Mutagenetix > Incidental Mutation

Incidental Mutation 'R5603:Ugt1a2'

439115

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a2

Ensembl Gene

ENSMUSG00000090171

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A2

Synonyms

MMRRC Submission

043155-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R5603 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88128323-88146719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88129148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 264 (Y264H)

Ref Sequence

ENSEMBL: ENSMUSP00000037258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000049289] [ENSMUST00000058237] [ENSMUST00000073772] [ENSMUST00000097659] [ENSMUST00000113134] [ENSMUST00000113135] [ENSMUST00000126203] [ENSMUST00000173325] [ENSMUST00000140092] [ENSMUST00000150634] [ENSMUST00000119972] [ENSMUST00000113137] [ENSMUST00000113138] [ENSMUST00000113142] [ENSMUST00000138182] [ENSMUST00000113139]

AlphaFold

P70691

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 damaging
Transcript: ENSMUST00000049289
AA Change: Y264H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037258
Gene: ENSMUSG00000090171
AA Change: Y264H

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: 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

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

noncoding transcript
Transcript: ENSMUST00000124852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173165

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: 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: 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: ENSMUST00000119972

SMART Domains

Protein: ENSMUSP00000112703
Gene: ENSMUSG00000081984

Domain	Start	End	E-Value	Type
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: 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

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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baiap2l1	A	G	5: 144,202,787 (GRCm39)	S509P	probably damaging	Het
Bud31	T	C	5: 145,081,769 (GRCm39)	I52T	possibly damaging	Het
Cacna1g	C	T	11: 94,330,578 (GRCm39)	S979N	possibly damaging	Het
Cacna2d4	T	A	6: 119,221,246 (GRCm39)	W253R	probably damaging	Het
Ccna1	A	G	3: 54,958,330 (GRCm39)	Y118H	probably damaging	Het
Cct8l1	A	G	5: 25,721,497 (GRCm39)	T71A	probably benign	Het
Chaf1b	A	G	16: 93,689,683 (GRCm39)	T19A	probably damaging	Het
Col6a2	A	T	10: 76,432,603 (GRCm39)	V850D	probably damaging	Het
Cpsf2	C	A	12: 101,964,890 (GRCm39)	Q513K	probably benign	Het
Dnah5	T	G	15: 28,420,078 (GRCm39)	V3792G	probably damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Exoc6b	T	C	6: 84,812,126 (GRCm39)	D625G	possibly damaging	Het
Gad1	C	A	2: 70,420,173 (GRCm39)	F352L	probably damaging	Het
Gm5422	T	A	10: 31,126,840 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,900,395 (GRCm39)	E162G	probably damaging	Het
Grm6	T	A	11: 50,747,786 (GRCm39)	F333I	probably damaging	Het
Heatr5a	A	G	12: 51,924,358 (GRCm39)	F1952L	probably benign	Het
Ighv1-42	C	T	12: 114,901,132 (GRCm39)		probably benign	Het
Itgb6	T	C	2: 60,450,706 (GRCm39)	T578A	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Mfsd14b	T	C	13: 65,221,420 (GRCm39)	K291E	probably benign	Het
Mllt6	T	C	11: 97,564,331 (GRCm39)	L379P	probably damaging	Het
Mtmr6	A	T	14: 60,522,450 (GRCm39)	K183*	probably null	Het
Mylk	A	G	16: 34,776,862 (GRCm39)	N1345S	probably benign	Het
Nab2	A	T	10: 127,500,990 (GRCm39)	M1K	probably null	Het
Ngly1	C	A	14: 16,260,762 (GRCm38)	Q149K	probably benign	Het
Npy6r	T	A	18: 44,409,652 (GRCm39)	S358T	probably damaging	Het
Pbld2	A	G	10: 62,907,228 (GRCm39)	T156A	probably benign	Het
Pik3cd	A	T	4: 149,743,312 (GRCm39)	C263S	probably benign	Het
Pramel21	T	A	4: 143,344,066 (GRCm39)	C455*	probably null	Het
Ptk2b	A	T	14: 66,409,514 (GRCm39)	Y507*	probably null	Het
Rbm25	C	T	12: 83,710,990 (GRCm39)	R368*	probably null	Het
Rnf207	T	C	4: 152,396,851 (GRCm39)	Y396C	probably damaging	Het
Skint2	T	A	4: 112,506,961 (GRCm39)	V328E	possibly damaging	Het
Slc3a2	A	G	19: 8,691,092 (GRCm39)	V7A	probably benign	Het
Spata18	G	A	5: 73,828,575 (GRCm39)	V265I	probably benign	Het
Tmem120b	T	A	5: 123,239,705 (GRCm39)	V108D	possibly damaging	Het

Other mutations in Ugt1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5827:Ugt1a2	UTSW	1	88,128,787 (GRCm39)	missense	probably damaging	0.99
R7070:Ugt1a2	UTSW	1	88,129,224 (GRCm39)	critical splice donor site	probably null
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'- CTGCAAAGGGTCCAGAACATG -3'
(R):5'- CCCAAAGTATGTCATGGTGAACAC -3'

Sequencing Primer
(F):5'- GGGTCCAGAACATGCTGTACTATC -3'
(R):5'- CTCTCAGGAAAGAAGAGATACCTTTG -3'

Posted On

2016-10-26