Mutagenetix > Incidental Mutation

Incidental Mutation 'R5485:Ugt1a2'

432499

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a2

Ensembl Gene

ENSMUSG00000090171

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A2

Synonyms

MMRRC Submission

043046-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R5485 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88128323-88146719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88128968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 204 (M204L)

Ref Sequence

ENSEMBL: ENSMUSP00000037258 (fasta)

Gene Model

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

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: M204L

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037258
Gene: ENSMUSG00000090171
AA Change: M204L

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: ENSMUST00000173165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124852

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

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: 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: 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: 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: 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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.6%

Validation Efficiency

98% (59/60)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,378 (GRCm39)	V85D	probably benign	Het
Abcb8	A	G	5: 24,605,159 (GRCm39)	N115S	probably benign	Het
Appl1	C	A	14: 26,684,823 (GRCm39)	L75F	probably damaging	Het
Atp13a5	A	G	16: 29,100,760 (GRCm39)		probably null	Het
Atp2c2	T	A	8: 120,479,801 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,864,979 (GRCm39)	I94F	probably damaging	Het
Clasp1	A	G	1: 118,395,643 (GRCm39)	I194V	possibly damaging	Het
Crebbp	A	C	16: 3,932,777 (GRCm39)	D1000E	probably benign	Het
Ctdnep1	C	T	11: 69,872,316 (GRCm39)	R3W	possibly damaging	Het
Dgkb	T	C	12: 38,177,363 (GRCm39)	V230A	probably damaging	Het
Duoxa2	T	C	2: 122,129,633 (GRCm39)	F38L	possibly damaging	Het
Ecd	T	C	14: 20,388,273 (GRCm39)	S172G	probably benign	Het
Endog	G	T	2: 30,061,663 (GRCm39)		probably benign	Het
Eqtn	G	A	4: 94,813,193 (GRCm39)	P131L	possibly damaging	Het
Gabbr1	T	A	17: 37,367,767 (GRCm39)	S290T	possibly damaging	Het
Glt8d2	T	A	10: 82,487,282 (GRCm39)	R319S	possibly damaging	Het
Gm16686	A	G	4: 88,673,641 (GRCm39)		probably benign	Het
Gm5709	A	T	3: 59,542,983 (GRCm39)		noncoding transcript	Het
Gm7381	T	C	8: 3,892,161 (GRCm39)		noncoding transcript	Het
Gorab	T	G	1: 163,213,871 (GRCm39)	D353A	possibly damaging	Het
Gstm1	A	G	3: 107,924,720 (GRCm39)	L20P	probably damaging	Het
Hexim2	A	G	11: 103,029,884 (GRCm39)	D312G	probably benign	Het
Hfm1	A	G	5: 106,995,528 (GRCm39)		probably null	Het
Mbd4	C	A	6: 115,827,679 (GRCm39)	A66S	probably benign	Het
Mmp27	T	A	9: 7,573,363 (GRCm39)	W152R	probably damaging	Het
Mogat1	A	G	1: 78,500,307 (GRCm39)	T124A	probably benign	Het
Mrps18b	A	T	17: 36,225,236 (GRCm39)	V102D	probably damaging	Het
Or10g3b	A	T	14: 52,586,776 (GRCm39)	C242*	probably null	Het
Peg10	T	A	6: 4,755,565 (GRCm39)	M47K	probably benign	Het
Plxnc1	T	G	10: 94,758,604 (GRCm39)	Q364P	probably benign	Het
Psd	A	T	19: 46,304,528 (GRCm39)		probably null	Het
Rims1	T	G	1: 22,522,289 (GRCm39)	I470L	possibly damaging	Het
Sbsn	T	C	7: 30,452,542 (GRCm39)	V519A	possibly damaging	Het
Senp1	A	G	15: 97,964,377 (GRCm39)	V279A	probably benign	Het
Sfxn5	T	A	6: 85,309,582 (GRCm39)		probably benign	Het
Slc6a13	T	A	6: 121,313,032 (GRCm39)	M483K	probably damaging	Het
Slc6a21	G	A	7: 44,931,966 (GRCm39)		probably null	Het
Slco6c1	T	C	1: 97,053,481 (GRCm39)	Y140C	probably damaging	Het
Spata32	A	G	11: 103,100,122 (GRCm39)	S128P	probably damaging	Het
Spty2d1	G	T	7: 46,647,633 (GRCm39)	T432K	possibly damaging	Het
Stx8	A	G	11: 67,911,792 (GRCm39)	Q170R	probably benign	Het
Sytl3	G	A	17: 6,982,879 (GRCm39)	V112I	probably benign	Het
Tdrkh	A	G	3: 94,336,019 (GRCm39)	I420V	probably benign	Het
Tmem117	T	C	15: 94,992,711 (GRCm39)	V457A	probably benign	Het
Tpk1	T	C	6: 43,642,746 (GRCm39)		probably benign	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Tsen54	A	G	11: 115,706,048 (GRCm39)	E90G	probably benign	Het
Vmn2r17	A	T	5: 109,567,972 (GRCm39)	I32F	probably benign	Het
Xkr6	T	C	14: 64,056,833 (GRCm39)	V248A	unknown	Het
Zfhx4	C	A	3: 5,308,067 (GRCm39)	S431Y	probably damaging	Het
Zfp318	T	A	17: 46,723,180 (GRCm39)	S1728T	possibly damaging	Het
Zfp563	T	C	17: 33,308,540 (GRCm39)		probably benign	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
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
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'- TTGCACAATAAGATGCTGATCC -3'
(R):5'- AGTCGAGTACAAAGTCCCCTC -3'

Sequencing Primer
(F):5'- TACTGGCCAAGTACCTAC -3'
(R):5'- GAGTACAAAGTCCCCTCGGAACAG -3'

Posted On

2016-10-05