Mutagenetix > Incidental Mutation

Incidental Mutation 'R1764:Alg6'

193259

Institutional Source

Beutler Lab

Gene Symbol

Alg6

Ensembl Gene

ENSMUSG00000073792

Gene Name

ALG6 alpha-1,3-glucosyltransferase

Synonyms

E230028F23Rik

MMRRC Submission

039796-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99603901-99651697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99629815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 131 (Y131H)

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: Y131H

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000095574
Gene: ENSMUSG00000073792
AA Change: Y131H

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

0.0721

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

Validation Efficiency

94% (94/100)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,655 (GRCm39)	V401A	probably benign	Het
Abca7	G	T	10: 79,844,784 (GRCm39)	W1502L	probably damaging	Het
Adcy7	A	G	8: 89,035,468 (GRCm39)	E124G	probably benign	Het
Aif1l	G	A	2: 31,855,118 (GRCm39)	E66K	probably benign	Het
Aldh8a1	A	T	10: 21,271,392 (GRCm39)	M373L	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Arrdc4	A	T	7: 68,391,622 (GRCm39)	I215K	probably damaging	Het
Asb4	A	G	6: 5,390,798 (GRCm39)		probably null	Het
Astn1	T	C	1: 158,331,821 (GRCm39)	I305T	probably benign	Het
Atp5f1b	T	A	10: 127,919,949 (GRCm39)		probably benign	Het
Atp8a1	C	A	5: 67,788,910 (GRCm39)	M1044I	probably benign	Het
Atp9b	C	T	18: 80,952,806 (GRCm39)		probably null	Het
Brd10	T	A	19: 29,696,560 (GRCm39)	T978S	possibly damaging	Het
Btaf1	A	G	19: 36,928,518 (GRCm39)	H113R	probably benign	Het
C87436	G	T	6: 86,430,594 (GRCm39)	C338F	possibly damaging	Het
Casz1	T	C	4: 149,027,357 (GRCm39)		probably benign	Het
Cbr3	T	A	16: 93,487,370 (GRCm39)	H184Q	probably damaging	Het
Cct8l1	T	C	5: 25,722,097 (GRCm39)	S271P	possibly damaging	Het
Cdc34	A	G	10: 79,521,174 (GRCm39)	K77R	probably benign	Het
Cdc34	G	T	10: 79,521,172 (GRCm39)		probably null	Het
Cdh20	A	G	1: 104,862,070 (GRCm39)		probably benign	Het
Celsr3	A	G	9: 108,706,157 (GRCm39)	E880G	probably damaging	Het
Cers1	T	G	8: 70,774,141 (GRCm39)		probably null	Het
Cntn5	T	C	9: 9,673,988 (GRCm39)	I705V	probably benign	Het
Dennd4c	T	A	4: 86,721,247 (GRCm39)	D636E	probably damaging	Het
Dnah11	T	C	12: 118,154,560 (GRCm39)	E240G	probably benign	Het
Dnah2	T	C	11: 69,314,369 (GRCm39)	Y4100C	probably damaging	Het
Dpysl3	T	C	18: 43,496,583 (GRCm39)	E151G	probably damaging	Het
Efcab9	T	G	11: 32,474,457 (GRCm39)	T9P	possibly damaging	Het
Eif4g2	A	T	7: 110,673,694 (GRCm39)	F725Y	probably damaging	Het
Epha6	T	A	16: 59,596,091 (GRCm39)	I867F	probably null	Het
Erbin	T	C	13: 103,979,959 (GRCm39)		probably benign	Het
Evi5l	A	G	8: 4,253,560 (GRCm39)	E468G	probably damaging	Het
Filip1l	C	T	16: 57,390,401 (GRCm39)	R330W	probably damaging	Het
Fmo3	C	T	1: 162,786,142 (GRCm39)	V283M	possibly damaging	Het
Gabarapl1	A	T	6: 129,510,481 (GRCm39)	K24N	possibly damaging	Het
Gigyf1	C	T	5: 137,520,770 (GRCm39)		probably benign	Het
Gm5581	T	A	6: 131,158,362 (GRCm39)		noncoding transcript	Het
Gon4l	G	T	3: 88,799,906 (GRCm39)	K850N	probably damaging	Het
Igf2bp3	C	T	6: 49,085,980 (GRCm39)	R233H	probably damaging	Het
Iqcf4	G	A	9: 106,445,893 (GRCm39)	R85C	probably benign	Het
Kalrn	C	T	16: 34,033,243 (GRCm39)	R473Q	probably damaging	Het
Lmod2	T	A	6: 24,603,376 (GRCm39)	V117E	probably damaging	Het
