Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02349:Alg8'

289411

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alg8

Ensembl Gene

ENSMUSG00000035704

Gene Name

ALG8 alpha-1,3-glucosyltransferase

Synonyms

LOC381903

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02349

Quality Score

Status

Chromosome

Chromosomal Location

97020813-97041392 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97029101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 152 (N152S)

Ref Sequence

ENSEMBL: ENSMUSP00000095901 (fasta)

Gene Model

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

AlphaFold

Q6P8H8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098300
AA Change: N152S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095901
Gene: ENSMUSG00000035704
AA Change: N152S

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

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,611,462 (GRCm39)	I484V	probably benign	Het
Acly	C	T	11: 100,410,505 (GRCm39)	E158K	probably benign	Het
Akap3	T	A	6: 126,837,226 (GRCm39)	D3E	probably benign	Het
Ano7	A	G	1: 93,319,212 (GRCm39)	T323A	probably benign	Het
Bmp1	T	C	14: 70,744,989 (GRCm39)	Y252C	possibly damaging	Het
Cacnb3	A	T	15: 98,538,842 (GRCm39)	K159*	probably null	Het
Capns2	T	A	8: 93,628,690 (GRCm39)	V193D	probably benign	Het
Cct2	A	G	10: 116,889,044 (GRCm39)	I48T	probably benign	Het
Cep152	A	G	2: 125,436,876 (GRCm39)	S555P	probably damaging	Het
Col5a3	T	C	9: 20,683,657 (GRCm39)	E1533G	unknown	Het
Cyp17a1	A	G	19: 46,655,936 (GRCm39)	L451P	probably damaging	Het
Dgcr8	T	C	16: 18,098,170 (GRCm39)	E407G	possibly damaging	Het
Dhx57	T	A	17: 80,563,000 (GRCm39)	N876Y	probably damaging	Het
Dnah7b	T	A	1: 46,138,663 (GRCm39)	L235*	probably null	Het
Fgfr2	A	G	7: 129,844,336 (GRCm39)	Y50H	probably damaging	Het
Gars1	T	A	6: 55,025,049 (GRCm39)		probably benign	Het
Gfpt2	A	T	11: 49,698,530 (GRCm39)	I42F	probably benign	Het
Glcci1	A	G	6: 8,558,581 (GRCm39)	K35E	probably damaging	Het
Gpatch1	T	A	7: 35,006,680 (GRCm39)	M163L	probably damaging	Het
Gpr132	T	C	12: 112,816,475 (GRCm39)	Y117C	probably damaging	Het
Ints1	G	A	5: 139,754,223 (GRCm39)	P650S	probably damaging	Het
Itga2b	T	C	11: 102,352,189 (GRCm39)	D464G	probably damaging	Het
Kansl2	C	A	15: 98,427,327 (GRCm39)	G185C	probably damaging	Het
Kat6b	T	A	14: 21,687,661 (GRCm39)	M570K	probably damaging	Het
Macir	A	G	1: 97,573,777 (GRCm39)	L96P	probably damaging	Het
Map3k19	T	A	1: 127,751,506 (GRCm39)	D615V	possibly damaging	Het
Map3k7cl	A	G	16: 87,352,901 (GRCm39)		probably benign	Het
Msto1	A	C	3: 88,818,205 (GRCm39)	S360R	possibly damaging	Het
Myo15b	C	A	11: 115,753,931 (GRCm39)		probably benign	Het
Nhlrc2	T	C	19: 56,580,151 (GRCm39)	V428A	possibly damaging	Het
Or13a28	T	C	7: 140,218,384 (GRCm39)	F257L	probably benign	Het
Or1j19	A	C	2: 36,677,058 (GRCm39)	T174P	possibly damaging	Het
Or51a39	G	A	7: 102,363,333 (GRCm39)	R96C	probably damaging	Het
Or51f2	A	T	7: 102,527,116 (GRCm39)	Y263F	probably benign	Het
Or5p51	A	G	7: 107,444,812 (GRCm39)	S43P	probably benign	Het
Or8b12	T	A	9: 37,657,502 (GRCm39)	M24K	probably benign	Het
Pcm1	G	T	8: 41,741,192 (GRCm39)		probably null	Het
Plekhg3	A	T	12: 76,609,074 (GRCm39)	N149I	probably damaging	Het
Rbp3	C	A	14: 33,677,676 (GRCm39)	H541Q	probably damaging	Het
Rgp1	T	C	4: 43,581,236 (GRCm39)		probably null	Het
Scyl2	A	T	10: 89,493,800 (GRCm39)		probably benign	Het
Tas2r144	A	C	6: 42,193,010 (GRCm39)	H250P	probably benign	Het
Tmppe	T	C	9: 114,234,268 (GRCm39)	V189A	probably benign	Het
Trp53bp1	G	A	2: 121,029,555 (GRCm39)	S1875L	probably damaging	Het
Txnl4a	T	A	18: 80,261,944 (GRCm39)	L60H	probably damaging	Het
Upp2	A	G	2: 58,667,898 (GRCm39)	D217G	probably benign	Het
Vmn2r74	A	G	7: 85,601,724 (GRCm39)	L638P	probably damaging	Het
Vnn1	A	G	10: 23,774,401 (GRCm39)	N148S	possibly damaging	Het
Xrcc1	C	T	7: 24,266,467 (GRCm39)	Q241*	probably null	Het
Zfp990	A	G	4: 145,257,447 (GRCm39)		probably benign	Het

