Mutagenetix > Incidental Mutation

Incidental Mutation 'R2511:Ugt1a2'

252831

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a2

Ensembl Gene

ENSMUSG00000090171

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A2

Synonyms

MMRRC Submission

040417-MU

Accession Numbers

Essential gene?

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

Stock #

R2511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88128323-88146719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88128846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 163 (Y163C)

Ref Sequence

ENSEMBL: ENSMUSP00000037258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000049289] [ENSMUST00000058237] [ENSMUST00000073772] [ENSMUST00000097659] [ENSMUST00000113134] [ENSMUST00000113135] [ENSMUST00000113137] [ENSMUST00000126203] [ENSMUST00000113142] [ENSMUST00000113138] [ENSMUST00000173325] [ENSMUST00000140092] [ENSMUST00000150634] [ENSMUST00000138182] [ENSMUST00000113139] [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: Y163C

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

SMART Domains

Protein: ENSMUSP00000037258
Gene: ENSMUSG00000090171
AA Change: Y163C

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: 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: 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: 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: 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: 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

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,097,902 (GRCm39)	C100S	probably damaging	Het
Abcc8	C	T	7: 45,800,204 (GRCm39)	R526H	probably damaging	Het
Acad10	G	A	5: 121,769,630 (GRCm39)	P609S	probably benign	Het
Acod1	A	T	14: 103,288,775 (GRCm39)	D95V	probably damaging	Het
Acsm5	A	T	7: 119,129,677 (GRCm39)	I130F	possibly damaging	Het
Ago4	A	T	4: 126,410,864 (GRCm39)	D208E	probably damaging	Het
Agrn	A	T	4: 156,250,881 (GRCm39)		probably null	Het
Ankar	A	T	1: 72,697,853 (GRCm39)	I791K	probably damaging	Het
Ano10	A	G	9: 122,088,011 (GRCm39)	V364A	probably damaging	Het
Arhgap9	T	C	10: 127,164,854 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,666 (GRCm39)	C183Y	probably damaging	Het
Ascl2	T	G	7: 142,521,953 (GRCm39)	E97A	probably damaging	Het
Bcl2a1a	C	T	9: 88,839,506 (GRCm39)	R135W	probably damaging	Het
Bms1	C	T	6: 118,368,114 (GRCm39)		probably null	Het
Bysl	T	A	17: 47,915,260 (GRCm39)	T163S	probably benign	Het
Card10	A	G	15: 78,664,473 (GRCm39)	I821T	probably benign	Het
Cc2d2a	A	T	5: 43,892,737 (GRCm39)	Q1433L	probably damaging	Het
Cchcr1	T	C	17: 35,841,410 (GRCm39)	S809P	probably benign	Het
Ccz1	G	T	5: 143,949,815 (GRCm39)	T70K	probably damaging	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Cep164	A	T	9: 45,686,547 (GRCm39)	L729Q	probably damaging	Het
Clcn6	A	G	4: 148,101,951 (GRCm39)		probably null	Het
Clcn7	T	A	17: 25,374,420 (GRCm39)	V507E	probably damaging	Het
Cracdl	T	C	1: 37,664,381 (GRCm39)	M506V	probably benign	Het
Ctso	A	C	3: 81,840,041 (GRCm39)	T24P	probably damaging	Het
Dis3l2	A	T	1: 86,917,980 (GRCm39)	N543I	probably benign	Het
Dnah12	A	T	14: 26,491,907 (GRCm39)	Y1114F	possibly damaging	Het
Emx1	A	G	6: 85,181,033 (GRCm39)	D250G	probably benign	Het
Epha4	G	A	1: 77,488,339 (GRCm39)	A47V	possibly damaging	Het
Fam149b	A	C	14: 20,428,524 (GRCm39)	N341T	probably damaging	Het
Fsip2	A	G	2: 82,782,001 (GRCm39)	K62R	probably damaging	Het
Fsip2	T	C	2: 82,816,782 (GRCm39)	S4172P	probably benign	Het
Gbp3	A	G	3: 142,276,343 (GRCm39)	R480G	probably benign	Het
Get3	A	G	8: 85,746,395 (GRCm39)	V151A	possibly damaging	Het
Gja8	T	G	3: 96,827,033 (GRCm39)	T210P	probably damaging	Het
Gm5431	T	A	11: 48,779,536 (GRCm39)	N740I	probably benign	Het
Gm9930	T	C	10: 9,410,446 (GRCm39)		noncoding transcript	Het
Gstt4	C	T	10: 75,650,959 (GRCm39)	C221Y	probably benign	Het
Gzmg	A	T	14: 56,395,832 (GRCm39)	D42E	probably benign	Het
Hoxd12	G	A	2: 74,505,815 (GRCm39)	A129T	possibly damaging	Het
Hs2st1	G	A	3: 144,275,691 (GRCm39)		probably benign	Het
Ifnlr1	G	T	4: 135,432,559 (GRCm39)	D332Y	probably damaging	Het
