Mutagenetix > Incidental Mutations

Incidental Mutation 'R1773:Alg9'

196825

Institutional Source

Beutler Lab

Gene Symbol

Alg9

Ensembl Gene

ENSMUSG00000032059

Gene Name

asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase)

Synonyms

B430313H07Rik, 8230402H15Rik, Dibd1

MMRRC Submission

039804-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R1773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50779096 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 133 (T133A)

Ref Sequence

ENSEMBL: ENSMUSP00000034561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000159576] [ENSMUST00000162073]

Predicted Effect

probably benign
Transcript: ENSMUST00000034561
AA Change: T133A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: T133A

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	60	482	3.5e-127	PFAM
low complexity region	598	611	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159576
AA Change: T133A

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059
AA Change: T133A

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	60	228	1e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162073
AA Change: T133A

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059
AA Change: T133A

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	60	167	7.5e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176894

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,580,595	K334E	probably damaging	Het
Abca12	A	G	1: 71,288,596	Y1442H	probably damaging	Het
Acot12	A	G	13: 91,757,557	T79A	probably benign	Het
Adipoq	A	C	16: 23,155,238	Q26P	unknown	Het
Akap13	T	A	7: 75,683,451	N1582K	possibly damaging	Het
Anks3	T	C	16: 4,947,294	T418A	probably benign	Het
Ano3	A	C	2: 110,761,455	L37R	probably damaging	Het
Ano9	A	G	7: 141,108,378	F178L	possibly damaging	Het
Arhgef12	A	G	9: 43,005,542		probably null	Het
Arl16	T	A	11: 120,465,763	I137F	possibly damaging	Het
Brpf1	T	A	6: 113,319,931	S959T	possibly damaging	Het
C530008M17Rik	G	T	5: 76,867,205	A42S	possibly damaging	Het
Ccdc27	C	T	4: 154,041,765	R89Q	unknown	Het
Cd109	A	C	9: 78,703,724	Q1207H	probably benign	Het
Cd14	A	T	18: 36,725,304	V366D	possibly damaging	Het
Cep290	G	A	10: 100,510,573	V538I	probably benign	Het
Cep57	G	A	9: 13,816,068	A202V	probably damaging	Het
Chl1	T	C	6: 103,647,331		probably null	Het
Cmah	T	G	13: 24,417,299	F29L	probably benign	Het
Crybg1	A	G	10: 43,992,548	V1378A	possibly damaging	Het
Cryzl2	A	G	1: 157,470,722	K227R	probably benign	Het
D130043K22Rik	T	G	13: 24,882,602	V794G	possibly damaging	Het
Ddx4	T	A	13: 112,599,902	T645S	probably benign	Het
Dhcr7	C	T	7: 143,847,458	R453C	possibly damaging	Het
Dhx8	T	C	11: 101,752,363	Y754H	possibly damaging	Het
Dip2b	T	A	15: 100,193,961	D860E	probably benign	Het
Dnah7a	T	C	1: 53,432,887		probably null	Het
Dst	A	G	1: 34,291,899	D6937G	probably damaging	Het
Dusp1	A	G	17: 26,507,107	I204T	probably damaging	Het
Dync2h1	T	A	9: 7,128,256	Q1859L	probably damaging	Het
E4f1	C	A	17: 24,446,584	G328V	probably damaging	Het
Eml5	T	C	12: 98,798,839	Y1617C	probably damaging	Het
Espn	G	T	4: 152,128,229	P622Q	probably damaging	Het
Fam184b	G	A	5: 45,584,334	P185L	possibly damaging	Het
Fam71f1	T	C	6: 29,334,153	S335P	possibly damaging	Het
Fn1	T	A	1: 71,637,383	D563V	probably damaging	Het
Gad2	A	G	2: 22,690,207	Y540C	probably benign	Het
Gdf11	T	C	10: 128,891,294	D131G	probably damaging	Het
Gm19965	T	A	1: 116,821,259	Y223*	probably null	Het
H2-M10.6	A	G	17: 36,812,184	K3R	probably benign	Het
Hid1	A	G	11: 115,348,510	Y776H	probably damaging	Het
Hivep3	A	T	4: 120,098,837	K1450I	probably damaging	Het
Icam5	T	C	9: 21,033,525	L128P	possibly damaging	Het
Idnk	T	C	13: 58,157,712	V9A	probably damaging	Het
Il4ra	A	T	7: 125,567,182	T33S	possibly damaging	Het
Ino80	A	G	2: 119,418,409	V990A	probably benign	Het
Krtap4-9	T	C	11: 99,785,570		probably benign	Het
Lrrk2	A	G	15: 91,779,981	I1974V	possibly damaging	Het
Mcm3ap	C	T	10: 76,471,160	A369V	probably benign	Het
Nek6	A	G	2: 38,582,419	M252V	probably benign	Het
Nfasc	T	A	1: 132,610,839	I443F	probably damaging	Het
Nme8	T	G	13: 19,697,036	M1L	probably damaging	Het
Npnt	T	A	3: 132,904,693	Q423L	possibly damaging	Het
Nup133	A	T	8: 123,930,983	C404*	probably null	Het
Olfr1232	A	G	2: 89,325,742	V146A	probably benign	Het
Olfr1307	A	G	2: 111,944,859	V199A	possibly damaging	Het
Olfr1535	T	C	13: 21,555,812	D70G	probably damaging	Het
Olfr262	T	C	19: 12,241,659	M1V	probably null	Het
Olfr684	T	C	7: 105,156,983	E233G	probably benign	Het
Olfr806	A	G	10: 129,738,443	L158S	probably damaging	Het
Otog	T	A	7: 46,288,159	I1764N	probably benign	Het
Oxa1l	A	G	14: 54,363,452	I127M	probably benign	Het
P4hb	C	A	11: 120,572,726	V28F	probably damaging	Het
Pbld2	C	T	10: 63,054,371	A186V	probably benign	Het
Pdzph1	G	T	17: 58,974,813	T158K	probably damaging	Het
Pgm1	T	A	5: 64,107,851		probably null	Het
Phip	A	T	9: 82,876,189	S1484T	probably benign	Het
Pikfyve	T	C	1: 65,192,271	L100P	probably damaging	Het
Pikfyve	T	C	1: 65,246,370	S923P	probably benign	Het
Pla2g4e	A	G	2: 120,244,721	S63P	probably benign	Het
Plekhh2	A	G	17: 84,599,265	E1176G	probably damaging	Het
Prlr	T	A	15: 10,325,318	Y192*	probably null	Het
Pten	T	A	19: 32,798,072	C71S	probably damaging	Het
Rbbp8nl	A	G	2: 180,281,194	L202P	probably benign	Het
Ripor2	T	A	13: 24,701,254	S491T	probably benign	Het
Robo1	A	T	16: 73,004,511	I1008F	probably benign	Het
Scg2	T	C	1: 79,435,635	N417S	probably benign	Het
Scn8a	A	G	15: 101,039,615	I1581V	probably damaging	Het
Slc22a8	T	A	19: 8,594,229	I108N	probably damaging	Het
Slc9a8	A	T	2: 167,471,465	T416S	possibly damaging	Het
Spata32	T	A	11: 103,208,818	E287V	probably damaging	Het
Spata5	T	C	3: 37,439,185	F515L	probably damaging	Het
Tgfbrap1	C	T	1: 43,075,352	G196D	probably damaging	Het
Tgm5	G	T	2: 121,077,650	T15K	possibly damaging	Het
Tmc1	C	T	19: 20,826,501		probably null	Het
Tmem177	T	C	1: 119,910,576	I124M	possibly damaging	Het
Trim30a	A	G	7: 104,435,901	F34S	probably damaging	Het
Tsn	T	C	1: 118,305,239	T112A	probably benign	Het
Tspyl5	T	G	15: 33,686,776	N341T	probably benign	Het
Vmn2r108	C	T	17: 20,469,073	C540Y	probably damaging	Het
Vrtn	C	T	12: 84,650,224	R583W	probably damaging	Het
Wnt1	T	C	15: 98,791,757	S142P	probably damaging	Het
Wrn	A	T	8: 33,343,561	I108N	probably damaging	Het
Zfhx2	A	C	14: 55,072,891	C733G	possibly damaging	Het
Zfp219	T	C	14: 52,007,106	T539A	probably damaging	Het
Zswim8	T	A	14: 20,711,530	M177K	probably damaging	Het

