Mutagenetix > Incidental Mutation

Incidental Mutation 'R7743:Ugt1a5'

596632

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a5

Ensembl Gene

ENSMUSG00000089943

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A5

Synonyms

MMRRC Submission

045799-MU

Accession Numbers

Essential gene?

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

Stock #

R7743 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88093734-88146719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88094117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 115 (M115K)

Ref Sequence

ENSEMBL: ENSMUSP00000095263 (fasta)

Gene Model

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

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: M115K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000095263
Gene: ENSMUSG00000089943
AA Change: M115K

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

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: 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: 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: 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: 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: 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,516 (GRCm39)	E1235G	probably damaging	Het
Abtb3	A	T	10: 85,460,813 (GRCm39)	I569F	possibly damaging	Het
Adam6a	A	G	12: 113,508,152 (GRCm39)	D175G	probably benign	Het
Adgrf4	A	T	17: 42,983,453 (GRCm39)	C76*	probably null	Het
Agbl3	C	T	6: 34,823,765 (GRCm39)	T815I	probably damaging	Het
Ahnak2	A	G	12: 112,748,383 (GRCm39)	V488A	not run	Het
Akip1	T	A	7: 109,311,035 (GRCm39)	S192T	probably benign	Het
Apc2	G	A	10: 80,140,749 (GRCm39)	M201I	probably damaging	Het
Arel1	G	T	12: 84,987,043 (GRCm39)	N124K	probably damaging	Het
Atp10a	A	T	7: 58,453,457 (GRCm39)	H845L	probably damaging	Het
Atp2a2	A	G	5: 122,599,634 (GRCm39)	Y586H	probably benign	Het
BC051019	A	G	7: 109,315,266 (GRCm39)	Y330H	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Chek2	T	G	5: 110,987,916 (GRCm39)		probably null	Het
Cldn14	A	G	16: 93,716,615 (GRCm39)	L77S	probably damaging	Het
Cox15	T	C	19: 43,728,380 (GRCm39)	K298E	possibly damaging	Het
Cpt1b	G	T	15: 89,305,607 (GRCm39)	D369E	probably benign	Het
Cpxm1	T	C	2: 130,235,342 (GRCm39)	N550S	probably benign	Het
Csdc2	A	G	15: 81,833,399 (GRCm39)	E132G	possibly damaging	Het
Cyb5d2	A	T	11: 72,669,702 (GRCm39)	C219S	probably damaging	Het
Erbb4	T	C	1: 68,367,278 (GRCm39)	T480A	probably benign	Het
Fndc1	G	A	17: 7,983,969 (GRCm39)	T1319I	unknown	Het
Gm5773	T	G	3: 93,680,565 (GRCm39)	V79G	probably damaging	Het
Hsf2	G	A	10: 57,387,431 (GRCm39)		probably null	Het
Itgb2l	T	C	16: 96,238,608 (GRCm39)	T64A	probably damaging	Het
Kifc5b	T	C	17: 27,143,176 (GRCm39)	V316A	probably damaging	Het
Ktn1	A	G	14: 47,907,750 (GRCm39)	D279G	probably damaging	Het
Lonrf1	T	C	8: 36,716,206 (GRCm39)	E143G	possibly damaging	Het
Mroh9	C	T	1: 162,852,122 (GRCm39)	E856K	probably benign	Het
Muc16	T	C	9: 18,568,773 (GRCm39)	T1249A	unknown	Het
Myh6	G	A	14: 55,194,607 (GRCm39)	R721W	probably damaging	Het
Myo6	A	T	9: 80,183,611 (GRCm39)	I669F	unknown	Het
N4bp2	A	G	5: 65,965,802 (GRCm39)	T1284A	probably damaging	Het
Npr3	A	G	15: 11,905,724 (GRCm39)	M1T	probably null	Het
Obscn	C	T	11: 58,990,603 (GRCm39)	V1657M	probably damaging	Het
