Mutagenetix > Incidental Mutation

Incidental Mutation 'R1256:Poglut3'

151460

Institutional Source

Beutler Lab

Gene Symbol

Poglut3

Ensembl Gene

ENSMUSG00000034487

Gene Name

protein O-glucosyltransferase 3

Synonyms

4833410J10Rik, Kdelc2, 2010004J24Rik

MMRRC Submission

039323-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R1256 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53295325-53313167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 53299762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 90 (R90S)

Ref Sequence

ENSEMBL: ENSMUSP00000039313 (fasta)

Gene Model

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

AlphaFold

G5E897

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037853
AA Change: R90S

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039313
Gene: ENSMUSG00000034487
AA Change: R90S

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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Apaf1	A	G	10: 90,894,268 (GRCm39)	Y456H	probably benign	Het
Arhgef11	A	G	3: 87,634,442 (GRCm39)	N791S	possibly damaging	Het
Brat1	A	G	5: 140,695,962 (GRCm39)	Q66R	possibly damaging	Het
Capn10	C	T	1: 92,874,668 (GRCm39)	T633M	probably damaging	Het
Ccdc186	G	T	19: 56,786,053 (GRCm39)	L661I	probably benign	Het
Cln3	A	G	7: 126,182,208 (GRCm39)	S4P	probably damaging	Het
Cnot10	G	T	9: 114,439,749 (GRCm39)	S520Y	probably damaging	Het
Csmd1	A	T	8: 16,129,978 (GRCm39)	F1715I	probably damaging	Het
Ezh2	A	T	6: 47,518,789 (GRCm39)	C545*	probably null	Het
Hivep1	C	T	13: 42,335,307 (GRCm39)	S2282F	probably damaging	Het
Jag2	T	C	12: 112,878,039 (GRCm39)	E564G	possibly damaging	Het
Kcnj16	A	G	11: 110,916,262 (GRCm39)	H308R	probably damaging	Het
Magi3	C	T	3: 103,935,126 (GRCm39)	V936I	probably benign	Het
Mcu	G	T	10: 59,290,790 (GRCm39)	A279E	probably damaging	Het
Msln	A	G	17: 25,973,157 (GRCm39)	C13R	probably damaging	Het
Nes	A	G	3: 87,883,883 (GRCm39)	D714G	probably benign	Het
Nif3l1	T	A	1: 58,494,808 (GRCm39)	V259D	probably damaging	Het
Or4c127	A	T	2: 89,832,911 (GRCm39)	M54L	possibly damaging	Het
Or5k14	A	C	16: 58,693,206 (GRCm39)	Y102*	probably null	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Pcdhb9	A	G	18: 37,536,169 (GRCm39)	D721G	possibly damaging	Het
Pepd	A	C	7: 34,620,917 (GRCm39)	T61P	possibly damaging	Het
Pkd1l2	C	T	8: 117,746,282 (GRCm39)		probably null	Het
Psip1	A	G	4: 83,392,604 (GRCm39)	S102P	probably benign	Het
Ralgapa1	T	C	12: 55,809,446 (GRCm39)	E443G	possibly damaging	Het
Rnf20	A	G	4: 49,638,230 (GRCm39)	D114G	probably benign	Het
Schip1	A	T	3: 68,402,375 (GRCm39)	I151F	probably benign	Het
Smarca2	A	G	19: 26,659,373 (GRCm39)	I888V	probably benign	Het
Smg1	T	C	7: 117,802,310 (GRCm39)	T263A	probably damaging	Het
Spn	T	C	7: 126,735,445 (GRCm39)	K354R	possibly damaging	Het
Sspo	G	A	6: 48,434,573 (GRCm39)	A1022T	probably damaging	Het
Strn	A	C	17: 78,972,046 (GRCm39)		probably null	Het
Tstd3	T	C	4: 21,759,627 (GRCm39)	I79M	probably damaging	Het
Txnl4a	A	G	18: 80,250,487 (GRCm39)	I28V	probably benign	Het
Uty	T	C	Y: 1,134,884 (GRCm39)	D928G	probably damaging	Het
Vps26c	A	G	16: 94,313,225 (GRCm39)	L22P	probably damaging	Het
Vsx2	T	A	12: 84,623,085 (GRCm39)	L163Q	probably 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
R0830:Poglut3	UTSW	9	53,302,011 (GRCm39)	missense	probably damaging	1.00
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'- AAGGATGGACCACACATAGTTGCTG -3'
(R):5'- AGCCCTTCTGAAAAGCAAGTATCCC -3'

Sequencing Primer
(F):5'- TCTTCCAGGCTGAAATGAGC -3'
(R):5'- CACTGCCATGAAGGATCTCT -3'

Posted On

2014-01-29