Mutagenetix > Incidental Mutation

Incidental Mutation 'R5444:Alg6'

427322

Institutional Source

Beutler Lab

Gene Symbol

Alg6

Ensembl Gene

ENSMUSG00000073792

Gene Name

ALG6 alpha-1,3-glucosyltransferase

Synonyms

E230028F23Rik

MMRRC Submission

043009-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5444 (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 99629816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 131 (Y131C)

Ref Sequence

ENSEMBL: ENSMUSP00000095574 (fasta)

Gene Model

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

AlphaFold

Q3TAE8

Predicted Effect

probably benign
Transcript: ENSMUST00000097961
AA Change: Y131C

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000095574
Gene: ENSMUSG00000073792
AA Change: Y131C

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

0.1438

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (66/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	G	5: 26,684,735 (GRCm39)		noncoding transcript	Het
Adam11	A	G	11: 102,663,674 (GRCm39)	Q284R	probably damaging	Het
Adamts17	T	A	7: 66,691,647 (GRCm39)	H610Q	probably benign	Het
Apol9b	T	C	15: 77,619,963 (GRCm39)	I253T	probably damaging	Het
Asb4	T	A	6: 5,431,040 (GRCm39)	I425N	probably damaging	Het
Atic	T	C	1: 71,615,876 (GRCm39)	L474P	probably damaging	Het
B3glct	C	T	5: 149,669,985 (GRCm39)	T318I	probably damaging	Het
Bbs7	T	C	3: 36,666,199 (GRCm39)	K22E	possibly damaging	Het
Cdk17	T	G	10: 93,053,823 (GRCm39)		probably null	Het
Cemip	T	A	7: 83,631,499 (GRCm39)	T438S	probably damaging	Het
Chd2	T	C	7: 73,122,833 (GRCm39)	E967G	probably damaging	Het
Cyp2d26	G	T	15: 82,676,739 (GRCm39)	D202E	probably benign	Het
Dhdds	G	A	4: 133,698,447 (GRCm39)	R295*	probably null	Het
Eef2kmt	G	A	16: 5,066,959 (GRCm39)		probably benign	Het
Fn3krp	G	A	11: 121,312,430 (GRCm39)		probably null	Het
Gjc3	G	A	5: 137,955,809 (GRCm39)	L159F	probably damaging	Het
Gm28434	T	C	5: 88,127,147 (GRCm39)		probably benign	Het
Gp2	G	A	7: 119,053,821 (GRCm39)	P47S	possibly damaging	Het
Irf7	C	T	7: 140,844,732 (GRCm39)		probably benign	Het
Itgb8	T	C	12: 119,201,573 (GRCm39)		probably benign	Het
Kcnb2	A	T	1: 15,781,716 (GRCm39)	I863F	probably benign	Het
Lamb1	T	C	12: 31,348,908 (GRCm39)	F647L	possibly damaging	Het
Mccc1	T	A	3: 36,030,891 (GRCm39)	M392L	probably benign	Het
Mtmr10	T	C	7: 63,938,149 (GRCm39)		probably null	Het
Ncstn	A	C	1: 171,900,406 (GRCm39)	V223G	possibly damaging	Het
Neurl3	G	T	1: 36,308,571 (GRCm39)	F80L	probably damaging	Het
Nf1	T	C	11: 79,334,785 (GRCm39)	M869T	possibly damaging	Het
Nfatc2	A	G	2: 168,376,810 (GRCm39)		probably benign	Het
Nnat	T	C	2: 157,403,137 (GRCm39)	F26S	possibly damaging	Het
Nos1ap	T	C	1: 170,202,820 (GRCm39)	Y109C	probably damaging	Het
Nup205	T	A	6: 35,166,124 (GRCm39)	D194E	probably damaging	Het
Or10ak11	T	A	4: 118,687,308 (GRCm39)	I109L	probably benign	Het
Or3a4	T	C	11: 73,944,803 (GRCm39)	S261G	probably benign	Het
Or52k2	C	T	7: 102,254,076 (GRCm39)	R172*	probably null	Het
Or5b109	A	T	19: 13,212,322 (GRCm39)	Q236L	probably benign	Het
Or9g3	A	T	2: 85,590,263 (GRCm39)	F152L	probably benign	Het
Ostf1	A	G	19: 18,558,677 (GRCm39)	L202S	probably benign	Het
Pdzrn4	T	A	15: 92,668,806 (GRCm39)	M747K	probably damaging	Het
Plxnb1	A	G	9: 108,935,521 (GRCm39)	D1019G	probably benign	Het
Pnlip	A	G	19: 58,661,595 (GRCm39)	I95V	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppp1r13b	T	A	12: 111,805,122 (GRCm39)	T197S	probably benign	Het
Rasgrp3	A	T	17: 75,810,370 (GRCm39)	I357F	probably damaging	Het
Rbmxl2	G	C	7: 106,809,044 (GRCm39)	G110R	probably damaging	Het
Relch	C	T	1: 105,654,109 (GRCm39)	T826I	possibly damaging	Het
Rgs22	T	C	15: 36,015,773 (GRCm39)	D1037G	possibly damaging	Het
Rnf215	A	G	11: 4,085,843 (GRCm39)	I107M	probably benign	Het
Rybp	A	T	6: 100,264,231 (GRCm39)	M3K	probably damaging	Het
Sgo2b	T	C	8: 64,379,590 (GRCm39)	S1081G	possibly damaging	Het
Slfn10-ps	C	T	11: 82,926,113 (GRCm39)		noncoding transcript	Het
Spag17	T	C	3: 99,963,468 (GRCm39)	V1062A	probably benign	Het
Sult2a1	A	T	7: 13,569,944 (GRCm39)	I96K	possibly damaging	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Thbs3	T	C	3: 89,130,692 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,179,066 (GRCm39)	L255S	possibly damaging	Het
Trank1	T	A	9: 111,222,026 (GRCm39)	L2921Q	probably benign	Het
Trappc14	A	T	5: 138,259,260 (GRCm39)		probably null	Het
Tuba8	A	T	6: 121,203,060 (GRCm39)		probably benign	Het
Vmn2r25	T	C	6: 123,805,451 (GRCm39)	I469V	probably benign	Het
Zfp1007	A	T	5: 109,823,502 (GRCm39)	Y649*	probably null	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
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
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'- AGGATGGTGGTAGAGCTGTA -3'
(R):5'- GCAGTCCTAAAGTTCAACGCA -3'

Sequencing Primer
(F):5'- TGGTGGTAGAGCTGTAGGAAGAC -3'
(R):5'- GTCCTAAAGTTCAACGCATCCTG -3'

Posted On

2016-09-01