Incidental Mutation 'IGL02597:Ugt2b36'
ID299883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2b36
Ensembl Gene ENSMUSG00000070704
Gene NameUDP glucuronosyltransferase 2 family, polypeptide B36
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #IGL02597
Quality Score
Status
Chromosome5
Chromosomal Location87065927-87092555 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 87080924 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 420 (T420M)
Ref Sequence ENSEMBL: ENSMUSP00000092233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094649] [ENSMUST00000132667] [ENSMUST00000145617]
Predicted Effect probably damaging
Transcript: ENSMUST00000094649
AA Change: T420M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092233
Gene: ENSMUSG00000070704
AA Change: T420M

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 527 6.9e-260 PFAM
Pfam:Glyco_tran_28_C 339 448 2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132667
SMART Domains Protein: ENSMUSP00000123024
Gene: ENSMUSG00000070704

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 105 1.1e-23 PFAM
Pfam:UDPGT 99 265 7.4e-95 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145617
AA Change: T221M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120005
Gene: ENSMUSG00000070704
AA Change: T221M

DomainStartEndE-ValueType
Pfam:UDPGT 22 249 2.1e-127 PFAM
Pfam:Glyco_tran_28_C 164 245 1.7e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154455
SMART Domains Protein: ENSMUSP00000120633
Gene: ENSMUSG00000070704

