Mutagenetix > Incidental Mutation

Incidental Mutation 'R5995:Poglut3'

481070

Institutional Source

Beutler Lab

Gene Symbol

Poglut3

Ensembl Gene

ENSMUSG00000034487

Gene Name

protein O-glucosyltransferase 3

Synonyms

4833410J10Rik, Kdelc2, 2010004J24Rik

MMRRC Submission

044174-MU

Accession Numbers

Essential gene?

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

Stock #

R5995 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53295325-53313167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53307195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 380 (Y380H)

Ref Sequence

ENSEMBL: ENSMUSP00000039313 (fasta)

Gene Model

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

AlphaFold

G5E897

Predicted Effect

probably damaging
Transcript: ENSMUST00000037853
AA Change: Y380H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039313
Gene: ENSMUSG00000034487
AA Change: Y380H

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

noncoding transcript
Transcript: ENSMUST00000184489

Predicted Effect

probably benign
Transcript: ENSMUST00000214164

Meta Mutation Damage Score

0.5325

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Adgrb2	C	A	4: 129,910,896 (GRCm39)	A1104E	probably damaging	Het
Adgrv1	A	G	13: 81,614,378 (GRCm39)	V4005A	probably benign	Het
Bend6	T	C	1: 33,917,520 (GRCm39)		probably null	Het
Brwd1	A	T	16: 95,865,987 (GRCm39)	V265E	probably damaging	Het
Ccdc96	A	G	5: 36,643,718 (GRCm39)	I575V	probably damaging	Het
Cd109	A	T	9: 78,607,561 (GRCm39)	I1094L	probably benign	Het
Cd44	A	G	2: 102,692,015 (GRCm39)	V91A	probably damaging	Het
Cdv3	C	G	9: 103,241,202 (GRCm39)	G122R	probably damaging	Het
Ces2c	T	A	8: 105,577,533 (GRCm39)	V272D	possibly damaging	Het
Colgalt1	T	A	8: 72,075,754 (GRCm39)	M467K	probably damaging	Het
Crtam	G	A	9: 40,905,836 (GRCm39)	T31M	possibly damaging	Het
Cyp7a1	C	T	4: 6,272,371 (GRCm39)	V281M	possibly damaging	Het
Dnah7a	A	T	1: 53,659,829 (GRCm39)	N726K	probably benign	Het
Dok6	T	C	18: 89,439,142 (GRCm39)	E232G	possibly damaging	Het
Gm12185	T	C	11: 48,806,540 (GRCm39)	E217G	probably benign	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gria1	A	T	11: 57,180,111 (GRCm39)	Y618F	probably damaging	Het
H2-T22	A	G	17: 36,352,377 (GRCm39)	Y183H	probably benign	Het
Hace1	A	T	10: 45,546,487 (GRCm39)	I374L	probably benign	Het
Hif3a	T	A	7: 16,787,694 (GRCm39)	T132S	probably benign	Het
Hoxa3	T	A	6: 52,147,263 (GRCm39)		probably benign	Het
Il27	A	C	7: 126,188,535 (GRCm39)		probably benign	Het
Klhdc1	T	C	12: 69,297,548 (GRCm39)	Y40H	probably damaging	Het
Klhl33	T	G	14: 51,130,108 (GRCm39)	E462A	possibly damaging	Het
Myh10	T	C	11: 68,705,809 (GRCm39)	I1979T	probably benign	Het
Nfkbil1	G	T	17: 35,439,774 (GRCm39)	F246L	probably benign	Het
Nlrp1b	A	T	11: 71,072,572 (GRCm39)	F424I	probably damaging	Het
Nod1	A	G	6: 54,921,539 (GRCm39)	Y260H	probably damaging	Het
Ofcc1	A	G	13: 40,433,898 (GRCm39)	L69P	probably damaging	Het
Onecut2	G	T	18: 64,474,619 (GRCm39)	R390L	probably damaging	Het
Oprm1	A	C	10: 6,782,520 (GRCm39)	M388L	probably benign	Het
Or10q3	A	T	19: 11,848,226 (GRCm39)	I118N	possibly damaging	Het
Or1e26	T	C	11: 73,480,076 (GRCm39)	I163V	probably benign	Het
Or1o3	C	A	17: 37,574,539 (GRCm39)	Q5H	probably benign	Het
Or5aq1	T	C	2: 86,966,200 (GRCm39)	N155S	probably damaging	Het
Or5b96	A	C	19: 12,867,961 (GRCm39)		probably null	Het
Or8g53	A	G	9: 39,683,988 (GRCm39)	V36A	probably benign	Het
Pcdhgc5	T	A	18: 37,954,113 (GRCm39)	Y462*	probably null	Het
Pex1	T	A	5: 3,657,704 (GRCm39)	M425K	possibly damaging	Het
Plec	A	T	15: 76,070,105 (GRCm39)	Y1001N	probably damaging	Het
Pou2f2	T	G	7: 24,796,869 (GRCm39)	K236Q	probably damaging	Het
Rbm20	G	A	19: 53,839,698 (GRCm39)	E896K	possibly damaging	Het
Sh3tc2	T	A	18: 62,123,081 (GRCm39)	L614Q	probably damaging	Het
Skint5	T	A	4: 113,751,029 (GRCm39)	I339F	unknown	Het
Slc2a7	T	C	4: 150,252,797 (GRCm39)	I479T	probably damaging	Het
Snrk	A	G	9: 121,986,288 (GRCm39)	N219S	probably damaging	Het
Supt20	T	C	3: 54,616,474 (GRCm39)	S245P	probably damaging	Het
Ttn	A	G	2: 76,591,636 (GRCm39)	I21011T	probably damaging	Het
Vmn2r11	T	A	5: 109,194,921 (GRCm39)	I802F	probably damaging	Het
Vmn2r92	T	C	17: 18,389,213 (GRCm39)		probably null	Het
Ythdc2	T	A	18: 45,019,320 (GRCm39)	M1363K	probably damaging	Het
Zan	T	C	5: 137,377,071 (GRCm39)		probably benign	Het
Zfp521	C	A	18: 13,850,681 (GRCm39)	C1261F	probably damaging	Het
Zfp980	A	T	4: 145,428,479 (GRCm39)	K403*	probably null	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
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
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'- GCTGTTAAAGGCTGGCTAAC -3'
(R):5'- TATCCTAATGGAACTCAGTTTCCC -3'

Sequencing Primer
(F):5'- AGGCTGGCTAACATTTTATACAAAG -3'
(R):5'- CGAGGTTTCTCTTAATGGGA -3'

Posted On

2017-06-26