Mutagenetix > Incidental Mutation

Incidental Mutation 'R2020:Alg6'

223794

Institutional Source

Beutler Lab

Gene Symbol

Alg6

Ensembl Gene

ENSMUSG00000073792

Gene Name

ALG6 alpha-1,3-glucosyltransferase

Synonyms

E230028F23Rik

MMRRC Submission

040029-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99603901-99651697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99626369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 59 (N59S)

Ref Sequence

ENSEMBL: ENSMUSP00000095574 (fasta)

Gene Model

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

AlphaFold

Q3TAE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000097961
AA Change: N59S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095574
Gene: ENSMUSG00000073792
AA Change: N59S

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

noncoding transcript
Transcript: ENSMUST00000124147

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: ENSMUST00000141870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144805

Meta Mutation Damage Score

0.3487

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

99% (87/88)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	A	1: 158,796,482 (GRCm39)		noncoding transcript	Het
Adam17	G	A	12: 21,399,876 (GRCm39)	R177C	probably damaging	Het
Ak7	G	A	12: 105,711,591 (GRCm39)		probably null	Het
Akap9	T	C	5: 4,011,967 (GRCm39)	V890A	probably damaging	Het
Alkbh5	G	T	11: 60,429,375 (GRCm39)	A43S	probably benign	Het
Anxa2	C	A	9: 69,391,099 (GRCm39)	D162E	probably damaging	Het
Arap1	A	G	7: 101,050,725 (GRCm39)	H1136R	probably benign	Het
Arhgap18	A	G	10: 26,730,900 (GRCm39)	R121G	probably benign	Het
Arhgef4	A	T	1: 34,762,891 (GRCm39)	T716S	unknown	Het
Atg2a	T	C	19: 6,300,299 (GRCm39)		probably null	Het
Ccdc27	T	C	4: 154,117,770 (GRCm39)	I480V	probably null	Het
Cdipt	T	C	7: 126,576,105 (GRCm39)	V20A	possibly damaging	Het
Cgrrf1	C	T	14: 47,067,902 (GRCm39)		probably benign	Het
Chd7	G	A	4: 8,855,226 (GRCm39)	V2152I	probably benign	Het
Chd8	T	A	14: 52,452,698 (GRCm39)	S1274C	probably damaging	Het
Chuk	A	T	19: 44,095,782 (GRCm39)	M17K	possibly damaging	Het
Col14a1	C	T	15: 55,309,577 (GRCm39)		probably benign	Het
Col20a1	G	A	2: 180,654,956 (GRCm39)		probably null	Het
Cped1	A	G	6: 22,143,963 (GRCm39)	I570V	probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Ddx27	A	C	2: 166,875,691 (GRCm39)	Q674P	probably damaging	Het
Dennd6a	T	A	14: 26,333,158 (GRCm39)	F131L	probably damaging	Het
Dhx38	G	A	8: 110,283,501 (GRCm39)		probably benign	Het
Dido1	G	T	2: 180,301,378 (GRCm39)	N2175K	unknown	Het
Dmxl1	T	A	18: 50,022,625 (GRCm39)	Y1654*	probably null	Het
Dock7	T	A	4: 98,847,338 (GRCm39)	H1658L	probably damaging	Het
Dync2h1	T	A	9: 7,122,772 (GRCm39)	E2061D	probably damaging	Het
Dync2h1	T	C	9: 7,162,925 (GRCm39)	I555V	probably benign	Het
Eif2ak2	T	C	17: 79,171,392 (GRCm39)	E337G	possibly damaging	Het
Fabp12	T	A	3: 10,315,209 (GRCm39)	D46V	probably benign	Het
Fcgbpl1	T	C	7: 27,855,019 (GRCm39)	S1882P	probably benign	Het
Fech	C	T	18: 64,611,798 (GRCm39)	E79K	probably damaging	Het
Flnc	A	T	6: 29,444,362 (GRCm39)	I693F	probably damaging	Het
Foxp2	G	A	6: 15,324,643 (GRCm39)	C97Y	possibly damaging	Het
Grin2b	A	G	6: 135,710,894 (GRCm39)	M884T	probably benign	Het
Gtf2ird1	T	C	5: 134,445,947 (GRCm39)	D28G	probably damaging	Het
Gtf3c4	C	A	2: 28,723,906 (GRCm39)	G468W	possibly damaging	Het
