Mutagenetix > Incidental Mutation

Incidental Mutation 'R0211:Ddost'

66402

Institutional Source

Beutler Lab

Gene Symbol

Ddost

Ensembl Gene

ENSMUSG00000028757

Gene Name

dolichyl-di-phosphooligosaccharide-protein glycotransferase

Synonyms

MMRRC Submission

038462-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0211 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

138032049-138039930 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 138036913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 159 (V159M)

Ref Sequence

ENSEMBL: ENSMUSP00000030538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030536] [ENSMUST00000030538] [ENSMUST00000105816] [ENSMUST00000105817]

AlphaFold

O54734

Predicted Effect

probably benign
Transcript: ENSMUST00000030536

SMART Domains

Protein: ENSMUSP00000030536
Gene: ENSMUSG00000028756

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	30	43	N/A	INTRINSIC
low complexity region	88	99	N/A	INTRINSIC
low complexity region	105	110	N/A	INTRINSIC
Pfam:Pkinase	257	508	2.9e-24	PFAM
Pfam:Pkinase_Tyr	306	506	4e-15	PFAM
low complexity region	558	573	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000030538
AA Change: V159M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030538
Gene: ENSMUSG00000028757
AA Change: V159M

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:DDOST_48kD	32	441	4.5e-155	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105816

SMART Domains

Protein: ENSMUSP00000101442
Gene: ENSMUSG00000028756

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	94	4.6e-6	PFAM
Pfam:Pkinase	1	96	8.4e-9	PFAM
low complexity region	146	161	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105817

SMART Domains

Protein: ENSMUSP00000101443
Gene: ENSMUSG00000028756

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	75	80	N/A	INTRINSIC
Pfam:Pkinase	231	478	7.9e-29	PFAM
Pfam:Pkinase_Tyr	276	476	1.2e-15	PFAM
low complexity region	528	543	N/A	INTRINSIC

Coding Region Coverage

1x: 96.9%
3x: 92.1%
10x: 58.4%
20x: 15.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,262,870 (GRCm39)	L1401P	possibly damaging	Het
Adgrf1	T	C	17: 43,607,581 (GRCm39)	L100P	probably damaging	Het
Akt1	T	C	12: 112,621,576 (GRCm39)	T407A	probably damaging	Het
Arnt	T	A	3: 95,383,460 (GRCm39)	M242K	probably damaging	Het
Atad5	T	G	11: 79,986,473 (GRCm39)	V520G	probably benign	Het
Cbr2	T	A	11: 120,621,614 (GRCm39)	I88L	probably benign	Het
Ccdc51	T	C	9: 108,918,441 (GRCm39)	M10T	probably benign	Het
Cryba1	T	A	11: 77,609,693 (GRCm39)	Y179F	probably damaging	Het
Dcaf4	T	A	12: 83,582,735 (GRCm39)	F277I	probably damaging	Het
Dnase2a	A	G	8: 85,635,417 (GRCm39)		probably benign	Het
Efcc1	A	T	6: 87,726,136 (GRCm39)	T312S	probably benign	Het
Ermard	A	T	17: 15,242,205 (GRCm39)	Q127L	probably damaging	Het
Ggnbp2	G	A	11: 84,731,139 (GRCm39)	T325M	probably damaging	Het
H2-T5	T	C	17: 36,478,899 (GRCm39)	T117A	probably damaging	Het
Ift74	C	T	4: 94,567,492 (GRCm39)	T395I	probably benign	Het
Irf8	A	T	8: 121,466,714 (GRCm39)	D53V	probably damaging	Het
Itgad	A	G	7: 127,803,813 (GRCm39)	Y69C	probably damaging	Het
Lpin3	A	T	2: 160,740,601 (GRCm39)	D382V	probably damaging	Het
Map4k3	C	T	17: 80,952,270 (GRCm39)	A179T	probably damaging	Het
Nck1	A	T	9: 100,379,820 (GRCm39)	W144R	probably damaging	Het
Nin	T	G	12: 70,061,649 (GRCm39)	T2072P	probably damaging	Het
Nop2	T	G	6: 125,118,307 (GRCm39)	L529R	probably damaging	Het
Nynrin	T	C	14: 56,109,255 (GRCm39)	F1454S	probably benign	Het
Or10ak7	T	A	4: 118,791,467 (GRCm39)	M191L	probably benign	Het
Or5b101	T	C	19: 13,005,646 (GRCm39)	T16A	possibly damaging	Het
Or8j3c	A	C	2: 86,253,451 (GRCm39)	S190A	probably damaging	Het
Pcdhb10	A	T	18: 37,547,059 (GRCm39)	M712L	probably benign	Het
Pcx	C	T	19: 4,670,227 (GRCm39)	A935V	probably damaging	Het
Pdzd7	A	G	19: 45,022,106 (GRCm39)	V514A	possibly damaging	Het
Plxnb1	T	A	9: 108,932,731 (GRCm39)	Y568*	probably null	Het
Rgr	T	G	14: 36,768,925 (GRCm39)	T37P	probably damaging	Het
Rpusd2	A	G	2: 118,868,893 (GRCm39)	S439G	probably benign	Het
Slc6a21	A	C	7: 44,937,667 (GRCm39)	T653P	possibly damaging	Het
Spdef	C	T	17: 27,933,894 (GRCm39)	R309H	probably damaging	Het
Srp68	A	T	11: 116,156,377 (GRCm39)	Y84N	probably damaging	Het
Tmem63b	T	A	17: 45,972,839 (GRCm39)	M652L	probably benign	Het
Tnk1	A	G	11: 69,746,007 (GRCm39)	V306A	probably damaging	Het
Tnnc2	T	A	2: 164,619,404 (GRCm39)	I147F	probably damaging	Het
Tyw3	T	C	3: 154,293,132 (GRCm39)	N181S	probably damaging	Het
Unc79	T	A	12: 103,039,051 (GRCm39)	S682T	probably benign	Het
Wasl	G	T	6: 24,633,892 (GRCm39)	A124E	probably damaging	Het
Zfp287	T	C	11: 62,605,743 (GRCm39)	H388R	probably damaging	Het
Zfp335	T	C	2: 164,749,612 (GRCm39)	T262A	probably damaging	Het
Zfp457	C	G	13: 67,441,211 (GRCm39)	G359R	probably benign	Het
Zfp872	T	A	9: 22,111,469 (GRCm39)	I316N	probably damaging	Het

Other mutations in Ddost

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01405:Ddost	APN	4	138,039,014 (GRCm39)	missense	probably damaging	1.00
IGL01636:Ddost	APN	4	138,036,707 (GRCm39)	missense	possibly damaging	0.94
R0211:Ddost	UTSW	4	138,036,913 (GRCm39)	missense	probably damaging	1.00
R0310:Ddost	UTSW	4	138,037,922 (GRCm39)	missense	probably benign	0.25
R0411:Ddost	UTSW	4	138,036,964 (GRCm39)	missense	probably benign	0.00
R0452:Ddost	UTSW	4	138,037,499 (GRCm39)	missense	possibly damaging	0.80
R0521:Ddost	UTSW	4	138,038,046 (GRCm39)	missense	probably benign
R5336:Ddost	UTSW	4	138,036,741 (GRCm39)	missense	possibly damaging	0.81
R9529:Ddost	UTSW	4	138,038,780 (GRCm39)	missense	probably benign	0.25
R9582:Ddost	UTSW	4	138,035,583 (GRCm39)	missense	possibly damaging	0.85
X0011:Ddost	UTSW	4	138,036,708 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-19