Incidental Mutation 'R4947:Ugt1a1'
ID 383469
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 042544-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.801) question?
Stock # R4947 (G1)
Quality Score 218
Status Validated
Chromosome 1
Chromosomal Location 88139681-88146719 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) CAGAGAGAGAGAGA to CAGAGAGAGAGA at 88139706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000049289] [ENSMUST00000058237] [ENSMUST00000073049] [ENSMUST00000073772] [ENSMUST00000097659] [ENSMUST00000113134] [ENSMUST00000113135] [ENSMUST00000150634] [ENSMUST00000113139] [ENSMUST00000173325] [ENSMUST00000140092] [ENSMUST00000126203] [ENSMUST00000113142] [ENSMUST00000138182] [ENSMUST00000113137] [ENSMUST00000113138]
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 probably benign
Transcript: ENSMUST00000073049
SMART Domains Protein: ENSMUSP00000072803
Gene: ENSMUSG00000089960

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 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 noncoding transcript
Transcript: ENSMUST00000174821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173165
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: 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
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: 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: 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: 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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.4%
Validation Efficiency 100% (88/88)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 130,959,343 (GRCm39) H119L probably damaging Het
Acvr1c T A 2: 58,205,987 (GRCm39) Q41L probably benign Het
Adamtsl1 A T 4: 85,683,037 (GRCm39) Q36L possibly damaging Het
Bcl2a1a G A 9: 88,839,335 (GRCm39) E78K probably damaging Het
Cdk5rap2 A G 4: 70,146,829 (GRCm39) probably null Het
Copg1 C A 6: 87,880,455 (GRCm39) probably benign Het
Crb2 C T 2: 37,685,343 (GRCm39) probably benign Het
Cstdc6 T C 16: 36,142,127 (GRCm39) Y83C probably damaging Het
Ctbp2 C A 7: 132,601,012 (GRCm39) G584C probably damaging Het
Cyp11b2 T C 15: 74,723,419 (GRCm39) N415S possibly damaging Het
D630003M21Rik T A 2: 158,028,116 (GRCm39) T1095S unknown Het
D630045J12Rik C T 6: 38,125,478 (GRCm39) R1512H probably damaging Het
Dnah5 T A 15: 28,272,518 (GRCm39) V1078E probably benign Het
Donson A T 16: 91,479,439 (GRCm39) D366E probably damaging Het
Evpl T C 11: 116,114,201 (GRCm39) E1163G possibly damaging Het
Fcgbp A G 7: 27,789,237 (GRCm39) K601R probably benign Het
Fez1 A C 9: 36,780,171 (GRCm39) I323L probably damaging Het
Flacc1 T A 1: 58,715,698 (GRCm39) T173S probably benign Het
Fmnl2 T G 2: 52,963,722 (GRCm39) S285A probably benign Het
Frem1 A G 4: 82,884,371 (GRCm39) S1194P probably damaging Het
Gm10754 A T 10: 97,518,010 (GRCm39) probably benign Het
Gm14226 A T 2: 154,866,879 (GRCm39) T279S probably benign Het
Gm16332 G A 1: 139,793,730 (GRCm39) noncoding transcript Het
Gm21718 T A 14: 51,553,416 (GRCm39) noncoding transcript Het
Gm9871 A G 6: 101,773,734 (GRCm39) noncoding transcript Het
Grm1 A G 10: 10,658,377 (GRCm39) F371S probably damaging Het
Gtdc1 T C 2: 44,481,968 (GRCm39) I128V probably null Het
H2-Q3 T A 17: 35,578,708 (GRCm39) noncoding transcript Het
Ibtk T C 9: 85,592,465 (GRCm39) T998A probably benign Het
