Mutagenetix > Incidental Mutation

Incidental Mutation 'R6735:Alg8'

530184

Institutional Source

Beutler Lab

Gene Symbol

Alg8

Ensembl Gene

ENSMUSG00000035704

Gene Name

ALG8 alpha-1,3-glucosyltransferase

Synonyms

LOC381903

MMRRC Submission

044853-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6735 (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 97032189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 246 (F246S)

Ref Sequence

ENSEMBL: ENSMUSP00000095901 (fasta)

Gene Model

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

AlphaFold

Q6P8H8

Predicted Effect

probably benign
Transcript: ENSMUST00000098300
AA Change: F246S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000095901
Gene: ENSMUSG00000035704
AA Change: F246S

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: ENSMUST00000147297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154107

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,026,274 (GRCm39)	T265A	probably benign	Het
Adap1	A	T	5: 139,278,900 (GRCm39)	Y127N	probably damaging	Het
Alpk1	A	G	3: 127,518,098 (GRCm39)	Y68H	probably damaging	Het
Arhgef5	T	C	6: 43,251,966 (GRCm39)	S906P	probably benign	Het
C9	A	T	15: 6,519,387 (GRCm39)	D408V	probably benign	Het
Cnot2	G	A	10: 116,334,058 (GRCm39)	P371S	possibly damaging	Het
Cpeb4	T	A	11: 31,874,700 (GRCm39)	Y174N	probably benign	Het
Enpp3	A	G	10: 24,683,351 (GRCm39)	Y289H	probably damaging	Het
Erbin	A	T	13: 104,020,718 (GRCm39)	D80E	probably damaging	Het
Fgd6	A	T	10: 93,910,182 (GRCm39)	E829V	possibly damaging	Het
Foxn2	T	G	17: 88,794,223 (GRCm39)	S387A	probably benign	Het
Hapstr1	T	A	16: 8,673,764 (GRCm39)	H230Q	probably benign	Het
Irag2	T	C	6: 145,106,619 (GRCm39)	L201S	probably damaging	Het
Kif13a	A	G	13: 46,906,222 (GRCm39)	S574P	possibly damaging	Het
Lhx6	T	G	2: 35,981,390 (GRCm39)	D67A	probably damaging	Het
Lmbr1l	A	T	15: 98,807,121 (GRCm39)	M220K	probably damaging	Het
Macroh2a2	A	G	10: 61,577,046 (GRCm39)	I274T	probably damaging	Het
Naa35	T	C	13: 59,773,378 (GRCm39)	L111P	probably damaging	Het
Notch2	T	A	3: 98,041,902 (GRCm39)	V1307E	probably damaging	Het
Nts	T	A	10: 102,320,859 (GRCm39)	M77L	probably benign	Het
Or5m11b	A	C	2: 85,805,778 (GRCm39)	S64R	possibly damaging	Het
Pigz	A	G	16: 31,764,361 (GRCm39)	N473S	probably benign	Het
Pkd2	A	G	5: 104,628,195 (GRCm39)	D423G	probably damaging	Het
Plac8	A	G	5: 100,710,485 (GRCm39)		probably null	Het
Ppp2r2b	T	C	18: 42,821,653 (GRCm39)		probably null	Het
Proc	T	C	18: 32,256,701 (GRCm39)	N322S	probably benign	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Psd3	A	G	8: 68,573,398 (GRCm39)		probably null	Het
Safb	A	G	17: 56,892,169 (GRCm39)		probably benign	Het
Scnn1g	A	G	7: 121,341,486 (GRCm39)	D216G	probably benign	Het
Septin7	A	G	9: 25,215,048 (GRCm39)	E345G	possibly damaging	Het
Sult2a5	A	T	7: 13,398,983 (GRCm39)	K197*	probably null	Het
Suv39h1	C	A	X: 7,929,138 (GRCm39)	R397L	probably damaging	Homo
Thbs4	T	A	13: 92,891,674 (GRCm39)	M814L	possibly damaging	Het
Tmem14a	T	A	1: 21,299,805 (GRCm39)		probably benign	Het
Tmprss11d	C	A	5: 86,457,159 (GRCm39)	A167S	probably damaging	Het
Ttn	C	A	2: 76,629,252 (GRCm39)	C14362F	probably damaging	Het
Usp15	T	C	10: 123,004,272 (GRCm39)	I161V	possibly damaging	Het
Vmn1r67	T	C	7: 10,181,138 (GRCm39)	L134P	probably damaging	Het
Wdr74	A	G	19: 8,713,586 (GRCm39)	E73G	possibly damaging	Het
Zbtb49	A	T	5: 38,358,402 (GRCm39)	M617K	possibly damaging	Het
Zc3h3	G	A	15: 75,628,483 (GRCm39)	T937I	probably benign	Het
Zeb2	C	T	2: 45,000,028 (GRCm39)	V25M	probably null	Het
Zfp108	T	C	7: 23,961,197 (GRCm39)	F596S	probably damaging	Het
Zfyve1	T	A	12: 83,641,618 (GRCm39)	N13Y	possibly damaging	Het
Zswim2	T	C	2: 83,754,105 (GRCm39)	D185G	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
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'- TCAGAGTACACCCAGGCATG -3'
(R):5'- ACTTGAACATGCACAGTGATGTG -3'

Sequencing Primer
(F):5'- TACACCCAGGCATGGTGCAG -3'
(R):5'- GAACACTCCACCGTATGTTGGTAG -3'

Posted On

2018-08-01