Mutagenetix > Incidental Mutation

Incidental Mutation 'R0103:Ugt2a3'

17668

Institutional Source

Beutler Lab

Gene Symbol

Ugt2a3

Ensembl Gene

ENSMUSG00000035780

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide A3

Synonyms

2010321J07Rik

MMRRC Submission

038389-MU

Accession Numbers

Essential gene?

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

Stock #

R0103 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

87472831-87485054 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87484577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 149 (V149A)

Ref Sequence

ENSEMBL: ENSMUSP00000031195 (fasta)

Gene Model

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

AlphaFold

Q8BWQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031195
AA Change: V149A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: V149A

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

0.1795

Coding Region Coverage

1x: 89.4%
3x: 86.4%
10x: 77.8%
20x: 63.0%

Validation Efficiency

91% (89/98)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,223,951 (GRCm39)	R443S	probably damaging	Het
Adgrl3	A	G	5: 81,940,194 (GRCm39)		probably benign	Het
Anapc1	T	C	2: 128,522,372 (GRCm39)		probably benign	Het
Aqr	T	A	2: 113,979,497 (GRCm39)	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,206,922 (GRCm39)		probably benign	Het
Asah2	G	T	19: 31,996,377 (GRCm39)	H374N	probably benign	Het
Catspere2	A	G	1: 177,943,771 (GRCm39)	N703D	unknown	Het
Ccdc106	C	A	7: 5,060,544 (GRCm39)	Q35K	probably benign	Het
Ccm2l	G	T	2: 152,909,839 (GRCm39)	E64*	probably null	Het
Cep85l	A	T	10: 53,154,270 (GRCm39)	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,815,951 (GRCm39)	I611F	possibly damaging	Het
Cldn22	C	T	8: 48,277,589 (GRCm39)	T9M	probably benign	Het
Coa7	T	C	4: 108,195,338 (GRCm39)	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,821,701 (GRCm39)	Y2N	probably damaging	Het
Cyp27a1	A	C	1: 74,775,074 (GRCm39)	E301A	probably benign	Het
Dennd4c	A	G	4: 86,730,683 (GRCm39)	Y860C	probably benign	Het
Dhx58	T	C	11: 100,586,096 (GRCm39)	T642A	probably damaging	Het
Dlg4	A	G	11: 69,922,019 (GRCm39)	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,069,155 (GRCm39)	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,443,717 (GRCm39)	E9*	probably null	Het
Fbln2	A	C	6: 91,248,532 (GRCm39)	I1066L	probably benign	Het
Fhl2	C	T	1: 43,192,381 (GRCm39)	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884 (GRCm39)	I17K	probably damaging	Het
Gbp7	T	A	3: 142,252,299 (GRCm39)	N627K	probably benign	Het
Gnptab	A	G	10: 88,265,381 (GRCm39)	Y331C	probably damaging	Het
Hibadh	T	A	6: 52,534,862 (GRCm39)	M173L	probably benign	Het
Itga1	T	C	13: 115,152,790 (GRCm39)	I211V	probably benign	Het
Keg1	A	T	19: 12,696,280 (GRCm39)	I155F	possibly damaging	Het
Ltb	A	G	17: 35,414,016 (GRCm39)		probably benign	Het
Manea	A	T	4: 26,329,080 (GRCm39)		probably null	Het
Ms4a4a	T	A	19: 11,370,048 (GRCm39)	M202K	possibly damaging	Het
Myo3a	T	G	2: 22,436,360 (GRCm39)		probably benign	Het
Myo9b	C	T	8: 71,776,493 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ncor1	G	T	11: 62,233,871 (GRCm39)	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,471,980 (GRCm39)	C53*	probably null	Het
Obscn	G	T	11: 58,953,522 (GRCm39)	Y4044*	probably null	Het
Pcsk6	T	C	7: 65,578,845 (GRCm39)		probably benign	Het
Phax	T	A	18: 56,695,785 (GRCm39)	V7D	probably benign	Het
Phxr4	T	C	9: 13,343,087 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,593,583 (GRCm39)	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,460,537 (GRCm39)	C4249R	probably benign	Het
Prpf39	T	C	12: 65,102,057 (GRCm39)	V378A	possibly damaging	Het
Psd2	A	G	18: 36,137,770 (GRCm39)	N455S	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab4b	A	G	7: 26,873,927 (GRCm39)	I117T	probably benign	Het
Rad9b	A	T	5: 122,469,590 (GRCm39)	V348E	probably damaging	Het
Rcor1	T	C	12: 111,076,212 (GRCm39)		probably benign	Het
Rhoc	A	T	3: 104,699,307 (GRCm39)	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,199,743 (GRCm39)	V925G	probably damaging	Het
Slc25a32	A	T	15: 38,963,292 (GRCm39)	Y176*	probably null	Het
Slc7a1	T	A	5: 148,289,236 (GRCm39)	K4*	probably null	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taar4	A	T	10: 23,837,304 (GRCm39)	N305Y	probably damaging	Het
Tcaf1	G	T	6: 42,663,324 (GRCm39)	D185E	probably benign	Het
Tmem138	T	C	19: 10,552,316 (GRCm39)	N62S	possibly damaging	Het
Tnfrsf25	C	T	4: 152,201,405 (GRCm39)	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,067,240 (GRCm39)	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,184,805 (GRCm39)	F597S	probably damaging	Het
Ush2a	T	G	1: 188,051,267 (GRCm39)	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,417,108 (GRCm39)	C114R	possibly damaging	Het
Zc3h13	T	A	14: 75,567,908 (GRCm39)	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,808,375 (GRCm39)	W274*	probably null	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
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

2013-01-31