Incidental Mutation 'R7070:Ugt1a2'
ID 548807
Institutional Source Beutler Lab
Gene Symbol Ugt1a2
Ensembl Gene ENSMUSG00000090171
Gene Name UDP glucuronosyltransferase 1 family, polypeptide A2
Synonyms
MMRRC Submission 045166-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R7070 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 88128323-88146719 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 88129224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000049289] [ENSMUST00000058237] [ENSMUST00000073772] [ENSMUST00000097659] [ENSMUST00000113134] [ENSMUST00000113135] [ENSMUST00000113137] [ENSMUST00000113138] [ENSMUST00000113139] [ENSMUST00000113142] [ENSMUST00000119972] [ENSMUST00000126203] [ENSMUST00000138182] [ENSMUST00000140092] [ENSMUST00000150634] [ENSMUST00000173325]
AlphaFold P70691
Predicted Effect probably benign
Transcript: ENSMUST00000014263
SMART Domains Protein: ENSMUSP00000014263
Gene: ENSMUSG00000054545

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 1.2e-229 PFAM
Pfam:Glyco_tran_28_C 363 448 1e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000049289
SMART Domains Protein: ENSMUSP00000037258
Gene: ENSMUSG00000090171

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:UDPGT 28 524 2.2e-247 PFAM
Pfam:Glyco_tran_28_C 363 452 4.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058237
SMART Domains Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 522 1.5e-234 PFAM
Pfam:Glyco_tran_28_C 361 450 4.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073772
SMART Domains Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 519 2.3e-232 PFAM
Pfam:Glyco_tran_28_C 358 447 4.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097659
SMART Domains Protein: ENSMUSP00000095263
Gene: ENSMUSG00000089943

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:UDPGT 25 520 6.7e-246 PFAM
Pfam:Glyco_tran_28_C 359 448 1.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113134
SMART Domains Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 2.7e-232 PFAM
Pfam:Glyco_tran_28_C 361 450 4.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113135
SMART Domains Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 1.2e-229 PFAM
Pfam:Glyco_tran_28_C 363 448 1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113137
SMART Domains Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 1.3e-231 PFAM
Pfam:Glyco_tran_28_C 361 450 2.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113138
SMART Domains Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 7.3e-229 PFAM
Pfam:Glyco_tran_28_C 363 448 6.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113139
SMART Domains Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 521 3.6e-237 PFAM
Pfam:Glyco_tran_28_C 360 449 1.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113142
SMART Domains Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 521 7.3e-231 PFAM
Pfam:Glyco_tran_28_C 360 449 1.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119972
SMART Domains Protein: ENSMUSP00000112703
Gene: ENSMUSG00000081984

DomainStartEndE-ValueType
DnaJ 2 61 6.22e-33 SMART
low complexity region 69 81 N/A INTRINSIC
low complexity region 104 119 N/A INTRINSIC
low complexity region 126 138 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126203
SMART Domains Protein: ENSMUSP00000116653
Gene: ENSMUSG00000090124

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 62 4.6e-11 PFAM
Pfam:UDPGT 59 127 8.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138182
SMART Domains Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 62 7e-11 PFAM
Pfam:UDPGT 58 207 1.9e-90 PFAM
Pfam:Glyco_tran_28_C 137 207 4.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140092
SMART Domains Protein: ENSMUSP00000115642
Gene: ENSMUSG00000054545

DomainStartEndE-ValueType
Pfam:UDPGT 1 166 9.3e-98 PFAM
Pfam:Glyco_tran_28_C 96 166 4.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150634
SMART Domains Protein: ENSMUSP00000123452
Gene: ENSMUSG00000090124

