Mutagenetix > Incidental Mutation

Incidental Mutation 'R9071:Ugt3a1'

689561

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

Ugt3a2

MMRRC Submission

068893-MU

Accession Numbers

Essential gene?

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

Stock #

R9071 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9335670-9370960 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 9370224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 456 (L456*)

Ref Sequence

ENSEMBL: ENSMUSP00000072236 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

probably null
Transcript: ENSMUST00000072403
AA Change: L456*

SMART Domains

Protein: ENSMUSP00000072236
Gene: ENSMUSG00000049152
AA Change: L456*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	T	7: 41,274,783 (GRCm39)	R162L	probably benign	Het
Alpi	A	G	1: 87,026,584 (GRCm39)	V469A	probably damaging	Het
Amotl2	G	T	9: 102,595,892 (GRCm39)		probably benign	Het
Ano3	T	A	2: 110,625,418 (GRCm39)		probably null	Het
Atg16l1	G	T	1: 87,683,907 (GRCm39)		probably benign	Het
Atg2b	C	A	12: 105,625,099 (GRCm39)	E626*	probably null	Het
B3galt9	T	C	2: 34,728,435 (GRCm39)	V78A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccdc162	G	A	10: 41,457,174 (GRCm39)	Q1588*	probably null	Het
Cd3d	A	T	9: 44,896,340 (GRCm39)	H43L	probably benign	Het
Cenpk	C	T	13: 104,378,870 (GRCm39)	Q164*	probably null	Het
Clybl	C	A	14: 122,608,697 (GRCm39)	D96E	probably benign	Het
Cog1	T	C	11: 113,546,939 (GRCm39)	V511A	probably damaging	Het
Crhr1	T	A	11: 104,064,133 (GRCm39)	I282N	probably damaging	Het
Crybg2	A	G	4: 133,818,542 (GRCm39)	N1433D	probably damaging	Het
Cspp1	A	T	1: 10,159,121 (GRCm39)	I516F	possibly damaging	Het
Cul9	T	C	17: 46,837,379 (GRCm39)	T1030A	probably benign	Het
Cyp2d10	T	C	15: 82,288,361 (GRCm39)	T313A	probably damaging	Het
Ddx11	T	A	17: 66,450,736 (GRCm39)	N549K	probably damaging	Het
Ddx41	A	G	13: 55,680,219 (GRCm39)	V391A	probably damaging	Het
Eif3a	T	C	19: 60,751,634 (GRCm39)	D1227G	unknown	Het
Fam83f	T	C	15: 80,576,206 (GRCm39)	Y286H	probably damaging	Het
Fasn	T	C	11: 120,708,324 (GRCm39)	D647G	probably damaging	Het
Fat4	T	C	3: 39,037,598 (GRCm39)	V3750A	probably benign	Het
Golga2	T	C	2: 32,178,364 (GRCm39)	S14P	probably damaging	Het
Hgsnat	A	G	8: 26,436,302 (GRCm39)	V584A	possibly damaging	Het
Ifi207	A	T	1: 173,557,764 (GRCm39)	F325I	unknown	Het
Igfals	A	T	17: 25,099,670 (GRCm39)	I254F	probably damaging	Het
Matr3	T	C	18: 35,705,803 (GRCm39)	Y243H	possibly damaging	Het
Mki67	G	C	7: 135,301,205 (GRCm39)	D1276E	probably benign	Het
Moap1	T	A	12: 102,709,364 (GRCm39)	K62*	probably null	Het
Msto1	C	A	3: 88,812,414 (GRCm39)		probably benign	Het
Myt1	A	T	2: 181,448,420 (GRCm39)	D697V	possibly damaging	Het
Nampt	T	A	12: 32,892,781 (GRCm39)	V356E	probably damaging	Het
Nell2	T	A	15: 95,244,682 (GRCm39)	K472*	probably null	Het
Nfe2l3	A	C	6: 51,434,243 (GRCm39)	S268R	probably benign	Het
Or8b43	T	C	9: 38,361,032 (GRCm39)	I288T	possibly damaging	Het
Osbpl10	G	T	9: 114,890,908 (GRCm39)	V99L	probably benign	Het
Plod2	A	G	9: 92,485,048 (GRCm39)	I537M	probably benign	Het
Prdm4	A	G	10: 85,729,076 (GRCm39)	L770P	probably benign	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Scaper	T	C	9: 55,771,803 (GRCm39)	D371G	probably benign	Het
Sema3e	A	G	5: 14,282,154 (GRCm39)	K430R	probably benign	Het
Sez6l	A	T	5: 112,573,603 (GRCm39)		probably benign	Het
Slco1a5	A	T	6: 142,196,052 (GRCm39)	I317N	possibly damaging	Het
Spata4	T	G	8: 55,055,742 (GRCm39)	F211C	probably damaging	Het
Sspo	A	G	6: 48,433,982 (GRCm39)	E929G	probably benign	Het
Sult1e1	A	C	5: 87,735,681 (GRCm39)		probably benign	Het
Tas2r125	A	T	6: 132,887,400 (GRCm39)	N263Y	probably benign	Het
Wdr20rt	G	A	12: 65,274,222 (GRCm39)	V562I	probably benign	Het
Zc3h7b	T	C	15: 81,677,964 (GRCm39)	*983Q	probably null	Het
Zfp28	T	A	7: 6,397,544 (GRCm39)	C660S	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
R2338:Ugt3a1	UTSW	15	9,292,059 (GRCm39)	splice site	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
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'- AAGGGTTTGCCAACAGATTTG -3'
(R):5'- TCAGATACCTGGTTACAGCAAC -3'

Sequencing Primer
(F):5'- CAACAGATTTGGTATATAGCTGAGC -3'
(R):5'- TGGTTACAGCAACAAGAACCTTTAC -3'

Posted On

2021-11-19