Mutagenetix > Incidental Mutation

Incidental Mutation 'R4438:Ugt3a1'

329639

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

Ugt3a2

MMRRC Submission

041703-MU

Accession Numbers

Essential gene?

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

Stock #

R4438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9335670-9370960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9351283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 97 (E97D)

Ref Sequence

ENSEMBL: ENSMUSP00000072236 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

probably benign
Transcript: ENSMUST00000072403
AA Change: E97D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000072236
Gene: ENSMUSG00000049152
AA Change: E97D

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

0.0993

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	A	2: 58,367,739 (GRCm39)	I141F	probably benign	Het
Adam6b	A	C	12: 113,454,281 (GRCm39)	Q366P	probably damaging	Het
Adck1	C	T	12: 88,397,920 (GRCm39)	Q185*	probably null	Het
Adgrb3	T	C	1: 25,870,108 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,714,466 (GRCm39)	S105P	probably damaging	Het
Asns	C	A	6: 7,675,320 (GRCm39)	A561S	probably benign	Het
Bcl2a1d	A	T	9: 88,613,753 (GRCm39)	M7K	probably benign	Het
Bst1	A	T	5: 43,982,682 (GRCm39)		probably null	Het
Cdc37l1	T	C	19: 28,985,021 (GRCm39)	F224L	probably damaging	Het
Csmd3	G	A	15: 47,763,191 (GRCm39)	T1215I	possibly damaging	Het
Csnk1e	A	T	15: 79,305,129 (GRCm39)	S323T	probably benign	Het
Cyp2j7	G	T	4: 96,105,646 (GRCm39)	T288K	probably benign	Het
Dnaaf5	T	A	5: 139,149,147 (GRCm39)	I482N	probably damaging	Het
Dpy19l3	A	G	7: 35,392,284 (GRCm39)	I636T	probably damaging	Het
Enpep	T	G	3: 129,077,740 (GRCm39)	T626P	possibly damaging	Het
Fgfr2	G	A	7: 129,774,660 (GRCm39)	R509*	probably null	Het
Gm5849	T	A	3: 90,685,182 (GRCm39)	K1M	probably null	Het
Gpr83	T	C	9: 14,776,134 (GRCm39)	Y152H	probably damaging	Het
Hdac7	T	C	15: 97,705,596 (GRCm39)	E400G	probably damaging	Het
Hypk	A	T	2: 121,288,475 (GRCm39)	E82V	probably damaging	Het
Iqub	C	A	6: 24,505,867 (GRCm39)	A14S	probably benign	Het
Lias	T	C	5: 65,552,787 (GRCm39)	M130T	probably damaging	Het
Lingo4	T	C	3: 94,310,204 (GRCm39)	S381P	possibly damaging	Het
Mdn1	A	G	4: 32,704,635 (GRCm39)	T1536A	probably damaging	Het
Moxd2	T	A	6: 40,860,996 (GRCm39)	D265V	probably damaging	Het
Mtbp	C	A	15: 55,466,611 (GRCm39)	S541R	probably benign	Het
Or10j27	C	A	1: 172,957,869 (GRCm39)	C305F	probably benign	Het
Or2a54	T	C	6: 43,093,221 (GRCm39)	S182P	probably benign	Het
Or4k15b	T	C	14: 50,272,287 (GRCm39)	D191G	probably damaging	Het
Pcsk9	G	T	4: 106,316,156 (GRCm39)	Q96K	probably benign	Het
Pramel14	T	C	4: 143,718,192 (GRCm39)	Y417C	probably damaging	Het
Rln1	A	T	19: 29,311,962 (GRCm39)	F12Y	possibly damaging	Het
Setd1a	A	G	7: 127,384,903 (GRCm39)	N585D	possibly damaging	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Smarcal1	T	C	1: 72,650,637 (GRCm39)		probably benign	Het
Snx19	G	T	9: 30,339,895 (GRCm39)	L344F	probably benign	Het
Srfbp1	T	C	18: 52,621,403 (GRCm39)	C155R	probably benign	Het
Sspo	C	T	6: 48,464,287 (GRCm39)	R3914C	probably damaging	Het
Tacc2	G	A	7: 130,225,271 (GRCm39)	S652N	probably damaging	Het
Tmub1	A	C	5: 24,651,068 (GRCm39)	L197R	probably damaging	Het
Tnc	T	C	4: 63,926,066 (GRCm39)	T905A	possibly damaging	Het
Tnfrsf21	G	T	17: 43,398,733 (GRCm39)	R613L	possibly damaging	Het
Vmn2r25	A	G	6: 123,816,756 (GRCm39)	I275T	probably benign	Het
Zfp1010	T	G	2: 176,956,889 (GRCm39)	Q203P	possibly damaging	Het
Zfp568	G	T	7: 29,721,721 (GRCm39)	C221F	probably benign	Het
Zfp91	C	A	19: 12,755,385 (GRCm39)	E217*	probably null	Het
Zswim3	T	A	2: 164,662,563 (GRCm39)	C348S	probably benign	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
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'- GCTATGTCTTTAAGTGAAGGGC -3'
(R):5'- AGCCAAGAGTGAACTACCATG -3'

Sequencing Primer
(F):5'- TGTCTTTAAGTGAAGGGCATTATTAG -3'
(R):5'- GAGTGAACTACCATGCACAATC -3'

Posted On

2015-07-21