Mutagenetix > Incidental Mutation

Incidental Mutation 'R1121:Ugt2a3'

95616

Institutional Source

Beutler Lab

Gene Symbol

Ugt2a3

Ensembl Gene

ENSMUSG00000035780

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide A3

Synonyms

2010321J07Rik

MMRRC Submission

039194-MU

Accession Numbers

Essential gene?

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

Stock #

R1121 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87472831-87485054 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87475548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 361 (D361E)

Ref Sequence

ENSEMBL: ENSMUSP00000031195 (fasta)

Gene Model

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

AlphaFold

Q8BWQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000031195
AA Change: D361E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: D361E

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

Meta Mutation Damage Score

0.5475

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l1	A	T	6: 90,566,366 (GRCm39)	I646L	probably benign	Het
Ankar	G	A	1: 72,690,822 (GRCm39)		probably null	Het
Ap3b2	T	A	7: 81,113,943 (GRCm39)	T815S	unknown	Het
Atosb	T	C	4: 43,034,947 (GRCm39)	K317E	probably damaging	Het
Cops7a	T	C	6: 124,939,379 (GRCm39)	D90G	probably benign	Het
Dpysl2	C	T	14: 67,100,001 (GRCm39)	M78I	probably benign	Het
Erc2	T	C	14: 28,197,612 (GRCm39)		probably benign	Het
Fam120a	A	T	13: 49,063,913 (GRCm39)		probably null	Het
Fam98a	C	A	17: 75,845,529 (GRCm39)	G406C	unknown	Het
G6pc3	G	A	11: 102,080,768 (GRCm39)	S6N	possibly damaging	Het
Grin2d	T	G	7: 45,503,771 (GRCm39)	M655L	probably damaging	Het
Hnrnpul1	G	T	7: 25,440,332 (GRCm39)	T308K	possibly damaging	Het
Ipp	T	A	4: 116,377,872 (GRCm39)	N247K	probably benign	Het
Islr	T	C	9: 58,065,045 (GRCm39)	N154S	probably benign	Het
Itk	A	G	11: 46,222,721 (GRCm39)	Y577H	possibly damaging	Het
Micu1	C	T	10: 59,624,804 (GRCm39)	T282I	possibly damaging	Het
Or6d14	T	G	6: 116,534,190 (GRCm39)	V268G	probably damaging	Het
Pcdhb14	T	A	18: 37,582,645 (GRCm39)	Y584N	probably damaging	Het
Pnlip	A	G	19: 58,669,340 (GRCm39)		probably null	Het
Ppip5k2	A	T	1: 97,684,585 (GRCm39)	Y129N	probably damaging	Het
Prtg	T	G	9: 72,813,449 (GRCm39)	H936Q	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Spef1l	T	A	7: 139,556,543 (GRCm39)	D148V	probably benign	Het
Sptbn5	T	A	2: 119,899,871 (GRCm39)		probably null	Het
Thnsl1	A	G	2: 21,216,975 (GRCm39)	D243G	probably benign	Het
Uhrf1	T	A	17: 56,619,917 (GRCm39)	M276K	probably benign	Het
Vmn1r26	T	C	6: 57,985,647 (GRCm39)	T181A	probably benign	Het
Vwa7	T	A	17: 35,236,770 (GRCm39)	N112K	probably damaging	Het
Xkr7	C	T	2: 152,896,343 (GRCm39)	T399I	probably damaging	Het
Zpld2	T	C	4: 133,930,248 (GRCm39)	D19G	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCTTTTGTGACCCAAAGCAAAACC -3'
(R):5'- AGAAGCTGTTTCAACAGGTGGGTATG -3'

Sequencing Primer
(F):5'- GTGACCCAAAGCAAAACCAAAAC -3'
(R):5'- TTTCAACAGGTGGGTATGAACAG -3'

Posted On

2014-01-05