Mapk11	A	G	15: 89,028,594 (GRCm39)		probably null	Het
Mcm3	G	A	1: 20,876,103 (GRCm39)	R664C	probably damaging	Het
Mex3d	A	G	10: 80,222,770 (GRCm39)	M162T	probably benign	Het
Mrgprb3	A	G	7: 48,292,771 (GRCm39)	I260T	probably benign	Het
Ncor2	G	T	5: 125,105,679 (GRCm39)	A1637D	possibly damaging	Het
Nedd4	T	A	9: 72,638,189 (GRCm39)	D441E	probably damaging	Het
Nek5	A	T	8: 22,599,928 (GRCm39)	C194S	probably damaging	Het
Nos1ap	T	C	1: 170,146,447 (GRCm39)	D369G	possibly damaging	Het
Ntrk1	G	T	3: 87,687,391 (GRCm39)	T681K	probably damaging	Het
Or13a24	T	C	7: 140,154,383 (GRCm39)	W106R	probably damaging	Het
Or4f14	A	G	2: 111,742,526 (GRCm39)	F250L	possibly damaging	Het
Otogl	C	T	10: 107,735,322 (GRCm39)	W154*	probably null	Het
Pcdh20	T	C	14: 88,706,620 (GRCm39)	T227A	possibly damaging	Het
Pcdhb17	T	C	18: 37,620,324 (GRCm39)	S705P	probably damaging	Het
Piezo2	T	C	18: 63,257,713 (GRCm39)	H335R	possibly damaging	Het
Pkn2	T	C	3: 142,499,615 (GRCm39)	Q954R	probably damaging	Het
Pramel23	C	A	4: 143,424,840 (GRCm39)	C201F	probably benign	Het
Prkcq	G	A	2: 11,237,442 (GRCm39)	V74M	probably damaging	Het
Prkrip1	A	T	5: 136,218,489 (GRCm39)		probably null	Het
Pttg1ip2	A	T	5: 5,528,943 (GRCm39)	I24N	possibly damaging	Het
Rb1cc1	A	G	1: 6,284,904 (GRCm39)		probably benign	Het
Rbm5	A	T	9: 107,644,763 (GRCm39)	Y11*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,690,805 (GRCm39)	V1082L	probably damaging	Het
Scart2	A	G	7: 139,877,178 (GRCm39)	E831G	probably benign	Het
Sel1l3	C	A	5: 53,327,789 (GRCm39)	E497*	probably null	Het
Serpina6	A	T	12: 103,620,182 (GRCm39)	I189N	probably damaging	Het
Serpinb11	A	T	1: 107,304,532 (GRCm39)	T166S	probably benign	Het
Skint7	T	C	4: 111,839,270 (GRCm39)	L188S	probably benign	Het
Slc25a45	C	T	19: 5,934,958 (GRCm39)	A269V	probably damaging	Het
Sltm	A	G	9: 70,469,082 (GRCm39)	T114A	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spen	C	A	4: 141,200,261 (GRCm39)	V2766L	probably damaging	Het
Srgap2	T	A	1: 131,247,275 (GRCm39)	I445F	possibly damaging	Het
Stox2	A	T	8: 47,647,051 (GRCm39)	Y200*	probably null	Het
Strada	C	A	11: 106,055,010 (GRCm39)	R384L	probably damaging	Het
Tctn2	G	A	5: 124,757,094 (GRCm39)		noncoding transcript	Het
Tgfbr3l	G	T	8: 4,299,282 (GRCm39)	R461L	probably benign	Het
Tmem65	A	G	15: 58,661,998 (GRCm39)		probably benign	Het
Tpst1	G	T	5: 130,143,343 (GRCm39)	V294F	possibly damaging	Het
Trim23	A	G	13: 104,335,126 (GRCm39)	Y384C	probably damaging	Het
Ube3b	C	G	5: 114,542,678 (GRCm39)	L512V	possibly damaging	Het
Ubxn4	T	A	1: 128,183,916 (GRCm39)	V92E	probably damaging	Het
Vmn2r57	A	T	7: 41,050,067 (GRCm39)	C561S	probably damaging	Het
Vwa8	A	G	14: 79,145,635 (GRCm39)	D104G	probably damaging	Het
Wdr25	T	A	12: 108,992,364 (GRCm39)	L73*	probably null	Het
Wnt9a	G	A	11: 59,221,728 (GRCm39)	A209T	probably benign	Het
Zcchc17	A	C	4: 130,223,388 (GRCm39)	C133G	probably damaging	Het
Zdhhc18	T	A	4: 133,335,987 (GRCm39)	M375L	probably benign	Het
Zfhx3	T	C	8: 109,678,276 (GRCm39)	F3109L	probably benign	Het
Zfp202	T	A	9: 40,121,762 (GRCm39)	D286E	probably benign	Het
Zzef1	T	C	11: 72,784,158 (GRCm39)	L2021P	probably benign	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
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'- CTGTAAGAGGACAGTGGAGGCTGTA -3'
(R):5'- GCAGCAGTCCTAAAGTTCAACGCA -3'

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

Posted On

2014-05-23