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

Rumi, Ktelc1, 9630046K23Rik

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

38525137-38550258 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38529595 bp (GRCm38)

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
Ablim1	T	A	19: 57,215,853	R35S	probably benign	Het
Acacb	A	T	5: 114,229,851	I1637F	probably benign	Het
Adamts18	A	T	8: 113,773,077	C402S	probably damaging	Het
Adra2b	T	A	2: 127,364,482	D306E	probably benign	Het
Ammecr1l	C	T	18: 31,778,920	T263I	probably damaging	Het
Antxr1	T	C	6: 87,137,259	I509V	probably benign	Het
Bahcc1	A	G	11: 120,285,430	E1967G	probably damaging	Het
Brap	T	A	5: 121,679,342	Y337*	probably null	Het
Brca2	T	C	5: 150,569,138	V3206A	probably benign	Het
C330027C09Rik	A	G	16: 48,997,500	S78G	probably benign	Het
Cacna1e	A	T	1: 154,437,323	F1486I	probably damaging	Het
Cbx4	A	G	11: 119,082,190	Y120H	probably damaging	Het
Ccar2	T	A	14: 70,151,351	Q137L	probably benign	Het
Ceacam12	A	G	7: 18,069,374	D235G	probably damaging	Het
Celsr1	A	G	15: 85,904,014	V2679A	probably benign	Het
Champ1	C	T	8: 13,878,777	P312S	probably benign	Het
Chst5	A	G	8: 111,890,196	L264S	probably damaging	Het
Colec10	T	A	15: 54,410,789	F4L	probably benign	Het
Cyp2a4	G	A	7: 26,308,928	G165D	probably damaging	Het
Cyp2c29	G	C	19: 39,330,389	A438P	possibly damaging	Het
Dlat	A	G	9: 50,644,139		probably benign	Het
Dmxl2	A	G	9: 54,387,420	V2457A	possibly damaging	Het
Dnah7a	A	G	1: 53,457,785	M3104T	possibly damaging	Het
Dock8	C	T	19: 25,122,447	H645Y	probably damaging	Het
Ehbp1l1	T	C	19: 5,718,431	E948G	probably benign	Het
Eps8l2	C	T	7: 141,357,624	R384C	probably damaging	Het
Fam174a	A	T	1: 95,325,159	N162I	probably damaging	Het
Fbp2	T	A	13: 62,837,102	N335I	probably benign	Het
Foxred2	C	A	15: 77,947,144	G490C	probably damaging	Het
Fyttd1	T	G	16: 32,898,913	D200E	probably damaging	Het
Gdf15	A	T	8: 70,629,823	V211E	possibly damaging	Het
Gm13084	T	A	4: 143,810,468	Y431F	probably damaging	Het
Gm13178	C	T	4: 144,703,196	V408I	probably benign	Het
Gm5065	A	T	7: 5,359,624	T85S	probably benign	Het
Gm6214	A	G	3: 140,839,346		noncoding transcript	Het
Havcr2	A	G	11: 46,456,316	Y40C	probably damaging	Het
Htra1	T	G	7: 130,961,591	V184G	probably damaging	Het
Hydin	A	T	8: 110,490,676	I1399F	probably benign	Het
Igtp	T	C	11: 58,206,648	L215P	probably damaging	Het
Kctd1	T	C	18: 14,969,688	E812G	possibly damaging	Het
Lap3	T	C	5: 45,511,279		probably benign	Het
Lrp1b	C	A	2: 40,601,587	A223S	probably damaging	Het
Mtnr1b	A	T	9: 15,863,244	V173E	probably damaging	Het
Nat10	A	C	2: 103,721,839		probably benign	Het
Ndfip2	T	A	14: 105,294,857	V229E	probably damaging	Het
Nefh	G	A	11: 4,941,323	T432M	probably damaging	Het
Nfe2l3	A	G	6: 51,457,852	Y464C	probably damaging	Het
Nrip1	C	A	16: 76,293,953	A239S	probably damaging	Het
Olfml2b	A	G	1: 170,662,473	S221G	probably benign	Het
Orc4	G	T	2: 48,905,547	S389*	probably null	Het
P4hb	A	G	11: 120,571,650	S77P	probably damaging	Het
Pcyt2	T	C	11: 120,617,797		probably null	Het
Plagl1	T	C	10: 13,128,194		probably benign	Het
Rdh5	T	C	10: 128,914,221		probably null	Het
Rogdi	A	T	16: 5,013,394	L3*	probably null	Het
Skap1	T	C	11: 96,581,398	*166Q	probably null	Het
Slc38a4	A	G	15: 96,999,551	I461T	probably benign	Het
Snx31	A	C	15: 36,523,455	I360M	probably damaging	Het
Spata22	A	T	11: 73,336,247	K96*	probably null	Het
Strn3	A	T	12: 51,643,223		probably null	Het
Trip12	A	C	1: 84,759,163		probably benign	Het
Uggt1	A	T	1: 36,227,628		probably null	Het
Upk3a	A	C	15: 85,019,337	D79A	probably damaging	Het
Uts2r	A	T	11: 121,161,279	Y323F	probably benign	Het
Vmn2r1	A	T	3: 64,086,553	N107Y	probably damaging	Het
Vps13c	A	T	9: 67,902,839		probably null	Het
Wnt7b	A	G	15: 85,581,374		probably benign	Het
Zfp410	T	A	12: 84,337,611		probably null	Het

Other mutations in Poglut1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Poglut1	APN	16	38542916	missense	possibly damaging	0.96
R0646:Poglut1	UTSW	16	38529475	missense	probably damaging	0.99
R0799:Poglut1	UTSW	16	38534721	splice site	probably null
R2025:Poglut1	UTSW	16	38537905	critical splice donor site	probably null
R2054:Poglut1	UTSW	16	38534807	missense	probably damaging	1.00
R4514:Poglut1	UTSW	16	38549416	missense	probably benign	0.00
R4770:Poglut1	UTSW	16	38534757	missense	probably damaging	1.00
R5649:Poglut1	UTSW	16	38531811	missense	probably damaging	0.99
R6796:Poglut1	UTSW	16	38529610	missense	probably damaging	1.00
R7404:Poglut1	UTSW	16	38537922	missense	possibly damaging	0.88
R8028:Poglut1	UTSW	16	38534733	missense	probably damaging	0.99
R9227:Poglut1	UTSW	16	38534806	missense	possibly damaging	0.89
R9368:Poglut1	UTSW	16	38529488	missense	probably damaging	0.99
R9378:Poglut1	UTSW	16	38526771	missense	possibly damaging	0.90
R9408:Poglut1	UTSW	16	38526775	missense	probably benign
R9575:Poglut1	UTSW	16	38542923	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