Mutagenetix > Incidental Mutations

Incidental Mutation 'R4515:Alg6'

332837

Institutional Source

Beutler Lab

Gene Symbol

Alg6

Ensembl Gene

ENSMUSG00000073792

Gene Name

asparagine-linked glycosylation 6 (alpha-1,3,-glucosyltransferase)

Synonyms

E230028F23Rik

MMRRC Submission

041589-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4515 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99715664-99763460 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 99752786 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097961] [ENSMUST00000107004] [ENSMUST00000139799]

Predicted Effect

probably benign
Transcript: ENSMUST00000097961

SMART Domains

Protein: ENSMUSP00000095574
Gene: ENSMUSG00000073792

Domain	Start	End	E-Value	Type
Pfam:Alg6_Alg8	14	488	2.1e-148	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107004

SMART Domains

Protein: ENSMUSP00000102617
Gene: ENSMUSG00000073792

Domain	Start	End	E-Value	Type
Pfam:Alg6_Alg8	12	59	8.2e-21	PFAM
Pfam:Alg6_Alg8	57	204	5.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139799

SMART Domains

Protein: ENSMUSP00000121980
Gene: ENSMUSG00000073792

Domain	Start	End	E-Value	Type
Pfam:Alg6_Alg8	12	57	2.5e-19	PFAM
Pfam:Alg6_Alg8	54	158	2.2e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144805

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

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 first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,647,744	K630N	probably damaging	Het
Acss2	C	A	2: 155,556,363	L335I	probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078		probably null	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,992,951	E52K	probably benign	Het
Ces1a	T	A	8: 93,020,904	N500Y	probably damaging	Het
Chd3	G	T	11: 69,349,877	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090	L39P	probably damaging	Het
Ckm	A	G	7: 19,420,284	K319E	probably damaging	Het
Cnot6	C	T	11: 49,702,536		probably null	Het
Copg1	A	G	6: 87,907,546		probably benign	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,601,387	D807E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Glod4	T	A	11: 76,243,571	D25V	probably damaging	Het
Gm11492	A	G	11: 87,568,057	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830		probably null	Het
Hemgn	T	C	4: 46,396,477	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474	T26A	unknown	Het
Macf1	T	C	4: 123,493,988	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,763,938	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,578,191	T49I	probably benign	Het
Oc90	A	G	15: 65,892,393	L138P	probably damaging	Het
Olfr834	T	G	9: 18,987,982		probably null	Het
Olfr954	C	T	9: 39,462,231	R264*	probably null	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Paqr3	T	A	5: 97,103,361	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,278,896	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,672,725	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693		probably null	Het
Sipa1l2	T	C	8: 125,492,226	D124G	probably benign	Het
Slc6a12	T	A	6: 121,353,530		probably null	Het
Stk11	A	G	10: 80,116,601		probably benign	Het
Tcaf3	A	G	6: 42,589,996	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443		probably null	Het
Ugt1a10	T	A	1: 88,056,197	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	probably damaging	Het

Other mutations in Alg6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Alg6	APN	4	99753054	missense	probably damaging	1.00
IGL00816:Alg6	APN	4	99742361	missense	probably null
IGL01067:Alg6	APN	4	99741570	missense	probably benign	0.14
IGL01360:Alg6	APN	4	99742406	missense	probably benign	0.00
IGL02625:Alg6	APN	4	99746347	missense	probably damaging	1.00
R0944:Alg6	UTSW	4	99762060	missense	probably benign	0.00
R1033:Alg6	UTSW	4	99762033	missense	probably benign	0.00
R1764:Alg6	UTSW	4	99741578	missense	probably benign	0.02
R1852:Alg6	UTSW	4	99746362	missense	probably benign	0.03
R2020:Alg6	UTSW	4	99738132	missense	probably damaging	0.98
R2248:Alg6	UTSW	4	99738207	missense	probably damaging	0.98
R4976:Alg6	UTSW	4	99750728	critical splice acceptor site	probably null
R5207:Alg6	UTSW	4	99719194	missense	possibly damaging	0.79
R5444:Alg6	UTSW	4	99741579	missense	probably benign	0.09
R5739:Alg6	UTSW	4	99744500	missense	probably benign	0.01
R7060:Alg6	UTSW	4	99761961	missense	possibly damaging	0.85
R7432:Alg6	UTSW	4	99753058	missense	probably benign	0.01
R7476:Alg6	UTSW	4	99743876	missense	probably damaging	1.00
R7498:Alg6	UTSW	4	99748696	missense	probably damaging	1.00
R7585:Alg6	UTSW	4	99738134	missense	probably damaging	0.99
R8145:Alg6	UTSW	4	99746327	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGGACTGTACATGTGGCAC -3'
(R):5'- CTTTAATAGAAGAGGCAGCATGCTG -3'

Sequencing Primer
(F):5'- AAGTGGCTGTTGGCTAGA -3'
(R):5'- CAAAAGCATCAATAGCTACGGTG -3'

Posted On

2015-08-18