Mutagenetix > Incidental Mutation

Incidental Mutation 'R9609:Ugt3a1'

724114

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

Ugt3a2

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9609 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9335670-9370960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 9361905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 227 (E227A)

Ref Sequence

ENSEMBL: ENSMUSP00000072236 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

probably damaging
Transcript: ENSMUST00000072403
AA Change: E227A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072236
Gene: ENSMUSG00000049152
AA Change: E227A

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,208,549 (GRCm39)	S241P	probably damaging	Het
Adam23	A	T	1: 63,576,102 (GRCm39)	M295L	probably benign	Het
Ano8	T	A	8: 71,933,726 (GRCm39)	D522V	unknown	Het
Asgr2	T	C	11: 69,988,667 (GRCm39)	L120P	probably damaging	Het
Atp5mc2	A	G	15: 102,573,580 (GRCm39)	F79L	probably damaging	Het
Baiap2	C	T	11: 119,847,958 (GRCm39)	R29C	probably damaging	Het
Bicdl2	A	G	17: 23,884,513 (GRCm39)	E145G		Het
Cad	T	C	5: 31,228,018 (GRCm39)		probably null	Het
Dhrs7b	A	G	11: 60,735,121 (GRCm39)	R51G	possibly damaging	Het
Dnah3	A	T	7: 119,670,236 (GRCm39)	Y694N	probably damaging	Het
Dnaja4	G	A	9: 54,616,644 (GRCm39)	G216S	probably null	Het
Dync1h1	T	C	12: 110,607,362 (GRCm39)	V2651A	probably benign	Het
Fbxw28	T	C	9: 109,167,515 (GRCm39)	T81A	probably benign	Het
Fga	A	T	3: 82,940,064 (GRCm39)	I573F	probably damaging	Het
Fgd6	T	A	10: 93,879,674 (GRCm39)	I176N	probably damaging	Het
Fhl5	A	T	4: 25,214,653 (GRCm39)	C41*	probably null	Het
Fibcd1	A	G	2: 31,728,653 (GRCm39)	V68A	probably benign	Het
Fign	T	C	2: 63,810,286 (GRCm39)	D328G	probably benign	Het
Gtpbp10	A	C	5: 5,607,396 (GRCm39)	F15C	probably damaging	Het
Hmcn1	A	T	1: 150,555,346 (GRCm39)	V2475D	probably damaging	Het
Iglv3	A	G	16: 19,060,221 (GRCm39)	S36P	probably damaging	Het
Igsf10	G	T	3: 59,226,869 (GRCm39)	T2268N	probably damaging	Het
Krt75	A	G	15: 101,474,677 (GRCm39)	I473T	probably benign	Het
Lcn3	A	G	2: 25,657,596 (GRCm39)	E162G	possibly damaging	Het
Lnpk	A	G	2: 74,401,298 (GRCm39)	V17A	probably damaging	Het
Malrd1	A	G	2: 15,700,081 (GRCm39)	S643G	unknown	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mlip	T	A	9: 77,045,797 (GRCm39)	L894F	possibly damaging	Het
Muc4	A	T	16: 32,577,234 (GRCm39)	T175S		Het
Nkpd1	A	C	7: 19,257,462 (GRCm39)	I414L	possibly damaging	Het
Nrxn2	C	A	19: 6,540,203 (GRCm39)	N834K	probably damaging	Het
Oacyl	A	G	18: 65,843,599 (GRCm39)	T99A	probably benign	Het
Patj	T	G	4: 98,576,473 (GRCm39)	F570L	probably benign	Het
Piwil4	T	C	9: 14,614,443 (GRCm39)	T107A		Het
Ppp1r12b	G	A	1: 134,824,084 (GRCm39)	Q180*	probably null	Het
Prpf4b	A	G	13: 35,068,032 (GRCm39)	D287G	unknown	Het
Rab17	T	C	1: 90,891,907 (GRCm39)	Y39C	probably damaging	Het
Rbsn	T	A	6: 92,179,565 (GRCm39)	I125F	probably damaging	Het
Rnf207	C	A	4: 152,402,222 (GRCm39)	G74C	probably damaging	Het
Rrs1	T	C	1: 9,616,518 (GRCm39)	L257P	probably benign	Het
Ryr2	T	C	13: 11,683,848 (GRCm39)	E3072G	probably damaging	Het
Scn8a	A	C	15: 100,834,407 (GRCm39)	I68L	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc26a7	T	A	4: 14,532,636 (GRCm39)	I413F	probably damaging	Het
Slc4a11	T	A	2: 130,530,035 (GRCm39)	T248S	possibly damaging	Het
Spen	A	G	4: 141,215,419 (GRCm39)	I471T	unknown	Het
Tbpl2	C	T	2: 23,977,197 (GRCm39)	D274N	probably damaging	Het
Timm23	A	G	14: 31,902,543 (GRCm39)	M200T	probably benign	Het
Tlr3	T	C	8: 45,850,117 (GRCm39)	I851V	probably benign	Het
Tnfrsf18	T	A	4: 156,113,208 (GRCm39)	V298E	possibly damaging	Het
Trav6-3	A	G	14: 53,667,618 (GRCm39)	N41S	possibly damaging	Het
Trim17	C	A	11: 58,855,964 (GRCm39)	A7D	probably damaging	Het
Ttbk1	T	C	17: 46,758,148 (GRCm39)	T829A	probably damaging	Het
Vmn1r218	C	T	13: 23,320,839 (GRCm39)	T62I	probably benign	Het
Vmn2r100	T	C	17: 19,743,732 (GRCm39)	L465P	probably damaging	Het
Vps13c	A	T	9: 67,841,831 (GRCm39)	Q1951L	probably damaging	Het
Wdcp	A	G	12: 4,900,258 (GRCm39)	D38G	probably damaging	Het
Xdh	T	A	17: 74,231,990 (GRCm39)	Q240L	possibly damaging	Het
Zc3h4	T	A	7: 16,150,751 (GRCm39)	V23D	unknown	Het
Zkscan8	C	A	13: 21,709,434 (GRCm39)	V155F	possibly 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
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
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'- AGCTTGGGAAACGATTTGTGTC -3'
(R):5'- GTGAGAGCTAATTTGTCACTTACTTGG -3'

Sequencing Primer
(F):5'- TTCCCTTTCAATTTAGCTATATGGAC -3'
(R):5'- CACTTACTTGGGGTATTGGCTGAAC -3'

Posted On

2022-09-12