Mutagenetix > Incidental Mutation

Incidental Mutation 'R8229:Ugt3a1'

640959

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

Ugt3a2

MMRRC Submission

067645-MU

Accession Numbers

Essential gene?

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

Stock #

R8229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9335670-9370960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9367463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 402 (E402G)

Ref Sequence

ENSEMBL: ENSMUSP00000072236 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

probably damaging
Transcript: ENSMUST00000072403
AA Change: E402G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072236
Gene: ENSMUSG00000049152
AA Change: E402G

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: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	A	T	8: 25,201,754 (GRCm39)	M203K	probably damaging	Het
Arhgap23	G	A	11: 97,344,732 (GRCm39)	V565I	probably benign	Het
D6Wsu163e	G	T	6: 126,943,966 (GRCm39)	R454L	probably benign	Het
Def6	A	G	17: 28,436,729 (GRCm39)	D131G	probably damaging	Het
Erc1	T	C	6: 119,730,249 (GRCm39)	T616A	probably benign	Het
Ermard	T	A	17: 15,279,596 (GRCm39)		probably benign	Het
Fsip2	T	C	2: 82,808,487 (GRCm39)	L1602P	possibly damaging	Het
Gli1	C	T	10: 127,168,317 (GRCm39)	R512Q	possibly damaging	Het
Gm6034	A	G	17: 36,367,268 (GRCm39)	T38A	unknown	Het
H2-M10.1	T	C	17: 36,634,931 (GRCm39)	I325V	probably benign	Het
Inf2	A	G	12: 112,578,030 (GRCm39)	D1107G	unknown	Het
Iws1	A	G	18: 32,217,740 (GRCm39)	N448S	probably benign	Het
Klhl24	T	C	16: 19,933,321 (GRCm39)	Y311H	possibly damaging	Het
Lama3	C	T	18: 12,540,608 (GRCm39)	A304V	probably benign	Het
Limch1	A	G	5: 67,186,138 (GRCm39)	E646G	probably damaging	Het
Lrrc8c	T	A	5: 105,754,402 (GRCm39)	V59E	probably benign	Het
Lrrn4	G	A	2: 132,711,807 (GRCm39)	T672I	probably damaging	Het
Magi3	C	A	3: 103,923,017 (GRCm39)	E1233D	possibly damaging	Het
Magi3	T	C	3: 103,923,018 (GRCm39)	E1233G	probably benign	Het
Mgat5b	A	T	11: 116,838,213 (GRCm39)	K284M	probably benign	Het
Nedd4	G	T	9: 72,638,670 (GRCm39)	K485N	probably benign	Het
Or4c114	T	A	2: 88,905,382 (GRCm39)	N18Y	possibly damaging	Het
Or5b101	A	G	19: 13,005,561 (GRCm39)	I44T	possibly damaging	Het
Or5p57	C	T	7: 107,665,794 (GRCm39)	M70I	probably benign	Het
Or5w17	A	T	2: 87,583,408 (GRCm39)	C310S	probably benign	Het
Otud4	A	G	8: 80,400,604 (GRCm39)	H1106R	unknown	Het
Pcdha7	C	A	18: 37,107,776 (GRCm39)	S267*	probably null	Het
Pcdhb11	A	G	18: 37,555,671 (GRCm39)	I334V	probably benign	Het
Phf11b	A	T	14: 59,568,730 (GRCm39)	L61Q	probably damaging	Het
Prepl	T	C	17: 85,388,689 (GRCm39)	D138G	probably benign	Het
Sipa1l1	T	C	12: 82,484,622 (GRCm39)	V1592A	probably damaging	Het
Smc6	T	A	12: 11,341,673 (GRCm39)	S564T	probably benign	Het
Spty2d1	A	G	7: 46,647,522 (GRCm39)	V469A	probably benign	Het
Trim11	G	A	11: 58,872,167 (GRCm39)		probably benign	Het
Ttll7	T	A	3: 146,607,204 (GRCm39)	I158K	probably damaging	Het
Usp33	T	C	3: 152,075,929 (GRCm39)	V383A	probably benign	Het
Ythdc1	A	G	5: 86,957,167 (GRCm39)		probably benign	Het
Ywhab	T	G	2: 163,856,015 (GRCm39)	Y130*	probably null	Het
Zfp609	T	C	9: 65,610,782 (GRCm39)	K727R	possibly damaging	Het
Zscan30	A	C	18: 24,104,737 (GRCm39)	L37R	noncoding transcript	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
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'- CTGACGCTTCCATAGTGAAATC -3'
(R):5'- AGGGCCTTCAAGTACCACAC -3'

Sequencing Primer
(F):5'- GACGCTTCCATAGTGAAATCTTGGAC -3'
(R):5'- ACAAAATTCTAGTTTCACTGGAAAAC -3'

Posted On

2020-07-28