Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01731:Alg1'

105498

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alg1

Ensembl Gene

ENSMUSG00000039427

Gene Name

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

Synonyms

HMT1, HMAT1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01731

Quality Score

Status

Chromosome

Chromosomal Location

5051485-5062776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5062383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 422 (R422C)

Ref Sequence

ENSEMBL: ENSMUSP00000046534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049207] [ENSMUST00000064635] [ENSMUST00000100196] [ENSMUST00000139584]

AlphaFold

Q921Q3

Predicted Effect

probably benign
Transcript: ENSMUST00000049207
AA Change: R422C

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000046534
Gene: ENSMUSG00000039427
AA Change: R422C

Domain	Start	End	E-Value	Type
transmembrane domain	5	23	N/A	INTRINSIC
Pfam:Glycos_transf_1	246	422	8e-14	PFAM
Pfam:Glyco_trans_1_4	250	400	1.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000064635

SMART Domains

Protein: ENSMUSP00000068003
Gene: ENSMUSG00000022544

Domain	Start	End	E-Value	Type
Pfam:FAM86	6	99	2.7e-42	PFAM
Pfam:Methyltransf_16	119	299	2.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100196
AA Change: R448C

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097770
Gene: ENSMUSG00000039427
AA Change: R448C

Domain	Start	End	E-Value	Type
transmembrane domain	5	23	N/A	INTRINSIC
Pfam:Glycos_transf_1	270	447	2.4e-13	PFAM
Pfam:Glyco_trans_1_4	276	426	1.5e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132225

Predicted Effect

probably benign
Transcript: ENSMUST00000139584

SMART Domains

Protein: ENSMUSP00000123572
Gene: ENSMUSG00000022544

Domain	Start	End	E-Value	Type
Pfam:FAM86	1	100	2.7e-62	PFAM
Pfam:Methyltransf_16	119	299	2e-23	PFAM
low complexity region	311	322	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230238

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430093F15Rik	T	A	19: 10,762,711 (GRCm39)		probably benign	Het
Abca13	T	C	11: 9,199,749 (GRCm39)		probably benign	Het
Abcc6	G	A	7: 45,652,034 (GRCm39)	P611L	possibly damaging	Het
Acsl6	A	G	11: 54,241,385 (GRCm39)	E547G	probably benign	Het
Aldh1b1	T	C	4: 45,803,472 (GRCm39)	F337L	possibly damaging	Het
Ankrd23	A	G	1: 36,573,147 (GRCm39)	L75S	probably damaging	Het
Arid5b	T	C	10: 67,933,439 (GRCm39)	H578R	probably damaging	Het
Atp10a	G	T	7: 58,447,310 (GRCm39)	W684L	probably benign	Het
Bzw2	T	C	12: 36,157,647 (GRCm39)		probably null	Het
C2cd2	A	T	16: 97,671,372 (GRCm39)	I509K	probably damaging	Het
Card11	T	C	5: 140,868,057 (GRCm39)	T864A	possibly damaging	Het
Ces1f	A	G	8: 93,993,948 (GRCm39)	S278P	possibly damaging	Het
Chd8	T	C	14: 52,450,111 (GRCm39)	I208V	probably benign	Het
Cstf2t	T	C	19: 31,061,738 (GRCm39)	S425P	probably benign	Het
Cxcl1	A	G	5: 91,039,436 (GRCm39)	T60A	probably benign	Het
Diaph1	G	T	18: 37,986,762 (GRCm39)		probably benign	Het
Dnai4	T	C	4: 102,919,632 (GRCm39)	I139V	probably benign	Het
Exoc3l	T	G	8: 106,019,587 (GRCm39)	K394T	probably benign	Het
Fabp4	T	C	3: 10,270,293 (GRCm39)		probably benign	Het
Fam234b	T	A	6: 135,188,903 (GRCm39)	F169L	possibly damaging	Het
Hectd1	C	A	12: 51,849,593 (GRCm39)	D204Y	possibly damaging	Het
Hephl1	A	T	9: 14,981,066 (GRCm39)	Y789N	probably damaging	Het
Igfbp6	C	A	15: 102,053,252 (GRCm39)	N90K	probably benign	Het
Khdrbs1	A	T	4: 129,619,462 (GRCm39)	D226E	probably benign	Het
Lipo4	T	A	19: 33,490,013 (GRCm39)	Q163L	probably damaging	Het
Med13l	T	C	5: 118,880,472 (GRCm39)	I1188T	probably benign	Het
Mki67	T	C	7: 135,298,278 (GRCm39)	E2252G	probably benign	Het
Nepn	G	T	10: 52,276,660 (GRCm39)	R132L	probably benign	Het
Nlrp9b	T	A	7: 19,757,342 (GRCm39)	L193*	probably null	Het
Ntn1	A	G	11: 68,276,244 (GRCm39)	S235P	probably damaging	Het
Nup210l	G	T	3: 90,061,873 (GRCm39)	R684L	probably damaging	Het
Obi1	T	C	14: 104,716,738 (GRCm39)	D545G	probably damaging	Het
Obp2b	A	G	2: 25,629,293 (GRCm39)	S154G	possibly damaging	Het
Or10ag59	A	G	2: 87,406,282 (GRCm39)	T285A	probably benign	Het
Or4f57	A	G	2: 111,790,980 (GRCm39)	V146A	probably benign	Het
Or51b6b	T	A	7: 103,310,053 (GRCm39)	T135S	probably benign	Het
Or5p1	A	T	7: 107,916,682 (GRCm39)	I194F	probably benign	Het
Polr3b	A	T	10: 84,467,704 (GRCm39)	R95*	probably null	Het
Prelid2	C	T	18: 42,070,714 (GRCm39)	V40M	probably benign	Het
Ptprb	T	G	10: 116,208,781 (GRCm39)	L2205R	probably damaging	Het
R3hcc1l	T	C	19: 42,551,240 (GRCm39)	V79A	probably benign	Het
Stam2	A	G	2: 52,598,162 (GRCm39)	I259T	probably damaging	Het
Tdpoz4	A	T	3: 93,704,189 (GRCm39)	N162I	possibly damaging	Het
Tuba3a	A	G	6: 125,259,721 (GRCm39)	V75A	possibly damaging	Het
Vmn2r73	A	T	7: 85,506,757 (GRCm39)	*852K	probably null	Het
Zfp7	C	T	15: 76,772,505 (GRCm39)	Q69*	probably null	Het
Zfp865	G	T	7: 5,032,875 (GRCm39)	A287S	probably benign	Het
Zmpste24	T	A	4: 120,955,081 (GRCm39)	Q39L	probably benign	Het

