Mutagenetix > Incidental Mutation

Incidental Mutation 'R5035:Ugt3a1'

389515

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

Ugt3a2

MMRRC Submission

042626-MU

Accession Numbers

Essential gene?

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

Stock #

R5035 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9335670-9370960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 9361704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 160 (R160Q)

Ref Sequence

ENSEMBL: ENSMUSP00000072236 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

probably benign
Transcript: ENSMUST00000072403
AA Change: R160Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000072236
Gene: ENSMUSG00000049152
AA Change: R160Q

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	C	9: 53,494,810 (GRCm39)	I361V	probably benign	Het
Afp	A	G	5: 90,655,764 (GRCm39)	D583G	probably benign	Het
Bcas3	C	T	11: 85,434,771 (GRCm39)	A552V	probably damaging	Het
Bfsp2	T	G	9: 103,357,065 (GRCm39)	T121P	probably benign	Het
Bicra	C	T	7: 15,713,349 (GRCm39)	R951Q	possibly damaging	Het
Cdc40	G	A	10: 40,725,809 (GRCm39)	T220I	probably benign	Het
Cdk5rap3	T	C	11: 96,806,911 (GRCm39)		probably benign	Het
Clcnka	A	T	4: 141,122,469 (GRCm39)	Y179*	probably null	Het
Creb3l1	T	A	2: 91,817,431 (GRCm39)	I361F	probably benign	Het
Csmd3	T	C	15: 47,454,175 (GRCm39)	Y3557C	probably damaging	Het
Dab2ip	A	G	2: 35,599,953 (GRCm39)	S190G	probably benign	Het
Dbx1	T	C	7: 49,282,284 (GRCm39)	H307R	unknown	Het
Dock8	C	A	19: 25,063,571 (GRCm39)	P258T	probably damaging	Het
Eml6	T	C	11: 29,804,187 (GRCm39)	I305V	probably benign	Het
Frem3	T	A	8: 81,342,543 (GRCm39)	F1612Y	probably damaging	Het
Fubp1	A	G	3: 151,920,488 (GRCm39)	T76A	probably benign	Het
Glmp	G	C	3: 88,233,951 (GRCm39)		probably benign	Het
Gm20918	A	G	Y: 5,045,992 (GRCm39)	Q183R	probably benign	Het
Krt28	T	C	11: 99,257,650 (GRCm39)	N397S	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Map3k13	T	C	16: 21,740,421 (GRCm39)	Y583H	probably benign	Het
Mcm3	A	T	1: 20,873,642 (GRCm39)		probably benign	Het
Misp	T	C	10: 79,663,790 (GRCm39)	V588A	probably benign	Het
Or1j19	A	G	2: 36,676,903 (GRCm39)	D122G	probably damaging	Het
Or2z9	T	A	8: 72,853,922 (GRCm39)	L106H	probably damaging	Het
Or4c105	A	T	2: 88,648,443 (GRCm39)	K309N	probably benign	Het
Or51a43	G	A	7: 103,717,614 (GRCm39)	T208I	possibly damaging	Het
Or8g37	G	A	9: 39,731,390 (GRCm39)	A152T	possibly damaging	Het
Osbpl9	A	G	4: 108,923,364 (GRCm39)	F449L	probably damaging	Het
Pkhd1l1	A	G	15: 44,431,720 (GRCm39)	D3358G	probably damaging	Het
Prodh2	A	T	7: 30,205,904 (GRCm39)	S247C	possibly damaging	Het
Prr23a3	G	A	9: 98,747,183 (GRCm39)	E46K	possibly damaging	Het
Ptprz1	A	G	6: 23,016,214 (GRCm39)	I837V	probably benign	Het
Rabgap1l	A	C	1: 160,551,606 (GRCm39)	F263V	probably damaging	Het
Rnf4	A	G	5: 34,508,683 (GRCm39)	K182E	probably damaging	Het
Slc24a2	G	T	4: 86,929,943 (GRCm39)	R469S	possibly damaging	Het
Speer2	A	G	16: 69,654,829 (GRCm39)		probably null	Het
Tg	C	A	15: 66,553,662 (GRCm39)		probably null	Het
Tns1	G	A	1: 73,992,979 (GRCm39)		probably benign	Het
Top2b	G	T	14: 16,409,966 (GRCm38)	A878S	probably benign	Het
Trgc4	G	T	13: 19,536,506 (GRCm39)	R188L	unknown	Het
Ush2a	G	T	1: 188,643,005 (GRCm39)	L4122F	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
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'- TCCTTTGGGAATTAAGCATAGTAGC -3'
(R):5'- AGGATTTCCCTTTGCTTCATGG -3'

Sequencing Primer
(F):5'- GGGAATTAAGCATAGTAGCATTCC -3'
(R):5'- CCCTTTGCTTCATGGAGAAATCAAGG -3'

Posted On

2016-06-06