Incidental Mutation 'IGL01808:Ugt2a3'
ID 155729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2a3
Ensembl Gene ENSMUSG00000035780
Gene Name UDP glucuronosyltransferase 2 family, polypeptide A3
Synonyms 2010321J07Rik
Accession Numbers

Genbank: NM_028094; MGI: 1919344
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL01808
Quality Score
Status
Chromosome 5
Chromosomal Location 87324972-87337195 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87325555 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 501 (V501A)
Ref Sequence ENSEMBL: ENSMUSP00000031195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031195]
AlphaFold Q8BWQ1
Predicted Effect probably benign
Transcript: ENSMUST00000031195
AA Change: V501A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: V501A

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ager A T 17: 34,599,457 Q266L probably damaging Het
Amz1 A G 5: 140,741,279 probably benign Het
Ebf2 C T 14: 67,414,483 A488V probably benign Het
Gm5885 A T 6: 133,531,218 noncoding transcript Het
Gnas T C 2: 174,298,697 S220P probably damaging Het
Gpr171 G A 3: 59,098,151 P68S probably damaging Het
H2afx T C 9: 44,334,949 I63T possibly damaging Het
H2-M9 A T 17: 36,641,819 probably null Het
Igsf9 T C 1: 172,484,803 V27A probably benign Het
Kcnh6 G T 11: 106,023,927 probably benign Het
Mapkbp1 A G 2: 120,023,169 probably null Het
Mllt6 C A 11: 97,672,484 H298N possibly damaging Het
Mtmr3 A G 11: 4,497,404 I352T probably damaging Het
Mtrr T C 13: 68,566,093 D509G probably benign Het
Ncan C T 8: 70,107,440 probably null Het
Olfr612 T A 7: 103,538,574 Y220F probably damaging Het
Pcdhb4 T C 18: 37,309,014 V459A probably damaging Het
Phrf1 C A 7: 141,260,966 P1274Q probably damaging Het
Slc4a2 T C 5: 24,440,207 L1125P probably damaging Het
Synpo T C 18: 60,602,208 I650V probably benign Het
Tsc1 G A 2: 28,662,507 R86H probably damaging Het
Vmn1r203 T C 13: 22,524,547 I166T probably benign Het
Vps13a A G 19: 16,710,286 C933R probably damaging Het
Zfp142 A T 1: 74,576,025 F342Y probably damaging Het
Other mutations in Ugt2a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Ugt2a3 APN 5 87325655 missense probably damaging 0.99
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
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
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
R9387:Ugt2a3 UTSW 5 87336973 missense probably benign 0.38
R9447:Ugt2a3 UTSW 5 87325471 missense probably benign 0.39
R9524:Ugt2a3 UTSW 5 87337159 missense
Posted On 2014-02-04