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 62 9.5e-11 PFAM
Pfam:UDPGT 58 207 2e-90 PFAM
Pfam:Glyco_tran_28_C 137 207 4.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173325
SMART Domains Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 61 3.4e-10 PFAM
Pfam:UDPGT 59 210 8.9e-92 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,930,232 (GRCm39) Y156H probably damaging Het
Abca13 T A 11: 9,240,701 (GRCm39) F855I probably benign Het
Abca2 T G 2: 25,333,007 (GRCm39) F1569V probably benign Het
Adcy8 T A 15: 64,792,404 (GRCm39) N184I probably damaging Het
Akap3 T C 6: 126,850,987 (GRCm39) V835A probably damaging Het
Atg5 T A 10: 44,162,150 (GRCm39) L22H probably damaging Het
Atp13a5 A G 16: 29,152,879 (GRCm39) F196L possibly damaging Het
C1qtnf9 A G 14: 61,017,232 (GRCm39) H254R probably damaging Het
Capza3 C T 6: 139,987,646 (GRCm39) R82C probably damaging Het
Ccdc126 A G 6: 49,316,796 (GRCm39) D92G probably damaging Het
Cdh12 T A 15: 21,583,915 (GRCm39) M585K probably benign Het
Chrnb3 A T 8: 27,883,989 (GRCm39) Y242F probably damaging Het
Cngb3 T C 4: 19,425,593 (GRCm39) V467A possibly damaging Het
Cnot8 A G 11: 58,008,278 (GRCm39) D248G probably benign Het
Cntn1 C T 15: 92,151,917 (GRCm39) T452M probably damaging Het
Cygb C A 11: 116,544,851 (GRCm39) probably benign Het
D930020B18Rik G A 10: 121,477,879 (GRCm39) V35M probably damaging Het
Dcaf17 C T 2: 70,918,857 (GRCm39) T477M probably benign Het
Dpp3 A T 19: 4,968,356 (GRCm39) F239I probably benign Het
Dst T A 1: 34,314,383 (GRCm39) V6442E probably damaging Het
Enpp2 T A 15: 54,762,685 (GRCm39) I188F probably damaging Het
Galnt5 A G 2: 57,888,621 (GRCm39) M74V probably benign Het
Grin2a T C 16: 9,397,288 (GRCm39) D933G possibly damaging Het
Gtf2i T A 5: 134,311,657 (GRCm39) E223D probably damaging Het
H2-M5 C A 17: 37,300,051 (GRCm39) G41V possibly damaging Het
Hars2 C T 18: 36,924,165 (GRCm39) R501* probably null Het
Heatr4 A G 12: 84,016,632 (GRCm39) V545A probably benign Het
Hsd3b3 T A 3: 98,649,787 (GRCm39) T179S possibly damaging Het
Ighv5-6 A G 12: 113,589,429 (GRCm39) V17A probably damaging Het
Jak3 A G 8: 72,137,255 (GRCm39) D772G probably damaging Het
Jakmip2 A T 18: 43,690,393 (GRCm39) probably null Het
Kcnj15 C G 16: 95,096,690 (GRCm39) T104S probably damaging Het
Kndc1 A G 7: 139,501,744 (GRCm39) E927G probably damaging Het
Larp1b G T 3: 40,931,086 (GRCm39) G275C probably damaging Het
Lyst C A 13: 13,932,029 (GRCm39) H3552Q probably benign Het
Mast2 A T 4: 116,168,052 (GRCm39) I960N probably benign Het
Mcee G A 7: 64,050,078 (GRCm39) V70I possibly damaging Het
Muc16 G A 9: 18,557,219 (GRCm39) Q3025* probably null Het
Nrg1 T A 8: 32,339,465 (GRCm39) T45S probably damaging Het
Nutm1 T A 2: 112,079,806 (GRCm39) H703L probably benign Het
Or5m10 G A 2: 85,718,034 (GRCm39) V297I probably benign Het
Or7a38 A T 10: 78,753,102 (GRCm39) I143L probably benign Het
