Mutagenetix > Incidental Mutations

Incidental Mutation 'R3894:Ugt2a3'

310442

Institutional Source

Beutler Lab

Gene Symbol

Ugt2a3

Ensembl Gene

ENSMUSG00000035780

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide A3

Synonyms

2010321J07Rik

Accession Numbers

Genbank: NM_028094; MGI: 1919344

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R3894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87324972-87337195 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87329590 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 317 (T317A)

Ref Sequence

ENSEMBL: ENSMUSP00000031195 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031195
AA Change: T317A

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: T317A

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1s1	A	G	7: 44,853,939	D180G	probably damaging	Het
Aldh1a7	A	T	19: 20,696,398	Y457*	probably null	Het
Alpk3	C	T	7: 81,078,390	P423S	possibly damaging	Het
Aox2	A	T	1: 58,334,678		probably null	Het
Crebbp	T	C	16: 4,096,102	T1316A	probably benign	Het
Cul3	C	A	1: 80,283,690	V273F	probably damaging	Het
Dnah1	G	T	14: 31,307,028	R582S	probably benign	Het
Fbxl2	T	C	9: 114,003,193	N51S	probably damaging	Het
Gapvd1	T	C	2: 34,728,476	D295G	probably benign	Het
Gdf7	A	G	12: 8,298,845	S151P	unknown	Het
Gm10277	T	C	11: 77,786,001		probably benign	Het
Hdac4	T	C	1: 91,970,968	E688G	possibly damaging	Het
Htr1d	A	G	4: 136,443,237	E259G	probably benign	Het
Ifi204	T	C	1: 173,749,208	H609R	possibly damaging	Het
Ift80	T	C	3: 68,917,999	D541G	probably damaging	Het
Il18r1	A	T	1: 40,474,874	H80L	possibly damaging	Het
Lrp4	G	A	2: 91,473,949	G158S	probably damaging	Het
Mesd	T	A	7: 83,897,785	L152H	probably damaging	Het
Morf4l1	A	T	9: 90,094,448	F276I	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mut	G	A	17: 40,955,139	C531Y	probably damaging	Het
Myo15	A	G	11: 60,504,319	T2480A	probably benign	Het
Olfr1284	C	A	2: 111,379,637	F212L	probably benign	Het
Olfr1317	T	C	2: 112,142,014	I23T	probably benign	Het
Olfr1387	G	A	11: 49,459,939	G87R	possibly damaging	Het
Olfr180	A	G	16: 58,916,339	F101L	probably benign	Het
Olfr437	A	T	6: 43,167,258	I67F	probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Ovgp1	A	G	3: 105,986,596		probably benign	Het
Pcbp4	A	T	9: 106,461,371	Q59L	possibly damaging	Het
Prg4	G	C	1: 150,454,759		probably benign	Het
Rad50	T	A	11: 53,678,870	I905L	probably benign	Het
Rp1l1	T	C	14: 64,029,307	S781P	probably benign	Het
Rps3	C	T	7: 99,479,896	R173H	probably benign	Het
Rtn3	T	A	19: 7,435,085	T86S	probably damaging	Het
Sdha	A	T	13: 74,334,391	S268T	probably benign	Het
Sgo2b	A	T	8: 63,928,733	V355E	possibly damaging	Het
Sh3glb2	T	C	2: 30,355,288	T60A	probably damaging	Het
Slc26a3	A	C	12: 31,464,720	Y513S	probably damaging	Het
Slc35b2	T	C	17: 45,566,442	V165A	probably benign	Het
Slco3a1	A	G	7: 74,284,613	W604R	probably damaging	Het
Tet2	A	G	3: 133,469,477	S1370P	possibly damaging	Het
Tmtc4	A	T	14: 122,921,319		probably null	Het
Tsga13	A	G	6: 30,912,263	V18A	probably benign	Het
Zcchc4	A	T	5: 52,784,100	D79V	probably damaging	Het

