Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02795:Poglut3'

359960

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 #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

53295325-53313167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53303405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 99 (D99G)

Ref Sequence

ENSEMBL: ENSMUSP00000149383 (fasta)

Gene Model

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

AlphaFold

G5E897

Predicted Effect

probably damaging
Transcript: ENSMUST00000037853
AA Change: D288G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039313
Gene: ENSMUSG00000034487
AA Change: D288G

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 damaging
Transcript: ENSMUST00000214164
AA Change: D99G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,327,907 (GRCm39)	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,252,468 (GRCm39)		probably benign	Het
Acvr1	A	G	2: 58,352,964 (GRCm39)	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,271,191 (GRCm39)	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,644,786 (GRCm39)		probably null	Het
Btnl9	A	T	11: 49,065,694 (GRCm39)		probably benign	Het
Dbx1	T	A	7: 49,286,325 (GRCm39)	I47F	probably benign	Het
Dennd2b	T	C	7: 109,155,571 (GRCm39)	Y393C	probably damaging	Het
Dnaja3	A	G	16: 4,507,937 (GRCm39)		probably benign	Het
Dnmt1	T	C	9: 20,838,407 (GRCm39)	S220G	probably benign	Het
Dock9	A	T	14: 121,877,390 (GRCm39)	M451K	probably benign	Het
Eml3	A	G	19: 8,911,142 (GRCm39)	Y257C	probably benign	Het
Fam3d	T	A	14: 8,355,497 (GRCm38)	M113L	probably benign	Het
Fbxw19	C	A	9: 109,324,886 (GRCm39)	M10I	possibly damaging	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Galnt5	C	A	2: 57,917,883 (GRCm39)	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331 (GRCm39)	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,867,484 (GRCm39)		probably benign	Het
Gpr45	C	T	1: 43,071,653 (GRCm39)	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,497,102 (GRCm39)	S302L	probably damaging	Het
Hrg	T	C	16: 22,776,303 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,045,889 (GRCm39)		probably null	Het
Lgr4	T	C	2: 109,838,555 (GRCm39)		probably benign	Het
Lrrc9	C	T	12: 72,525,542 (GRCm39)	T830M	probably damaging	Het
Mdga2	T	C	12: 66,736,206 (GRCm39)	T341A	probably benign	Het
Mms19	C	T	19: 41,940,845 (GRCm39)		probably null	Het
Nectin1	A	G	9: 43,714,849 (GRCm39)	S362G	probably benign	Het
Nlrc3	G	T	16: 3,783,149 (GRCm39)	H87N	probably damaging	Het
Or1e17	G	A	11: 73,831,755 (GRCm39)	V228I	probably benign	Het
Or2ah1	T	A	2: 85,653,856 (GRCm39)	C180*	probably null	Het
Or4b13	A	G	2: 90,082,906 (GRCm39)	L142P	probably damaging	Het
Or52a20	T	A	7: 103,366,090 (GRCm39)	F96L	probably benign	Het
Or5h17	G	T	16: 58,820,640 (GRCm39)	L197F	possibly damaging	Het
Pcsk1	G	T	13: 75,260,739 (GRCm39)	G321C	probably damaging	Het
Prrc2c	G	T	1: 162,541,868 (GRCm39)	P374T	probably benign	Het
Rusc1	A	T	3: 88,999,257 (GRCm39)	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,610,076 (GRCm39)	N4250S	probably benign	Het
Scara5	A	C	14: 65,968,129 (GRCm39)	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,857,447 (GRCm39)	K595R	probably benign	Het
Serpinb6a	A	C	13: 34,115,576 (GRCm39)	L15R	probably damaging	Het
Setdb1	A	T	3: 95,234,684 (GRCm39)	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,262,922 (GRCm39)		probably benign	Het
Slc22a30	C	T	19: 8,378,259 (GRCm39)	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,958,003 (GRCm39)	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,395,782 (GRCm39)	D611V	probably benign	Het
Spag6	G	T	2: 18,737,894 (GRCm39)	V255F	probably benign	Het
Svep1	C	A	4: 58,123,223 (GRCm39)	G698W	probably damaging	Het
Syne2	T	C	12: 76,013,323 (GRCm39)	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,373,524 (GRCm39)	E58G	possibly damaging	Het
Trim24	A	T	6: 37,896,324 (GRCm39)	E260D	probably damaging	Het
Ugt2b1	T	A	5: 87,065,560 (GRCm39)	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,192,287 (GRCm39)	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,305,539 (GRCm39)	Q74R	probably benign	Het
Vps25	A	G	11: 101,146,916 (GRCm39)	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,339,480 (GRCm39)	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,970,505 (GRCm39)	E273G	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
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

2015-12-18