Mutagenetix > Incidental Mutation

Incidental Mutation 'R7108:Dpagt1'

551332

Institutional Source

Beutler Lab

Gene Symbol

Dpagt1

Ensembl Gene

ENSMUSG00000032123

Gene Name

dolichyl-phosphate (UDP-N-acetylglucosamine) acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)

Synonyms

Gnpta, Dpagt2, GPT

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7108 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44326019-44333900 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 44327021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054708] [ENSMUST00000215050] [ENSMUST00000215248]

AlphaFold

P42867

Predicted Effect

probably benign
Transcript: ENSMUST00000054708

SMART Domains

Protein: ENSMUSP00000056282
Gene: ENSMUSG00000032123

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	60	82	N/A	INTRINSIC
Pfam:Glycos_transf_4	100	272	1.1e-38	PFAM
transmembrane domain	277	299	N/A	INTRINSIC
transmembrane domain	381	403	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215050

Predicted Effect

probably benign
Transcript: ENSMUST00000215248

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene display an embryonic lethal phenotype due to widespread cell death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,880,924	S411P	probably damaging	Het
4930503L19Rik	A	T	18: 70,468,476	Y112N	probably benign	Het
Abcd2	A	T	15: 91,191,274	V112E	probably benign	Het
Acadm	A	T	3: 153,925,800	Y353*	probably null	Het
Adra2c	A	G	5: 35,279,998	D38G	probably benign	Het
Ankrd10	C	T	8: 11,612,624	G370R	probably damaging	Het
Arfgef2	T	A	2: 166,873,608	N1324K	possibly damaging	Het
Atp6v1b2	A	G	8: 69,102,501	T172A	probably damaging	Het
BC003331	T	C	1: 150,382,290	Y198C	probably benign	Het
Bloc1s1	T	A	10: 128,922,723	K22M	possibly damaging	Het
Brpf3	A	G	17: 28,817,125	T599A	probably benign	Het
Cacna1e	TTCCAGTCTC	TTC	1: 154,468,995		probably null	Het
Casc1	G	A	6: 145,185,865	Q351*	probably null	Het
Ccdc186	T	C	19: 56,798,760	D592G	probably damaging	Het
Cfap161	A	T	7: 83,793,310	D98E	possibly damaging	Het
Cfi	G	A	3: 129,875,016	V564M	probably damaging	Het
Cilp2	T	A	8: 69,881,129	Q1073L	probably damaging	Het
Cox6b1	A	G	7: 30,623,504	C40R	possibly damaging	Het
Cyp3a59	A	T	5: 146,096,333	M172L	probably benign	Het
Cyth1	T	C	11: 118,182,913	D198G	probably damaging	Het
Daam2	T	C	17: 49,460,674	D963G	probably damaging	Het
Ddi2	A	T	4: 141,705,937	D209E	probably benign	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Drc3	T	A	11: 60,370,554	F177Y	probably benign	Het
Dsg2	T	C	18: 20,601,863	V966A	probably damaging	Het
E430018J23Rik	A	G	7: 127,391,523	S431P	probably benign	Het
E4f1	A	G	17: 24,444,578	V633A	probably damaging	Het
Eif2ak2	T	A	17: 78,858,536	R411*	probably null	Het
Frem2	T	C	3: 53,653,513	E1191G	probably damaging	Het
Fry	T	C	5: 150,395,786	V972A	probably damaging	Het
Fry	T	A	5: 150,491,090	C467S		Het
Fscn1	T	C	5: 142,960,515	Y23H	probably damaging	Het
Gm16506	T	A	14: 43,724,302	I163F		Het
Gm21103	T	C	14: 6,303,774	Y92C	probably damaging	Het
Golgb1	A	G	16: 36,913,721	H1151R	probably benign	Het
Gprc5c	T	C	11: 114,864,282	Y262H	probably damaging	Het
Hc	G	T	2: 35,039,694	N245K	probably benign	Het
Hps6	T	A	19: 46,005,490	L622Q	probably damaging	Het
Hsd17b1	T	C	11: 101,079,209	Y156H	probably damaging	Het
Ireb2	T	A	9: 54,906,641	F799L	probably damaging	Het
Irf1	A	G	11: 53,774,412	D205G	probably damaging	Het
Kif12	A	T	4: 63,171,205	F103L	probably benign	Het
Krt12	C	T	11: 99,416,052	V475M	unknown	Het
Lca5	T	A	9: 83,423,169	T195S	probably benign	Het
Lrrc17	T	C	5: 21,575,339	V437A	possibly damaging	Het
Malt1	G	T	18: 65,464,051	D468Y	probably damaging	Het
Man2b2	C	T	5: 36,815,485	A562T	probably benign	Het
Mrc1	C	T	2: 14,304,146	Q794*	probably null	Het
Muc16	T	A	9: 18,655,233	I1997L	unknown	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Mycbp2	A	T	14: 103,122,603	F4518Y	probably damaging	Het
Myo5a	T	A	9: 75,129,992	I159N	probably damaging	Het
Nat1	T	C	8: 67,491,020	V19A	probably benign	Het
Ndst4	A	G	3: 125,561,471	T343A	probably damaging	Het
Nlrp9b	A	T	7: 20,045,930	L839F	probably damaging	Het
Nxnl1	A	G	8: 71,566,554	I9T	probably benign	Het
Olfr1351	C	A	10: 79,017,649	S109*	probably null	Het
Olfr331	T	A	11: 58,502,554	M7L	probably benign	Het
Olfr364-ps1	C	T	2: 37,146,260	T16I	probably benign	Het
Olfr548-ps1	A	T	7: 102,541,992	I19F	probably damaging	Het
Olfr693	G	A	7: 106,678,048	A146V	probably benign	Het
Pou5f2	T	C	13: 78,025,265	S109P	possibly damaging	Het
Prkcz	G	A	4: 155,286,793	Q321*	probably null	Het
Prr18	G	T	17: 8,341,531	R173L	probably damaging	Het
Ralgapb	T	C	2: 158,492,460	Y1364H	probably damaging	Het
Ralgapb	A	T	2: 158,494,662	I1407F	probably damaging	Het
Sacs	T	A	14: 61,211,009	Y3501*	probably null	Het
Sall3	G	A	18: 80,973,754	P320S	probably benign	Het
Scn8a	A	T	15: 101,039,778	H1676L	probably benign	Het
Shmt1	T	C	11: 60,798,644	D178G	probably damaging	Het
Slmap	T	C	14: 26,422,521	K737R	probably benign	Het
Ssh2	G	A	11: 77,454,794	V1202I	probably benign	Het
Stard7	A	G	2: 127,295,494	D288G	possibly damaging	Het
Tek	A	T	4: 94,853,487	D827V	probably damaging	Het
Tfap2e	A	G	4: 126,720,563	L276P	probably damaging	Het
Tns3	T	C	11: 8,437,251	N1312S	probably benign	Het
Tubd1	T	A	11: 86,557,805	S315T	probably damaging	Het
Ube2f	T	A	1: 91,265,219	C50*	probably null	Het
Vmn2r109	T	C	17: 20,564,744	I5V	probably benign	Het
Vmn2r39	T	C	7: 9,023,668	T445A	probably damaging	Het