Other mutations in Alg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02536:Alg1	APN	16	5,057,023 (GRCm39)	nonsense	probably null
IGL02576:Alg1	APN	16	5,062,393 (GRCm39)	missense	possibly damaging	0.89
IGL02961:Alg1	APN	16	5,052,861 (GRCm39)	missense	probably benign	0.45
FR4976:Alg1	UTSW	16	5,062,425 (GRCm39)	frame shift	probably null
R1378:Alg1	UTSW	16	5,061,580 (GRCm39)	missense	probably damaging	1.00
R1797:Alg1	UTSW	16	5,057,007 (GRCm39)	missense	probably benign	0.00
R3898:Alg1	UTSW	16	5,054,253 (GRCm39)	missense	possibly damaging	0.90
R5589:Alg1	UTSW	16	5,053,086 (GRCm39)	missense	probably benign	0.11
R5716:Alg1	UTSW	16	5,057,820 (GRCm39)	missense	probably damaging	0.96
R8768:Alg1	UTSW	16	5,060,416 (GRCm39)	missense	probably damaging	1.00
R8849:Alg1	UTSW	16	5,051,532 (GRCm39)	missense	possibly damaging	0.67
R8868:Alg1	UTSW	16	5,061,557 (GRCm39)	missense	probably benign	0.21
R9373:Alg1	UTSW	16	5,056,990 (GRCm39)	missense	probably benign	0.19
R9386:Alg1	UTSW	16	5,059,201 (GRCm39)	missense	probably damaging	1.00
R9460:Alg1	UTSW	16	5,060,425 (GRCm39)	missense	probably damaging	1.00
R9540:Alg1	UTSW	16	5,061,595 (GRCm39)	missense	probably benign	0.00
R9557:Alg1	UTSW	16	5,057,820 (GRCm39)	missense	probably damaging	0.96
Z1177:Alg1	UTSW	16	5,057,831 (GRCm39)	missense	probably benign	0.06

Posted On

2014-01-21