Other mutations in Alg8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Alg8	APN	7	97,027,383 (GRCm39)	missense	possibly damaging	0.81
IGL02441:Alg8	APN	7	97,029,504 (GRCm39)	missense	probably benign	0.04
R0238:Alg8	UTSW	7	97,032,891 (GRCm39)	critical splice acceptor site	probably null
R0238:Alg8	UTSW	7	97,032,891 (GRCm39)	critical splice acceptor site	probably null
R0239:Alg8	UTSW	7	97,032,891 (GRCm39)	critical splice acceptor site	probably null
R0239:Alg8	UTSW	7	97,032,891 (GRCm39)	critical splice acceptor site	probably null
R1109:Alg8	UTSW	7	97,032,891 (GRCm39)	critical splice acceptor site	probably null
R1429:Alg8	UTSW	7	97,039,499 (GRCm39)	missense	probably benign	0.18
R3838:Alg8	UTSW	7	97,037,752 (GRCm39)	missense	probably damaging	1.00
R5343:Alg8	UTSW	7	97,036,126 (GRCm39)	missense	possibly damaging	0.53
R5622:Alg8	UTSW	7	97,036,006 (GRCm39)	splice site	probably benign
R5910:Alg8	UTSW	7	97,039,493 (GRCm39)	missense	possibly damaging	0.67
R5963:Alg8	UTSW	7	97,029,037 (GRCm39)	missense	probably benign	0.00
R6484:Alg8	UTSW	7	97,032,135 (GRCm39)	missense	probably benign
R6735:Alg8	UTSW	7	97,032,189 (GRCm39)	missense	probably benign	0.05
R7896:Alg8	UTSW	7	97,040,123 (GRCm39)	missense	probably damaging	1.00
R7957:Alg8	UTSW	7	97,040,131 (GRCm39)	missense	probably benign	0.04
R7958:Alg8	UTSW	7	97,036,128 (GRCm39)	missense	possibly damaging	0.65
R9226:Alg8	UTSW	7	97,027,423 (GRCm39)	missense	probably damaging	1.00
R9701:Alg8	UTSW	7	97,027,486 (GRCm39)	missense	possibly damaging	0.87
R9802:Alg8	UTSW	7	97,027,486 (GRCm39)	missense	possibly damaging	0.87
Z1176:Alg8	UTSW	7	97,032,968 (GRCm39)	missense	probably benign	0.01
Z1177:Alg8	UTSW	7	97,020,869 (GRCm39)	missense	probably benign

Posted On

2015-04-16