Incidental Mutation 'R0196:Ugt1a1'
ID 65793
Institutional Source Beutler Lab
Gene Symbol Ugt1a1
Ensembl Gene ENSMUSG00000089960
Gene Name UDP glucuronosyltransferase 1 family, polypeptide A1
Synonyms Udpgt-1a, UgtBr1, UGT1A01, Gnt1
MMRRC Submission 038455-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.801) question?
Stock # R0196 (G1)
Quality Score 170
Status Not validated
Chromosome 1
Chromosomal Location 88139681-88146719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88140277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 185 (A185V)
Ref Sequence ENSEMBL: ENSMUSP00000072803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000049289] [ENSMUST00000058237] [ENSMUST00000073049] [ENSMUST00000073772] [ENSMUST00000097659] [ENSMUST00000113134] [ENSMUST00000113138] [ENSMUST00000113137] [ENSMUST00000113142] [ENSMUST00000138182] [ENSMUST00000126203] [ENSMUST00000113135] [ENSMUST00000150634] [ENSMUST00000113139] [ENSMUST00000140092] [ENSMUST00000173325]
AlphaFold Q63886
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 benign
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 possibly damaging
Transcript: ENSMUST00000073049
AA Change: A185V

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072803
Gene: ENSMUSG00000089960
AA Change: A185V

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:UDPGT 30 526 5.8e-241 PFAM
Pfam:Glyco_tran_28_C 365 454 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 noncoding transcript
Transcript: ENSMUST00000124852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173165
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: 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: 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: 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: 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: 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: 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: 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: 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: 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 noncoding transcript
Transcript: ENSMUST00000174821
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: 98.8%
  • 3x: 97.7%
  • 10x: 93.8%
  • 20x: 81.8%
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. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,446,591 (GRCm39) probably benign Het
Aass G A 6: 23,109,519 (GRCm39) P317L probably damaging Het
Abca12 T A 1: 71,298,972 (GRCm39) N2313I possibly damaging Het
Adamts12 T C 15: 11,071,594 (GRCm39) I46T probably benign Het
Adipoq T G 16: 22,965,393 (GRCm39) probably null Het
Amy1 A T 3: 113,363,070 (GRCm39) D92E probably benign Het
Asb15 G A 6: 24,564,392 (GRCm39) R282Q probably damaging Het
Bag6 G C 17: 35,363,239 (GRCm39) G693A probably damaging Het
Birc6 T C 17: 74,887,282 (GRCm39) I870T possibly damaging Het
Cand2 A G 6: 115,766,463 (GRCm39) K356R probably damaging Het
Cbfa2t3 T C 8: 123,360,076 (GRCm39) Q525R possibly damaging Het
Cd4 T C 6: 124,844,769 (GRCm39) R339G probably damaging Het
Cdh8 A G 8: 99,917,066 (GRCm39) S350P probably damaging Het
Cep295 A T 9: 15,249,509 (GRCm39) S469T probably damaging Het
Ckap2l A T 2: 129,127,342 (GRCm39) S279T probably benign Het
Clnk T A 5: 38,927,282 (GRCm39) N66Y probably damaging Het
Col27a1 A T 4: 63,142,503 (GRCm39) T64S probably benign Het
Crtc1 T C 8: 70,838,871 (GRCm39) D599G probably damaging Het
Cyp2c23 A C 19: 44,000,795 (GRCm39) I363S probably damaging Het
Dnah10 A T 5: 124,911,139 (GRCm39) I4519F possibly damaging Het
Dner T A 1: 84,348,553 (GRCm39) I716F probably damaging Het
Dsel T G 1: 111,789,333 (GRCm39) T401P possibly damaging Het
Egfr A G 11: 16,861,746 (GRCm39) D1175G probably benign Het
Ephb3 A T 16: 21,036,804 (GRCm39) N343I probably damaging Het
Fbxw10 T A 11: 62,768,070 (GRCm39) F974I probably benign Het
Gfi1b T C 2: 28,503,786 (GRCm39) Y138C probably damaging Het
Gm11168 T A 9: 3,005,175 (GRCm39) L6H probably benign Het
Grb10 A C 11: 11,895,583 (GRCm39) V247G probably damaging Het
Gstp2 A T 19: 4,090,514 (GRCm39) probably null Het
Hars2 C T 18: 36,922,257 (GRCm39) Q291* probably null Het
Hyal4 G T 6: 24,756,220 (GRCm39) W146L probably damaging Het
Il22ra1 C T 4: 135,461,556 (GRCm39) T107I possibly damaging Het
Itga8 A G 2: 12,209,540 (GRCm39) probably null Het