Igsf10	T	C	3: 59,239,287 (GRCm39)	D298G	probably damaging	Het
Irf1	T	C	11: 53,664,617 (GRCm39)	V108A	probably damaging	Het
Jsrp1	C	G	10: 80,648,140 (GRCm39)	S36T	probably benign	Het
Kcnq5	T	A	1: 21,576,006 (GRCm39)	R233*	probably null	Het
Kif7	T	C	7: 79,352,012 (GRCm39)	K917E	probably damaging	Het
Krt7	A	C	15: 101,310,538 (GRCm39)	I62L	probably benign	Het
Lifr	A	G	15: 7,196,397 (GRCm39)	T194A	probably benign	Het
Ltbp2	T	C	12: 84,851,183 (GRCm39)		probably null	Het
Maco1	A	G	4: 134,531,699 (GRCm39)	S657P	probably damaging	Het
Man2c1	A	G	9: 57,048,672 (GRCm39)		probably null	Het
Met	T	C	6: 17,491,966 (GRCm39)	S243P	probably damaging	Het
Mllt10	C	A	2: 18,069,935 (GRCm39)	D30E	possibly damaging	Het
Mre11a	A	C	9: 14,707,065 (GRCm39)		probably null	Het
Mroh9	A	G	1: 162,866,514 (GRCm39)	S710P	probably benign	Het
Mvk	C	A	5: 114,588,459 (GRCm39)	Y116*	probably null	Het
Myh1	A	G	11: 67,096,423 (GRCm39)	I301V	probably benign	Het
Ncf1	T	C	5: 134,254,552 (GRCm39)	D184G	probably damaging	Het
Nxpe4	T	C	9: 48,304,533 (GRCm39)	F207L	probably damaging	Het
Or2ag18	G	T	7: 106,405,168 (GRCm39)	P167H	probably damaging	Het
Or2y1b	T	G	11: 49,209,048 (GRCm39)	L225R	probably damaging	Het
Or4k51	T	A	2: 111,584,661 (GRCm39)	N22K	probably benign	Het
Or52b1	A	T	7: 104,978,817 (GRCm39)	I194N	probably damaging	Het
Or5b24	T	A	19: 12,912,537 (GRCm39)	M145K	possibly damaging	Het
Or5w14	T	C	2: 87,541,392 (GRCm39)	N286S	probably damaging	Het
Pcdh1	G	A	18: 38,332,532 (GRCm39)	T296M	possibly damaging	Het
Pcdh15	A	G	10: 74,481,828 (GRCm39)	D391G	possibly damaging	Het
Pcdha7	C	A	18: 37,107,786 (GRCm39)	D270E	probably damaging	Het
Pgam1	C	A	19: 41,904,315 (GRCm39)	S137R	probably damaging	Het
Pitpnm2	T	C	5: 124,274,389 (GRCm39)	E240G	probably damaging	Het
Plce1	T	G	19: 38,748,498 (GRCm39)	I1729S	probably damaging	Het
Plppr4	G	T	3: 117,125,355 (GRCm39)	N161K	probably damaging	Het
Pramel27	G	A	4: 143,578,561 (GRCm39)	V274I	probably benign	Het
Prkce	T	A	17: 86,932,754 (GRCm39)	I578N	probably damaging	Het
Prss58	A	C	6: 40,874,734 (GRCm39)	S36A	probably damaging	Het
Ptprm	T	C	17: 67,000,773 (GRCm39)	H1128R	probably damaging	Het
Rgs9	T	C	11: 109,159,798 (GRCm39)	Y178C	probably benign	Het
Rubcn	T	C	16: 32,667,624 (GRCm39)	N179S	probably damaging	Het
Sh3bp1	C	T	15: 78,795,706 (GRCm39)	P612S	probably damaging	Het
Sh3bp5	G	A	14: 31,133,586 (GRCm39)	T82M	probably damaging	Het
Shank2	A	G	7: 143,965,314 (GRCm39)	Y974C	probably damaging	Het
Slc9c1	T	C	16: 45,365,099 (GRCm39)	I144T	possibly damaging	Het
Slf2	T	C	19: 44,930,045 (GRCm39)	I374T	possibly damaging	Het
Snx13	A	G	12: 35,188,080 (GRCm39)	D786G	probably benign	Het
Spcs3	A	G	8: 54,976,389 (GRCm39)	V151A	possibly damaging	Het
Sstr2	A	T	11: 113,515,749 (GRCm39)	I223F	probably damaging	Het
Stac3	T	C	10: 127,339,787 (GRCm39)		probably null	Het
Tas1r2	A	G	4: 139,387,162 (GRCm39)	N207S	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tgm5	T	C	2: 120,907,429 (GRCm39)	E98G	possibly damaging	Het
Tktl2	A	G	8: 66,965,504 (GRCm39)	E354G	probably benign	Het
Tmem94	G	A	11: 115,682,787 (GRCm39)	R608H	probably damaging	Het
Tnrc6a	G	A	7: 122,770,315 (GRCm39)	V702I	probably damaging	Het
Trappc10	A	G	10: 78,047,357 (GRCm39)	S380P	possibly damaging	Het
Trim24	G	A	6: 37,880,587 (GRCm39)		probably null	Het
Vmn1r215	A	G	13: 23,260,343 (GRCm39)	I128V	probably benign	Het
Vmn2r50	T	A	7: 9,781,640 (GRCm39)	E368D	possibly damaging	Het
Vmn2r59	T	C	7: 41,693,190 (GRCm39)	N470S	probably damaging	Het
Vps45	T	C	3: 95,948,757 (GRCm39)	T333A	probably benign	Het
Zbtb44	T	A	9: 30,965,539 (GRCm39)	D316E	probably damaging	Het
Zdhhc1	C	T	8: 106,210,190 (GRCm39)	V76M	probably benign	Het
Zfp235	T	C	7: 23,841,549 (GRCm39)	F656S	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
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
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'- ATACTGAGCGACATTGAGAAGACC -3'
(R):5'- AACGGCAAATGTACTTCAGGACC -3'

Sequencing Primer
(F):5'- GCGACATTGAGAAGACCTTTAAAAC -3'
(R):5'- CCAGATAGTACAGCATGTTCTGG -3'

Posted On

2014-12-04