Incidental Mutation 'IGL00509:Ugt2a3'
ID5600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2a3
Ensembl Gene ENSMUSG00000035780
Gene NameUDP glucuronosyltransferase 2 family, polypeptide A3
Synonyms2010321J07Rik
Accession Numbers

Genbank: NM_028094; MGI: 1919344

Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL00509
Quality Score
Status
Chromosome5
Chromosomal Location87324972-87337195 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87325655 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 468 (M468L)
Ref Sequence ENSEMBL: ENSMUSP00000031195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031195]
Predicted Effect probably damaging
Transcript: ENSMUST00000031195
AA Change: M468L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: M468L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:UDPGT 24 526 1.2e-233 PFAM
Pfam:Glyco_tran_28_C 318 454 1.5e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,243,243 probably null Het
Abr A G 11: 76,423,089 L514P probably damaging Het
Ahnak T A 19: 9,009,951 D2866E possibly damaging Het
Bfsp1 T A 2: 143,831,892 T293S probably damaging Het
Ccr1 C T 9: 123,964,053 V147I probably benign Het
Cd84 T C 1: 171,852,137 probably null Het
Cep192 T C 18: 67,858,868 V1939A possibly damaging Het
Chrnb4 A T 9: 55,036,594 L80Q probably damaging Het
Ckmt2 A T 13: 91,863,263 L76H probably damaging Het
Cntnap2 C T 6: 46,015,263 P375S possibly damaging Het
Cped1 A T 6: 22,215,523 L685F probably damaging Het
Dab2ip T C 2: 35,720,013 S682P probably damaging Het
Dclk1 A T 3: 55,247,286 T46S probably damaging Het
Eif2d T A 1: 131,166,352 C427S probably benign Het
Fat4 T A 3: 38,889,039 Y694N probably damaging Het
Gm15217 T C 14: 46,383,311 probably benign Het
Gpr35 T C 1: 92,982,872 I102T probably damaging Het
Grk4 T A 5: 34,716,290 N233K probably damaging Het
Hdac3 T C 18: 37,954,885 D10G possibly damaging Het
Hexb G A 13: 97,181,929 T308M probably damaging Het
Inpp5j C A 11: 3,501,595 D436Y possibly damaging Het
Kif18a A G 2: 109,317,988 E609G possibly damaging Het
Kif24 T C 4: 41,413,826 probably null Het
Lrp4 G A 2: 91,486,174 probably benign Het
Mat2b T C 11: 40,684,727 K161E possibly damaging Het
Nek2 T G 1: 191,827,378 probably benign Het
Numa1 A G 7: 102,013,286 T1965A possibly damaging Het
Oca2 G A 7: 56,280,846 G137D probably damaging Het
Pdcl2 T A 5: 76,325,112 D3V probably damaging Het
Ranbp17 T C 11: 33,493,402 N91S probably benign Het
Siglech A T 7: 55,768,887 D146V possibly damaging Het
Slc4a3 C T 1: 75,555,083 T898M probably damaging Het
Sp3 A G 2: 72,938,062 probably benign Het
Tln1 C T 4: 43,542,719 V1396I probably benign Het
Other mutations in Ugt2a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00542:Ugt2a3 APN 5 87336823 missense possibly damaging 0.61
IGL01335:Ugt2a3 APN 5 87336785 missense probably damaging 1.00
IGL01369:Ugt2a3 APN 5 87327120 missense probably damaging 1.00
IGL01808:Ugt2a3 APN 5 87325555 missense probably benign 0.09
IGL02380:Ugt2a3 APN 5 87336799 missense probably benign 0.09
IGL03245:Ugt2a3 APN 5 87336580 missense probably damaging 1.00
IGL03260:Ugt2a3 APN 5 87336580 missense probably damaging 1.00
IGL03261:Ugt2a3 APN 5 87336580 missense probably damaging 1.00
IGL03280:Ugt2a3 APN 5 87336580 missense probably damaging 1.00
IGL03302:Ugt2a3 APN 5 87336580 missense probably damaging 1.00
D4186:Ugt2a3 UTSW 5 87329613 missense probably damaging 1.00
R0051:Ugt2a3 UTSW 5 87337006 missense probably damaging 1.00
R0103:Ugt2a3 UTSW 5 87336718 missense possibly damaging 0.89
R0103:Ugt2a3 UTSW 5 87336718 missense possibly damaging 0.89
R0324:Ugt2a3 UTSW 5 87327073 critical splice donor site probably null
R0401:Ugt2a3 UTSW 5 87336490 missense probably benign 0.03
R0506:Ugt2a3 UTSW 5 87336649 missense possibly damaging 0.78
R0903:Ugt2a3 UTSW 5 87327711 missense probably benign 0.00
R0940:Ugt2a3 UTSW 5 87327206 missense possibly damaging 0.95
R1121:Ugt2a3 UTSW 5 87327689 missense probably damaging 0.99
R1296:Ugt2a3 UTSW 5 87327146 missense probably damaging 0.96
R1527:Ugt2a3 UTSW 5 87325598 missense probably damaging 1.00
R2104:Ugt2a3 UTSW 5 87329682 splice site probably null
R2119:Ugt2a3 UTSW 5 87336571 missense probably damaging 0.98
R2374:Ugt2a3 UTSW 5 87327191 missense probably damaging 1.00
R3082:Ugt2a3 UTSW 5 87325675 missense probably benign 0.05
R3853:Ugt2a3 UTSW 5 87337159 missense possibly damaging 0.74
R3894:Ugt2a3 UTSW 5 87329590 missense probably benign 0.09
R4063:Ugt2a3 UTSW 5 87336866 missense probably benign 0.04
R4274:Ugt2a3 UTSW 5 87327689 missense probably damaging 0.99
R4739:Ugt2a3 UTSW 5 87327195 missense probably damaging 0.97
R4879:Ugt2a3 UTSW 5 87331285 missense probably benign 0.06
R5327:Ugt2a3 UTSW 5 87331315 missense probably damaging 1.00
R5508:Ugt2a3 UTSW 5 87327200 missense probably damaging 0.98
R5866:Ugt2a3 UTSW 5 87336547 missense probably damaging 1.00
R6026:Ugt2a3 UTSW 5 87336477 missense probably benign 0.00
R6268:Ugt2a3 UTSW 5 87329613 missense probably damaging 1.00
R6807:Ugt2a3 UTSW 5 87336758 missense probably benign 0.00
R6980:Ugt2a3 UTSW 5 87325632 missense probably damaging 1.00
R7056:Ugt2a3 UTSW 5 87337094 missense probably damaging 0.98
R7133:Ugt2a3 UTSW 5 87325534 missense possibly damaging 0.61
R7477:Ugt2a3 UTSW 5 87336620 missense possibly damaging 0.90
R7485:Ugt2a3 UTSW 5 87327680 critical splice donor site probably null
R7798:Ugt2a3 UTSW 5 87327723 missense probably damaging 1.00
R7957:Ugt2a3 UTSW 5 87327191 missense probably damaging 1.00
R8803:Ugt2a3 UTSW 5 87336530 missense probably damaging 0.98
R8886:Ugt2a3 UTSW 5 87336499 missense probably damaging 1.00
R8944:Ugt2a3 UTSW 5 87325558 missense possibly damaging 0.81
Posted On2012-04-20