Mutagenetix > Incidental Mutation

Incidental Mutation 'R1378:Alg1'

162969

Institutional Source

Beutler Lab

Gene Symbol

Alg1

Ensembl Gene

ENSMUSG00000039427

Gene Name

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

Synonyms

HMT1, HMAT1

MMRRC Submission

039442-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1378 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

5051485-5062776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5061580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 406 (N406D)

Ref Sequence

ENSEMBL: ENSMUSP00000097770 (fasta)

Gene Model

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

AlphaFold

Q921Q3

Predicted Effect

probably damaging
Transcript: ENSMUST00000049207
AA Change: N380D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046534
Gene: ENSMUSG00000039427
AA Change: N380D

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 damaging
Transcript: ENSMUST00000100196
AA Change: N406D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097770
Gene: ENSMUSG00000039427
AA Change: N406D

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: ENSMUST00000142902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230238

Meta Mutation Damage Score

0.9450

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

100% (57/57)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	G	5: 36,126,030 (GRCm39)	T342A	probably damaging	Het
Atp13a4	A	T	16: 29,239,246 (GRCm39)	M825K	probably damaging	Het
Birc6	T	A	17: 74,967,450 (GRCm39)	I4117K	probably damaging	Het
Brinp2	A	T	1: 158,074,624 (GRCm39)	L499Q	possibly damaging	Het
Brwd1	A	T	16: 95,842,570 (GRCm39)	V789D	probably benign	Het
Ccdc153	C	G	9: 44,154,958 (GRCm39)	L94V	probably null	Het
Ccna1	A	G	3: 54,957,150 (GRCm39)	V237A	probably damaging	Het
Cct7	T	A	6: 85,444,545 (GRCm39)		probably null	Het
Cenpb	C	T	2: 131,020,230 (GRCm39)		probably benign	Het
Chrne	T	A	11: 70,505,956 (GRCm39)		probably null	Het
Clstn3	T	A	6: 124,415,378 (GRCm39)	D662V	probably damaging	Het
Clu	G	T	14: 66,212,350 (GRCm39)	C189F	probably damaging	Het
Cstdc5	A	G	16: 36,179,929 (GRCm39)	C63R	probably benign	Het
Cul7	C	T	17: 46,973,052 (GRCm39)	R1388C	probably damaging	Het
Dgka	T	C	10: 128,571,696 (GRCm39)		probably null	Het
Dop1b	A	G	16: 93,567,280 (GRCm39)	T1236A	probably benign	Het
Edn2	A	G	4: 120,019,095 (GRCm39)	E28G	probably benign	Het
Elp3	T	C	14: 65,830,380 (GRCm39)	I24V	probably benign	Het
Faap24	T	C	7: 35,092,326 (GRCm39)	E197G	probably benign	Het
Fam13a	T	A	6: 58,933,736 (GRCm39)	M285L	probably benign	Het
Gm9944	T	A	4: 144,179,773 (GRCm39)		probably benign	Het
Gsdmc3	T	C	15: 63,731,435 (GRCm39)		probably benign	Het
Gvin3	T	A	7: 106,201,373 (GRCm39)	I624F	probably damaging	Het
Ift22	A	C	5: 136,941,757 (GRCm39)	K133T	probably benign	Het
Il23r	T	A	6: 67,429,394 (GRCm39)	K316I	possibly damaging	Het
Klra17	T	A	6: 129,842,647 (GRCm39)	E217V	probably damaging	Het
Nell2	A	T	15: 95,130,402 (GRCm39)	V657E	probably damaging	Het
Nlrp4d	C	A	7: 10,098,111 (GRCm39)	K850N	probably benign	Het
Nsmce4a	C	T	7: 130,139,900 (GRCm39)	R276Q	probably benign	Het
Or10d4	T	C	9: 39,580,962 (GRCm39)	L203P	probably damaging	Het
Or4p8	T	A	2: 88,727,370 (GRCm39)	R190S	probably benign	Het
Or52s1b	T	C	7: 102,822,475 (GRCm39)	D123G	probably damaging	Het
Or52z14	A	T	7: 103,253,145 (GRCm39)	R95*	probably null	Het
Pclo	T	C	5: 14,732,327 (GRCm39)	S3610P	probably benign	Het
Pon3	T	G	6: 5,230,813 (GRCm39)	D238A	probably benign	Het
Ppp4r4	T	C	12: 103,547,751 (GRCm39)		probably benign	Het
Rad18	T	C	6: 112,658,297 (GRCm39)		probably benign	Het
Ralgapa1	T	C	12: 55,723,711 (GRCm39)	Y1652C	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Sel1l	T	C	12: 91,799,871 (GRCm39)		probably null	Het
Soat1	A	G	1: 156,294,352 (GRCm39)		probably benign	Het
Tex15	A	T	8: 34,065,244 (GRCm39)	N1558I	probably damaging	Het
Tmem132d	A	T	5: 128,346,011 (GRCm39)	F170L	probably benign	Het
Tro	G	T	X: 149,438,567 (GRCm39)	P30Q	probably damaging	Het
Tubg2	G	T	11: 101,047,699 (GRCm39)	E95*	probably null	Het
Unc45b	G	A	11: 82,827,678 (GRCm39)	S725N	probably benign	Het
Vmn2r7	A	G	3: 64,599,025 (GRCm39)	S511P	possibly damaging	Het
Vps35l	G	T	7: 118,393,795 (GRCm39)	E515*	probably null	Het
Vps35l	A	T	7: 118,393,796 (GRCm39)	E515V	probably damaging	Het
Zfp174	G	A	16: 3,667,353 (GRCm39)	E181K	probably benign	Het

Other mutations in Alg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01731:Alg1	APN	16	5,062,383 (GRCm39)	missense	probably benign	0.27
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
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

Predicted Primers

PCR Primer
(F):5'- CTCTGGATGGGAAAGCCTTGAGTG -3'
(R):5'- TGAGAAGCTACCTTTGAGCCCTCTG -3'

Sequencing Primer
(F):5'- TGTCAGGATCAAATCTCCCAGTG -3'
(R):5'- TTGAGCCCTCTGCTCCC -3'

Posted On

2014-03-17