Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01061:Poglut3'

51853

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: 0.119) question?

Stock #

IGL01061

Quality Score

Status

Chromosome

Chromosomal Location

53295325-53313167 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 53299887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037853] [ENSMUST00000214164]

AlphaFold

G5E897

Predicted Effect

probably benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000214164

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Ankfy1	T	A	11: 72,619,686 (GRCm39)	C186*	probably null	Het
Ankmy1	A	T	1: 92,798,696 (GRCm39)		probably benign	Het
B3gnt2	T	A	11: 22,786,042 (GRCm39)	E382V	probably damaging	Het
Carmil3	T	G	14: 55,736,087 (GRCm39)	S610A	possibly damaging	Het
Cfap70	T	C	14: 20,497,693 (GRCm39)		probably benign	Het
Chek1	G	A	9: 36,625,815 (GRCm39)	R277C	possibly damaging	Het
Cpb1	T	A	3: 20,320,680 (GRCm39)	I92L	probably benign	Het
Ddx56	C	T	11: 6,214,671 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,672,586 (GRCm39)	M887K	probably null	Het
Dnajc18	A	G	18: 35,813,995 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,596,653 (GRCm39)	V401A	probably damaging	Het
Dock4	A	C	12: 40,752,968 (GRCm39)	N434T	probably benign	Het
Dync2i1	C	A	12: 116,193,324 (GRCm39)	A543S	probably benign	Het
Ehbp1l1	A	T	19: 5,767,916 (GRCm39)	M1129K	probably benign	Het
Fam83a	A	T	15: 57,849,771 (GRCm39)	Y105F	possibly damaging	Het
Fnbp1	C	A	2: 30,973,054 (GRCm39)	D70Y	probably damaging	Het
Gtf3c2	A	G	5: 31,325,698 (GRCm39)	F414L	possibly damaging	Het
Kndc1	A	T	7: 139,502,610 (GRCm39)	E965D	probably benign	Het
Lrrc66	T	C	5: 73,772,842 (GRCm39)	K209E	probably benign	Het
Mcm3	A	T	1: 20,884,720 (GRCm39)	I261N	possibly damaging	Het
Mier3	T	A	13: 111,850,970 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,234,720 (GRCm39)	E669G	probably damaging	Het
Myh1	T	A	11: 67,108,688 (GRCm39)	M1368K	probably benign	Het
Nav1	A	G	1: 135,378,368 (GRCm39)	I1653T	probably damaging	Het
Nuak1	C	A	10: 84,210,998 (GRCm39)	L363F	probably damaging	Het
Or14j2	A	G	17: 37,885,795 (GRCm39)	I173T	possibly damaging	Het
Or52b1	A	G	7: 104,978,589 (GRCm39)	I270T	possibly damaging	Het
Or9i1	T	C	19: 13,840,069 (GRCm39)	V304A	possibly damaging	Het
Pkd1l3	A	G	8: 110,365,338 (GRCm39)	H1153R	probably damaging	Het
Ppp6r2	A	T	15: 89,170,218 (GRCm39)		probably benign	Het
Prelid3b	T	C	2: 174,307,614 (GRCm39)		probably null	Het
Prrt3	T	C	6: 113,474,731 (GRCm39)	K164E	possibly damaging	Het
Rab22a	T	A	2: 173,530,003 (GRCm39)	D60E	probably damaging	Het
Rab32	A	G	10: 10,433,618 (GRCm39)	L72P	probably damaging	Het
Samm50	A	G	15: 84,086,455 (GRCm39)	T225A	probably benign	Het
Snx27	T	A	3: 94,436,287 (GRCm39)		probably benign	Het
Taf7	G	A	18: 37,776,486 (GRCm39)	T27M	probably damaging	Het
Tgm5	A	T	2: 120,901,977 (GRCm39)	C231S	probably benign	Het
Tll1	A	G	8: 64,491,488 (GRCm39)		probably null	Het
Tmem150a	A	G	6: 72,334,101 (GRCm39)	D61G	probably damaging	Het
Ttll8	G	A	15: 88,801,453 (GRCm39)	R412C	possibly damaging	Het
Ubr3	T	A	2: 69,813,569 (GRCm39)	D1293E	probably benign	Het
Utp20	T	C	10: 88,606,566 (GRCm39)	N1669D	probably benign	Het
Vmn2r28	A	G	7: 5,491,183 (GRCm39)	W355R	probably damaging	Het
Yars2	C	T	16: 16,124,406 (GRCm39)	R338*	probably null	Het
Zfhx2	T	A	14: 55,311,339 (GRCm39)	N452Y	possibly damaging	Het
Zfp180	T	G	7: 23,804,170 (GRCm39)	D196E	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
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
IGL03029:Poglut3	APN	9	53,295,588 (GRCm39)	critical splice donor site	probably null
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

2013-06-21