Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03261:Ugt2a3'

414806

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: 0.106) question?

Stock #

IGL03261

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	G	7: 27,279,863 (GRCm39)	Y281*	probably null	Het
Adamts3	T	C	5: 90,030,756 (GRCm39)		probably benign	Het
Afp	T	C	5: 90,639,610 (GRCm39)		probably null	Het
Ap1g2	T	C	14: 55,337,987 (GRCm39)	T634A	probably benign	Het
Cidec	A	G	6: 113,410,133 (GRCm39)	V32A	probably benign	Het
Dip2a	G	A	10: 76,140,982 (GRCm39)	P315S	possibly damaging	Het
Hoxc11	T	C	15: 102,863,178 (GRCm39)	V73A	probably benign	Het
Jmjd1c	A	G	10: 67,067,849 (GRCm39)	Y1784C	probably damaging	Het
Mmp21	A	G	7: 133,276,403 (GRCm39)	V480A	probably benign	Het
Nek4	C	T	14: 30,697,247 (GRCm39)	T471I	probably benign	Het
Nr4a2	A	G	2: 57,000,199 (GRCm39)	V299A	probably benign	Het
Or14j8	A	T	17: 38,263,697 (GRCm39)	S73T	possibly damaging	Het
Or6c5	A	G	10: 129,074,272 (GRCm39)	T85A	possibly damaging	Het
Ptprg	A	G	14: 12,225,552 (GRCm38)	D505G	probably damaging	Het
Rag2	A	G	2: 101,460,608 (GRCm39)	D306G	probably damaging	Het
Rpap2	T	A	5: 107,746,426 (GRCm39)	S38T	possibly damaging	Het
Scart2	A	G	7: 139,874,746 (GRCm39)	H408R	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Slx4ip	A	T	2: 136,888,659 (GRCm39)	R113S	probably benign	Het
Smyd5	T	A	6: 85,409,000 (GRCm39)	M5K	probably benign	Het
Stkld1	A	T	2: 26,842,789 (GRCm39)	H587L	probably benign	Het
Taf4b	A	G	18: 14,954,585 (GRCm39)	T554A	probably benign	Het
Tex16	C	A	X: 111,028,552 (GRCm39)	D350E	possibly damaging	Het
Tex38	T	C	4: 115,637,723 (GRCm39)	K27E	possibly damaging	Het
Trdv4	T	C	14: 54,312,875 (GRCm39)	L83P	possibly damaging	Het
Vmn1r120	A	G	7: 20,787,450 (GRCm39)	L87P	probably damaging	Het
Zfp236	T	C	18: 82,648,733 (GRCm39)	D916G	possibly 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
IGL03260: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