Mutagenetix > Incidental Mutation

Incidental Mutation 'R9511:Alg9'

718174

Institutional Source

Beutler Lab

Gene Symbol

Alg9

Ensembl Gene

ENSMUSG00000032059

Gene Name

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

Synonyms

B430313H07Rik, 8230402H15Rik, Dibd1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9511 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 50806225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 436 (Y436S)

Ref Sequence

ENSEMBL: ENSMUSP00000034561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000162073] [ENSMUST00000177320]

AlphaFold

Q8VDI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034561
AA Change: Y436S

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

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: Y436S

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: ENSMUST00000162073

SMART Domains

Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059

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

Predicted Effect

probably benign
Transcript: ENSMUST00000175728

Predicted Effect

probably damaging
Transcript: ENSMUST00000177320
AA Change: Y53S

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

SMART Domains

Protein: ENSMUSP00000134818
Gene: ENSMUSG00000032059
AA Change: Y53S

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	2	99	4.3e-15	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,615,504		probably benign	Het
Abca13	T	A	11: 9,328,130	S3103R	probably benign	Het
Ankar	G	A	1: 72,680,002	R563C	probably benign	Het
Ankrd34a	C	A	3: 96,598,085	R202S	probably benign	Het
Art4	T	A	6: 136,854,615	N176I	possibly damaging	Het
Bivm	A	G	1: 44,143,090	E486G	possibly damaging	Het
Ccdc3	C	A	2: 5,138,279	Q116K	probably damaging	Het
Cdc42bpb	G	A	12: 111,294,938	P1656S	probably benign	Het
Cdh6	T	C	15: 13,034,591	D661G	probably damaging	Het
Chek1	T	C	9: 36,713,451	N368S	probably benign	Het
Dnah11	A	T	12: 117,914,617	F3924L	probably damaging	Het
Dusp7	T	C	9: 106,370,926	I251T	probably damaging	Het
Dysf	T	A	6: 84,113,668	W988R	probably damaging	Het
Dzip1l	T	C	9: 99,637,657	V79A	possibly damaging	Het
Ebf1	A	G	11: 44,924,566	I344V	probably benign	Het
Ern2	T	C	7: 122,177,600	E336G	probably benign	Het
Fat4	T	C	3: 38,980,653	L2818P	probably damaging	Het
Gjb3	T	C	4: 127,326,338	S134G	probably damaging	Het
Gm10647	T	C	9: 66,798,474	F108L	unknown	Het
Gm19410	A	T	8: 35,790,694	D762V	probably damaging	Het
Gm8251	T	G	1: 44,059,694	D748A	probably benign	Het
Gper1	A	G	5: 139,426,383	K161R	probably benign	Het
Grin1	A	G	2: 25,297,414	M628T	probably damaging	Het
Gsdmc	A	T	15: 63,778,048	D331E	probably benign	Het
Haus3	C	A	5: 34,168,227	W29C	probably damaging	Het
Il10ra	T	C	9: 45,256,392	E289G	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnma1	T	C	14: 23,311,725	T1133A	possibly damaging	Het
Ksr1	G	A	11: 79,033,268	T458M	possibly damaging	Het
Mc5r	T	A	18: 68,339,494	M308K	possibly damaging	Het
Mis18a	T	C	16: 90,721,637	S146G	possibly damaging	Het
Mrpl50	G	A	4: 49,514,501	R57*	probably null	Het
Mtfmt	C	T	9: 65,435,865	R18C	probably benign	Het
Nanos1	T	A	19: 60,756,975	I237N	probably damaging	Het
Ncor1	TGC	TGCGGC	11: 62,433,623		probably benign	Het
Ndst3	T	A	3: 123,606,906	E450D	probably damaging	Het
Nek10	C	A	14: 14,828,511	T111K	probably benign	Het
Nipal2	T	C	15: 34,584,687	Y245C	probably damaging	Het
Npat	T	A	9: 53,562,106	D399E	probably benign	Het
Olfr1454	T	C	19: 13,063,755	S115P	probably damaging	Het
Opa1	A	G	16: 29,610,920	S378G	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Pex16	A	T	2: 92,379,214		probably null	Het
Plec	A	T	15: 76,174,697	I3680N	probably damaging	Het
Plin3	A	T	17: 56,284,225	V185E	probably damaging	Het
Prex1	T	A	2: 166,571,561	D1512V	probably damaging	Het
Ptpn22	T	A	3: 103,885,597	S355T	probably benign	Het
Scn5a	A	G	9: 119,522,545	I790T	probably benign	Het
Sema6d	T	C	2: 124,658,023	F340L	probably damaging	Het
Sh2b1	AGCTC	AGCTCCGCCACGGGGACCCGCTC	7: 126,467,578		probably benign	Het
Slc22a2	A	G	17: 12,610,029	T341A	probably damaging	Het
Slc6a6	T	C	6: 91,744,940	Y374H	probably damaging	Het
Slitrk3	T	G	3: 73,050,939	S167R	possibly damaging	Het
Smchd1	G	A	17: 71,443,904	H340Y	possibly damaging	Het
Sorcs1	C	T	19: 50,678,083	R129Q	probably benign	Het
Sox9	A	G	11: 112,785,175	T397A	possibly damaging	Het
Tnpo1	C	A	13: 98,867,113	R245L	possibly damaging	Het
Traip	T	A	9: 107,961,586	M183K	probably damaging	Het
Trpc6	A	T	9: 8,680,418	E882D	probably benign	Het
Uba6	C	A	5: 86,140,360	G491V	probably damaging	Het
Uqcrfs1	A	T	13: 30,545,054	V65E	probably benign	Het
Urgcp	T	C	11: 5,718,128	D113G	probably damaging	Het
Wdr76	C	T	2: 121,542,495	T503M	probably damaging	Het
Zfp27	T	C	7: 29,894,216	T775A	possibly damaging	Het
Zfp518b	A	T	5: 38,672,052	V870E	possibly damaging	Het
Zfp932	T	A	5: 110,007,311	H63Q	possibly damaging	Het
Zkscan6	C	A	11: 65,821,991	T250N	probably damaging	Het
Zmat2	A	T	18: 36,797,905	K161N	possibly damaging	Het
Zyg11a	A	G	4: 108,205,223	L127P	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
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
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
R9497:Alg9	UTSW	9	50800136	missense	probably damaging	0.97
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'- GCTAATGCAATGAAGCCGAAATATG -3'
(R):5'- ATGAGAGAGGAGAGCCATTTCC -3'

Sequencing Primer
(F):5'- TGGAGTCATAATACTAAAACATGCCC -3'
(R):5'- AGAGGAGAGCCATTTCCTTTTTATGC -3'

Posted On

2022-07-18