Pbx1 A C 1: 168,023,337 (GRCm39) C273G probably damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Phf1 A G 17: 27,153,307 (GRCm39) T42A possibly damaging Het
Pigm T A 1: 172,205,233 (GRCm39) I323N probably damaging Het
Plcg2 G A 8: 118,323,045 (GRCm39) R700H probably benign Het
Ptx4 G A 17: 25,341,971 (GRCm39) A149T probably benign Het
Rab6a A G 7: 100,279,064 (GRCm39) D68G probably damaging Het
Rcan3 C T 4: 135,143,898 (GRCm39) E185K probably damaging Het
Rnf14 A G 18: 38,434,781 (GRCm39) N76S possibly damaging Het
Rpf1 A T 3: 146,217,939 (GRCm39) F192I probably damaging Het
Rps6ka1 T C 4: 133,588,759 (GRCm39) T285A probably benign Het
Rrp8 T C 7: 105,384,083 (GRCm39) K94E possibly damaging Het
Rsbn1 A G 3: 103,836,299 (GRCm39) K122E probably damaging Het
Senp1 T C 15: 97,980,187 (GRCm39) T53A possibly damaging Het
Slc23a1 T G 18: 35,754,834 (GRCm39) D519A probably damaging Het
Slfn14 T G 11: 83,167,531 (GRCm39) R661S probably benign Het
Snta1 T C 2: 154,222,979 (GRCm39) E248G probably benign Het
Son CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG 16: 91,453,729 (GRCm39) probably benign Het
Spmap2l G T 5: 77,195,124 (GRCm39) probably null Het
Stk11ip C T 1: 75,504,259 (GRCm39) H297Y probably benign Het
Synpr T A 14: 13,493,628 (GRCm38) F76I probably damaging Het
Tns2 A G 15: 102,012,968 (GRCm39) R27G possibly damaging Het
Trav5-4 C T 14: 53,941,912 (GRCm39) S95F possibly damaging Het
Ttyh1 T C 7: 4,136,363 (GRCm39) Y330H probably damaging Het
Vmn2r69 T C 7: 85,060,688 (GRCm39) I299V probably damaging Het
Vmn2r90 T A 17: 17,924,313 (GRCm39) D37E probably damaging Het
Other mutations in Ugt1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02148:Ugt1a2 APN 1 88,128,796 (GRCm39) missense probably damaging 1.00
R0680:Ugt1a2 UTSW 1 88,128,933 (GRCm39) missense probably damaging 1.00
R1770:Ugt1a2 UTSW 1 88,129,160 (GRCm39) missense probably benign 0.01
R2122:Ugt1a2 UTSW 1 88,128,735 (GRCm39) missense possibly damaging 0.89
R2511:Ugt1a2 UTSW 1 88,128,846 (GRCm39) missense probably damaging 1.00
R4890:Ugt1a2 UTSW 1 88,128,534 (GRCm39) missense probably damaging 0.99
R5485:Ugt1a2 UTSW 1 88,128,968 (GRCm39) missense probably damaging 0.96
R5603:Ugt1a2 UTSW 1 88,129,148 (GRCm39) missense probably damaging 1.00
R5827:Ugt1a2 UTSW 1 88,128,787 (GRCm39) missense probably damaging 0.99
R7120:Ugt1a2 UTSW 1 88,128,522 (GRCm39) missense probably damaging 1.00
R7644:Ugt1a2 UTSW 1 88,128,507 (GRCm39) missense probably damaging 1.00
R8374:Ugt1a2 UTSW 1 88,129,107 (GRCm39) missense possibly damaging 0.51
R9202:Ugt1a2 UTSW 1 88,128,375 (GRCm39) missense probably benign 0.16
R9235:Ugt1a2 UTSW 1 88,128,488 (GRCm39) missense possibly damaging 0.82
R9402:Ugt1a2 UTSW 1 88,128,684 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- GGTCCTGAAGTACATTTGCCG -3'
(R):5'- AGAACTAGGCCCCTCACCTTAG -3'

Sequencing Primer
(F):5'- TCACTCCCTATGAAAGCCTGG -3'
(R):5'- GCCTTAGTCCCAAAGTATGTCATGG -3'
Posted On 2019-05-13