Mutagenetix > Incidental Mutation

Incidental Mutation 'R2338:Ugt3a1'

246649

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

Ugt3a2

MMRRC Submission

040324-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R2338 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9335670-9370960 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 9292059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022861] [ENSMUST00000176878]

AlphaFold

Q3UP75

Predicted Effect

probably benign
Transcript: ENSMUST00000022861

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:UDPGT	23	521	1.4e-98	PFAM
Pfam:Glyco_tran_28_C	300	451	3.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176173

Predicted Effect

probably benign
Transcript: ENSMUST00000176878

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.5%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	G	14: 35,817,109 (GRCm39)	D53G	probably benign	Het
A1cf	C	T	19: 31,909,945 (GRCm39)	P330S	probably benign	Het
Acta2	A	G	19: 34,225,941 (GRCm39)		probably benign	Het
Actrt3	A	G	3: 30,651,985 (GRCm39)	*370R	probably null	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Btbd8	T	C	5: 107,658,440 (GRCm39)	L1158S	probably damaging	Het
Cadps2	C	G	6: 23,838,977 (GRCm39)		probably benign	Het
Camsap3	C	T	8: 3,656,808 (GRCm39)	R1048C	probably damaging	Het
Cdkl2	C	T	5: 92,181,538 (GRCm39)	A148T	possibly damaging	Het
Dab2	T	A	15: 6,464,733 (GRCm39)	I395K	possibly damaging	Het
Dclk2	A	G	3: 86,706,324 (GRCm39)	F589S	probably damaging	Het
Ddx60	T	C	8: 62,465,470 (GRCm39)	S1376P	possibly damaging	Het
Eprs1	T	C	1: 185,148,005 (GRCm39)	F1256L	probably damaging	Het
Etaa1	A	T	11: 17,895,605 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,202,727 (GRCm39)	T116A	possibly damaging	Het
Fem1al	C	A	11: 29,773,718 (GRCm39)	A580S	probably benign	Het
Fmnl3	T	C	15: 99,268,108 (GRCm39)	T26A	probably benign	Het
Foxp1	A	G	6: 98,980,254 (GRCm39)	V158A	possibly damaging	Het
G6pd2	T	A	5: 61,967,351 (GRCm39)	D375E	probably benign	Het
Gne	C	T	4: 44,042,196 (GRCm39)	A460T	probably damaging	Het
Gprin1	T	A	13: 54,886,238 (GRCm39)		probably null	Het
Hecw2	T	C	1: 53,943,581 (GRCm39)	M949V	possibly damaging	Het
Herc1	G	A	9: 66,336,251 (GRCm39)	V1599M	possibly damaging	Het
Hk2	A	C	6: 82,708,096 (GRCm39)	N628K	probably damaging	Het
Hmcn1	T	C	1: 150,498,685 (GRCm39)	T4065A	possibly damaging	Het
Ipo8	T	A	6: 148,691,321 (GRCm39)	Q683L	probably benign	Het
Krt81	A	G	15: 101,361,217 (GRCm39)	I121T	probably benign	Het
Lamb2	T	C	9: 108,359,340 (GRCm39)	L322P	probably benign	Het
Lilrb4a	A	G	10: 51,367,796 (GRCm39)	M113V	probably benign	Het
Mnat1	G	A	12: 73,265,917 (GRCm39)		probably null	Het
Mucl1	T	A	15: 103,783,964 (GRCm39)	T68S	possibly damaging	Het
Npnt	G	T	3: 132,597,170 (GRCm39)	D461E	probably damaging	Het
Nrp1	A	T	8: 129,224,385 (GRCm39)	Q716L	probably benign	Het
Or11g25	A	G	14: 50,723,097 (GRCm39)	T61A	possibly damaging	Het
Or12k5	T	G	2: 36,895,159 (GRCm39)	S156R	probably damaging	Het
Or51b6b	A	T	7: 103,309,617 (GRCm39)	I280N	possibly damaging	Het
Podxl2	T	C	6: 88,826,178 (GRCm39)	Q376R	probably damaging	Het
Pudp	T	C	18: 50,701,646 (GRCm39)	D29G	probably benign	Het
Rrs1	C	A	1: 9,616,026 (GRCm39)		probably null	Het
S1pr3	T	C	13: 51,573,614 (GRCm39)	I265T	possibly damaging	Het
Scgb1b2	A	T	7: 30,991,038 (GRCm39)	C23*	probably null	Het
Spag8	G	T	4: 43,652,826 (GRCm39)	R212S	probably benign	Het
Tacc2	A	G	7: 130,335,299 (GRCm39)		probably null	Het
Trmt1l	C	T	1: 151,304,710 (GRCm39)		probably benign	Het
Trpa1	A	T	1: 14,954,469 (GRCm39)	L810Q	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r23	T	G	6: 123,681,384 (GRCm39)	I97M	possibly damaging	Het
Vmn2r65	A	T	7: 84,590,051 (GRCm39)	F622I	possibly damaging	Het
Vps13a	C	T	19: 16,697,817 (GRCm39)	G766E	probably damaging	Het
Wnk1	T	C	6: 119,946,495 (GRCm39)	T553A	probably benign	Het
Xirp2	T	A	2: 67,341,114 (GRCm39)	D1118E	probably damaging	Het
Zfyve9	A	C	4: 108,517,811 (GRCm39)	D461E	probably damaging	Het