Klhl25 T C 7: 75,515,450 (GRCm39) S119P probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lrrc8c T C 5: 105,754,636 (GRCm39) V137A probably benign Het
Macrod2 A T 2: 142,018,545 (GRCm39) E226V probably damaging Het
Mcemp1 A T 8: 3,718,201 (GRCm39) Q165L probably benign Het
Mcpt9 T A 14: 56,265,453 (GRCm39) K82M probably benign Het
Mpzl3 A G 9: 44,973,458 (GRCm39) T66A probably damaging Het
Msh6 G A 17: 88,287,788 (GRCm39) V143I possibly damaging Het
Mug1 G A 6: 121,815,684 (GRCm39) probably null Het
Ncr1 G T 7: 4,343,972 (GRCm39) C153F probably damaging Het
Nf1 T A 11: 79,359,595 (GRCm39) M1411K possibly damaging Het
Nf1 T A 11: 79,469,098 (GRCm39) V786D probably damaging Het
Nisch T C 14: 30,925,351 (GRCm39) probably benign Het
Nwd2 T A 5: 63,963,694 (GRCm39) Y1093N probably benign Het
Oas3 G A 5: 120,894,210 (GRCm39) R39C probably damaging Het
Or1e32 A T 11: 73,705,731 (GRCm39) M59K probably damaging Het
Or7a36 C T 10: 78,820,023 (GRCm39) T133I possibly damaging Het
Oxa1l T C 14: 54,600,944 (GRCm39) I139T probably damaging Het
P3h3 T A 6: 124,822,235 (GRCm39) N583Y probably damaging Het
Pcdh18 A T 3: 49,711,147 (GRCm39) probably null Het
Pcnp C T 16: 55,844,896 (GRCm39) probably benign Het
Pdzd8 G T 19: 59,289,563 (GRCm39) D612E probably benign Het
Pi4kb T C 3: 94,906,261 (GRCm39) S8P probably damaging Het
Pikfyve T G 1: 65,295,231 (GRCm39) V1454G possibly damaging Het
Podn T C 4: 107,878,695 (GRCm39) N246D probably damaging Het
Prg4 T C 1: 150,330,243 (GRCm39) probably benign Het
R3hdm2 T C 10: 127,320,390 (GRCm39) Y523H probably damaging Het
Rpf1 T A 3: 146,213,904 (GRCm39) E231V possibly damaging Het
Slc16a10 C T 10: 39,932,611 (GRCm39) E317K probably benign Het
Slc34a1 A T 13: 55,560,078 (GRCm39) I435F probably damaging Het
Snx19 A G 9: 30,344,683 (GRCm39) D629G probably damaging Het
Tomm70a T C 16: 56,966,463 (GRCm39) I472T probably benign Het
Trp53 A G 11: 69,479,506 (GRCm39) Y202C probably damaging Het
Ttc14 T A 3: 33,863,403 (GRCm39) probably benign Het
Usp28 A G 9: 48,939,578 (GRCm39) D655G probably damaging Het
Vmn1r215 C T 13: 23,260,254 (GRCm39) T98I probably damaging Het
Vmn2r121 G T X: 123,041,879 (GRCm39) T426N probably benign Het
Vmn2r99 A G 17: 19,614,835 (GRCm39) N852D probably benign Het
Xrn2 T A 2: 146,889,580 (GRCm39) D654E probably damaging Het
Yju2 C A 17: 56,271,653 (GRCm39) D191E probably damaging Het
Zfp335 C G 2: 164,738,065 (GRCm39) A849P possibly damaging Het
Zfp954 C T 7: 7,118,390 (GRCm39) V385M probably damaging Het
Zmynd15 A G 11: 70,355,052 (GRCm39) T350A probably damaging Het
Other mutations in Ugt1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02984:Ugt1a1 UTSW 1 88,140,093 (GRCm39) frame shift probably null
IGL03055:Ugt1a1 UTSW 1 88,140,093 (GRCm39) frame shift probably null
IGL03134:Ugt1a1 UTSW 1 88,140,093 (GRCm39) frame shift probably null
IGL03138:Ugt1a1 UTSW 1 88,140,093 (GRCm39) frame shift probably null
IGL03147:Ugt1a1 UTSW 1 88,140,093 (GRCm39) frame shift probably null
R0398:Ugt1a1 UTSW 1 88,140,093 (GRCm39) frame shift probably null
R0442:Ugt1a1 UTSW 1 88,140,093 (GRCm39) frame shift probably null
R2871:Ugt1a1 UTSW 1 88,140,093 (GRCm39) frame shift probably null
R2872:Ugt1a1 UTSW 1 88,140,093 (GRCm39) frame shift probably null
R4391:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R4392:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R4393:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R4394:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R4397:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R4402:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R4664:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R4665:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R4947:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R4961:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R4986:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R5052:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R6464:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R6618:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R8215:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
R8243:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
Z1188:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
Z1190:Ugt1a1 UTSW 1 88,139,706 (GRCm39) intron probably benign
Predicted Primers
Posted On 2013-08-19