 Y59C probably damaging Het
Ptprg A G 14: 12,215,286 H1091R probably damaging Het
Rbm44 T A 1: 91,168,697 V926D possibly damaging Het
Rgma G T 7: 73,409,714 V189L possibly damaging Het
Sbf2 A T 7: 110,348,962 I1227K probably damaging Het
Slc8a1 T C 17: 81,648,281 T443A probably damaging Het
Slc8a1 A G 17: 81,388,881 V896A probably damaging Het
Taf2 T C 15: 55,016,581 M1120V probably benign Het
Unc5c C A 3: 141,818,202 probably benign Het
Usp37 G A 1: 74,493,046 R63* probably null 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
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
IGL03335:Ugt2b34 APN 5 86906640 missense probably benign 0.29
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 On2013-06-21