Other mutations in Ugt3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00912:Ugt3a1	APN	15	9,310,698 (GRCm39)	missense	probably damaging	1.00
IGL01109:Ugt3a1	APN	15	9,367,354 (GRCm39)	missense	probably damaging	0.99
IGL01131:Ugt3a1	APN	15	9,365,248 (GRCm39)	missense	probably damaging	1.00
IGL01627:Ugt3a1	APN	15	9,335,806 (GRCm39)	missense	probably damaging	1.00
IGL01746:Ugt3a1	APN	15	9,361,754 (GRCm39)	missense	probably damaging	1.00
IGL01752:Ugt3a1	APN	15	9,306,232 (GRCm39)	missense	probably damaging	1.00
IGL01949:Ugt3a1	APN	15	9,335,815 (GRCm39)	missense	probably damaging	1.00
IGL02213:Ugt3a1	APN	15	9,370,310 (GRCm39)	missense	probably benign	0.00
IGL02407:Ugt3a1	APN	15	9,365,316 (GRCm39)	nonsense	probably null
IGL02438:Ugt3a1	APN	15	9,292,062 (GRCm39)	missense	possibly damaging	0.90
IGL02588:Ugt3a1	APN	15	9,361,542 (GRCm39)	missense	probably benign
IGL02894:Ugt3a1	APN	15	9,367,487 (GRCm39)	missense	probably damaging	1.00
IGL02966:Ugt3a1	APN	15	9,370,154 (GRCm39)	missense	probably damaging	1.00
IGL03385:Ugt3a1	APN	15	9,338,824 (GRCm39)	missense	probably damaging	0.99
IGL03493:Ugt3a1	APN	15	9,361,569 (GRCm39)	missense	probably damaging	0.96
PIT4354001:Ugt3a1	UTSW	15	9,306,446 (GRCm39)	nonsense	probably null
R0127:Ugt3a1	UTSW	15	9,306,342 (GRCm39)	missense	probably benign	0.01
R0554:Ugt3a1	UTSW	15	9,351,206 (GRCm39)	missense	probably benign	0.14
R0647:Ugt3a1	UTSW	15	9,310,635 (GRCm39)	missense	probably benign	0.00
R0833:Ugt3a1	UTSW	15	9,370,236 (GRCm39)	missense	probably damaging	0.96
R0841:Ugt3a1	UTSW	15	9,306,214 (GRCm39)	missense	probably benign	0.07
R1071:Ugt3a1	UTSW	15	9,367,454 (GRCm39)	missense	possibly damaging	0.82
R1395:Ugt3a1	UTSW	15	9,306,378 (GRCm39)	missense	possibly damaging	0.92
R1513:Ugt3a1	UTSW	15	9,361,610 (GRCm39)	missense	probably benign	0.07
R1616:Ugt3a1	UTSW	15	9,306,330 (GRCm39)	nonsense	probably null
R1844:Ugt3a1	UTSW	15	9,351,254 (GRCm39)	missense	probably benign	0.07
R1874:Ugt3a1	UTSW	15	9,365,437 (GRCm39)	missense	probably damaging	1.00
R2305:Ugt3a1	UTSW	15	9,351,203 (GRCm39)	missense	probably benign
R3052:Ugt3a1	UTSW	15	9,365,374 (GRCm39)	missense	probably damaging	1.00
R3755:Ugt3a1	UTSW	15	9,367,498 (GRCm39)	missense	probably benign	0.21
R3797:Ugt3a1	UTSW	15	9,310,727 (GRCm39)	nonsense	probably null
R3945:Ugt3a1	UTSW	15	9,370,184 (GRCm39)	missense	possibly damaging	0.91
R4135:Ugt3a1	UTSW	15	9,338,810 (GRCm39)	missense	probably damaging	0.98
R4261:Ugt3a1	UTSW	15	9,335,879 (GRCm39)	splice site	probably null
R4305:Ugt3a1	UTSW	15	9,306,360 (GRCm39)	missense	possibly damaging	0.92
R4385:Ugt3a1	UTSW	15	9,306,565 (GRCm39)	missense	probably benign	0.15
R4438:Ugt3a1	UTSW	15	9,351,283 (GRCm39)	missense	probably benign	0.01
R4570:Ugt3a1	UTSW	15	9,338,807 (GRCm39)	missense	probably benign	0.12
R4572:Ugt3a1	UTSW	15	9,306,479 (GRCm39)	missense	probably benign	0.00
R4611:Ugt3a1	UTSW	15	9,306,486 (GRCm39)	nonsense	probably null
R4744:Ugt3a1	UTSW	15	9,310,639 (GRCm39)	missense	probably benign	0.36
R4791:Ugt3a1	UTSW	15	9,361,665 (GRCm39)	missense	probably damaging	1.00
R4957:Ugt3a1	UTSW	15	9,365,274 (GRCm39)	missense	probably benign	0.27
