Incidental Mutation 'IGL01369:Ugt2a3'
ID76054
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: 0.108) question?
Stock #IGL01369
Quality Score
Status
Chromosome5
Chromosomal Location87324972-87337195 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87327120 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 422 (S422G)
Ref Sequence ENSEMBL: ENSMUSP00000031195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031195]
Predicted Effect probably damaging
Transcript: ENSMUST00000031195
AA Change: S422G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: S422G

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,437,056 T96A probably damaging Het
Adam34 T A 8: 43,651,057 K517M probably benign Het
Atm A T 9: 53,515,317 I547N probably benign Het
Cadm4 A T 7: 24,499,522 D74V possibly damaging Het
Caprin1 G A 2: 103,768,865 P46S probably damaging Het
Cbl A T 9: 44,201,061 Y112* probably null Het
Ccdc180 T C 4: 45,900,256 V246A probably benign Het
Chd1 A T 17: 15,754,997 E1103V probably damaging Het
Clock G A 5: 76,237,086 P428L probably benign Het
Cntn2 T A 1: 132,516,105 I979F probably benign Het
Col2a1 A G 15: 97,977,826 S1193P unknown Het
Fam205a1 T C 4: 42,852,548 probably null Het
Fga A T 3: 83,030,200 Y128F probably benign Het
Glyr1 A T 16: 5,020,288 D365E probably benign Het
Gm436 T C 4: 144,674,645 T90A possibly damaging Het
Gmppb G A 9: 108,051,247 probably null Het
Gmps A T 3: 64,001,592 H505L probably benign Het
Hexim2 A G 11: 103,138,638 N172S probably benign Het
Hmgcr T C 13: 96,666,522 E65G probably null Het
Hsd17b4 T C 18: 50,172,033 S446P possibly damaging Het
Kirrel3 C T 9: 35,016,441 T382I probably benign Het
Klra7 A T 6: 130,226,535 Y169* probably null Het
Lmbrd1 T C 1: 24,705,974 probably benign Het
Loxhd1 A G 18: 77,329,201 E211G possibly damaging Het
Maf1 T A 15: 76,352,692 F44I probably damaging Het
Mmd2 A G 5: 142,575,229 S84P probably damaging Het
Morc2b T C 17: 33,138,165 E211G probably benign Het
Mov10l1 T C 15: 89,024,837 probably benign Het
Mycbp2 C A 14: 103,155,510 C3205F possibly damaging Het
Myg1 G A 15: 102,334,338 V155M probably benign Het
Ncam2 A G 16: 81,461,571 N247S probably benign Het
Nek11 A G 9: 105,300,060 probably null Het
Nt5dc3 T A 10: 86,820,275 probably benign Het
Nudcd3 A G 11: 6,150,551 Y134H probably damaging Het
Ogfod1 T C 8: 94,063,091 probably null Het
Olfr1451 A T 19: 12,999,761 L258F possibly damaging Het
Orm2 T C 4: 63,362,978 V51A probably benign Het
P2ry14 T C 3: 59,115,335 I244V probably damaging Het
Poll A G 19: 45,553,676 V397A probably damaging Het
Ppdpf C A 2: 181,187,894 probably benign Het
Ptch1 T C 13: 63,511,681 E1249G probably benign Het
Rdh16f1 C A 10: 127,759,975 T13K probably benign Het
Rrp1 G A 10: 78,405,071 probably benign Het
Sec14l2 A G 11: 4,103,432 M346T probably benign Het
Sh2d2a A T 3: 87,851,829 Q246L probably benign Het
Slc44a1 G A 4: 53,491,448 D62N probably damaging Het
Snx22 A G 9: 66,068,778 Y58H probably damaging Het
Ttn T A 2: 76,769,435 D19104V probably damaging Het
Zfyve19 G T 2: 119,210,613 probably benign 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
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
Posted On2013-10-07