Mutagenetix > Incidental Mutation

Incidental Mutation 'R5052:Ugt1a1'

394675

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

042642-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.801) question?

Stock #

R5052 (G1)

Quality Score

217

Status

Validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 99.1%
3x: 98.0%
10x: 94.8%
20x: 86.2%

Validation Efficiency

100% (58/58)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	T	3: 121,563,162 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,676,940 (GRCm39)	T1964A	probably damaging	Het
Agbl5	C	T	5: 31,048,558 (GRCm39)	T210I	possibly damaging	Het
Ak5	T	C	3: 152,366,204 (GRCm39)	T66A	probably benign	Het
Aktip	G	A	8: 91,856,279 (GRCm39)	T66I	possibly damaging	Het
Aldh1l2	T	C	10: 83,344,556 (GRCm39)	Y330C	possibly damaging	Het
Btbd19	T	G	4: 116,979,454 (GRCm39)	K122Q	possibly damaging	Het
Cd180	A	G	13: 102,841,403 (GRCm39)	T150A	probably benign	Het
Celsr2	A	G	3: 108,319,674 (GRCm39)	I1046T	probably damaging	Het
Cep170	C	T	1: 176,621,117 (GRCm39)	R20Q	probably damaging	Het
Cercam	T	A	2: 29,765,639 (GRCm39)	N260K	probably damaging	Het
Cfh	T	A	1: 140,071,782 (GRCm39)	H284L	probably damaging	Het
Chmp5	A	G	4: 40,948,608 (GRCm39)	M1V	probably null	Het
Elp3	A	T	14: 65,815,389 (GRCm39)	I220N	probably damaging	Het
Esyt2	A	G	12: 116,331,416 (GRCm39)	T765A	probably damaging	Het
Evi5l	T	C	8: 4,256,019 (GRCm39)		probably benign	Het
Gm5866	T	G	5: 52,740,234 (GRCm39)		noncoding transcript	Het
Grik1	C	A	16: 87,746,986 (GRCm39)	G417V	probably benign	Het
Gtpbp1	T	G	15: 79,600,170 (GRCm39)	I399R	probably damaging	Het
Il17rc	T	C	6: 113,449,284 (GRCm39)	C14R	probably damaging	Het
Ipo9	T	C	1: 135,316,349 (GRCm39)		probably null	Het
Kazn	G	A	4: 141,845,514 (GRCm39)		probably benign	Het
Map3k15	T	C	X: 158,771,742 (GRCm39)	V105A	possibly damaging	Het
Mitf	A	G	6: 97,987,406 (GRCm39)	T320A	possibly damaging	Het
Ncapd3	T	G	9: 26,963,015 (GRCm39)	L440R	probably damaging	Het
Nrxn2	C	G	19: 6,505,234 (GRCm39)	A359G	probably damaging	Het
P2rx3	T	G	2: 84,829,368 (GRCm39)	I371L	probably benign	Het
Pde1b	C	A	15: 103,436,075 (GRCm39)	Q493K	possibly damaging	Het
Ptpn13	T	C	5: 103,709,846 (GRCm39)	F1503S	probably damaging	Het
Ptprz1	T	G	6: 23,045,625 (GRCm39)	W1283G	probably damaging	Het
Rasd2	T	A	8: 75,948,564 (GRCm39)	D163E	possibly damaging	Het
Rgs11	A	G	17: 26,426,947 (GRCm39)		probably benign	Het
Scap	T	C	9: 110,182,220 (GRCm39)	I37T	possibly damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Slc25a54	A	G	3: 109,010,016 (GRCm39)	I172V	probably benign	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Tacc2	T	A	7: 130,336,744 (GRCm39)	D171E	probably damaging	Het
Tmco4	A	G	4: 138,785,817 (GRCm39)	E629G	probably benign	Het
Trav7-1	T	G	14: 52,892,765 (GRCm39)	L106R	possibly damaging	Het
Utf1	T	C	7: 139,524,814 (GRCm39)		probably benign	Het
Zdhhc13	A	G	7: 48,474,479 (GRCm39)	N577S	possibly damaging	Het
Zmym6	A	G	4: 127,017,767 (GRCm39)	N1183D	possibly damaging	Het

Other mutations in Ugt1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GTAGCTGTCAGTTCAATTGCTG -3'
(R):5'- TATGACCACAACTTCGTGCCC -3'

Sequencing Primer
(F):5'- TGCTGTTATTTGTTAAGGAACTCAG -3'
(R):5'- CTTCTGCTGGAGCTGCTGAATAAC -3'

Posted On

2016-06-15