Ift172	A	T	5: 31,424,585 (GRCm39)	L201*	probably null	Het
Ift70a1	A	G	2: 75,811,279 (GRCm39)	V268A	probably benign	Het
Il1rl2	C	A	1: 40,404,374 (GRCm39)	S498R	probably damaging	Het
Ildr1	C	T	16: 36,545,903 (GRCm39)	R489W	probably damaging	Het
Itga10	G	A	3: 96,559,806 (GRCm39)	G487D	probably damaging	Het
Klk1b8	A	G	7: 43,448,640 (GRCm39)	N128D	probably benign	Het
Lgr6	G	A	1: 135,003,013 (GRCm39)	T79M	probably damaging	Het
Med6	T	C	12: 81,620,651 (GRCm39)	T232A	probably benign	Het
Mgat4e	A	G	1: 134,469,060 (GRCm39)	L328P	probably damaging	Het
Mttp	A	G	3: 137,824,163 (GRCm39)	Y138H	probably damaging	Het
Ngef	T	C	1: 87,473,690 (GRCm39)	R31G	probably benign	Het
Nipsnap2	C	A	5: 129,830,287 (GRCm39)		probably null	Het
Nlgn2	G	T	11: 69,719,267 (GRCm39)	N194K	probably damaging	Het
Or1q1	G	A	2: 36,887,664 (GRCm39)	V281M	possibly damaging	Het
Or4a72	A	T	2: 89,405,305 (GRCm39)	M255K	possibly damaging	Het
Or5b98	G	A	19: 12,931,696 (GRCm39)	V248I	possibly damaging	Het
Or5m13b	A	G	2: 85,754,087 (GRCm39)	I158M	probably benign	Het
Or8c16	A	G	9: 38,130,728 (GRCm39)	Y203C	possibly damaging	Het
Pcca	T	A	14: 123,050,634 (GRCm39)	M101K	possibly damaging	Het
Plekha6	A	G	1: 133,212,708 (GRCm39)	T671A	possibly damaging	Het
Prex2	G	A	1: 11,232,536 (GRCm39)	V868M	probably damaging	Het
Prkcq	G	A	2: 11,284,332 (GRCm39)	V501I	probably benign	Het
Prom1	T	A	5: 44,168,595 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 76,051,398 (GRCm39)	V41A	probably damaging	Het
Rab39	C	T	9: 53,597,698 (GRCm39)	G189E	possibly damaging	Het
Ret	T	C	6: 118,157,343 (GRCm39)	K236E	possibly damaging	Het
Rfx6	G	A	10: 51,596,153 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,352,744 (GRCm39)	T3916A	probably damaging	Het
Rpn1	A	G	6: 88,072,665 (GRCm39)	N336S	probably damaging	Het
Sag	G	A	1: 87,733,037 (GRCm39)	A2T	probably damaging	Het
Sco2	T	C	15: 89,256,063 (GRCm39)	Y197C	probably damaging	Het
Sec23b	T	C	2: 144,408,864 (GRCm39)	I183T	possibly damaging	Het
Sec24b	C	T	3: 129,781,377 (GRCm39)	V1166M	probably damaging	Het
Slc27a5	A	T	7: 12,727,339 (GRCm39)	F361Y	probably damaging	Het
Spaca9	A	G	2: 28,586,013 (GRCm39)	L17P	probably damaging	Het
Sqor	T	C	2: 122,646,027 (GRCm39)		probably null	Het
Stx18	A	G	5: 38,292,588 (GRCm39)	H230R	probably damaging	Het
Tas2r130	A	T	6: 131,607,732 (GRCm39)	I21N	probably damaging	Het
Tcaf3	A	G	6: 42,570,658 (GRCm39)	S365P	possibly damaging	Het
Tinagl1	G	A	4: 130,060,765 (GRCm39)	H351Y	probably damaging	Het
Tmc2	T	C	2: 130,074,305 (GRCm39)	Y333H	probably damaging	Het
Trp53bp2	A	T	1: 182,270,384 (GRCm39)	T395S	probably damaging	Het
Tsc22d1	T	C	14: 76,655,773 (GRCm39)	S751P	probably damaging	Het
Ttn	A	G	2: 76,657,368 (GRCm39)		probably benign	Het
Ugdh	T	C	5: 65,574,268 (GRCm39)	Y425C	probably damaging	Het
Vmn1r115	G	A	7: 20,578,094 (GRCm39)	L273F	probably null	Het
Vmn2r109	A	T	17: 20,761,448 (GRCm39)	C636*	probably null	Het
Vmn2r59	A	C	7: 41,693,203 (GRCm39)	Y466D	probably damaging	Het
Zic5	C	T	14: 122,702,242 (GRCm39)	G163D	unknown	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
R1033:Alg6	UTSW	4	99,650,270 (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
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'- TTGTGATAGTATCAGACACAAATTGT -3'
(R):5'- TGAGAGTGATCCTTAAGCTTGTAAAAC -3'

Sequencing Primer
(F):5'- AGAATAGAGCAACAATATGTCCCAG -3'
(R):5'- GTCAGATCACACAGCATCTAA -3'

Posted On

2014-08-25