Ifi204 A G 1: 173,583,316 (GRCm39) S301P probably damaging Het
Kcnn1 C A 8: 71,297,073 (GRCm39) A545S probably benign Het
Keap1 T G 9: 21,148,849 (GRCm39) S53R probably benign Het
Lat A G 7: 125,967,110 (GRCm39) V138A probably benign Het
Lrpprc A T 17: 85,078,966 (GRCm39) N249K probably benign Het
Lrrc40 A G 3: 157,769,472 (GRCm39) I557V probably benign Het
Maml3 A G 3: 51,763,960 (GRCm39) F335L probably benign Het
Mcmbp A T 7: 128,314,420 (GRCm39) D265E probably damaging Het
Me3 A G 7: 89,282,222 (GRCm39) H35R probably benign Het
Mif4gd C A 11: 115,500,463 (GRCm39) V32L probably benign Het
Mlana T C 19: 29,677,551 (GRCm39) S18P probably damaging Het
Mpnd T A 17: 56,317,268 (GRCm39) probably benign Het
Ms4a4b T C 19: 11,432,101 (GRCm39) V74A probably benign Het
Mta2 T C 19: 8,923,655 (GRCm39) F133L possibly damaging Het
Myo5a A G 9: 75,030,330 (GRCm39) M150V probably damaging Het
Nbr1 T C 11: 101,465,903 (GRCm39) V487A probably benign Het
Nos3 G A 5: 24,582,853 (GRCm39) C660Y probably damaging Het
Ocln T C 13: 100,676,223 (GRCm39) D90G probably damaging Het
Or12d17 T C 17: 37,777,634 (GRCm39) V179A probably damaging Het
Or1e1c C T 11: 73,266,243 (GRCm39) R223* probably null Het
Or52n5 A G 7: 104,587,949 (GRCm39) D72G possibly damaging Het
Or5h18 A G 16: 58,847,808 (GRCm39) L154P probably damaging Het
Pcdh7 A G 5: 57,879,258 (GRCm39) K938E probably damaging Het
Pcgf3 T C 5: 108,635,827 (GRCm39) F166L probably benign Het
Pid1 A T 1: 84,015,981 (GRCm39) V128E possibly damaging Het
Polr3a A C 14: 24,532,532 (GRCm39) D187E probably benign Het
Prokr2 T C 2: 132,215,573 (GRCm39) D135G probably damaging Het
Rnf141 T C 7: 110,424,527 (GRCm39) T14A possibly damaging Het
Serinc1 T C 10: 57,399,141 (GRCm39) E254G probably damaging Het
Silc1 A T 12: 27,210,227 (GRCm39) noncoding transcript Het
Skint11 T C 4: 114,048,707 (GRCm39) F11L possibly damaging Het
Slc22a28 T C 19: 8,108,816 (GRCm39) T109A probably benign Het
Sntg1 C A 1: 8,853,022 (GRCm39) V43L probably damaging Het
Sp140l2 G A 1: 85,090,203 (GRCm39) A124V probably damaging Het
Strn T C 17: 78,969,208 (GRCm39) D398G probably damaging Het
Tacc2 A T 7: 130,227,629 (GRCm39) E1438V probably damaging Het
Tas2r139 A G 6: 42,118,500 (GRCm39) T211A possibly damaging Het
Tbkbp1 T C 11: 97,029,770 (GRCm39) probably benign Het
Thbs3 T C 3: 89,133,738 (GRCm39) Y897H probably damaging Het
Timm50 G T 7: 28,009,469 (GRCm39) probably benign Het
Tmem132a T C 19: 10,844,298 (GRCm39) Q100R possibly damaging Het
Unc93b1 C A 19: 3,985,871 (GRCm39) T90K probably benign Het
Upk3bl T C 5: 136,086,099 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,821,860 (GRCm39) H179Q probably benign Het
Vmn2r57 A T 7: 41,049,919 (GRCm39) F610Y probably damaging Het
Vmn2r80 T G 10: 79,030,532 (GRCm39) L786R probably damaging Het
Zc3h14 A G 12: 98,726,083 (GRCm39) T323A probably benign Het
Zfp532 T C 18: 65,758,137 (GRCm39) I690T possibly damaging Het
Zfp729b T C 13: 67,744,791 (GRCm39) N47S 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
R0196:Ugt1a1 UTSW 1 88,140,277 (GRCm39) missense possibly damaging 0.67
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
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 PCR Primer
(F):5'- GGAGTAGCTGTCAGTTCAATTGC -3'
(R):5'- TATGACCACAACTTCGTGCC -3'

Sequencing Primer
(F):5'- TGCTGTTATTTGTTAAGGAACTCAG -3'
(R):5'- CTTCTGCTGGAGCTGCTGAATAAC -3'
Posted On 2016-04-27