Mutagenetix > Incidental Mutations

Incidental Mutation 'R5053:Alg9'

394755

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

042643-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5053 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 50788172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 200 (G200W)

Ref Sequence

ENSEMBL: ENSMUSP00000123711 (fasta)

Gene Model

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

AlphaFold

Q8VDI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034561
AA Change: G166W

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

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: G166W

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 damaging
Transcript: ENSMUST00000159576
AA Change: G200W

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

SMART Domains

Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059
AA Change: G200W

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162073
AA Change: W142L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059
AA Change: W142L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162363

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.9%
20x: 90.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,137,369	I259F	probably damaging	Het
Adgrf2	A	G	17: 42,710,443	S497P	probably damaging	Het
Adsl	T	C	15: 80,960,450	C180R	probably damaging	Het
Ahctf1	A	G	1: 179,786,784	I448T	possibly damaging	Het
Amhr2	G	A	15: 102,447,258	V213I	probably damaging	Het
Ankrd44	A	T	1: 54,735,089	L200*	probably null	Het
As3mt	A	G	19: 46,709,054	Y87C	probably damaging	Het
Bcl11a	C	A	11: 24,164,068	F470L	probably benign	Het
Cacna2d2	A	T	9: 107,514,864	Y468F	probably damaging	Het
Cep250	A	G	2: 155,962,928	D71G	possibly damaging	Het
Clca4b	T	C	3: 144,911,121	T923A	probably benign	Het
Clec16a	T	C	16: 10,576,597	L273P	probably damaging	Het
Comtd1	T	C	14: 21,847,696	D123G	probably damaging	Het
Cpa5	A	T	6: 30,623,272	E144V	probably damaging	Het
Cyp2c37	G	A	19: 40,001,887	S343N	probably benign	Het
Dennd6a	C	A	14: 26,608,583	T103K	probably damaging	Het
Ect2l	A	G	10: 18,140,345	L733P	probably damaging	Het
Erg	T	A	16: 95,524,534	H11L	probably benign	Het
Ero1lb	T	C	13: 12,599,906	L253P	probably damaging	Het
Etfbkmt	T	A	6: 149,147,268	L135*	probably null	Het
Frmd4a	A	T	2: 4,603,921	T867S	probably damaging	Het
Gm815	C	T	19: 26,886,413	A18V	unknown	Het
Gna12	C	A	5: 140,760,727	R321L	probably benign	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Irs1	A	G	1: 82,286,922	L1191P	probably benign	Het
Kcp	G	T	6: 29,496,958	Q551K	probably benign	Het
Klhl11	C	T	11: 100,472,200	V177M	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Llcfc1	A	G	6: 41,685,335	H91R	possibly damaging	Het
Lmnb2	A	T	10: 80,904,655	M223K	probably damaging	Het
Mbd6	C	T	10: 127,286,441	V173I	probably benign	Het
Mme	T	A	3: 63,364,849	V623E	probably damaging	Het
Ndc1	T	C	4: 107,374,218	S119P	probably damaging	Het
Nfs1	A	C	2: 156,126,398	C383G	probably damaging	Het
Nphp4	A	G	4: 152,544,462		probably null	Het
Oca2	C	A	7: 56,323,580	Q411K	probably benign	Het
Olfr1061	A	G	2: 86,413,338	F238S	probably damaging	Het
Olfr1211	C	A	2: 88,930,253	V21F	probably benign	Het
Olfr1377	G	A	11: 50,985,310	G203D	probably damaging	Het
Olfr479	A	G	7: 108,055,534	H184R	probably benign	Het
Olfr748	T	A	14: 50,710,511	Y60*	probably null	Het
Pcdh7	A	T	5: 57,721,601	T493S	probably damaging	Het
Phf20	T	C	2: 156,273,862	S368P	probably benign	Het
Pla2g2e	T	G	4: 138,880,375	V22G	possibly damaging	Het
Plxna1	A	T	6: 89,322,460	H1736Q	probably damaging	Het
Prlr	C	A	15: 10,325,385	Q215K	probably benign	Het
Prpf6	T	C	2: 181,649,453	V687A	probably benign	Het
Ptprq	T	A	10: 107,563,202	T1951S	probably damaging	Het
Sec31a	G	T	5: 100,393,214	Q345K	possibly damaging	Het
Serpina3k	T	C	12: 104,343,214		probably null	Het
Sertad3	T	A	7: 27,476,522	V127E	probably benign	Het
Sf3b1	A	T	1: 54,997,177	N912K	probably benign	Het
Shq1	A	G	6: 100,655,259	L202P	probably damaging	Het
Sp8	C	T	12: 118,849,604	T398M	probably damaging	Het
Tmem150c	A	T	5: 100,083,740	D125E	probably benign	Het
Trim3	G	T	7: 105,617,761	D470E	probably damaging	Het
Ubap1	T	A	4: 41,387,315	C88*	probably null	Het
Unc79	T	A	12: 103,104,748	D1124E	probably damaging	Het
Usf3	T	C	16: 44,217,187	S677P	probably benign	Het
Vmn1r76	T	C	7: 11,930,314		probably null	Het
Zfp819	C	T	7: 43,617,146	T275I	probably damaging	Het
Zranb2	T	A	3: 157,541,159	D161E	probably damaging	Het

Other mutations in Alg9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Alg9	APN	9	50775377	splice site	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
R1773:Alg9	UTSW	9	50779096	missense	probably benign	0.30
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
R5308:Alg9	UTSW	9	50822711	missense	possibly damaging	0.95
R6803:Alg9	UTSW	9	50789560	missense	probably benign	0.37
R6994:Alg9	UTSW	9	50792122	nonsense	probably null
R6998:Alg9	UTSW	9	50789621	missense	possibly damaging	0.95
R7298:Alg9	UTSW	9	50779061	missense	probably damaging	0.97
R7480:Alg9	UTSW	9	50822628	missense	probably benign	0.06
R7561:Alg9	UTSW	9	50842774	missense	possibly damaging	0.95
R7578:Alg9	UTSW	9	50789535	missense	probably benign
R7721:Alg9	UTSW	9	50776642	missense	probably damaging	0.99
R7829:Alg9	UTSW	9	50788171	missense	probably damaging	1.00
R7847:Alg9	UTSW	9	50789605	missense	possibly damaging	0.62
R7878:Alg9	UTSW	9	50842783	missense	probably benign	0.00
R8113:Alg9	UTSW	9	50808780	nonsense	probably null
R8257:Alg9	UTSW	9	50779087	missense	possibly damaging	0.62
R9214:Alg9	UTSW	9	50806245	missense	probably damaging	1.00
RF003:Alg9	UTSW	9	50775427	unclassified	probably benign
RF006:Alg9	UTSW	9	50775417	unclassified	probably benign
RF058:Alg9	UTSW	9	50775427	unclassified	probably benign
Z1177:Alg9	UTSW	9	50788173	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCATTTCCTCTTAAGTAAGGAGC -3'
(R):5'- TGAAGCAGACAGAGACCTGC -3'

Sequencing Primer
(F):5'- CCTCTTAAGTAAGGAGCTTTTTCG -3'
(R):5'- CTGCCCAGGATTCGGGTTATAAAAG -3'

Posted On

2016-06-15