Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03245:Ugt2a3'

414368

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 #

IGL03245

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	C	T	7: 75,259,500 (GRCm39)	A708V	probably damaging	Het
Cdh3	A	G	8: 107,279,631 (GRCm39)	N749S	probably damaging	Het
Col3a1	G	A	1: 45,370,269 (GRCm39)		probably benign	Het
Csmd2	T	A	4: 128,402,915 (GRCm39)	S2334R	probably benign	Het
Cubn	T	C	2: 13,360,500 (GRCm39)	T1741A	probably benign	Het
Cuedc1	T	C	11: 88,068,088 (GRCm39)		probably benign	Het
Cutc	T	C	19: 43,756,621 (GRCm39)	S228P	possibly damaging	Het
Dnmt1	G	T	9: 20,827,056 (GRCm39)	N1013K	probably damaging	Het
Dst	G	T	1: 34,250,229 (GRCm39)		probably null	Het
Lamc2	A	T	1: 153,009,503 (GRCm39)		probably null	Het
Mettl25	T	C	10: 105,662,358 (GRCm39)	N204S	possibly damaging	Het
Micall2	G	A	5: 139,705,014 (GRCm39)	H107Y	probably damaging	Het
Or5d16	T	A	2: 87,773,086 (GRCm39)	R295S	possibly damaging	Het
Or8g28	T	A	9: 39,169,294 (GRCm39)	I225F	probably damaging	Het
Or9a7	A	G	6: 40,521,076 (GRCm39)	V279A	probably damaging	Het
Ptger4	A	T	15: 5,264,588 (GRCm39)	I331N	probably damaging	Het
Rad54l2	A	G	9: 106,580,827 (GRCm39)	F898S	probably damaging	Het
Smr2	A	G	5: 88,256,709 (GRCm39)	N129S	probably benign	Het
Tmeff2	T	C	1: 51,220,976 (GRCm39)	F317S	probably benign	Het
Trpm6	A	T	19: 18,855,065 (GRCm39)	E1908V	probably damaging	Het
Xpo7	T	A	14: 70,925,734 (GRCm39)	D436V	probably damaging	Het
Zfp804b	C	A	5: 6,822,253 (GRCm39)	S234I	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
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
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