Mutagenetix > Incidental Mutation

Incidental Mutation 'R3428:Alg5'

267947

Institutional Source

Beutler Lab

Gene Symbol

Alg5

Ensembl Gene

ENSMUSG00000036632

Gene Name

ALG5 dolichyl-phosphate beta-glucosyltransferase

Synonyms

2600005J22Rik, 1500026A19Rik

MMRRC Submission

040646-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R3428 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

54642960-54657216 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 54643006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000119260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029316] [ENSMUST00000044567] [ENSMUST00000141191] [ENSMUST00000155273] [ENSMUST00000154787] [ENSMUST00000153224]

AlphaFold

Q9DB25

Predicted Effect

probably benign
Transcript: ENSMUST00000029316

SMART Domains

Protein: ENSMUSP00000029316
Gene: ENSMUSG00000027752

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	31	166	2.3e-29	PFAM
Pfam:RNase_PH_C	191	258	8.9e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000044567
AA Change: M1K

SMART Domains

Protein: ENSMUSP00000035879
Gene: ENSMUSG00000036632
AA Change: M1K

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	63	174	2.1e-10	PFAM
Pfam:Glycos_transf_2	68	250	2.9e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140935

Predicted Effect

probably null
Transcript: ENSMUST00000141191
AA Change: M1K

SMART Domains

Protein: ENSMUSP00000118818
Gene: ENSMUSG00000036632
AA Change: M1K

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143387

Predicted Effect

probably null
Transcript: ENSMUST00000155273
AA Change: M1K

SMART Domains

Protein: ENSMUSP00000119260
Gene: ENSMUSG00000036632
AA Change: M1K

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142377

Predicted Effect

probably benign
Transcript: ENSMUST00000154787

SMART Domains

Protein: ENSMUSP00000115876
Gene: ENSMUSG00000027752

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	19	106	5.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153224

SMART Domains

Protein: ENSMUSP00000118780
Gene: ENSMUSG00000027752

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	31	130	2e-16	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (34/34)

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 glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
PHENOTYPE: Embryos homozygous for an ENU-induced mutation arrest unturned at E9.5 and display no left-right asymmetry. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	A	8: 25,157,620 (GRCm39)	C110F	probably damaging	Het
Adamts14	C	T	10: 61,060,153 (GRCm39)	E452K	probably benign	Het
Adrb3	T	C	8: 27,718,209 (GRCm39)	D80G	probably damaging	Het
Ap1g1	A	G	8: 110,570,080 (GRCm39)	E398G	probably damaging	Het
Arhgap17	A	T	7: 122,922,854 (GRCm39)	L85Q	probably damaging	Het
Bbs9	T	A	9: 22,479,183 (GRCm39)		probably benign	Het
BC034090	T	C	1: 155,117,244 (GRCm39)	I291M	probably benign	Het
Bicd1	T	C	6: 149,414,400 (GRCm39)	L371P	probably damaging	Het
Cand2	A	C	6: 115,766,668 (GRCm39)	R424S	probably benign	Het
Eng	G	T	2: 32,547,545 (GRCm39)	V29F	probably damaging	Het
Gm5828	T	A	1: 16,838,838 (GRCm39)		noncoding transcript	Het
Hspg2	T	C	4: 137,282,601 (GRCm39)	L3447P	probably damaging	Het
Igtp	G	A	11: 58,097,419 (GRCm39)	V197I	probably damaging	Het
Kmt2a	T	A	9: 44,759,416 (GRCm39)	N844I	probably benign	Het
Lyzl4	T	C	9: 121,413,195 (GRCm39)	I78V	probably null	Het
Mtg2	A	G	2: 179,726,065 (GRCm39)	H225R	possibly damaging	Het
Or10a5	G	A	7: 106,635,923 (GRCm39)	R187K	probably benign	Het
Pfpl	T	A	19: 12,407,677 (GRCm39)	S643T	probably benign	Het
Prelid1	T	G	13: 55,470,007 (GRCm39)	V2G	probably benign	Het
Psma2	A	T	13: 14,791,362 (GRCm39)	K2N	probably benign	Het
Sec24d	C	T	3: 123,137,572 (GRCm39)		probably benign	Het
Setd1a	G	T	7: 127,384,493 (GRCm39)		probably benign	Het
Slc20a1	A	T	2: 129,042,202 (GRCm39)	N149I	probably benign	Het
Slc22a5	A	G	11: 53,760,152 (GRCm39)	V388A	probably benign	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trav6-7-dv9	A	G	14: 53,947,788 (GRCm39)	T97A	probably benign	Het
Trpv3	A	T	11: 73,176,767 (GRCm39)	Y382F	probably damaging	Het
Ubr2	T	C	17: 47,279,365 (GRCm39)	Y681C	probably damaging	Het
Unc80	G	A	1: 66,678,464 (GRCm39)	V2082I	probably benign	Het
Vmn2r125	A	G	4: 156,702,436 (GRCm39)	D74G	probably benign	Het
Yipf2	T	C	9: 21,500,941 (GRCm39)		probably benign	Het

Other mutations in Alg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Alg5	APN	3	54,652,140 (GRCm39)	splice site	probably benign
R2008:Alg5	UTSW	3	54,653,894 (GRCm39)	missense	possibly damaging	0.92
R3547:Alg5	UTSW	3	54,656,736 (GRCm39)	missense	probably benign	0.15
R4372:Alg5	UTSW	3	54,646,376 (GRCm39)	critical splice donor site	probably null
R4764:Alg5	UTSW	3	54,653,894 (GRCm39)	missense	possibly damaging	0.92
R5128:Alg5	UTSW	3	54,649,558 (GRCm39)	splice site	probably null
R5476:Alg5	UTSW	3	54,654,019 (GRCm39)	missense	probably benign	0.01
R5638:Alg5	UTSW	3	54,646,254 (GRCm39)	missense	probably benign	0.22
R6880:Alg5	UTSW	3	54,646,264 (GRCm39)	missense	probably damaging	1.00
R6897:Alg5	UTSW	3	54,656,063 (GRCm39)	missense	probably benign
R7317:Alg5	UTSW	3	54,656,752 (GRCm39)	missense	probably benign	0.00
R8244:Alg5	UTSW	3	54,646,221 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTCCAGGGCTTTGACTTG -3'
(R):5'- CACTCAAATAGGGTTCCAAAGGG -3'

Sequencing Primer
(F):5'- GGCTTTGACTTGCCGCAC -3'
(R):5'- GGATTTCAGGGAATCTGAG -3'

Posted On

2015-02-18