Mutagenetix > Incidental Mutation

Incidental Mutation 'R0830:Poglut3'

77495

Institutional Source

Beutler Lab

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 #

R0830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53295325-53313167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 53302011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 32 (L32R)

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: L221R

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

SMART Domains

Protein: ENSMUSP00000039313
Gene: ENSMUSG00000034487
AA Change: L221R

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: L32R

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.0%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,624 (GRCm39)	R145H	probably damaging	Het
Adam26a	C	T	8: 44,021,439 (GRCm39)	V684I	probably benign	Het
Alk	T	C	17: 72,910,195 (GRCm39)	I170M	probably benign	Het
Apc2	T	C	10: 80,151,239 (GRCm39)	Y2069H	probably damaging	Het
Aspm	A	G	1: 139,401,992 (GRCm39)	T1219A	probably damaging	Het
Bnip1	T	C	17: 27,008,679 (GRCm39)	S94P	probably benign	Het
Cftr	A	G	6: 18,270,224 (GRCm39)	I805V	probably benign	Het
Col25a1	T	A	3: 130,378,375 (GRCm39)	D609E	probably damaging	Het
Cplane1	T	A	15: 8,276,669 (GRCm39)	V2771E	unknown	Het
Cyp2g1	A	G	7: 26,514,216 (GRCm39)	K274R	probably benign	Het
D5Ertd579e	G	A	5: 36,771,101 (GRCm39)	T1098I	probably damaging	Het
Ddx39a	T	A	8: 84,446,452 (GRCm39)	C74S	possibly damaging	Het
E2f3	C	T	13: 30,169,543 (GRCm39)	A37T	probably benign	Het
Emilin2	A	G	17: 71,580,815 (GRCm39)	M637T	probably benign	Het
Exosc7	T	C	9: 122,948,358 (GRCm39)	L93P	probably benign	Het
F2	T	C	2: 91,460,545 (GRCm39)	E316G	probably benign	Het
Fat4	A	C	3: 39,053,258 (GRCm39)	Q4084P	probably benign	Het
Flywch1	T	C	17: 23,981,344 (GRCm39)	K160E	probably benign	Het
Foxi2	A	G	7: 135,013,459 (GRCm39)	T230A	probably benign	Het
Fthl17a	A	G	X: 84,313,679 (GRCm39)	N154S	possibly damaging	Het
Hykk	G	A	9: 54,844,601 (GRCm39)	R222Q	probably damaging	Het
Il18rap	T	A	1: 40,582,150 (GRCm39)	V357E	probably damaging	Het
Ing4	A	G	6: 125,020,923 (GRCm39)	E15G	probably damaging	Het
Irak1	T	C	X: 73,060,189 (GRCm39)	D679G	probably damaging	Het
Itga1	T	C	13: 115,143,568 (GRCm39)	E321G	probably benign	Het
Nudt1	T	A	5: 140,321,076 (GRCm39)		probably null	Het
Nup58	A	G	14: 60,480,931 (GRCm39)	F138S	probably damaging	Het
Or10al6	A	T	17: 38,082,804 (GRCm39)	M87L	probably damaging	Het
Or2a5	G	T	6: 42,873,532 (GRCm39)	W49L	probably benign	Het
Pllp	T	C	8: 95,406,103 (GRCm39)	Y60C	probably damaging	Het
Pnpla7	T	C	2: 24,887,267 (GRCm39)	V37A	probably damaging	Het
Psme4	A	G	11: 30,757,797 (GRCm39)	H310R	possibly damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Sash1	C	T	10: 8,605,673 (GRCm39)	V906M	probably benign	Het
Scn1a	A	T	2: 66,130,128 (GRCm39)	I1212K	probably damaging	Het
Stbd1	A	T	5: 92,752,989 (GRCm39)	S160C	probably benign	Het
Tex29	T	C	8: 11,904,157 (GRCm39)	V99A	probably benign	Het
Tg	A	T	15: 66,596,993 (GRCm39)	N79I	probably damaging	Het
Tie1	T	C	4: 118,339,860 (GRCm39)	D389G	probably damaging	Het
Vmn1r178	A	G	7: 23,593,452 (GRCm39)	T167A	possibly damaging	Het
Xkr4	C	T	1: 3,740,968 (GRCm39)	G202S	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
IGL03029:Poglut3	APN	9	53,295,588 (GRCm39)	critical splice donor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- TACTGTGACTGCCCGGAAGATGAC -3'
(R):5'- AAGGTAGGAGACTCACGCTCGTTC -3'

Sequencing Primer
(F):5'- AGGAAACCCTGTCTTGTCCAG -3'
(R):5'- CTGGAACACATTTCTGAGCCC -3'

Posted On

2013-10-16