Mutagenetix > Incidental Mutation

Incidental Mutation 'R6481:Dpagt1'

517115

Institutional Source

Beutler Lab

Gene Symbol

Dpagt1

Ensembl Gene

ENSMUSG00000032123

Gene Name

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Synonyms

Gnpta, Dpagt2, GPT

MMRRC Submission

044613-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6481 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44237316-44245197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44242487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 241 (L241P)

Ref Sequence

ENSEMBL: ENSMUSP00000056282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052686] [ENSMUST00000054708] [ENSMUST00000215050] [ENSMUST00000215248]

AlphaFold

P42867

Predicted Effect

probably benign
Transcript: ENSMUST00000052686

SMART Domains

Protein: ENSMUSP00000051432
Gene: ENSMUSG00000049932

Domain	Start	End	E-Value	Type
H2A	3	123	1.64e-81	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000054708
AA Change: L241P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056282
Gene: ENSMUSG00000032123
AA Change: L241P

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

noncoding transcript
Transcript: ENSMUST00000196879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213709

Predicted Effect

probably benign
Transcript: ENSMUST00000215050

Predicted Effect

probably benign
Transcript: ENSMUST00000215248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217225

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428L18Rik	T	C	1: 31,261,588 (GRCm39)		probably benign	Het
Aadacl2fm3	T	C	3: 59,768,478 (GRCm39)	Y3H	probably benign	Het
Abca9	G	A	11: 110,056,788 (GRCm39)	Q11*	probably null	Het
Abcc9	A	T	6: 142,550,621 (GRCm39)	M1273K	probably damaging	Het
Abi2	A	G	1: 60,478,098 (GRCm39)		probably null	Het
Acsm5	A	G	7: 119,134,104 (GRCm39)	E295G	probably benign	Het
Anapc5	T	C	5: 122,938,607 (GRCm39)	D389G	probably benign	Het
Ano3	A	T	2: 110,625,372 (GRCm39)	D159E	probably benign	Het
Arhgap26	T	A	18: 39,283,110 (GRCm39)	M349K	probably damaging	Het
Arhgef39	A	G	4: 43,498,580 (GRCm39)		probably null	Het
Astn1	T	C	1: 158,440,032 (GRCm39)	S867P	probably benign	Het
Atad3a	A	T	4: 155,838,098 (GRCm39)		probably null	Het
Cadm1	A	T	9: 47,699,407 (GRCm39)	D91V	probably damaging	Het
Cc2d2b	T	C	19: 40,790,839 (GRCm39)	I933T	possibly damaging	Het
Cdcp3	A	T	7: 130,858,530 (GRCm39)	D1066V	probably benign	Het
Celsr3	C	G	9: 108,714,283 (GRCm39)	N1937K	possibly damaging	Het
Cic	A	C	7: 24,987,706 (GRCm39)	T558P	possibly damaging	Het
Cntln	A	G	4: 84,985,747 (GRCm39)	M933V	probably benign	Het
Coch	T	C	12: 51,644,956 (GRCm39)	F170S	probably damaging	Het
Col1a2	A	G	6: 4,538,680 (GRCm39)	Y1200C	unknown	Het
Col26a1	T	C	5: 136,773,032 (GRCm39)	M383V	probably benign	Het
Col4a4	A	T	1: 82,431,499 (GRCm39)	M1595K	unknown	Het
Crh	T	C	3: 19,748,501 (GRCm39)	E47G	probably benign	Het
D930020B18Rik	T	C	10: 121,497,053 (GRCm39)		probably null	Het
Def6	G	A	17: 28,445,137 (GRCm39)	R482H	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
E2f7	A	G	10: 110,610,542 (GRCm39)	E389G	probably damaging	Het
Eif2b1	T	C	5: 124,715,174 (GRCm39)	I53V	probably benign	Het
Fbxo4	A	G	15: 3,995,216 (GRCm39)	L376P	probably damaging	Het
Fgfr2	A	G	7: 129,787,008 (GRCm39)	S352P	possibly damaging	Het
Fkbpl	C	A	17: 34,864,388 (GRCm39)	P52Q	possibly damaging	Het
Fry	G	A	5: 150,309,479 (GRCm39)	R641H	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm12728	A	G	4: 105,651,546 (GRCm39)	K52R	probably damaging	Het
Gtf2a1l	A	G	17: 89,019,053 (GRCm39)	D379G	probably benign	Het
Gys1	A	T	7: 45,092,393 (GRCm39)	Y332F	possibly damaging	Het
Hoxa7	T	A	6: 52,193,594 (GRCm39)		probably benign	Het
Ifitm1	G	A	7: 140,549,519 (GRCm39)	V101I	probably benign	Het
Kalrn	T	A	16: 34,181,354 (GRCm39)	T95S	probably damaging	Het
Leng8	A	G	7: 4,148,412 (GRCm39)	Y728C	probably damaging	Het
Lonp2	G	T	8: 87,361,536 (GRCm39)	D238Y	possibly damaging	Het
Ltn1	A	C	16: 87,175,868 (GRCm39)	S1757A	probably damaging	Het
Man2a2	A	T	7: 80,013,819 (GRCm39)	S411T	probably damaging	Het
Mrps33	C	A	6: 39,782,304 (GRCm39)		probably null	Het
Muc16	C	T	9: 18,461,973 (GRCm39)		probably null	Het
Muc5ac	A	G	7: 141,362,808 (GRCm39)		probably benign	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Or10al6	T	G	17: 38,083,194 (GRCm39)	F217V	probably damaging	Het
Or13p8	A	G	4: 118,583,930 (GRCm39)	Y162C	probably damaging	Het
Or1j21	T	A	2: 36,683,789 (GRCm39)	D180E	possibly damaging	Het
Or4c106	A	T	2: 88,682,863 (GRCm39)	T190S	probably damaging	Het
Or55b10	A	T	7: 102,143,346 (GRCm39)	V212D	probably damaging	Het
Or5w17	T	C	2: 87,583,812 (GRCm39)	N175S	probably damaging	Het
Pag1	T	A	3: 9,764,396 (GRCm39)	E252D	possibly damaging	Het
Plcd3	T	C	11: 102,968,593 (GRCm39)	Y366C	probably damaging	Het
Psg17	A	C	7: 18,548,375 (GRCm39)	S465R	probably damaging	Het
Ptpn9	G	T	9: 56,930,324 (GRCm39)	V50L	probably damaging	Het
Rab17	T	G	1: 90,886,683 (GRCm39)	S190R	probably benign	Het
Samd11	A	G	4: 156,333,535 (GRCm39)		probably null	Het
Slc17a5	A	G	9: 78,445,553 (GRCm39)	F434S	possibly damaging	Het
Slc22a15	A	G	3: 101,790,899 (GRCm39)	I202T	possibly damaging	Het
Slc8a1	G	T	17: 81,696,347 (GRCm39)	Q896K	probably benign	Het
Slc9a5	A	T	8: 106,085,025 (GRCm39)	K509*	probably null	Het
Slf2	A	C	19: 44,961,603 (GRCm39)	M1041L	probably benign	Het
Smn1	A	G	13: 100,265,008 (GRCm39)		probably null	Het
Snx9	T	C	17: 5,972,484 (GRCm39)		probably null	Het
Soat2	T	A	15: 102,070,490 (GRCm39)	L431Q	probably damaging	Het
Spam1	T	A	6: 24,796,929 (GRCm39)	N293K	probably benign	Het
Tatdn1	T	C	15: 58,795,760 (GRCm39)	T66A	possibly damaging	Het
Tmprss11g	A	T	5: 86,640,015 (GRCm39)	S205T	probably benign	Het
Tnpo3	G	T	6: 29,571,100 (GRCm39)	N431K	possibly damaging	Het
Trim39	T	C	17: 36,579,554 (GRCm39)	T31A	probably benign	Het
Trmt9b	T	C	8: 36,965,637 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,451,764 (GRCm39)		probably null	Het
Ttll11	G	A	2: 35,792,766 (GRCm39)	T359M	probably damaging	Het
Ttn	T	G	2: 76,571,843 (GRCm39)	D26350A	probably damaging	Het
Ubr4	G	T	4: 139,159,062 (GRCm39)	V2472F	probably damaging	Het
Vsx2	C	T	12: 84,639,878 (GRCm39)	P265S	probably benign	Het
Wdr90	C	T	17: 26,064,885 (GRCm39)	G1708R	probably damaging	Het
Wnt11	A	G	7: 98,502,481 (GRCm39)	Y351C	probably damaging	Het
Xpo6	A	C	7: 125,712,057 (GRCm39)	N3K	probably damaging	Het
Zfp445	A	G	9: 122,686,631 (GRCm39)	S165P	probably benign	Het
Zfp953	A	T	13: 67,496,001 (GRCm39)	Y13*	probably null	Het
Zftraf1	T	C	15: 76,542,908 (GRCm39)		probably null	Het