Other mutations in Dpagt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Dpagt1	APN	9	44332652	critical splice donor site	probably null
IGL01722:Dpagt1	APN	9	44327602	missense	possibly damaging	0.50
IGL02066:Dpagt1	APN	9	44331906	missense	probably damaging	1.00
R3103:Dpagt1	UTSW	9	44327995	missense	probably benign	0.00
R5585:Dpagt1	UTSW	9	44329142	splice site	probably null
R6481:Dpagt1	UTSW	9	44331190	missense	probably damaging	1.00
R7390:Dpagt1	UTSW	9	44332022	missense	probably benign	0.02
R7431:Dpagt1	UTSW	9	44326087	nonsense	probably null
R8415:Dpagt1	UTSW	9	44327185	missense	possibly damaging	0.91
R8477:Dpagt1	UTSW	9	44332093	critical splice donor site	probably null
R8975:Dpagt1	UTSW	9	44326149	unclassified	probably benign
RF022:Dpagt1	UTSW	9	44331965	missense	possibly damaging	0.95
Z1176:Dpagt1	UTSW	9	44329125	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGCAATTAAGATCCGGGTGG -3'
(R):5'- GGTTACTCACATCTGCTGCTG -3'

Sequencing Primer
(F):5'- AGCCGAGGTTGCTTCCTAAGAG -3'
(R):5'- GCTGGCTGAGCTTGTTGAG -3'

Posted On

2019-05-15