Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02588:Ugt3a2'

299602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt3a2

Ensembl Gene

ENSMUSG00000049152

Gene Name

UDP glycosyltransferases 3 family, polypeptide A2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL02588

Quality Score

Status

Chromosome

Chromosomal Location

9335550-9370955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9361456 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 106 (H106L)

Ref Sequence

ENSEMBL: ENSMUSP00000072236 (fasta)

Gene Model

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

AlphaFold

Q8JZZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000072403
AA Change: H106L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072236
Gene: ENSMUSG00000049152
AA Change: H106L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	A	12: 52,886,499	W258*	probably null	Het
Ankmy2	T	C	12: 36,176,686		probably benign	Het
Arhgap26	G	T	18: 38,601,617		probably benign	Het
Aspscr1	A	G	11: 120,677,531	D60G	possibly damaging	Het
Cdh15	C	A	8: 122,856,552	Y31*	probably null	Het
Cnih3	A	G	1: 181,409,704	R76G	probably benign	Het
Cplx1	C	A	5: 108,525,423	R44L	possibly damaging	Het
Dhx57	T	A	17: 80,268,871	I597F	probably damaging	Het
Dnah17	G	T	11: 118,025,653	F4231L	possibly damaging	Het
Dst	T	G	1: 34,117,484	L173R	probably damaging	Het
Fam84b	T	C	15: 60,823,150	D249G	probably damaging	Het
Fezf2	A	T	14: 12,343,687	Y353N	probably damaging	Het
Ghrhr	T	A	6: 55,383,410	L247Q	probably damaging	Het
Gm10912	C	T	2: 104,066,852		probably benign	Het
Gpcpd1	A	T	2: 132,534,753	L541H	probably damaging	Het
Gpld1	C	T	13: 24,943,699	T28I	probably damaging	Het
Lmf2	A	T	15: 89,355,406		probably null	Het
Mex3c	A	G	18: 73,590,045	N403S	probably damaging	Het
Nlrp1b	A	T	11: 71,182,279	L246*	probably null	Het
Nlrp2	A	T	7: 5,327,552	L615*	probably null	Het
Nlrp4c	A	T	7: 6,084,648	D760V	probably benign	Het
Nlrp4g	T	C	9: 124,348,843		noncoding transcript	Het
Nr2f1	C	A	13: 78,195,156		probably benign	Het
Nuggc	T	A	14: 65,617,777		probably benign	Het
Olfr1228	T	C	2: 89,249,698		probably benign	Het
Olfr646	C	T	7: 104,107,053	T258I	possibly damaging	Het
Papolg	T	A	11: 23,890,252	I75F	probably damaging	Het
Pcdhgc5	A	G	18: 37,821,950	Y759C	probably damaging	Het
Pdp2	A	G	8: 104,594,904	K462E	possibly damaging	Het
Plod1	A	T	4: 147,913,290	L654*	probably null	Het
Ppp4r3b	G	T	11: 29,198,853	G25*	probably null	Het
Ptch1	T	C	13: 63,511,918	D1307G	probably benign	Het
Ranbp17	A	G	11: 33,217,361	V1034A	probably benign	Het
Rbl2	T	A	8: 91,087,084	L319Q	probably damaging	Het
Retnlg	A	G	16: 48,872,892	T11A	probably benign	Het
Rfc3	A	T	5: 151,642,916	F356Y	possibly damaging	Het
Rnf213	G	T	11: 119,416,536	C674F	probably benign	Het
Shcbp1l	A	G	1: 153,428,665	K157E	probably benign	Het
Slc22a17	A	G	14: 54,907,994	C233R	probably damaging	Het
Slc38a9	A	G	13: 112,697,977		probably null	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
St14	C	A	9: 31,090,033		probably benign	Het
Sympk	G	A	7: 19,042,625	V481M	probably benign	Het
Timeless	T	A	10: 128,243,334	L350Q	probably damaging	Het
Tnfrsf1a	A	G	6: 125,360,766	I229V	probably benign	Het
Zbtb45	A	T	7: 13,006,277	C470*	probably null	Het