Olfr908	A	G	9: 38,427,624 (GRCm39)	T99A	possibly damaging	Het
Or52a20	A	G	7: 103,366,560 (GRCm39)	E253G	possibly damaging	Het
Or52p2	A	T	7: 102,237,638 (GRCm39)	F104Y	probably benign	Het
Otud6b	C	A	4: 14,818,389 (GRCm39)	A171S	possibly damaging	Het
Pdcd2l	A	C	7: 33,892,256 (GRCm39)	D204E	probably benign	Het
Pdia2	T	C	17: 26,417,842 (GRCm39)	S56G	probably benign	Het
Plcxd1	G	A	5: 110,250,369 (GRCm39)	E237K	possibly damaging	Het
Plekha5	A	T	6: 140,501,712 (GRCm39)	R633S	probably damaging	Het
Pnpla6	T	C	8: 3,586,594 (GRCm39)	F937L	possibly damaging	Het
Pth2	A	T	7: 44,830,733 (GRCm39)	M6L	probably benign	Het
Ptprd	T	A	4: 76,004,326 (GRCm39)	K143I	probably damaging	Het
Rhbdf2	T	C	11: 116,492,427 (GRCm39)	D487G	probably benign	Het
Rhbdf2	A	T	11: 116,494,775 (GRCm39)	D300E	probably benign	Het
Rock2	G	A	12: 17,026,048 (GRCm39)	V1265I	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGAGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rtn4	T	A	11: 29,683,790 (GRCm39)	Y1027*	probably null	Het
Rxfp3	A	G	15: 11,037,216 (GRCm39)	L52P	probably damaging	Het
Sel1l3	A	G	5: 53,293,227 (GRCm39)	Y830H	probably benign	Het
Serpinb3d	C	T	1: 107,007,088 (GRCm39)	V207I	probably damaging	Het
Sipa1l2	T	C	8: 126,190,972 (GRCm39)	E1006G	probably damaging	Het
Slc22a19	C	T	19: 7,661,201 (GRCm39)	M324I	possibly damaging	Het
Slc37a1	T	A	17: 31,535,159 (GRCm39)	F106I	probably damaging	Het
Snx14	A	T	9: 88,280,402 (GRCm39)	S518T	probably benign	Het
Sp2	T	C	11: 96,851,935 (GRCm39)	T330A	probably damaging	Het
Spata13	A	T	14: 60,993,698 (GRCm39)	H1050L	probably damaging	Het
Sptssa	A	C	12: 54,703,201 (GRCm39)	V23G	possibly damaging	Het
Syt3	A	T	7: 44,042,091 (GRCm39)	I317F	probably damaging	Het
Tars1	A	C	15: 11,399,458 (GRCm39)		probably null	Het
Tead3	T	A	17: 28,551,801 (GRCm39)	T431S	probably benign	Het
Tiam2	G	A	17: 3,568,431 (GRCm39)	E1526K	possibly damaging	Het
Tnni3	G	A	7: 4,524,891 (GRCm39)	P12L	probably benign	Het
Topaz1	A	G	9: 122,614,201 (GRCm39)	H1207R	probably benign	Het
Trdn	G	T	10: 33,133,058 (GRCm39)	E107*	probably null	Het
Trp63	A	G	16: 25,701,375 (GRCm39)	N483S	probably benign	Het
Trpm4	A	G	7: 44,957,762 (GRCm39)	S1009P	probably benign	Het
Trpm6	T	C	19: 18,804,772 (GRCm39)	V908A	probably benign	Het
Tsen34	A	T	7: 3,697,601 (GRCm39)	M25L	possibly damaging	Het
Ttn	T	C	2: 76,781,827 (GRCm39)	E1073G	unknown	Het
Uaca	A	T	9: 60,783,677 (GRCm39)	I1380F	probably damaging	Het
Ubr3	A	G	2: 69,774,793 (GRCm39)	T539A	probably benign	Het
Unc45b	A	T	11: 82,813,726 (GRCm39)	I378F	probably damaging	Het
Unk	G	A	11: 115,940,262 (GRCm39)	R205Q	possibly damaging	Het
Ush2a	T	A	1: 188,542,376 (GRCm39)	L3314Q	probably benign	Het
Vezt	A	G	10: 93,816,286 (GRCm39)	L475P	probably damaging	Het
Vmn2r115	C	T	17: 23,564,772 (GRCm39)	Q220*	probably null	Het
Yap1	T	C	9: 7,962,379 (GRCm39)	Q223R	probably benign	Het
Zdhhc7	G	A	8: 120,813,467 (GRCm39)	T114M	possibly damaging	Het
Zwilch	A	C	9: 64,060,217 (GRCm39)	C374G	probably damaging	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
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
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'- TGTTGTGAGAGAGCTCCACG -3'
(R):5'- TCTATGCCACAGGGGATGTATCG -3'

Sequencing Primer
(F):5'- CCAAGGTCACCAGACTGTG -3'
(R):5'- CCACAGGGGATGTATCGTAGAAAG -3'

Posted On

2019-11-26