Other mutations in Ugt2a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Ugt2a3	APN	5	87325655	missense	probably damaging	0.99
IGL00542:Ugt2a3	APN	5	87336823	missense	possibly damaging	0.61
IGL01335:Ugt2a3	APN	5	87336785	missense	probably damaging	1.00
IGL01369:Ugt2a3	APN	5	87327120	missense	probably damaging	1.00
IGL01808:Ugt2a3	APN	5	87325555	missense	probably benign	0.09
IGL02380:Ugt2a3	APN	5	87336799	missense	probably benign	0.09
IGL03245:Ugt2a3	APN	5	87336580	missense	probably damaging	1.00
IGL03260:Ugt2a3	APN	5	87336580	missense	probably damaging	1.00
IGL03261:Ugt2a3	APN	5	87336580	missense	probably damaging	1.00
IGL03280:Ugt2a3	APN	5	87336580	missense	probably damaging	1.00
IGL03302:Ugt2a3	APN	5	87336580	missense	probably damaging	1.00
D4186:Ugt2a3	UTSW	5	87329613	missense	probably damaging	1.00
R0051:Ugt2a3	UTSW	5	87337006	missense	probably damaging	1.00
R0103:Ugt2a3	UTSW	5	87336718	missense	possibly damaging	0.89
R0103:Ugt2a3	UTSW	5	87336718	missense	possibly damaging	0.89
R0324:Ugt2a3	UTSW	5	87327073	critical splice donor site	probably null
R0401:Ugt2a3	UTSW	5	87336490	missense	probably benign	0.03
R0506:Ugt2a3	UTSW	5	87336649	missense	possibly damaging	0.78
R0903:Ugt2a3	UTSW	5	87327711	missense	probably benign	0.00
R0940:Ugt2a3	UTSW	5	87327206	missense	possibly damaging	0.95
R1121:Ugt2a3	UTSW	5	87327689	missense	probably damaging	0.99
R1296:Ugt2a3	UTSW	5	87327146	missense	probably damaging	0.96
R1527:Ugt2a3	UTSW	5	87325598	missense	probably damaging	1.00
R2104:Ugt2a3	UTSW	5	87329682	splice site	probably null
R2119:Ugt2a3	UTSW	5	87336571	missense	probably damaging	0.98
R2374:Ugt2a3	UTSW	5	87327191	missense	probably damaging	1.00
R3082:Ugt2a3	UTSW	5	87325675	missense	probably benign	0.05
R3853:Ugt2a3	UTSW	5	87337159	missense	possibly damaging	0.74
R4063:Ugt2a3	UTSW	5	87336866	missense	probably benign	0.04
R4274:Ugt2a3	UTSW	5	87327689	missense	probably damaging	0.99
R4739:Ugt2a3	UTSW	5	87327195	missense	probably damaging	0.97
R4879:Ugt2a3	UTSW	5	87331285	missense	probably benign	0.06
R5327:Ugt2a3	UTSW	5	87331315	missense	probably damaging	1.00
R5508:Ugt2a3	UTSW	5	87327200	missense	probably damaging	0.98
R5866:Ugt2a3	UTSW	5	87336547	missense	probably damaging	1.00
R6026:Ugt2a3	UTSW	5	87336477	missense	probably benign	0.00
R6268:Ugt2a3	UTSW	5	87329613	missense	probably damaging	1.00
R6807:Ugt2a3	UTSW	5	87336758	missense	probably benign	0.00
R6980:Ugt2a3	UTSW	5	87325632	missense	probably damaging	1.00
R7056:Ugt2a3	UTSW	5	87337094	missense	probably damaging	0.98
R7133:Ugt2a3	UTSW	5	87325534	missense	possibly damaging	0.61
R7477:Ugt2a3	UTSW	5	87336620	missense	possibly damaging	0.90
R7485:Ugt2a3	UTSW	5	87327680	critical splice donor site	probably null
R7798:Ugt2a3	UTSW	5	87327723	missense	probably damaging	1.00
R7957:Ugt2a3	UTSW	5	87327191	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-04-17