Mutagenetix > Incidental Mutation

Incidental Mutation 'R1033:Alg6'

95221

Institutional Source

Beutler Lab

Gene Symbol

Alg6

Ensembl Gene

ENSMUSG00000073792

Gene Name

ALG6 alpha-1,3-glucosyltransferase

Synonyms

E230028F23Rik

MMRRC Submission

039132-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99603901-99651697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99650270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 497 (S497P)

Ref Sequence

ENSEMBL: ENSMUSP00000095574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097961] [ENSMUST00000146258]

AlphaFold

Q3TAE8

Predicted Effect

probably benign
Transcript: ENSMUST00000097961
AA Change: S497P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095574
Gene: ENSMUSG00000073792
AA Change: S497P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144805

Predicted Effect

probably benign
Transcript: ENSMUST00000146258

SMART Domains

Protein: ENSMUSP00000117153
Gene: ENSMUSG00000028549

Domain	Start	End	E-Value	Type
Pfam:CENP-R	25	162	1e-63	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.7%

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 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Akap6	A	C	12: 53,116,005 (GRCm39)	D1036A	probably damaging	Het
Arhgap10	T	A	8: 77,983,976 (GRCm39)	I700L	possibly damaging	Het
Atp11a	A	G	8: 12,878,555 (GRCm39)	Y377C	probably damaging	Het
Atp2b2	A	T	6: 113,770,849 (GRCm39)		probably null	Het
Card14	T	A	11: 119,229,196 (GRCm39)	V702D	probably damaging	Het
Ccdc17	C	T	4: 116,454,077 (GRCm39)	R32*	probably null	Het
Cdh20	A	T	1: 110,012,783 (GRCm39)	D372V	probably damaging	Het
Cfap54	A	T	10: 92,675,311 (GRCm39)	I2870N	probably benign	Het
Cped1	G	T	6: 22,016,950 (GRCm39)	V100F	probably damaging	Het
Dapk1	T	C	13: 60,869,679 (GRCm39)		probably null	Het
Exoc4	G	A	6: 33,242,922 (GRCm39)	G45D	probably damaging	Het
Fam110b	A	T	4: 5,799,440 (GRCm39)	N286I	probably benign	Het
Fbxo10	A	T	4: 45,062,236 (GRCm39)	C97S	probably damaging	Het
Frem3	A	T	8: 81,421,786 (GRCm39)	H2062L	probably benign	Het
Frk	T	C	10: 34,484,454 (GRCm39)	C476R	probably damaging	Het
Gm10542	A	G	18: 44,337,668 (GRCm39)	T49A	probably benign	Het
Gm128	A	G	3: 95,147,322 (GRCm39)	V324A	possibly damaging	Het
Gpr141	C	T	13: 19,935,880 (GRCm39)	M298I	probably benign	Het
Gxylt1	T	C	15: 93,142,958 (GRCm39)	E369G	probably benign	Het
Hpse2	A	G	19: 42,901,638 (GRCm39)	V368A	probably benign	Het
Ice1	A	T	13: 70,754,713 (GRCm39)	S458T	probably damaging	Het
Itgb7	T	A	15: 102,131,989 (GRCm39)	D198V	probably damaging	Het
Kcnk10	A	G	12: 98,484,929 (GRCm39)	V72A	possibly damaging	Het
Magel2	A	G	7: 62,029,798 (GRCm39)	M901V	unknown	Het
Mgam	A	T	6: 40,657,558 (GRCm39)	Y971F	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mug1	A	T	6: 121,857,510 (GRCm39)	D1078V	probably damaging	Het
Myom2	G	A	8: 15,158,934 (GRCm39)	R870H	probably benign	Het
Nek8	A	T	11: 78,062,111 (GRCm39)	L71Q	probably null	Het
Nox4	T	A	7: 87,023,621 (GRCm39)	D502E	probably damaging	Het
Nsmaf	G	A	4: 6,438,054 (GRCm39)	P73S	probably damaging	Het
Nup205	C	T	6: 35,204,377 (GRCm39)	A1421V	probably benign	Het
Nxpe4	T	C	9: 48,304,533 (GRCm39)	F207L	probably damaging	Het
Or1p1	A	C	11: 74,179,492 (GRCm39)	T7P	probably damaging	Het
Or3a1	A	C	11: 74,225,462 (GRCm39)	N198K	possibly damaging	Het
Or4k38	A	T	2: 111,166,147 (GRCm39)	I92N	probably damaging	Het
Or5al7	A	G	2: 85,993,194 (GRCm39)	I33T	possibly damaging	Het
Pals2	T	C	6: 50,160,716 (GRCm39)	Y326H	probably damaging	Het
Prkdc	T	C	16: 15,585,815 (GRCm39)	L2451P	probably damaging	Het
Rad51ap2	C	T	12: 11,506,252 (GRCm39)	S58F	probably damaging	Het
Rbbp8	A	G	18: 11,875,762 (GRCm39)	R892G	probably benign	Het
Rock1	A	G	18: 10,067,535 (GRCm39)	S1333P	probably benign	Het
Rpl7	A	G	1: 16,172,728 (GRCm39)	I197T	probably benign	Het
Sar1a	C	A	10: 61,521,395 (GRCm39)	Q81K	probably damaging	Het
Shank1	A	T	7: 44,006,220 (GRCm39)	H1979L	possibly damaging	Het
Slc10a2	C	T	8: 5,154,889 (GRCm39)	V99M	probably damaging	Het
Slc22a30	G	A	19: 8,313,165 (GRCm39)	Q436*	probably null	Het
Spata31e2	G	A	1: 26,721,466 (GRCm39)	P1238L	probably benign	Het
Speer4a2	T	C	5: 26,294,125 (GRCm39)	K18E	probably benign	Het
Szt2	C	T	4: 118,244,303 (GRCm39)	R1305H	probably damaging	Het
Ubash3a	G	A	17: 31,427,186 (GRCm39)	G32S	probably damaging	Het
Vmn1r200	G	A	13: 22,580,060 (GRCm39)	D279N	probably damaging	Het
Zbtb8a	T	C	4: 129,248,014 (GRCm39)	D419G	possibly damaging	Het

