Mutagenetix > Incidental Mutation

Incidental Mutation 'R5893:Poglut1'

457337

Institutional Source

Beutler Lab

Gene Symbol

Poglut1

Ensembl Gene

ENSMUSG00000034064

Gene Name

protein O-glucosyltransferase 1

Synonyms

Ktelc1, wsnp, 9630046K23Rik, Rumi

MMRRC Submission

044094-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38345499-38370620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38349957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 272 (R272Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038166 (fasta)

Gene Model

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

AlphaFold

Q8BYB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000036210
AA Change: R272Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038166
Gene: ENSMUSG00000034064
AA Change: R272Q

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

0.7914

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

95% (73/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	C	T	4: 144,429,766 (GRCm39)	V408I	probably benign	Het
Ablim1	T	A	19: 57,204,285 (GRCm39)	R35S	probably benign	Het
Acacb	A	T	5: 114,367,912 (GRCm39)	I1637F	probably benign	Het
Adamts18	A	T	8: 114,499,709 (GRCm39)	C402S	probably damaging	Het
Adra2b	T	A	2: 127,206,402 (GRCm39)	D306E	probably benign	Het
Ammecr1l	C	T	18: 31,911,973 (GRCm39)	T263I	probably damaging	Het
Antxr1	T	C	6: 87,114,241 (GRCm39)	I509V	probably benign	Het
Bahcc1	A	G	11: 120,176,256 (GRCm39)	E1967G	probably damaging	Het
Brap	T	A	5: 121,817,405 (GRCm39)	Y337*	probably null	Het
Brca2	T	C	5: 150,492,603 (GRCm39)	V3206A	probably benign	Het
Cacna1e	A	T	1: 154,313,069 (GRCm39)	F1486I	probably damaging	Het
Cbx4	A	G	11: 118,973,016 (GRCm39)	Y120H	probably damaging	Het
Ccar2	T	A	14: 70,388,800 (GRCm39)	Q137L	probably benign	Het
Ceacam12	A	G	7: 17,803,299 (GRCm39)	D235G	probably damaging	Het
Celsr1	A	G	15: 85,788,215 (GRCm39)	V2679A	probably benign	Het
Champ1	C	T	8: 13,928,777 (GRCm39)	P312S	probably benign	Het
Chst5	A	G	8: 112,616,828 (GRCm39)	L264S	probably damaging	Het
Cip2a	A	G	16: 48,817,863 (GRCm39)	S78G	probably benign	Het
Colec10	T	A	15: 54,274,185 (GRCm39)	F4L	probably benign	Het
Cyp2a4	G	A	7: 26,008,353 (GRCm39)	G165D	probably damaging	Het
Cyp2c29	G	C	19: 39,318,833 (GRCm39)	A438P	possibly damaging	Het
Dlat	A	G	9: 50,555,439 (GRCm39)		probably benign	Het
Dmxl2	A	G	9: 54,294,704 (GRCm39)	V2457A	possibly damaging	Het
Dnah7a	A	G	1: 53,496,944 (GRCm39)	M3104T	possibly damaging	Het
Dock8	C	T	19: 25,099,811 (GRCm39)	H645Y	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,459 (GRCm39)	E948G	probably benign	Het
Eps8l2	C	T	7: 140,937,537 (GRCm39)	R384C	probably damaging	Het
Fam174a	A	T	1: 95,252,884 (GRCm39)	N162I	probably damaging	Het
Fbp2	T	A	13: 62,984,916 (GRCm39)	N335I	probably benign	Het
Foxred2	C	A	15: 77,831,344 (GRCm39)	G490C	probably damaging	Het
Fyttd1	T	G	16: 32,719,283 (GRCm39)	D200E	probably damaging	Het
Gdf15	A	T	8: 71,082,473 (GRCm39)	V211E	possibly damaging	Het
Gm6214	A	G	3: 140,545,107 (GRCm39)		noncoding transcript	Het
Havcr2	A	G	11: 46,347,143 (GRCm39)	Y40C	probably damaging	Het
Htra1	T	G	7: 130,563,321 (GRCm39)	V184G	probably damaging	Het
Hydin	A	T	8: 111,217,308 (GRCm39)	I1399F	probably benign	Het
Igtp	T	C	11: 58,097,474 (GRCm39)	L215P	probably damaging	Het
Kctd1	T	C	18: 15,102,745 (GRCm39)	E812G	possibly damaging	Het
Lap3	T	C	5: 45,668,621 (GRCm39)		probably benign	Het
Lgalsl2	A	T	7: 5,362,623 (GRCm39)	T85S	probably benign	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Mtnr1b	A	T	9: 15,774,540 (GRCm39)	V173E	probably damaging	Het
Nat10	A	C	2: 103,552,184 (GRCm39)		probably benign	Het
Ndfip2	T	A	14: 105,532,291 (GRCm39)	V229E	probably damaging	Het
Nefh	G	A	11: 4,891,323 (GRCm39)	T432M	probably damaging	Het
Nfe2l3	A	G	6: 51,434,832 (GRCm39)	Y464C	probably damaging	Het
Nrip1	C	A	16: 76,090,841 (GRCm39)	A239S	probably damaging	Het
Olfml2b	A	G	1: 170,490,042 (GRCm39)	S221G	probably benign	Het
Orc4	G	T	2: 48,795,559 (GRCm39)	S389*	probably null	Het
P4hb	A	G	11: 120,462,476 (GRCm39)	S77P	probably damaging	Het
Pcyt2	T	C	11: 120,508,623 (GRCm39)		probably null	Het
Plagl1	T	C	10: 13,003,938 (GRCm39)		probably benign	Het
Pramel26	T	A	4: 143,537,038 (GRCm39)	Y431F	probably damaging	Het
Rdh5	T	C	10: 128,750,090 (GRCm39)		probably null	Het
Rogdi	A	T	16: 4,831,258 (GRCm39)	L3*	probably null	Het
Skap1	T	C	11: 96,472,224 (GRCm39)	*166Q	probably null	Het
Slc38a4	A	G	15: 96,897,432 (GRCm39)	I461T	probably benign	Het
Snx31	A	C	15: 36,523,601 (GRCm39)	I360M	probably damaging	Het
Spata22	A	T	11: 73,227,073 (GRCm39)	K96*	probably null	Het
Strn3	A	T	12: 51,690,006 (GRCm39)		probably null	Het
Trip12	A	C	1: 84,736,884 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,266,709 (GRCm39)		probably null	Het
Upk3a	A	C	15: 84,903,538 (GRCm39)	D79A	probably damaging	Het
Uts2r	A	T	11: 121,052,105 (GRCm39)	Y323F	probably benign	Het
Vmn2r1	A	T	3: 63,993,974 (GRCm39)	N107Y	probably damaging	Het
Vps13c	A	T	9: 67,810,121 (GRCm39)		probably null	Het
Wnt7b	A	G	15: 85,465,575 (GRCm39)		probably benign	Het
Zfp410	T	A	12: 84,384,385 (GRCm39)		probably null	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
R2054:Poglut1	UTSW	16	38,355,169 (GRCm39)	missense	probably damaging	1.00
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
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'- GTGGCTGTACTTAAGATGAGTGCT -3'
(R):5'- ACATACTGATGTGTCCTTGAAGA -3'

Sequencing Primer
(F):5'- GTACTTAAGATGAGTGCTTACTGGAC -3'
(R):5'- GTTGGTGTCAAGCTCACAAC -3'

Posted On

2017-02-15