Other mutations in Ugt3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Ugt3a2	APN	15	9367268	missense	probably damaging	0.99
IGL01131:Ugt3a2	APN	15	9365162	missense	probably damaging	1.00
IGL01627:Ugt3a2	APN	15	9335720	missense	probably damaging	1.00
IGL01746:Ugt3a2	APN	15	9361668	missense	probably damaging	1.00
IGL01949:Ugt3a2	APN	15	9335729	missense	probably damaging	1.00
IGL02213:Ugt3a2	APN	15	9370224	missense	probably benign	0.00
IGL02407:Ugt3a2	APN	15	9365230	nonsense	probably null
IGL02894:Ugt3a2	APN	15	9367401	missense	probably damaging	1.00
IGL02966:Ugt3a2	APN	15	9370068	missense	probably damaging	1.00
IGL03385:Ugt3a2	APN	15	9338738	missense	probably damaging	0.99
IGL03493:Ugt3a2	APN	15	9361483	missense	probably damaging	0.96
R0554:Ugt3a2	UTSW	15	9351120	missense	probably benign	0.14
R0833:Ugt3a2	UTSW	15	9370150	missense	probably damaging	0.96
R1071:Ugt3a2	UTSW	15	9367368	missense	possibly damaging	0.82
R1513:Ugt3a2	UTSW	15	9361524	missense	probably benign	0.07
R1844:Ugt3a2	UTSW	15	9351168	missense	probably benign	0.07
R1874:Ugt3a2	UTSW	15	9365351	missense	probably damaging	1.00
R2305:Ugt3a2	UTSW	15	9351117	missense	probably benign
R3052:Ugt3a2	UTSW	15	9365288	missense	probably damaging	1.00
R3755:Ugt3a2	UTSW	15	9367412	missense	probably benign	0.21
R3945:Ugt3a2	UTSW	15	9370098	missense	possibly damaging	0.91
R4135:Ugt3a2	UTSW	15	9338724	missense	probably damaging	0.98
R4261:Ugt3a2	UTSW	15	9335793	splice site	probably null
R4438:Ugt3a2	UTSW	15	9351197	missense	probably benign	0.01
R4570:Ugt3a2	UTSW	15	9338721	missense	probably benign	0.12
R4791:Ugt3a2	UTSW	15	9361579	missense	probably damaging	1.00
R4957:Ugt3a2	UTSW	15	9365188	missense	probably benign	0.27
R5011:Ugt3a2	UTSW	15	9365287	missense	probably damaging	1.00
R5035:Ugt3a2	UTSW	15	9361618	missense	probably benign	0.01
R5554:Ugt3a2	UTSW	15	9370201	missense	probably damaging	1.00
R5573:Ugt3a2	UTSW	15	9361683	missense	probably damaging	1.00
R5631:Ugt3a2	UTSW	15	9361885	missense	probably damaging	0.98
R5696:Ugt3a2	UTSW	15	9361448	splice site	silent
R6265:Ugt3a2	UTSW	15	9361579	missense	probably damaging	1.00
R6302:Ugt3a2	UTSW	15	9365311	missense	probably damaging	1.00
R6311:Ugt3a2	UTSW	15	9361518	nonsense	probably null
R6680:Ugt3a2	UTSW	15	9370068	missense	probably damaging	1.00
R8229:Ugt3a2	UTSW	15	9367377	missense	probably damaging	0.99
R8296:Ugt3a2	UTSW	15	9361938	missense	probably benign	0.18
R8809:Ugt3a2	UTSW	15	9367259	missense	possibly damaging	0.69
R9066:Ugt3a2	UTSW	15	9367298	missense	possibly damaging	0.94
R9071:Ugt3a2	UTSW	15	9370138	nonsense	probably null
R9151:Ugt3a2	UTSW	15	9361965	missense	probably benign	0.03
R9522:Ugt3a2	UTSW	15	9370123	missense	probably damaging	1.00
R9609:Ugt3a2	UTSW	15	9361819	missense	probably damaging	1.00
Z1177:Ugt3a2	UTSW	15	9367257	missense	probably benign	0.02

Posted On

2015-04-16