Mutagenetix > Incidental Mutation

Incidental Mutation 'R9386:Alg1'

710353

Institutional Source

Beutler Lab

Gene Symbol

Alg1

Ensembl Gene

ENSMUSG00000039427

Gene Name

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

Synonyms

HMT1, HMAT1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9386 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5051485-5062776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5059201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 338 (L338P)

Ref Sequence

ENSEMBL: ENSMUSP00000097770 (fasta)

Gene Model

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

AlphaFold

Q921Q3

Predicted Effect

probably damaging
Transcript: ENSMUST00000049207
AA Change: L312P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046534
Gene: ENSMUSG00000039427
AA Change: L312P

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: L338P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097770
Gene: ENSMUSG00000039427
AA Change: L338P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	A	10: 10,274,708 (GRCm39)	M750L	probably benign	Het
Ahnak2	T	A	12: 112,745,428 (GRCm39)	H673L		Het
Anapc1	A	C	2: 128,459,642 (GRCm39)	S1806A	probably benign	Het
Anks1	C	T	17: 28,272,880 (GRCm39)	T925I	probably benign	Het
Aoc1l1	A	G	6: 48,952,324 (GRCm39)	N83S	probably benign	Het
Apob	G	A	12: 8,056,629 (GRCm39)	A1704T	probably damaging	Het
Arnt	G	A	3: 95,395,687 (GRCm39)	V422M	possibly damaging	Het
Cblb	C	A	16: 51,986,701 (GRCm39)	S648*	probably null	Het
Cdk18	A	G	1: 132,044,183 (GRCm39)		probably null	Het
Celsr1	T	C	15: 85,863,231 (GRCm39)	D1267G	probably damaging	Het
Chtf18	C	T	17: 25,942,732 (GRCm39)	R399H	probably damaging	Het
Cntnap1	T	A	11: 101,076,052 (GRCm39)	Y979N	probably damaging	Het
Col22a1	T	C	15: 71,853,794 (GRCm39)	D256G	probably damaging	Het
Dbn1	C	T	13: 55,629,760 (GRCm39)	R174Q	probably damaging	Het
Dnah10	G	A	5: 124,871,507 (GRCm39)		probably null	Het
Dnah9	T	A	11: 65,838,368 (GRCm39)	D3143V	probably damaging	Het
Dnajc6	G	A	4: 101,494,098 (GRCm39)		probably null	Het
Dsg1b	A	G	18: 20,525,071 (GRCm39)	N169S	possibly damaging	Het
Eloa	A	G	4: 135,737,847 (GRCm39)	V371A	probably benign	Het
Epb41l4b	A	T	4: 57,076,553 (GRCm39)	V327E	probably damaging	Het
Fbxo15	A	T	18: 84,977,372 (GRCm39)	T140S	probably benign	Het
Fryl	A	T	5: 73,349,152 (GRCm39)	F3L	unknown	Het
Galnt16	T	C	12: 80,644,880 (GRCm39)	V501A	probably damaging	Het
Haus6	A	G	4: 86,502,101 (GRCm39)	I590T	probably benign	Het
Hcfc2	T	A	10: 82,574,937 (GRCm39)	F199I	probably damaging	Het
Hoxd13	A	G	2: 74,499,327 (GRCm39)	Y225C	probably damaging	Het
Hydin	T	C	8: 111,314,362 (GRCm39)	L4282P	probably benign	Het
Ing2	T	C	8: 48,127,561 (GRCm39)	E52G	probably benign	Het
Itsn2	T	C	12: 4,679,730 (GRCm39)	S180P	unknown	Het
Kansl1l	T	C	1: 66,765,129 (GRCm39)	E727G	probably damaging	Het
Klhl26	A	G	8: 70,904,156 (GRCm39)	F585L	probably benign	Het
Lce1a1	T	G	3: 92,554,190 (GRCm39)	S95R	unknown	Het
Lrp1b	A	T	2: 41,013,640 (GRCm39)	V1955E		Het
Megf6	G	A	4: 154,340,534 (GRCm39)	G583E	probably damaging	Het
Mex3a	A	G	3: 88,443,505 (GRCm39)	I194V	possibly damaging	Het
Mmp10	A	T	9: 7,503,388 (GRCm39)	Y116F	probably damaging	Het
Muc2	A	T	7: 141,279,389 (GRCm39)	D155V	probably damaging	Het
Ncam2	T	C	16: 81,252,252 (GRCm39)	C232R	probably damaging	Het
Nopchap1	T	C	10: 83,196,129 (GRCm39)	F3L	probably benign	Het
Or13n4	T	C	7: 106,423,707 (GRCm39)	I9V	probably benign	Het
Pdgfd	C	A	9: 6,293,903 (GRCm39)	A159E	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Plekha8	C	A	6: 54,605,846 (GRCm39)	T307K	probably damaging	Het
Pnpla6	T	C	8: 3,571,417 (GRCm39)		probably null	Het
Prkdc	T	G	16: 15,496,136 (GRCm39)	S776A	probably damaging	Het
Prrc2b	T	C	2: 32,104,125 (GRCm39)	I1201T	probably benign	Het
Pxmp4	C	A	2: 154,430,004 (GRCm39)	M128I	probably benign	Het
Siglech	T	C	7: 55,422,312 (GRCm39)	S306P	probably benign	Het
Strc	C	T	2: 121,198,211 (GRCm39)	E1449K	probably damaging	Het
Tchh	A	T	3: 93,354,346 (GRCm39)	Q1262L	unknown	Het
Tln2	A	T	9: 67,273,249 (GRCm39)	D410E	possibly damaging	Het
Tmem175	A	T	5: 108,787,339 (GRCm39)	Q62L	probably benign	Het
Tpm3-rs7	A	C	14: 113,552,597 (GRCm39)	M164L	probably benign	Het
Trav8d-2	G	A	14: 53,280,220 (GRCm39)	R70H	probably damaging	Het
Tsc1	T	C	2: 28,561,858 (GRCm39)	S332P	probably benign	Het
Ttc41	T	G	10: 86,548,890 (GRCm39)	I28R	probably damaging	Het
Unc93a2	C	T	17: 7,637,164 (GRCm39)	W341*	probably null	Het
Vsig10	A	C	5: 117,463,140 (GRCm39)	Y122S	probably damaging	Het
Wnk2	A	G	13: 49,220,822 (GRCm39)	W1260R	probably damaging	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
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
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'- CATGCTAAGGATGGGCTGTG -3'
(R):5'- TTGCAGCAGACAGACTGG -3'

Sequencing Primer
(F):5'- AGATGCTGTGTCCCTGTGCC -3'
(R):5'- GGTAACATGTCCCTGTGTGCAC -3'

Posted On

2022-04-18