Mutagenetix > Incidental Mutation

Incidental Mutation 'R4643:Ugt1a5'

351708

Institutional Source

Beutler Lab

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 #

R4643 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88093734-88146719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88094147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 125 (N125I)

Ref Sequence

ENSEMBL: ENSMUSP00000095263 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000097659
AA Change: N125I

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095263
Gene: ENSMUSG00000089943
AA Change: N125I

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: 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: 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: 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: 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: 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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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
4833420G17Rik	A	G	13: 119,611,396 (GRCm39)	N398D	probably damaging	Het
Adamtsl4	G	A	3: 95,591,929 (GRCm39)	A58V	possibly damaging	Het
Anapc2	T	A	2: 25,166,406 (GRCm39)	V105E	probably benign	Het
C3ar1	A	T	6: 122,827,933 (GRCm39)	C95S	probably damaging	Het
Ccdc87	G	A	19: 4,891,877 (GRCm39)	G790R	probably damaging	Het
Cenpf	A	T	1: 189,391,786 (GRCm39)	M682K	probably benign	Het
Cyp2j13	T	C	4: 95,945,161 (GRCm39)	Q289R	possibly damaging	Het
Dclk2	A	T	3: 86,713,487 (GRCm39)	M453K	possibly damaging	Het
Dscam	G	A	16: 96,486,501 (GRCm39)	T1058M	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,856,006 (GRCm39)	N659S	probably damaging	Het
Hectd4	A	G	5: 121,487,118 (GRCm39)	K3371R	possibly damaging	Het
Il1a	T	A	2: 129,146,623 (GRCm39)	T157S	probably benign	Het
Il23r	A	G	6: 67,400,977 (GRCm39)	V451A	probably benign	Het
Iqch	T	C	9: 63,502,084 (GRCm39)	T40A	probably benign	Het
Irag2	A	T	6: 145,113,786 (GRCm39)	D318V	probably benign	Het
Kazald1	G	T	19: 45,066,788 (GRCm39)	V196L	probably benign	Het
L1td1	T	C	4: 98,626,120 (GRCm39)	S772P	probably damaging	Het
Lgi1	A	T	19: 38,289,158 (GRCm39)	D145V	probably damaging	Het
Lrp12	A	T	15: 39,735,418 (GRCm39)	L838Q	probably damaging	Het
Mrgprf	C	A	7: 144,862,242 (GRCm39)	P268Q	probably benign	Het
Myef2	T	C	2: 124,958,731 (GRCm39)	K66R	possibly damaging	Het
Myo3b	A	G	2: 70,069,186 (GRCm39)	D475G	possibly damaging	Het
Numa1	C	G	7: 101,649,872 (GRCm39)		probably null	Het
Or6c214	T	C	10: 129,590,824 (GRCm39)	E165G	probably damaging	Het
Prdm8	T	C	5: 98,332,446 (GRCm39)	S116P	possibly damaging	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
R3hcc1l	G	T	19: 42,551,239 (GRCm39)	V79F	probably benign	Het
Rasal1	C	T	5: 120,817,029 (GRCm39)	T779I	probably benign	Het
Scaper	A	C	9: 55,745,463 (GRCm39)	F596V	probably damaging	Het
Slco2b1	C	T	7: 99,316,214 (GRCm39)	V439M	probably benign	Het
Slco6c1	A	T	1: 96,990,149 (GRCm39)	D680E	probably benign	Het
Smurf1	A	T	5: 144,816,179 (GRCm39)	F725L	probably damaging	Het
Snd1	A	G	6: 28,880,248 (GRCm39)	E674G	probably benign	Het
Srcap	C	T	7: 127,140,948 (GRCm39)	P1515L	probably damaging	Het
Sycp2l	A	G	13: 41,296,941 (GRCm39)	M341V	probably benign	Het
Tmprss6	T	A	15: 78,329,556 (GRCm39)	I492F	probably damaging	Het
Trip10	G	T	17: 57,568,658 (GRCm39)	E416*	probably null	Het
Tstd2	T	C	4: 46,129,297 (GRCm39)	D177G	possibly damaging	Het
Vmn2r7	G	T	3: 64,623,825 (GRCm39)	S165Y	probably damaging	Het
Zfp663	A	T	2: 165,194,925 (GRCm39)	H431Q	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
IGL02972:Ugt1a5	APN	1	88,094,144 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CAGAGGTGAACATGCGCATC -3'
(R):5'- GGAAAGCCTTGTGAATAGGTTC -3'

Sequencing Primer
(F):5'- GCGCATCAAAGAAGAGGACTTTTTC -3'
(R):5'- AAGGGCTTGGACACTGTG -3'

Posted On

2015-10-08