Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03260:Ugt2a3'

414777

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt2a3

Ensembl Gene

ENSMUSG00000035780

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide A3

Synonyms

2010321J07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL03260

Quality Score

Status

Chromosome

Chromosomal Location

87472831-87485054 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87484439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 195 (P195L)

Ref Sequence

ENSEMBL: ENSMUSP00000031195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031195]

AlphaFold

Q8BWQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000031195
AA Change: P195L

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

SMART Domains

Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: P195L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:UDPGT	24	526	1.2e-233	PFAM
Pfam:Glyco_tran_28_C	318	454	1.5e-10	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	A	G	10: 20,187,071 (GRCm39)		probably benign	Het
Abca12	A	G	1: 71,323,258 (GRCm39)	L1608P	probably damaging	Het
Akr1b8	G	T	6: 34,340,394 (GRCm39)		probably benign	Het
Appbp2	A	G	11: 85,107,283 (GRCm39)	V69A	probably benign	Het
Ces1e	T	C	8: 93,950,545 (GRCm39)	N79D	probably benign	Het
Cldn34b3	A	G	X: 75,310,479 (GRCm39)	T16A	probably damaging	Het
Frmd4b	A	T	6: 97,373,185 (GRCm39)	F103Y	probably damaging	Het
Ifi47	T	C	11: 48,986,932 (GRCm39)	F233S	probably damaging	Het
Igkv8-30	A	T	6: 70,094,339 (GRCm39)	M24K	probably damaging	Het
Krt72	C	T	15: 101,686,708 (GRCm39)	A413T	probably damaging	Het
Lingo4	A	G	3: 94,309,250 (GRCm39)	T63A	probably benign	Het
Naa35	T	G	13: 59,775,699 (GRCm39)	S125A	probably benign	Het
Or6c76	T	C	10: 129,612,521 (GRCm39)	V261A	probably damaging	Het
Or6z7	A	T	7: 6,483,658 (GRCm39)	C166S	probably damaging	Het
Padi1	T	C	4: 140,555,505 (GRCm39)	H240R	probably benign	Het
Ppp1r12a	A	G	10: 108,097,106 (GRCm39)	T240A	probably benign	Het
Ppp2ca	A	G	11: 52,003,975 (GRCm39)	N44S	probably damaging	Het
Prg4	T	A	1: 150,331,378 (GRCm39)		probably benign	Het
Rab33a	A	G	X: 47,608,545 (GRCm39)	E23G	probably benign	Het
Scarb2	G	T	5: 92,594,296 (GRCm39)	A422E	probably damaging	Het
Scn4b	A	T	9: 45,058,987 (GRCm39)	N86I	probably damaging	Het
Serpina1d	G	A	12: 103,730,108 (GRCm39)	T358I	probably damaging	Het
Slc12a3	T	A	8: 95,059,870 (GRCm39)	I172N	probably damaging	Het
Slc18a1	T	C	8: 69,527,766 (GRCm39)	E15G	probably benign	Het
Snx7	A	G	3: 117,575,942 (GRCm39)		probably benign	Het
Srpx	T	A	X: 9,921,987 (GRCm39)	K216*	probably null	Het
Unc13c	A	G	9: 73,838,626 (GRCm39)	S742P	probably benign	Het
Vmn2r104	C	T	17: 20,263,083 (GRCm39)	C126Y	probably benign	Het
Vmn2r63	A	T	7: 42,578,616 (GRCm39)	N92K	probably damaging	Het