Other mutations in Alg6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Alg6	APN	4	99,641,291 (GRCm39)	missense	probably damaging	1.00
IGL00816:Alg6	APN	4	99,630,598 (GRCm39)	missense	probably null
IGL01067:Alg6	APN	4	99,629,807 (GRCm39)	missense	probably benign	0.14
IGL01360:Alg6	APN	4	99,630,643 (GRCm39)	missense	probably benign	0.00
IGL02625:Alg6	APN	4	99,634,584 (GRCm39)	missense	probably damaging	1.00
R0944:Alg6	UTSW	4	99,650,297 (GRCm39)	missense	probably benign	0.00
R1764:Alg6	UTSW	4	99,629,815 (GRCm39)	missense	probably benign	0.02
R1852:Alg6	UTSW	4	99,634,599 (GRCm39)	missense	probably benign	0.03
R2020:Alg6	UTSW	4	99,626,369 (GRCm39)	missense	probably damaging	0.98
R2248:Alg6	UTSW	4	99,626,444 (GRCm39)	missense	probably damaging	0.98
R4515:Alg6	UTSW	4	99,641,023 (GRCm39)	intron	probably benign
R4976:Alg6	UTSW	4	99,638,965 (GRCm39)	critical splice acceptor site	probably null
R5207:Alg6	UTSW	4	99,607,431 (GRCm39)	missense	possibly damaging	0.79
R5444:Alg6	UTSW	4	99,629,816 (GRCm39)	missense	probably benign	0.09
R5739:Alg6	UTSW	4	99,632,737 (GRCm39)	missense	probably benign	0.01
R7060:Alg6	UTSW	4	99,650,198 (GRCm39)	missense	possibly damaging	0.85
R7432:Alg6	UTSW	4	99,641,295 (GRCm39)	missense	probably benign	0.01
R7476:Alg6	UTSW	4	99,632,113 (GRCm39)	missense	probably damaging	1.00
R7498:Alg6	UTSW	4	99,636,933 (GRCm39)	missense	probably damaging	1.00
R7585:Alg6	UTSW	4	99,626,371 (GRCm39)	missense	probably damaging	0.99
R8145:Alg6	UTSW	4	99,634,564 (GRCm39)	missense	probably damaging	0.99
R9621:Alg6	UTSW	4	99,615,131 (GRCm39)	nonsense	probably null
R9739:Alg6	UTSW	4	99,650,195 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- GCAAAGGTGAGTGATTCTCTCTTTTCCC -3'
(R):5'- TGTCGCTAAACAAGTCAGGTGCTTAAT -3'

Sequencing Primer
(F):5'- GAGTGATTCTCTCTTTTCCCTTACAG -3'
(R):5'- acaaacaaacaaacaaacaaacaaac -3'

Posted On

2014-01-05