R5011:Ugt3a1	UTSW	15	9,365,373 (GRCm39)	missense	probably damaging	1.00
R5035:Ugt3a1	UTSW	15	9,361,704 (GRCm39)	missense	probably benign	0.01
R5554:Ugt3a1	UTSW	15	9,370,287 (GRCm39)	missense	probably damaging	1.00
R5573:Ugt3a1	UTSW	15	9,361,769 (GRCm39)	missense	probably damaging	1.00
R5631:Ugt3a1	UTSW	15	9,361,971 (GRCm39)	missense	probably damaging	0.98
R5696:Ugt3a1	UTSW	15	9,361,534 (GRCm39)	splice site	silent
R5715:Ugt3a1	UTSW	15	9,306,430 (GRCm39)	missense	probably damaging	0.96
R6036:Ugt3a1	UTSW	15	9,306,172 (GRCm39)	missense	probably benign	0.01
R6036:Ugt3a1	UTSW	15	9,306,172 (GRCm39)	missense	probably benign	0.01
R6156:Ugt3a1	UTSW	15	9,310,762 (GRCm39)	missense	possibly damaging	0.83
R6228:Ugt3a1	UTSW	15	9,310,726 (GRCm39)	missense	possibly damaging	0.81
R6265:Ugt3a1	UTSW	15	9,361,665 (GRCm39)	missense	probably damaging	1.00
R6302:Ugt3a1	UTSW	15	9,365,397 (GRCm39)	missense	probably damaging	1.00
R6311:Ugt3a1	UTSW	15	9,361,604 (GRCm39)	nonsense	probably null
R6344:Ugt3a1	UTSW	15	9,306,317 (GRCm39)	missense	probably damaging	0.98
R6380:Ugt3a1	UTSW	15	9,306,541 (GRCm39)	missense	probably benign	0.00
R6383:Ugt3a1	UTSW	15	9,306,541 (GRCm39)	missense	probably benign	0.00
R6680:Ugt3a1	UTSW	15	9,370,154 (GRCm39)	missense	probably damaging	1.00
R6737:Ugt3a1	UTSW	15	9,311,895 (GRCm39)	missense	probably benign	0.30
R6848:Ugt3a1	UTSW	15	9,280,138 (GRCm39)	splice site	probably null
R6937:Ugt3a1	UTSW	15	9,292,158 (GRCm39)	missense	probably benign	0.00
R7061:Ugt3a1	UTSW	15	9,306,240 (GRCm39)	missense	probably benign	0.12
R7672:Ugt3a1	UTSW	15	9,310,779 (GRCm39)	nonsense	probably null
R7840:Ugt3a1	UTSW	15	9,311,903 (GRCm39)	missense	probably damaging	1.00
R7945:Ugt3a1	UTSW	15	9,284,261 (GRCm39)	critical splice donor site	probably null
R8105:Ugt3a1	UTSW	15	9,306,476 (GRCm39)	missense	probably benign	0.00
R8229:Ugt3a1	UTSW	15	9,367,463 (GRCm39)	missense	probably damaging	0.99
R8296:Ugt3a1	UTSW	15	9,362,024 (GRCm39)	missense	probably benign	0.18
R8414:Ugt3a1	UTSW	15	9,310,669 (GRCm39)	missense	possibly damaging	0.82
R8809:Ugt3a1	UTSW	15	9,367,345 (GRCm39)	missense	possibly damaging	0.69
R8981:Ugt3a1	UTSW	15	9,312,014 (GRCm39)	missense	probably benign	0.20
R9066:Ugt3a1	UTSW	15	9,367,384 (GRCm39)	missense	possibly damaging	0.94
R9071:Ugt3a1	UTSW	15	9,370,224 (GRCm39)	nonsense	probably null
R9111:Ugt3a1	UTSW	15	9,306,333 (GRCm39)	missense	possibly damaging	0.69
R9151:Ugt3a1	UTSW	15	9,362,051 (GRCm39)	missense	probably benign	0.03
R9451:Ugt3a1	UTSW	15	9,292,158 (GRCm39)	missense	probably benign	0.00
R9522:Ugt3a1	UTSW	15	9,370,209 (GRCm39)	missense	probably damaging	1.00
R9567:Ugt3a1	UTSW	15	9,306,370 (GRCm39)	missense	possibly damaging	0.82
R9609:Ugt3a1	UTSW	15	9,361,905 (GRCm39)	missense	probably damaging	1.00
R9657:Ugt3a1	UTSW	15	9,280,133 (GRCm39)	missense	probably damaging	0.98
Z1177:Ugt3a1	UTSW	15	9,367,343 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGTAGCTATGTCTTTACATGAAAGG -3'
(R):5'- TCCAACCCCTACCAATTTGTAAGTTAG -3'

Sequencing Primer
(F):5'- TCCACAAAGAGGAGACATT -3'
(R):5'- CGTCTATAAGTCGATGCCA -3'

Posted On

2014-10-30