Other mutations in Ugt2a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Ugt2a3	APN	5	87,473,514 (GRCm39)	missense	probably damaging	0.99
IGL00542:Ugt2a3	APN	5	87,484,682 (GRCm39)	missense	possibly damaging	0.61
IGL01335:Ugt2a3	APN	5	87,484,644 (GRCm39)	missense	probably damaging	1.00
IGL01369:Ugt2a3	APN	5	87,474,979 (GRCm39)	missense	probably damaging	1.00
IGL01808:Ugt2a3	APN	5	87,473,414 (GRCm39)	missense	probably benign	0.09
IGL02380:Ugt2a3	APN	5	87,484,658 (GRCm39)	missense	probably benign	0.09
IGL03245:Ugt2a3	APN	5	87,484,439 (GRCm39)	missense	probably damaging	1.00
IGL03261:Ugt2a3	APN	5	87,484,439 (GRCm39)	missense	probably damaging	1.00
IGL03280:Ugt2a3	APN	5	87,484,439 (GRCm39)	missense	probably damaging	1.00
IGL03302:Ugt2a3	APN	5	87,484,439 (GRCm39)	missense	probably damaging	1.00
D4186:Ugt2a3	UTSW	5	87,329,613 (GRCm38)	missense	probably damaging	1.00
R0051:Ugt2a3	UTSW	5	87,484,865 (GRCm39)	missense	probably damaging	1.00
R0103:Ugt2a3	UTSW	5	87,484,577 (GRCm39)	missense	possibly damaging	0.89
R0103:Ugt2a3	UTSW	5	87,484,577 (GRCm39)	missense	possibly damaging	0.89
R0324:Ugt2a3	UTSW	5	87,474,932 (GRCm39)	critical splice donor site	probably null
R0401:Ugt2a3	UTSW	5	87,484,349 (GRCm39)	missense	probably benign	0.03
R0506:Ugt2a3	UTSW	5	87,484,508 (GRCm39)	missense	possibly damaging	0.78
R0903:Ugt2a3	UTSW	5	87,475,570 (GRCm39)	missense	probably benign	0.00
R0940:Ugt2a3	UTSW	5	87,475,065 (GRCm39)	missense	possibly damaging	0.95
R1121:Ugt2a3	UTSW	5	87,475,548 (GRCm39)	missense	probably damaging	0.99
R1296:Ugt2a3	UTSW	5	87,475,005 (GRCm39)	missense	probably damaging	0.96
R1527:Ugt2a3	UTSW	5	87,473,457 (GRCm39)	missense	probably damaging	1.00
R2104:Ugt2a3	UTSW	5	87,477,541 (GRCm39)	splice site	probably null
R2119:Ugt2a3	UTSW	5	87,484,430 (GRCm39)	missense	probably damaging	0.98
R2374:Ugt2a3	UTSW	5	87,475,050 (GRCm39)	missense	probably damaging	1.00
R3082:Ugt2a3	UTSW	5	87,473,534 (GRCm39)	missense	probably benign	0.05
R3853:Ugt2a3	UTSW	5	87,485,018 (GRCm39)	missense
R3894:Ugt2a3	UTSW	5	87,477,449 (GRCm39)	missense	probably benign	0.09
R4063:Ugt2a3	UTSW	5	87,484,725 (GRCm39)	missense	probably benign	0.04
R4274:Ugt2a3	UTSW	5	87,475,548 (GRCm39)	missense	probably damaging	0.99
R4739:Ugt2a3	UTSW	5	87,475,054 (GRCm39)	missense	probably damaging	0.97
R4879:Ugt2a3	UTSW	5	87,479,144 (GRCm39)	missense	probably benign	0.06
R5327:Ugt2a3	UTSW	5	87,479,174 (GRCm39)	missense	probably damaging	1.00
R5508:Ugt2a3	UTSW	5	87,475,059 (GRCm39)	missense	probably damaging	0.98
R5866:Ugt2a3	UTSW	5	87,484,406 (GRCm39)	missense	probably damaging	1.00
R6026:Ugt2a3	UTSW	5	87,484,336 (GRCm39)	missense	probably benign	0.00
R6268:Ugt2a3	UTSW	5	87,477,472 (GRCm39)	missense	probably damaging	1.00
R6807:Ugt2a3	UTSW	5	87,484,617 (GRCm39)	missense	probably benign	0.00
R6980:Ugt2a3	UTSW	5	87,473,491 (GRCm39)	missense	probably damaging	1.00
R7056:Ugt2a3	UTSW	5	87,484,953 (GRCm39)	missense	probably damaging	0.98
R7133:Ugt2a3	UTSW	5	87,473,393 (GRCm39)	missense	possibly damaging	0.61
R7477:Ugt2a3	UTSW	5	87,484,479 (GRCm39)	missense	possibly damaging	0.90
R7485:Ugt2a3	UTSW	5	87,475,539 (GRCm39)	critical splice donor site	probably null
R7798:Ugt2a3	UTSW	5	87,475,582 (GRCm39)	missense	probably damaging	1.00
R7957:Ugt2a3	UTSW	5	87,475,050 (GRCm39)	missense	probably damaging	1.00
R8803:Ugt2a3	UTSW	5	87,484,389 (GRCm39)	missense	probably damaging	0.98
R8886:Ugt2a3	UTSW	5	87,484,358 (GRCm39)	missense	probably damaging	1.00
R8944:Ugt2a3	UTSW	5	87,473,417 (GRCm39)	missense	possibly damaging	0.81
R9387:Ugt2a3	UTSW	5	87,484,832 (GRCm39)	missense	probably benign	0.38
R9447:Ugt2a3	UTSW	5	87,473,330 (GRCm39)	missense	probably benign	0.39
R9524:Ugt2a3	UTSW	5	87,485,018 (GRCm39)	missense

Posted On

2016-08-02