Other mutations in Alg9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Alg9	APN	9	50775377	utr 5 prime	probably null
IGL02792:Alg9	APN	9	50842748	missense	possibly damaging	0.90
gum_drop	UTSW	9	50805354	missense	possibly damaging	0.90
FR4976:Alg9	UTSW	9	50775431	unclassified	probably benign
R1183:Alg9	UTSW	9	50789533	missense	possibly damaging	0.82
R1270:Alg9	UTSW	9	50787572	intron	probably benign
R1575:Alg9	UTSW	9	50775502	missense	possibly damaging	0.65
R1837:Alg9	UTSW	9	50806315	missense	probably damaging	1.00
R2011:Alg9	UTSW	9	50788200	missense	probably damaging	1.00
R4324:Alg9	UTSW	9	50805343	missense	probably damaging	1.00
R4514:Alg9	UTSW	9	50805354	missense	possibly damaging	0.90
R4544:Alg9	UTSW	9	50805354	missense	possibly damaging	0.90
R4546:Alg9	UTSW	9	50805354	missense	possibly damaging	0.90
R4996:Alg9	UTSW	9	50808705	missense	probably damaging	1.00
R5007:Alg9	UTSW	9	50788224	missense	probably damaging	1.00
R5053:Alg9	UTSW	9	50788172	missense	probably damaging	1.00
R5308:Alg9	UTSW	9	50822711	missense	possibly damaging	0.95
R6803:Alg9	UTSW	9	50789560	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TGGAGGGCTTTGCTAGGATGACAC -3'
(R):5'- GGTCACTGTCCCATCACGTAACAC -3'

Sequencing Primer
(F):5'- CTAGGATGACACATTTGTTTCTGC -3'
(R):5'- gggggggAGAGCACTTG -3'

Posted On

2014-05-23