Mutagenetix > Incidental Mutation

Incidental Mutation 'R2054:Poglut1'

226545

Institutional Source

Beutler Lab

Gene Symbol

Poglut1

Ensembl Gene

ENSMUSG00000034064

Gene Name

protein O-glucosyltransferase 1

Synonyms

Ktelc1, wsnp, 9630046K23Rik, Rumi

MMRRC Submission

040059-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38345499-38370620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38355169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 219 (D219G)

Ref Sequence

ENSEMBL: ENSMUSP00000038166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036210]

AlphaFold

Q8BYB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000036210
AA Change: D219G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038166
Gene: ENSMUSG00000034064
AA Change: D219G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CAP10	121	373	6.69e-102	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153187

Meta Mutation Damage Score

0.4485

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: This gene encodes a protein that can catalyze transfer of either UDP-glucose or UDP-xylose to epidermal growth factor (EGF) repeats, such as those found in Notch. Loss of this gene product results in embryonic lethality. Embryos have neural plate defects, heart defects, and truncations of their posterior axis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality during organogenesis, embryonic growth retardation, caudal body truncation, and severe defects in neural tube development, somitogenesis, cardiogenesis, and vascular remodeling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,562 (GRCm39)	C94S	possibly damaging	Het
A930011G23Rik	T	C	5: 99,375,914 (GRCm39)	Y432C	probably benign	Het
Abtb2	A	G	2: 103,535,462 (GRCm39)	D543G	probably benign	Het
Adam9	A	T	8: 25,481,310 (GRCm39)	V318E	probably damaging	Het
Aim2	T	C	1: 173,291,548 (GRCm39)	F318L	probably damaging	Het
Apob	A	T	12: 8,063,134 (GRCm39)	D3872V	probably damaging	Het
Atat1	T	A	17: 36,212,261 (GRCm39)	R323W	probably null	Het
Atp2b4	T	C	1: 133,642,907 (GRCm39)	D1066G	probably benign	Het
Bltp1	A	G	3: 37,002,002 (GRCm39)	T1316A	probably benign	Het
Caskin2	T	C	11: 115,697,127 (GRCm39)		probably benign	Het
Cblif	G	A	19: 11,736,370 (GRCm39)	V314I	probably benign	Het
Ccdc54	T	A	16: 50,410,987 (GRCm39)	N93I	probably damaging	Het
Ccnd1	A	C	7: 144,491,128 (GRCm39)	D159E	possibly damaging	Het
Cnot1	A	C	8: 96,466,469 (GRCm39)	S1589R	possibly damaging	Het
Copa	T	A	1: 171,946,524 (GRCm39)	Y980*	probably null	Het
Defb19	A	G	2: 152,418,090 (GRCm39)	I82T	possibly damaging	Het
Elapor2	C	A	5: 9,513,030 (GRCm39)	T1008K	possibly damaging	Het
Fiz1	G	A	7: 5,011,235 (GRCm39)	R428C	probably damaging	Het
Fnip2	A	T	3: 79,479,772 (GRCm39)		probably benign	Het
Gabrb3	G	A	7: 57,474,241 (GRCm39)	G408S	probably benign	Het
Hao1	C	T	2: 134,340,178 (GRCm39)		silent	Het
Hecw1	T	A	13: 14,471,998 (GRCm39)	M557L	probably damaging	Het
Itch	A	T	2: 155,052,496 (GRCm39)	I699F	probably damaging	Het
Kmt2a	T	C	9: 44,734,671 (GRCm39)		probably benign	Het
Leng8	T	G	7: 4,147,289 (GRCm39)	Y562*	probably null	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrp1b	A	T	2: 40,587,494 (GRCm39)	N151K	unknown	Het
Lrrc71	T	C	3: 87,649,980 (GRCm39)	E316G	probably damaging	Het
Mgat5	A	G	1: 127,325,344 (GRCm39)	N404D	probably damaging	Het
Mrps26	C	A	2: 130,406,087 (GRCm39)	T100K	probably benign	Het
Mtor	A	G	4: 148,547,309 (GRCm39)	T431A	probably benign	Het
Mtor	T	A	4: 148,550,482 (GRCm39)	C713S	probably benign	Het
Mug2	A	G	6: 122,054,451 (GRCm39)	K1077E	probably damaging	Het
Nbas	A	G	12: 13,524,207 (GRCm39)	T1688A	probably benign	Het
Nek2	T	C	1: 191,553,764 (GRCm39)	S3P	possibly damaging	Het
Nell2	T	C	15: 95,332,990 (GRCm39)	T190A	probably benign	Het
Npr2	A	T	4: 43,646,560 (GRCm39)	N636I	probably damaging	Het
Orc3	A	T	4: 34,584,846 (GRCm39)	I453K	probably damaging	Het
Pcnx1	A	G	12: 81,980,448 (GRCm39)	H865R	probably benign	Het
Pex1	T	C	5: 3,653,341 (GRCm39)	V80A	possibly damaging	Het
Phka2	T	A	X: 159,337,323 (GRCm39)	D424E	probably damaging	Het
Pkd1	C	T	17: 24,793,770 (GRCm39)	T1819I	probably benign	Het
Ppargc1a	T	C	5: 51,631,130 (GRCm39)	I500V	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Pygm	C	G	19: 6,438,185 (GRCm39)	N163K	probably benign	Het
Qrich1	T	A	9: 108,436,469 (GRCm39)	N722K	possibly damaging	Het
Reep6	T	A	10: 80,166,156 (GRCm39)	C104*	probably null	Het
Rfx8	A	G	1: 39,724,719 (GRCm39)	V214A	possibly damaging	Het
Sis	G	A	3: 72,820,570 (GRCm39)	T1398I	probably benign	Het
Skint5	A	G	4: 113,676,360 (GRCm39)		probably null	Het
Slc7a14	A	G	3: 31,291,511 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,462,948 (GRCm39)	M646K	probably benign	Het
Snx29	A	G	16: 11,449,356 (GRCm39)	N165S	probably damaging	Het
Supt6	T	A	11: 78,115,187 (GRCm39)		probably benign	Het
Tead4	G	T	6: 128,247,925 (GRCm39)	S37R	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tex56	T	A	13: 35,108,574 (GRCm39)	Y19N	probably damaging	Het
Tff2	T	C	17: 31,362,199 (GRCm39)	K40E	probably benign	Het
Traip	C	T	9: 107,840,118 (GRCm39)	T265M	probably benign	Het
Trim47	T	C	11: 115,999,109 (GRCm39)	T256A	probably benign	Het
Trpm1	A	G	7: 63,890,303 (GRCm39)	M853V	possibly damaging	Het
Tti1	G	T	2: 157,849,365 (GRCm39)	Q625K	possibly damaging	Het
Ube2n	A	G	10: 95,377,128 (GRCm39)	N31S	probably damaging	Het
Vmn2r17	T	C	5: 109,600,352 (GRCm39)	M550T	probably damaging	Het
Zfp512	T	A	5: 31,622,793 (GRCm39)	N31K	probably benign	Het
Zfp64	A	G	2: 168,767,728 (GRCm39)	V628A	probably damaging	Het

