Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03029:Poglut3'

408352

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Poglut3

Ensembl Gene

ENSMUSG00000034487

Gene Name

protein O-glucosyltransferase 3

Synonyms

4833410J10Rik, Kdelc2, 2010004J24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

IGL03029

Quality Score

Status

Chromosome

Chromosomal Location

53295325-53313167 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 53295588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037853]

AlphaFold

G5E897

Predicted Effect

probably null
Transcript: ENSMUST00000037853

SMART Domains

Protein: ENSMUSP00000039313
Gene: ENSMUSG00000034487

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG_FLMN	23	132	2.17e-2	SMART
Blast:CAP10	135	224	5e-48	BLAST
CAP10	226	471	7.45e-68	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	T	A	9: 106,312,314 (GRCm39)	D213V	probably damaging	Het
Akap6	T	C	12: 52,933,195 (GRCm39)	L229P	probably damaging	Het
Ankrd10	A	T	8: 11,669,304 (GRCm39)		probably null	Het
Arfgap3	C	T	15: 83,206,851 (GRCm39)	E246K	probably damaging	Het
Cadps	G	T	14: 12,376,675 (GRCm38)	T1274K	probably damaging	Het
Cd46	T	C	1: 194,768,451 (GRCm39)	T89A	probably benign	Het
Cylc1	A	C	X: 110,156,944 (GRCm39)		probably benign	Het
Dach2	T	A	X: 112,724,833 (GRCm39)	L492*	probably null	Het
Dlc1	T	C	8: 37,038,416 (GRCm39)		probably null	Het
Fanci	T	C	7: 79,093,747 (GRCm39)	V1033A	probably benign	Het
Fat4	T	C	3: 39,036,740 (GRCm39)	I3464T	possibly damaging	Het
Fus	A	G	7: 127,584,712 (GRCm39)		probably benign	Het
Garin5b	G	T	7: 4,760,839 (GRCm39)	N624K	possibly damaging	Het
Hectd3	G	T	4: 116,854,162 (GRCm39)	E271*	probably null	Het
Herc2	T	C	7: 55,818,715 (GRCm39)	L2802P	probably damaging	Het
Hk2	G	A	6: 82,715,314 (GRCm39)	R407C	probably damaging	Het
Josd2	T	C	7: 44,120,601 (GRCm39)	S71P	probably damaging	Het
Kif20b	A	G	19: 34,928,313 (GRCm39)	T1152A	probably benign	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nup188	T	C	2: 30,212,592 (GRCm39)		probably benign	Het
Or1i2	T	A	10: 78,447,792 (GRCm39)	I228F	probably benign	Het
Pank1	T	A	19: 34,798,535 (GRCm39)	I476F	probably damaging	Het
Pdcd6	A	G	13: 74,457,899 (GRCm39)	Y91H	probably damaging	Het
Pik3r3	T	G	4: 116,156,998 (GRCm39)	V393G	probably damaging	Het
Prx	C	T	7: 27,207,486 (GRCm39)	R48*	probably null	Het
Rbm5	A	G	9: 107,631,652 (GRCm39)	S222P	possibly damaging	Het
Rev3l	T	A	10: 39,704,482 (GRCm39)	I302N	probably benign	Het
Rnf139	T	C	15: 58,770,967 (GRCm39)	F331L	probably damaging	Het
Shisa4	G	T	1: 135,300,914 (GRCm39)	Q119K	probably damaging	Het
Shisa6	T	A	11: 66,108,839 (GRCm39)	E346V	probably damaging	Het
Slc6a3	A	T	13: 73,686,816 (GRCm39)	E61V	probably damaging	Het
Slc9a7	T	A	X: 20,157,608 (GRCm39)	M106L	probably benign	Het
Srek1	A	G	13: 103,900,468 (GRCm39)		probably benign	Het
Strc	G	A	2: 121,194,525 (GRCm39)	L1788F	possibly damaging	Het
Styk1	T	C	6: 131,277,523 (GRCm39)	S284G	probably benign	Het
Top2a	T	A	11: 98,909,625 (GRCm39)	T158S	probably benign	Het
Vangl1	C	T	3: 102,091,400 (GRCm39)	V229M	probably damaging	Het
Vsig1	A	G	X: 139,827,261 (GRCm39)	T137A	possibly damaging	Het

Other mutations in Poglut3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Poglut3	APN	9	53,309,330 (GRCm39)	intron	probably benign
IGL00334:Poglut3	APN	9	53,309,328 (GRCm39)	intron	probably benign
IGL01061:Poglut3	APN	9	53,299,887 (GRCm39)	unclassified	probably benign
IGL01114:Poglut3	APN	9	53,299,879 (GRCm39)	critical splice donor site	probably null
IGL02227:Poglut3	APN	9	53,299,779 (GRCm39)	missense	probably damaging	0.97
IGL02646:Poglut3	APN	9	53,295,551 (GRCm39)	missense	probably benign	0.06
IGL02795:Poglut3	APN	9	53,303,405 (GRCm39)	missense	probably damaging	1.00
R0830:Poglut3	UTSW	9	53,302,011 (GRCm39)	missense	probably damaging	1.00
R1256:Poglut3	UTSW	9	53,299,762 (GRCm39)	missense	possibly damaging	0.62
R1806:Poglut3	UTSW	9	53,307,150 (GRCm39)	missense	probably damaging	1.00
R5995:Poglut3	UTSW	9	53,307,195 (GRCm39)	missense	probably damaging	0.98
R6170:Poglut3	UTSW	9	53,311,042 (GRCm39)	missense	possibly damaging	0.91
R6348:Poglut3	UTSW	9	53,301,740 (GRCm39)	missense	probably damaging	0.97
R6833:Poglut3	UTSW	9	53,303,308 (GRCm39)	missense	possibly damaging	0.52
R7250:Poglut3	UTSW	9	53,301,821 (GRCm39)	nonsense	probably null
R7403:Poglut3	UTSW	9	53,301,741 (GRCm39)	missense	probably damaging	1.00
R8089:Poglut3	UTSW	9	53,307,262 (GRCm39)	missense	probably benign	0.04
R9112:Poglut3	UTSW	9	53,295,530 (GRCm39)	missense	probably damaging	1.00
R9478:Poglut3	UTSW	9	53,303,236 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02