Mutagenetix > Incidental Mutation

Incidental Mutation 'R4261:Ugt3a2'

322670

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a2

Ensembl Gene

ENSMUSG00000049152

Gene Name

UDP glycosyltransferases 3 family, polypeptide A2

Synonyms

MMRRC Submission

041074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4261 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9335550-9370955 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 9335793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000072236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072403]

AlphaFold

Q8JZZ0

Predicted Effect

probably null
Transcript: ENSMUST00000072403

SMART Domains

Protein: ENSMUSP00000072236
Gene: ENSMUSG00000049152

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:UDPGT	23	521	1.1e-99	PFAM
Pfam:Glyco_tran_28_C	307	450	1.5e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144755

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,995,234	S298P	probably damaging	Het
4930407I10Rik	A	G	15: 82,063,726	D608G	possibly damaging	Het
Actr10	T	C	12: 70,952,985	V185A	probably benign	Het
Adam9	G	A	8: 24,964,907	Q733*	probably null	Het
Adamts4	C	T	1: 171,259,104	P822S	probably benign	Het
Arhgap9	G	C	10: 127,328,465	R537P	probably damaging	Het
Bsn	T	A	9: 108,110,684		probably benign	Het
Car5a	A	T	8: 121,944,749	H15Q	probably benign	Het
Disp1	A	T	1: 183,089,386	I490N	probably damaging	Het
Dlgap5	T	G	14: 47,413,788	Y96S	probably damaging	Het
Dnah10	T	A	5: 124,730,137	V162D	possibly damaging	Het
Dock7	A	T	4: 99,003,886	M821K	possibly damaging	Het
Exoc3l	T	C	8: 105,290,967	R528G	probably damaging	Het
Fam234b	G	A	6: 135,209,136	G17E	unknown	Het
Grhl2	G	A	15: 37,360,823	G617D	possibly damaging	Het
Herc1	CTGAGGACTCTTTG	CTG	9: 66,448,348		probably null	Het
Hoxd9	C	A	2: 74,695,687		probably benign	Het
Hspa9	A	G	18: 34,939,423	S550P	probably damaging	Het
Ide	A	C	19: 37,329,186	S63A	unknown	Het
Kat6b	T	A	14: 21,669,669	I1363N	probably damaging	Het
Ltbp1	T	A	17: 75,291,367	C614*	probably null	Het
Mphosph8	A	G	14: 56,674,465	D315G	probably benign	Het
Mthfr-ps1	A	C	5: 78,474,483		noncoding transcript	Het
Mug1	A	G	6: 121,873,734	T730A	probably benign	Het
Myef2	T	C	2: 125,115,479	T119A	possibly damaging	Het
Pald1	A	G	10: 61,343,692	L466P	probably damaging	Het
Pcdh15	G	A	10: 74,645,680	V286M	probably damaging	Het
Pcdhgb2	A	G	18: 37,691,897	D647G	probably damaging	Het
Pdgfrb	A	C	18: 61,077,631	T737P	probably benign	Het
Pgk2	T	G	17: 40,207,383	T385P	probably benign	Het
Pkp4	A	G	2: 59,305,162	Y126C	probably damaging	Het
Plppr1	A	G	4: 49,300,993	I109V	probably benign	Het
Ppcs	A	G	4: 119,421,909	F149L	probably damaging	Het
Ppp2r5d	G	A	17: 46,687,081	Q219*	probably null	Het
Raf1	C	T	6: 115,623,054		probably null	Het
Rfx7	C	T	9: 72,616,643	R372W	probably damaging	Het
Robo4	C	A	9: 37,405,581	S397R	probably benign	Het
Sat1	T	C	X: 155,215,186		probably benign	Het
Serpina1c	T	C	12: 103,897,080	K287R	probably benign	Het
Sgsm2	T	A	11: 74,892,028	H34L	probably damaging	Het
Slc38a4	A	G	15: 96,998,493	Y498H	probably damaging	Het
Ttn	T	A	2: 76,798,040	Y14592F	probably damaging	Het
Ube3b	T	C	5: 114,398,428	F245S	possibly damaging	Het
Wdr91	T	A	6: 34,904,522	S297C	possibly damaging	Het
Zcwpw2	T	C	9: 117,998,914		noncoding transcript	Het