Other mutations in Dpagt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Dpagt1	APN	9	44,243,949 (GRCm39)	critical splice donor site	probably null
IGL01722:Dpagt1	APN	9	44,238,899 (GRCm39)	missense	possibly damaging	0.50
IGL02066:Dpagt1	APN	9	44,243,203 (GRCm39)	missense	probably damaging	1.00
R3103:Dpagt1	UTSW	9	44,239,292 (GRCm39)	missense	probably benign	0.00
R5585:Dpagt1	UTSW	9	44,240,439 (GRCm39)	splice site	probably null
R7108:Dpagt1	UTSW	9	44,238,318 (GRCm39)	intron	probably benign
R7390:Dpagt1	UTSW	9	44,243,319 (GRCm39)	missense	probably benign	0.02
R7431:Dpagt1	UTSW	9	44,237,384 (GRCm39)	nonsense	probably null
R8415:Dpagt1	UTSW	9	44,238,482 (GRCm39)	missense	possibly damaging	0.91
R8477:Dpagt1	UTSW	9	44,243,390 (GRCm39)	critical splice donor site	probably null
R8975:Dpagt1	UTSW	9	44,237,446 (GRCm39)	unclassified	probably benign
RF022:Dpagt1	UTSW	9	44,243,262 (GRCm39)	missense	possibly damaging	0.95
Z1176:Dpagt1	UTSW	9	44,240,422 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGACTTGGCTACATAGGAAGTCAG -3'
(R):5'- AGACGAGTGCTTGTGCTCAC -3'

Sequencing Primer
(F):5'- CTTGAAAGTGACTTGGGTGC -3'
(R):5'- CACAAGAGTGGCAAACTACTAC -3'

Posted On

2018-05-21