Mutagenetix > Incidental Mutation

Incidental Mutation 'R5827:Ugt1a2'

450201

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a2

Ensembl Gene

ENSMUSG00000090171

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A2

Synonyms

MMRRC Submission

043218-MU

Accession Numbers

Essential gene?

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

Stock #

R5827 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88128323-88146719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88128787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 143 (S143R)

Ref Sequence

ENSEMBL: ENSMUSP00000037258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000049289] [ENSMUST00000058237] [ENSMUST00000073772] [ENSMUST00000097659] [ENSMUST00000113134] [ENSMUST00000113135] [ENSMUST00000173325] [ENSMUST00000138182] [ENSMUST00000150634] [ENSMUST00000140092] [ENSMUST00000126203] [ENSMUST00000113139] [ENSMUST00000113142] [ENSMUST00000113137] [ENSMUST00000113138] [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: S143R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037258
Gene: ENSMUSG00000090171
AA Change: S143R

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: 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: 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: 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: 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: 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: 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: 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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Agl	T	C	3: 116,574,703 (GRCm39)	I34V	probably damaging	Het
Cavin4	A	T	4: 48,672,074 (GRCm39)	D173V	probably damaging	Het
Chd9	A	G	8: 91,716,078 (GRCm39)	D884G	probably damaging	Het
Col6a5	G	A	9: 105,805,319 (GRCm39)	R1196*	probably null	Het
Disc1	T	C	8: 125,862,104 (GRCm39)	L492P	probably damaging	Het
Dscam	A	G	16: 96,451,191 (GRCm39)		probably null	Het
Fbxw4	T	C	19: 45,568,096 (GRCm39)	T26A	probably benign	Het
H1f6	A	G	13: 23,880,185 (GRCm39)	K113E	possibly damaging	Het
Klhl24	T	A	16: 19,938,871 (GRCm39)	Y475*	probably null	Het
Map4k3	C	T	17: 80,900,712 (GRCm39)		probably null	Het
Mfsd6	T	C	1: 52,701,551 (GRCm39)	E633G	probably damaging	Het
Mycn	G	A	12: 12,989,794 (GRCm39)	R201*	probably null	Het
Nek11	T	C	9: 105,191,944 (GRCm39)	I155M	probably damaging	Het
Notch2	G	A	3: 97,980,178 (GRCm39)	V231I	possibly damaging	Het
Npnt	A	C	3: 132,612,536 (GRCm39)	V187G	possibly damaging	Het
Nr1d2	C	A	14: 18,222,248 (GRCm38)	V8L	possibly damaging	Het
Nup188	C	T	2: 30,229,859 (GRCm39)	T1359I	probably damaging	Het
Or2m12	T	A	16: 19,105,182 (GRCm39)	I104L	probably benign	Het
Or4k35	A	T	2: 111,100,266 (GRCm39)	W149R	probably damaging	Het
Or5m11b	C	A	2: 85,805,650 (GRCm39)	P21Q	probably benign	Het
Or8g36	T	A	9: 39,422,354 (GRCm39)	I221F	probably damaging	Het
P2rx2	C	T	5: 110,488,195 (GRCm39)	R453Q	probably benign	Het
Pcdhb7	A	G	18: 37,475,077 (GRCm39)	E71G	probably benign	Het
Pcdhb9	A	T	18: 37,535,011 (GRCm39)	D335V	possibly damaging	Het
Pcsk9	C	T	4: 106,306,144 (GRCm39)	G368R	probably damaging	Het
Ptgr2	G	A	12: 84,342,110 (GRCm39)		probably null	Het
Rhebl1	T	A	15: 98,776,151 (GRCm39)	I168F	probably damaging	Het
Serpina3b	A	G	12: 104,097,036 (GRCm39)	T106A	probably benign	Het
Sh3pxd2b	A	G	11: 32,372,422 (GRCm39)	I530V	probably benign	Het
Skint10	T	C	4: 112,603,972 (GRCm39)	T72A	probably benign	Het
Slx4	G	T	16: 3,819,148 (GRCm39)	F8L	possibly damaging	Het
Tdp2	T	C	13: 25,015,836 (GRCm39)	L41P	probably damaging	Het
Tiam2	A	G	17: 3,498,764 (GRCm39)	I847V	probably benign	Het
Tmem200c	A	G	17: 69,149,004 (GRCm39)	E529G	probably benign	Het
Tnpo1	T	C	13: 98,993,416 (GRCm39)	D590G	probably damaging	Het
Ube3d	T	C	9: 86,254,489 (GRCm39)	T331A	possibly damaging	Het
Zfp58	A	T	13: 67,639,412 (GRCm39)	C360S	probably 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
R5603:Ugt1a2	UTSW	1	88,129,148 (GRCm39)	missense	probably damaging	1.00
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'- TGCCTTTCCATATACCAAGGAAG -3'
(R):5'- TGTTCTGGACCCTTTGCAGG -3'

Sequencing Primer
(F):5'- TCCATATACCAAGGAAGAATATCAGC -3'
(R):5'- CCATGTGGTCAGAAAGCCTTG -3'

Posted On

2016-12-20