Other mutations in Poglut1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Poglut1	APN	16	38,363,278 (GRCm39)	missense	possibly damaging	0.96
R0646:Poglut1	UTSW	16	38,349,837 (GRCm39)	missense	probably damaging	0.99
R0799:Poglut1	UTSW	16	38,355,083 (GRCm39)	splice site	probably null
R2025:Poglut1	UTSW	16	38,358,267 (GRCm39)	critical splice donor site	probably null
R4514:Poglut1	UTSW	16	38,369,778 (GRCm39)	missense	probably benign	0.00
R4770:Poglut1	UTSW	16	38,355,119 (GRCm39)	missense	probably damaging	1.00
R5649:Poglut1	UTSW	16	38,352,173 (GRCm39)	missense	probably damaging	0.99
R5893:Poglut1	UTSW	16	38,349,957 (GRCm39)	missense	probably damaging	0.99
R6796:Poglut1	UTSW	16	38,349,972 (GRCm39)	missense	probably damaging	1.00
R7404:Poglut1	UTSW	16	38,358,284 (GRCm39)	missense	possibly damaging	0.88
R8028:Poglut1	UTSW	16	38,355,095 (GRCm39)	missense	probably damaging	0.99
R9227:Poglut1	UTSW	16	38,355,168 (GRCm39)	missense	possibly damaging	0.89
R9368:Poglut1	UTSW	16	38,349,850 (GRCm39)	missense	probably damaging	0.99
R9378:Poglut1	UTSW	16	38,347,133 (GRCm39)	missense	possibly damaging	0.90
R9408:Poglut1	UTSW	16	38,347,137 (GRCm39)	missense	probably benign
R9575:Poglut1	UTSW	16	38,363,285 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- ACACCATCGCAGGGAATCTG -3'
(R):5'- TAGCCTGAGCAACCAAGATGC -3'

Sequencing Primer
(F):5'- TCTCACCACTGAGAGGAAGC -3'
(R):5'- AAGATGCTGCACTACCCAGGG -3'

Posted On

2014-09-17