Mutagenetix > Incidental Mutation

Incidental Mutation 'R7958:Alg8'

649946

Institutional Source

Beutler Lab

Gene Symbol

Alg8

Ensembl Gene

ENSMUSG00000035704

Gene Name

ALG8 alpha-1,3-glucosyltransferase

Synonyms

LOC381903

MMRRC Submission

046002-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7958 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97020813-97041392 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97036128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 340 (C340R)

Ref Sequence

ENSEMBL: ENSMUSP00000095901 (fasta)

Gene Model

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

AlphaFold

Q6P8H8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098300
AA Change: C340R

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095901
Gene: ENSMUSG00000035704
AA Change: C340R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,911,464 (GRCm39)	T571S	probably benign	Het
Abca8a	A	G	11: 109,922,498 (GRCm39)	Y1362H	probably damaging	Het
Aldh1l2	C	T	10: 83,356,202 (GRCm39)	V63I	probably benign	Het
BC028528	T	C	3: 95,796,224 (GRCm39)	D46G	probably benign	Het
Cdh5	A	T	8: 104,839,649 (GRCm39)	H40L	probably benign	Het
Cul3	T	C	1: 80,249,274 (GRCm39)	T666A	probably benign	Het
Cwc27	T	C	13: 104,941,472 (GRCm39)	D150G	probably benign	Het
Cyp2a12	T	A	7: 26,728,677 (GRCm39)	N49K	probably benign	Het
Dhrs4	T	C	14: 55,725,078 (GRCm39)	L191P	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Fam171a1	T	A	2: 3,179,298 (GRCm39)	S41R	probably damaging	Het
Fam186a	A	T	15: 99,841,189 (GRCm39)	L1685H	probably damaging	Het
Fgfr1	G	T	8: 26,022,358 (GRCm39)	W2L	probably benign	Het
Fpr-rs6	T	A	17: 20,402,705 (GRCm39)	I219F	probably damaging	Het
Gm28360	T	A	1: 117,781,409 (GRCm39)	C133*	probably null	Het
Herc1	A	G	9: 66,393,475 (GRCm39)	D4118G	probably damaging	Het
Hhatl	A	G	9: 121,613,652 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,696,218 (GRCm39)	L384H	probably damaging	Het
Klhl12	G	A	1: 134,395,455 (GRCm39)	R139K	probably benign	Het
Klrg1	T	A	6: 122,248,331 (GRCm39)	*189C	probably null	Het
Krtap19-4	A	G	16: 88,681,833 (GRCm39)	F41S	unknown	Het
Lifr	T	C	15: 7,211,478 (GRCm39)	V672A	possibly damaging	Het
Lrrc25	A	G	8: 71,070,497 (GRCm39)	T93A	possibly damaging	Het
Map7	T	A	10: 20,105,575 (GRCm39)	S9T	unknown	Het
Mycbp2	A	T	14: 103,367,400 (GRCm39)	F4281L	probably benign	Het
Myh10	A	G	11: 68,612,173 (GRCm39)	I162V	probably benign	Het
Myo18a	T	C	11: 77,732,383 (GRCm39)	V1293A	probably damaging	Het
Nipbl	A	G	15: 8,340,742 (GRCm39)	S1993P	possibly damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Oas2	C	T	5: 120,886,831 (GRCm39)	E112K	probably benign	Het
Oosp3	A	T	19: 11,682,820 (GRCm39)	I163F	probably benign	Het
Or8a1	A	G	9: 37,641,682 (GRCm39)	F199S	probably damaging	Het
Phkb	G	T	8: 86,748,292 (GRCm39)	E710D	probably benign	Het
Plekhg4	A	T	8: 106,103,281 (GRCm39)	D318V	possibly damaging	Het
Potefam1	T	C	2: 111,000,670 (GRCm39)	E183G	unknown	Het
Ptprj	T	C	2: 90,299,971 (GRCm39)	I277V	possibly damaging	Het
Ranbp17	A	G	11: 33,437,702 (GRCm39)	S179P	probably damaging	Het
Scaf8	G	A	17: 3,221,397 (GRCm39)	V295M	unknown	Het
Scn3a	T	A	2: 65,336,537 (GRCm39)	I690F	probably damaging	Het
Serpinb1b	A	T	13: 33,273,636 (GRCm39)	K110N	possibly damaging	Het
Sgsh	T	C	11: 119,243,599 (GRCm39)	N41S	probably damaging	Het
Sh2d1b1	A	G	1: 170,110,704 (GRCm39)	T67A	probably benign	Het
Skint5	A	T	4: 113,480,980 (GRCm39)	L958M	unknown	Het
Spg11	T	A	2: 121,923,426 (GRCm39)		probably null	Het
Spo11	T	A	2: 172,825,815 (GRCm39)	D84E	probably benign	Het
Spta1	G	A	1: 174,001,956 (GRCm39)	E29K	probably benign	Het
Srrm2	T	C	17: 24,040,286 (GRCm39)	V2310A	probably benign	Het
Tbc1d30	C	A	10: 121,107,962 (GRCm39)	R480L	probably benign	Het
Tbpl2	A	T	2: 23,985,079 (GRCm39)		probably null	Het
Tjp3	C	T	10: 81,118,828 (GRCm39)	V69I	possibly damaging	Het
Ube3b	T	C	5: 114,539,484 (GRCm39)	V425A	probably benign	Het
Vmn1r151	A	T	7: 22,198,492 (GRCm39)	S204R	probably damaging	Het
Vmn1r42	A	T	6: 89,822,059 (GRCm39)	I170N	probably damaging	Het
Vmn1r65	A	G	7: 6,011,254 (GRCm39)	S327P	probably benign	Het
Vmn2r104	T	C	17: 20,262,988 (GRCm39)	I158V	probably benign	Het
Wdr49	T	A	3: 75,338,454 (GRCm39)	M21L	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
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
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'- GGACCTGACTCATGAGCTATGG -3'
(R):5'- CACAGAGGCTTTCCTGGTAATC -3'

Sequencing Primer
(F):5'- CTGACTCATGAGCTATGGAATCC -3'
(R):5'- TCAAGGTTCTCTGAGAATTGCTAG -3'

Posted On

2020-09-15