Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02972:Ugt1a5'

365872

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt1a5

Ensembl Gene

ENSMUSG00000089943

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A5

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02972

Quality Score

Status

Chromosome

Chromosomal Location

88093734-88146719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88094144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 124 (T124I)

Ref Sequence

ENSEMBL: ENSMUSP00000095263 (fasta)

Gene Model

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

AlphaFold

B2RT14

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: 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
AA Change: T124I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095263
Gene: ENSMUSG00000089943
AA Change: T124I

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

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

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: 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: 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: 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: 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

Coding Region Coverage

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. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	A	17: 37,289,412 (GRCm39)	I105F	possibly damaging	Het
Bmpr1b	C	T	3: 141,576,519 (GRCm39)	D105N	probably benign	Het
Ces2e	A	T	8: 105,653,693 (GRCm39)	S44C	probably damaging	Het
Chd7	T	A	4: 8,855,174 (GRCm39)	N2134K	probably benign	Het
Chst15	T	C	7: 131,870,902 (GRCm39)	D211G	probably damaging	Het
Dpp4	T	C	2: 62,182,569 (GRCm39)	S571G	probably damaging	Het
Gna11	T	C	10: 81,369,225 (GRCm39)	I113V	probably benign	Het
Grm3	T	C	5: 9,562,410 (GRCm39)	Y480C	probably damaging	Het
Mccc1	C	T	3: 36,039,238 (GRCm39)	V252I	possibly damaging	Het
Nol12	A	G	15: 78,824,799 (GRCm39)	T209A	probably damaging	Het
Or2y14	G	A	11: 49,404,918 (GRCm39)	G151D	probably damaging	Het
Or52a33	A	G	7: 103,289,101 (GRCm39)	M82T	probably damaging	Het
Or7e168	T	C	9: 19,720,238 (GRCm39)	F208S	probably damaging	Het
P3h1	C	A	4: 119,105,157 (GRCm39)	Q712K	possibly damaging	Het
Per2	T	A	1: 91,351,703 (GRCm39)	E934D	possibly damaging	Het
Pfkl	T	C	10: 77,824,108 (GRCm39)	D760G	probably benign	Het
Piezo2	C	A	18: 63,197,856 (GRCm39)		probably benign	Het
Pkd1l1	C	T	11: 8,813,908 (GRCm39)	R1481Q	probably damaging	Het
Plpp3	T	C	4: 105,065,989 (GRCm39)	V189A	possibly damaging	Het
Pnpla1	A	G	17: 29,105,921 (GRCm39)	E592G	probably null	Het
Prdm2	A	T	4: 142,858,736 (GRCm39)	M1518K	probably benign	Het
Rhbdl3	G	A	11: 80,222,742 (GRCm39)		probably benign	Het
Rnf145	C	T	11: 44,454,865 (GRCm39)	S582F	probably benign	Het
Rsf1	A	G	7: 97,310,533 (GRCm39)	D421G	probably benign	Het
Serac1	A	C	17: 6,121,039 (GRCm39)	L85*	probably null	Het
Slc43a1	T	G	2: 84,690,462 (GRCm39)	V460G	probably damaging	Het
Slc7a6	G	A	8: 106,906,059 (GRCm39)	C97Y	probably damaging	Het
Slco5a1	A	T	1: 13,060,379 (GRCm39)	L114*	probably null	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Taok1	A	G	11: 77,450,584 (GRCm39)	V396A	probably benign	Het
Tmem232	T	A	17: 65,783,668 (GRCm39)	H233L	probably benign	Het
Tmprss11c	C	T	5: 86,385,692 (GRCm39)	S247N	possibly damaging	Het
Tnc	C	T	4: 63,894,715 (GRCm39)	S1557N	probably benign	Het
Txlng	A	G	X: 161,590,551 (GRCm39)	M94T	probably damaging	Het
Ube2b	A	T	11: 51,879,509 (GRCm39)	I87K	probably damaging	Het
Ubr5	A	T	15: 38,042,196 (GRCm39)	S133R	probably damaging	Het
Vamp1	G	T	6: 125,196,610 (GRCm39)	R117L	probably benign	Het
Vmn1r87	G	T	7: 12,866,256 (GRCm39)	Y10*	probably null	Het
Zan	G	A	5: 137,461,948 (GRCm39)	T1077I	unknown	Het
Zc2hc1b	C	A	10: 13,047,025 (GRCm39)	V29F	probably damaging	Het
Zfp597	T	C	16: 3,684,387 (GRCm39)	D123G	probably benign	Het

Other mutations in Ugt1a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Ugt1a5	APN	1	88,094,162 (GRCm39)	missense	probably benign	0.00
IGL01918:Ugt1a5	APN	1	88,094,267 (GRCm39)	missense	probably damaging	1.00
IGL03293:Ugt1a5	APN	1	88,094,540 (GRCm39)	missense	probably damaging	1.00
IGL03294:Ugt1a5	APN	1	88,094,537 (GRCm39)	missense	probably damaging	1.00
R1635:Ugt1a5	UTSW	1	88,093,805 (GRCm39)	intron	probably benign
R4643:Ugt1a5	UTSW	1	88,094,147 (GRCm39)	missense	possibly damaging	0.54
R5016:Ugt1a5	UTSW	1	88,093,963 (GRCm39)	missense	probably benign	0.00
R5026:Ugt1a5	UTSW	1	88,093,963 (GRCm39)	missense	probably benign	0.00
R5561:Ugt1a5	UTSW	1	88,094,039 (GRCm39)	missense	probably benign
R6221:Ugt1a5	UTSW	1	88,093,964 (GRCm39)	missense	probably benign
R7051:Ugt1a5	UTSW	1	88,094,077 (GRCm39)	missense	probably benign
R7278:Ugt1a5	UTSW	1	88,094,608 (GRCm39)	nonsense	probably null
R7440:Ugt1a5	UTSW	1	88,094,281 (GRCm39)	missense	probably benign	0.00
R7743:Ugt1a5	UTSW	1	88,094,117 (GRCm39)	missense	probably benign	0.05
R8093:Ugt1a5	UTSW	1	88,094,304 (GRCm39)	nonsense	probably null
R8704:Ugt1a5	UTSW	1	88,094,087 (GRCm39)	missense	probably benign	0.21
R9640:Ugt1a5	UTSW	1	88,094,098 (GRCm39)	missense	possibly damaging	0.70
X0009:Ugt1a5	UTSW	1	88,093,820 (GRCm39)	intron	probably benign

Posted On

2015-12-18