Mutagenetix > Incidental Mutations

Incidental Mutation 'R3838:Alg8'

276991

Institutional Source

Beutler Lab

Gene Symbol

Alg8

Ensembl Gene

ENSMUSG00000035704

Gene Name

asparagine-linked glycosylation 8 (alpha-1,3-glucosyltransferase)

Synonyms

LOC381903

MMRRC Submission

040779-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97371606-97392185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97388545 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 379 (H379Y)

Ref Sequence

ENSEMBL: ENSMUSP00000095901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098300]

Predicted Effect

probably damaging
Transcript: ENSMUST00000098300
AA Change: H379Y

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

SMART Domains

Protein: ENSMUSP00000095901
Gene: ENSMUSG00000035704
AA Change: H379Y

Domain	Start	End	E-Value	Type
Pfam:Alg6_Alg8	21	510	1.3e-165	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137105

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154107

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	A	G	4: 116,173,521	T41A	probably benign	Het
4930486L24Rik	A	G	13: 60,845,227	Y213H	probably damaging	Het
Arhgef25	T	C	10: 127,189,736	T12A	probably benign	Het
Arid4a	A	G	12: 71,075,785	E980G	possibly damaging	Het
Aspm	C	T	1: 139,478,054	H1560Y	probably benign	Het
Atg10	A	T	13: 90,937,380	I150K	probably damaging	Het
Bud13	A	C	9: 46,290,192	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,879,939	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,638,333	E476G	probably damaging	Het
Col2a1	T	C	15: 97,988,976	D345G	unknown	Het
Col2a1	A	T	15: 98,000,581		probably benign	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Dnajb2	G	A	1: 75,241,480		probably null	Het
Dock4	G	T	12: 40,794,624		probably null	Het
Epx	A	T	11: 87,874,830	L101Q	probably damaging	Het
F13a1	A	T	13: 37,047,424	N21K	probably damaging	Het
Fam13c	C	T	10: 70,542,648	S336L	probably damaging	Het
Fam35a	T	C	14: 34,245,368	D77G	probably benign	Het
Foxj3	T	A	4: 119,616,624	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 96,947,014	R273*	probably null	Het
Gpam	T	C	19: 55,080,458	N450S	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmcn2	T	C	2: 31,413,407	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,659,089	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,271,658	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,363,545	C139R	possibly damaging	Het
Lsamp	A	T	16: 42,134,312	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,718,381	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msn	C	A	X: 96,160,199	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,632,989	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,495,322		probably null	Het
Nme2	T	A	11: 93,949,977	E252D	probably benign	Het
Ntpcr	G	A	8: 125,737,372	V79M	probably damaging	Het
Ogdh	C	T	11: 6,338,627	R235*	probably null	Het
Olfr1490	A	G	19: 13,654,957	D176G	probably benign	Het
Olfr825	C	A	10: 130,162,406	E307*	probably null	Het
Olfr959	A	G	9: 39,572,971	V96A	probably benign	Het
Pcdh20	T	C	14: 88,468,463	N467S	probably benign	Het
Pkhd1	G	A	1: 20,534,629	T1154I	possibly damaging	Het
Polq	G	T	16: 37,078,349	R2157I	probably damaging	Het
Reep6	C	A	10: 80,335,889	A533E	probably damaging	Het
Senp2	T	C	16: 22,009,735	S32P	probably damaging	Het
Sept11	T	A	5: 93,148,399	I52N	probably damaging	Het
Slc17a4	C	T	13: 23,901,769	R387H	probably benign	Het
Spdye4b	C	T	5: 143,192,329	T11I	probably benign	Het
Srrt	C	T	5: 137,302,125		probably null	Het
Sspo	T	A	6: 48,480,820	C3085S	probably damaging	Het
Stim1	C	T	7: 102,411,296	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,687,851	V217L	probably benign	Het
Thpo	G	A	16: 20,728,748	R38C	probably damaging	Het
Tmem210	A	G	2: 25,288,432	E35G	possibly damaging	Het
Trim12c	T	A	7: 104,340,868		probably benign	Het
Tvp23b	A	G	11: 62,883,629	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532		probably null	Het
Vmn2r73	A	G	7: 85,858,050	W685R	probably benign	Het
Zfp618	G	A	4: 63,133,564	A861T	probably benign	Het
Zfp715	A	G	7: 43,299,756	V260A	probably benign	Het

Other mutations in Alg8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Alg8	APN	7	97378176	missense	possibly damaging	0.81
IGL02349:Alg8	APN	7	97379894	missense	possibly damaging	0.95
IGL02441:Alg8	APN	7	97380297	missense	probably benign	0.04
R0238:Alg8	UTSW	7	97383684	critical splice acceptor site	probably null
R0238:Alg8	UTSW	7	97383684	critical splice acceptor site	probably null
R0239:Alg8	UTSW	7	97383684	critical splice acceptor site	probably null
R0239:Alg8	UTSW	7	97383684	critical splice acceptor site	probably null
R1109:Alg8	UTSW	7	97383684	critical splice acceptor site	probably null
R1429:Alg8	UTSW	7	97390292	missense	probably benign	0.18
R5343:Alg8	UTSW	7	97386919	missense	possibly damaging	0.53
R5622:Alg8	UTSW	7	97386799	splice site	probably benign
R5910:Alg8	UTSW	7	97390286	missense	possibly damaging	0.67
R5963:Alg8	UTSW	7	97379830	missense	probably benign	0.00
R6484:Alg8	UTSW	7	97382928	missense	probably benign
R6735:Alg8	UTSW	7	97382982	missense	probably benign	0.05
R7896:Alg8	UTSW	7	97390916	missense	probably damaging	1.00
R7979:Alg8	UTSW	7	97390916	missense	probably damaging	1.00
Z1176:Alg8	UTSW	7	97383761	missense	probably benign	0.01
Z1177:Alg8	UTSW	7	97371662	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCAGTGCAGTAGAAAATCCAC -3'
(R):5'- TGCACATCTCAGAATCCTGAC -3'

Sequencing Primer
(F):5'- CACAGCCTGTGTTTGCCTGTG -3'
(R):5'- GGTCTAAAGATCAAGCCAGTTTGCC -3'

Posted On

2015-04-06