DomainStartEndE-ValueType
Pfam:UDPGT 1 198 1.2e-117 PFAM
Pfam:Glyco_tran_28_C 109 194 1.7e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 T C 2: 128,623,931 K1648E probably benign Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Atp7a A T X: 106,069,888 N34I probably benign Het
Btbd11 A G 10: 85,633,801 Y862C probably damaging Het
Casq2 A G 3: 102,126,637 Y232C probably damaging Het
Cdan1 A T 2: 120,725,239 N738K probably benign Het
Cdh24 A G 14: 54,633,515 V132A possibly damaging Het
Chd5 C A 4: 152,371,712 T946K probably damaging Het
Clip4 T C 17: 71,849,970 probably benign Het
Copz2 T C 11: 96,857,599 probably benign Het
Cyp2c39 C A 19: 39,560,887 S283* probably null Het
Dlec1 A T 9: 119,134,536 S973C probably damaging Het
Far1 A T 7: 113,551,256 T264S probably benign Het
Iqgap1 A G 7: 80,723,885 L1452P probably damaging Het
Irx5 A C 8: 92,360,772 N444T possibly damaging Het
Kcnip2 A G 19: 45,796,273 probably benign Het
Kmt2d A T 15: 98,863,831 M546K unknown Het
Lrrc37a A G 11: 103,504,287 L104S probably benign Het
Med12 T C X: 101,284,932 L1143P probably damaging Het
Mettl11b A G 1: 163,717,087 V109A probably benign Het
Mtcl1 T C 17: 66,338,021 H1477R probably benign Het
Nkap T A X: 37,147,784 probably benign Het
Olfr714 A T 7: 107,074,439 T204S possibly damaging Het
Osbpl6 C T 2: 76,555,974 Q214* probably null Het
Pex1 C T 5: 3,635,865 T1202I possibly damaging Het
Prrc2b A T 2: 32,219,613 N1066I probably damaging Het
Psmg1 T C 16: 95,987,297 E152G probably damaging Het
Scn10a A G 9: 119,610,123 I1560T probably damaging Het
Shd A G 17: 55,973,987 E221G possibly damaging Het
Slc39a4 T C 15: 76,613,624 T478A probably benign Het
Snx2 A G 18: 53,210,372 I281V probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmem161a A T 8: 70,182,043 R297S probably damaging Het
Tns1 A G 1: 73,985,873 probably null Het
Wdfy4 G A 14: 33,090,861 R1652* probably null Het
Zap70 T A 1: 36,771,920 Y178* probably null Het
Zdhhc3 A G 9: 123,100,391 F60L probably damaging Het
Other mutations in Ugt2b36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Ugt2b36 APN 5 87081581 missense possibly damaging 0.73
IGL01024:Ugt2b36 APN 5 87080869 critical splice donor site probably null
IGL01295:Ugt2b36 APN 5 87080885 missense probably damaging 1.00
IGL01331:Ugt2b36 APN 5 87090942 missense probably damaging 1.00
IGL02967:Ugt2b36 APN 5 87090900 missense possibly damaging 0.48
IGL03053:Ugt2b36 APN 5 87092074 missense possibly damaging 0.95
R0370:Ugt2b36 UTSW 5 87091975 missense probably benign 0.04
R0616:Ugt2b36 UTSW 5 87089477 missense probably benign 0.01
R0827:Ugt2b36 UTSW 5 87066375 missense possibly damaging 0.83
R0885:Ugt2b36 UTSW 5 87091989 missense probably benign 0.03
R1471:Ugt2b36 UTSW 5 87092071 missense probably damaging 1.00
R1567:Ugt2b36 UTSW 5 87092399 missense probably damaging 1.00
R1782:Ugt2b36 UTSW 5 87081581 missense possibly damaging 0.73
R1974:Ugt2b36 UTSW 5 87080868 critical splice donor site probably null
R2065:Ugt2b36 UTSW 5 87092241 missense probably benign 0.03
R2066:Ugt2b36 UTSW 5 87092241 missense probably benign 0.03
R2068:Ugt2b36 UTSW 5 87092241 missense probably benign 0.03
R2111:Ugt2b36 UTSW 5 87092241 missense probably benign 0.03
R2272:Ugt2b36 UTSW 5 87066255 missense possibly damaging 0.65
R2696:Ugt2b36 UTSW 5 87089485 missense probably damaging 1.00
R4626:Ugt2b36 UTSW 5 87092088 missense probably damaging 1.00
R4700:Ugt2b36 UTSW 5 87092442 critical splice donor site probably null
R4731:Ugt2b36 UTSW 5 87081538 nonsense probably null
R4732:Ugt2b36 UTSW 5 87081538 nonsense probably null
R4733:Ugt2b36 UTSW 5 87081538 nonsense probably null
R4922:Ugt2b36 UTSW 5 87066324 missense probably damaging 1.00
R5217:Ugt2b36 UTSW 5 87066255 missense probably damaging 0.97
R5244:Ugt2b36 UTSW 5 87091906 missense probably damaging 0.99
R5341:Ugt2b36 UTSW 5 87092228 nonsense probably null
R5478:Ugt2b36 UTSW 5 87089482 missense probably damaging 1.00
R5572:Ugt2b36 UTSW 5 87089482 missense possibly damaging 0.89
R5722:Ugt2b36 UTSW 5 87092438 nonsense probably null
R5961:Ugt2b36 UTSW 5 87080865 splice site probably null
R6034:Ugt2b36 UTSW 5 87081518 missense probably damaging 1.00
R6034:Ugt2b36 UTSW 5 87081518 missense probably damaging 1.00
R6139:Ugt2b36 UTSW 5 87092171 missense probably benign
R6145:Ugt2b36 UTSW 5 87066213 missense probably benign
R6226:Ugt2b36 UTSW 5 87092130 missense probably damaging 0.99
R6531:Ugt2b36 UTSW 5 87081586 missense probably damaging 1.00
R6704:Ugt2b36 UTSW 5 87092131 missense probably damaging 1.00
R6895:Ugt2b36 UTSW 5 87092298 missense probably benign 0.06
R7218:Ugt2b36 UTSW 5 87081539 missense probably damaging 1.00
R7258:Ugt2b36 UTSW 5 87080903 missense probably damaging 1.00
R7310:Ugt2b36 UTSW 5 87066279 missense possibly damaging 0.94
R7650:Ugt2b36 UTSW 5 87080972 missense probably damaging 1.00
R7707:Ugt2b36 UTSW 5 87081508 critical splice donor site probably null
R7866:Ugt2b36 UTSW 5 87092331 missense probably damaging 1.00
R7967:Ugt2b36 UTSW 5 87066377 missense probably damaging 1.00
R7985:Ugt2b36 UTSW 5 87092124 missense probably damaging 1.00
R8098:Ugt2b36 UTSW 5 87092393 missense probably benign 0.02
R8123:Ugt2b36 UTSW 5 87092436 missense probably damaging 1.00
Posted On2015-04-16