Other mutations in Ugt3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Ugt3a2	APN	15	9367268	missense	probably damaging	0.99
IGL01131:Ugt3a2	APN	15	9365162	missense	probably damaging	1.00
IGL01627:Ugt3a2	APN	15	9335720	missense	probably damaging	1.00
IGL01746:Ugt3a2	APN	15	9361668	missense	probably damaging	1.00
IGL01949:Ugt3a2	APN	15	9335729	missense	probably damaging	1.00
IGL02213:Ugt3a2	APN	15	9370224	missense	probably benign	0.00
IGL02407:Ugt3a2	APN	15	9365230	nonsense	probably null
IGL02588:Ugt3a2	APN	15	9361456	missense	probably benign
IGL02894:Ugt3a2	APN	15	9367401	missense	probably damaging	1.00
IGL02966:Ugt3a2	APN	15	9370068	missense	probably damaging	1.00
IGL03385:Ugt3a2	APN	15	9338738	missense	probably damaging	0.99
IGL03493:Ugt3a2	APN	15	9361483	missense	probably damaging	0.96
R0554:Ugt3a2	UTSW	15	9351120	missense	probably benign	0.14
R0833:Ugt3a2	UTSW	15	9370150	missense	probably damaging	0.96
R1071:Ugt3a2	UTSW	15	9367368	missense	possibly damaging	0.82
R1513:Ugt3a2	UTSW	15	9361524	missense	probably benign	0.07
R1844:Ugt3a2	UTSW	15	9351168	missense	probably benign	0.07
R1874:Ugt3a2	UTSW	15	9365351	missense	probably damaging	1.00
R2305:Ugt3a2	UTSW	15	9351117	missense	probably benign
R3052:Ugt3a2	UTSW	15	9365288	missense	probably damaging	1.00
R3755:Ugt3a2	UTSW	15	9367412	missense	probably benign	0.21
R3945:Ugt3a2	UTSW	15	9370098	missense	possibly damaging	0.91
R4135:Ugt3a2	UTSW	15	9338724	missense	probably damaging	0.98
R4438:Ugt3a2	UTSW	15	9351197	missense	probably benign	0.01
R4570:Ugt3a2	UTSW	15	9338721	missense	probably benign	0.12
R4791:Ugt3a2	UTSW	15	9361579	missense	probably damaging	1.00
R4957:Ugt3a2	UTSW	15	9365188	missense	probably benign	0.27
R5011:Ugt3a2	UTSW	15	9365287	missense	probably damaging	1.00
R5035:Ugt3a2	UTSW	15	9361618	missense	probably benign	0.01
R5554:Ugt3a2	UTSW	15	9370201	missense	probably damaging	1.00
R5573:Ugt3a2	UTSW	15	9361683	missense	probably damaging	1.00
R5631:Ugt3a2	UTSW	15	9361885	missense	probably damaging	0.98
R5696:Ugt3a2	UTSW	15	9361448	splice site	silent
R6265:Ugt3a2	UTSW	15	9361579	missense	probably damaging	1.00
R6302:Ugt3a2	UTSW	15	9365311	missense	probably damaging	1.00
R6311:Ugt3a2	UTSW	15	9361518	nonsense	probably null
R6680:Ugt3a2	UTSW	15	9370068	missense	probably damaging	1.00
R8229:Ugt3a2	UTSW	15	9367377	missense	probably damaging	0.99
R8296:Ugt3a2	UTSW	15	9361938	missense	probably benign	0.18
R8809:Ugt3a2	UTSW	15	9367259	missense	possibly damaging	0.69
R9066:Ugt3a2	UTSW	15	9367298	missense	possibly damaging	0.94
R9071:Ugt3a2	UTSW	15	9370138	nonsense	probably null
R9151:Ugt3a2	UTSW	15	9361965	missense	probably benign	0.03
R9522:Ugt3a2	UTSW	15	9370123	missense	probably damaging	1.00
R9609:Ugt3a2	UTSW	15	9361819	missense	probably damaging	1.00
Z1177:Ugt3a2	UTSW	15	9367257	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGCCTTTAGTCCATCTGAGGC -3'
(R):5'- CTGTTCTCTCCCTTGGGTAGAG -3'

Sequencing Primer
(F):5'- CTTTAGTCCATCTGAGGCAACAG -3'
(R):5'- GAGTCCTCTCTAAGCACAACTTTAC -3'

Posted On

2015-06-20