Mutagenetix > Incidental Mutation

Incidental Mutation 'R3838:Alg8'

276991

Institutional Source

Beutler Lab

Gene Symbol

Alg8

Ensembl Gene

ENSMUSG00000035704

Gene Name

ALG8 alpha-1,3-glucosyltransferase

Synonyms

LOC381903

MMRRC Submission

040779-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97020813-97041392 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97037752 bp (GRCm39)

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]

AlphaFold

Q6P8H8

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
4930486L24Rik	A	G	13: 60,993,041 (GRCm39)	Y213H	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Arid4a	A	G	12: 71,122,559 (GRCm39)	E980G	possibly damaging	Het
Aspm	C	T	1: 139,405,792 (GRCm39)	H1560Y	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
Bud13	A	C	9: 46,201,490 (GRCm39)	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,929,939 (GRCm39)	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,722,790 (GRCm39)	E476G	probably damaging	Het
Col2a1	T	C	15: 97,886,857 (GRCm39)	D345G	unknown	Het
Col2a1	A	T	15: 97,898,462 (GRCm39)		probably benign	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Dock4	G	T	12: 40,844,623 (GRCm39)		probably null	Het
Epx	A	T	11: 87,765,656 (GRCm39)	L101Q	probably damaging	Het
F13a1	A	T	13: 37,231,398 (GRCm39)	N21K	probably damaging	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Foxj3	T	A	4: 119,473,821 (GRCm39)	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 97,083,522 (GRCm39)	R273*	probably null	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn2	T	C	2: 31,303,419 (GRCm39)	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,321,658 (GRCm39)	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,511,664 (GRCm39)	C139R	possibly damaging	Het
Lsamp	A	T	16: 41,954,675 (GRCm39)	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msn	C	A	X: 95,203,805 (GRCm39)	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,474,909 (GRCm39)	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nme2	T	A	11: 93,840,803 (GRCm39)	E252D	probably benign	Het
Ntpcr	G	A	8: 126,464,111 (GRCm39)	V79M	probably damaging	Het
Ogdh	C	T	11: 6,288,627 (GRCm39)	R235*	probably null	Het
Or10d1	A	G	9: 39,484,267 (GRCm39)	V96A	probably benign	Het
Or10w1	A	G	19: 13,632,321 (GRCm39)	D176G	probably benign	Het
Or9k2	C	A	10: 129,998,275 (GRCm39)	E307*	probably null	Het
P3r3urf	A	G	4: 116,030,718 (GRCm39)	T41A	probably benign	Het
Pcdh20	T	C	14: 88,705,899 (GRCm39)	N467S	probably benign	Het
Pkhd1	G	A	1: 20,604,853 (GRCm39)	T1154I	possibly damaging	Het
Polq	G	T	16: 36,898,711 (GRCm39)	R2157I	probably damaging	Het
Reep6	C	A	10: 80,171,723 (GRCm39)	A533E	probably damaging	Het
Senp2	T	C	16: 21,828,485 (GRCm39)	S32P	probably damaging	Het
Septin11	T	A	5: 93,296,258 (GRCm39)	I52N	probably damaging	Het
Shld2	T	C	14: 33,967,325 (GRCm39)	D77G	probably benign	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Spdye4b	C	T	5: 143,178,084 (GRCm39)	T11I	probably benign	Het
Srrt	C	T	5: 137,300,387 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,457,754 (GRCm39)	C3085S	probably damaging	Het
Stim1	C	T	7: 102,060,503 (GRCm39)	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,908,113 (GRCm39)	V217L	probably benign	Het
Thpo	G	A	16: 20,547,498 (GRCm39)	R38C	probably damaging	Het
Tmem210	A	G	2: 25,178,444 (GRCm39)	E35G	possibly damaging	Het
Trim12c	T	A	7: 103,990,075 (GRCm39)		probably benign	Het
Tvp23b	A	G	11: 62,774,455 (GRCm39)	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn2r73	A	G	7: 85,507,258 (GRCm39)	W685R	probably benign	Het
Zfp618	G	A	4: 63,051,801 (GRCm39)	A861T	probably benign	Het
Zfp715	A	G	7: 42,949,180 (GRCm39)	V260A	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
IGL02349:Alg8	APN	7	97,029,101 (GRCm39)	missense	possibly damaging	0.95
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
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

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