Mutagenetix > Incidental Mutation

Incidental Mutation 'R8113:Alg9'

631013

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

067542-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 50808780 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 519 (Q519*)

Ref Sequence

ENSEMBL: ENSMUSP00000034561 (fasta)

Gene Model

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

AlphaFold

Q8VDI9

Predicted Effect

probably null
Transcript: ENSMUST00000034561
AA Change: Q519*

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: Q519*

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 null
Transcript: ENSMUST00000175728
AA Change: Q34*

Predicted Effect

probably benign
Transcript: ENSMUST00000177320

SMART Domains

Protein: ENSMUSP00000134818
Gene: ENSMUSG00000032059

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: 99.6%
20x: 98.7%

Validation Efficiency

96% (72/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	T	C	8: 88,321,803	S625P	probably damaging	Het
Agpat1	T	C	17: 34,611,612	V170A	probably damaging	Het
Apol8	C	T	15: 77,750,136	R80H	probably benign	Het
Arhgap25	G	T	6: 87,488,305	S118*	probably null	Het
Arhgap30	T	A	1: 171,397,518	Y47*	probably null	Het
Arhgap42	C	T	9: 9,011,433	D451N	probably damaging	Het
Cabp2	T	A	19: 4,085,582	F91I	probably damaging	Het
Ccdc30	T	C	4: 119,373,746	E108G	probably benign	Het
Cfap99	T	C	5: 34,301,419	S53P	probably damaging	Het
Clec5a	C	T	6: 40,579,427	R135H	possibly damaging	Het
Cops8	T	G	1: 90,603,603	D18E	probably benign	Het
Cped1	A	T	6: 22,233,481	M779L	possibly damaging	Het
Cyp4x1	G	A	4: 115,110,066	H438Y	probably damaging	Het
Disc1	A	T	8: 125,088,275	T293S	probably benign	Het
Ercc1	T	C	7: 19,350,177	L113S	probably damaging	Het
Ermp1	G	T	19: 29,615,796	N765K	probably benign	Het
Fam83c	A	G	2: 155,834,820	I10T	probably benign	Het
Farp1	T	C	14: 121,275,596	V788A	probably benign	Het
Fbn1	C	G	2: 125,477,569	G92R	probably damaging	Het
Fsd1	T	A	17: 55,995,881	M328K	probably benign	Het
Fzd3	C	A	14: 65,202,813	S636I	probably benign	Het
Gapvd1	A	G	2: 34,704,318	S886P	probably damaging	Het
Gatad2b	T	A	3: 90,341,722	D22E	probably benign	Het
Gm10436	T	C	12: 88,177,080	Y329C	probably benign	Het
Gm30302	G	A	13: 49,786,072	R721C	probably benign	Het
Gm7168	A	T	17: 13,948,976	K202*	probably null	Het
Gmps	T	C	3: 63,980,269	I54T	probably damaging	Het
Gp6	A	G	7: 4,394,115	I107T	probably benign	Het
Gpat2	T	C	2: 127,431,347	V217A	possibly damaging	Het
Hdlbp	T	A	1: 93,417,195	I863F	probably damaging	Het
Hmcn1	A	C	1: 150,749,090	I1021M	possibly damaging	Het
Igkv6-14	C	T	6: 70,435,103	A66T	probably benign	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Iqch	A	G	9: 63,454,573	I925T	probably benign	Het
Kcnt1	A	G	2: 25,901,211	E522G	possibly damaging	Het
Kremen2	C	G	17: 23,743,802	E103D	probably damaging	Het
Lig4	G	T	8: 9,973,485	N98K	probably benign	Het
Lrrc3b	T	G	14: 15,358,232	I125L	probably benign	Het
Lrrc4	T	C	6: 28,829,903	D148G	probably damaging	Het
Lrsam1	A	G	2: 32,947,889	Y218H	possibly damaging	Het
Mmrn2	G	A	14: 34,397,636	V191I	probably benign	Het
Nadk	T	A	4: 155,570,670		probably null	Het
Napb	C	A	2: 148,709,431	A61S	possibly damaging	Het
Ncan	T	A	8: 70,108,571	D582V	possibly damaging	Het
Ncl	T	C	1: 86,356,642	D244G	possibly damaging	Het
Nlrp14	A	G	7: 107,192,508	N800S	possibly damaging	Het
Nlrp9b	C	T	7: 20,019,335	T55M	probably benign	Het
Nobox	G	A	6: 43,306,017	T228I	probably benign	Het
Npffr1	C	A	10: 61,613,971	P8H	possibly damaging	Het
Nrg2	T	C	18: 36,021,103	Y587C	probably damaging	Het
Nsd1	T	G	13: 55,245,621	V448G	probably benign	Het
Olfr1016	A	G	2: 85,799,667	L201P	probably damaging	Het
Olfr228	T	G	2: 86,483,068	I225L	probably damaging	Het
Olfr263	T	A	13: 21,133,201	V142D	probably benign	Het
Olfr513	G	T	7: 108,755,231	C125F	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Ppp5c	T	C	7: 17,009,007	T229A	probably benign	Het
Prr5	C	T	15: 84,693,792	R101C	probably damaging	Het
Psg22	T	C	7: 18,723,062	M290T	probably benign	Het
Pzp	C	T	6: 128,513,731		probably null	Het
Rapgef6	T	C	11: 54,625,958	V347A	probably benign	Het
Rttn	A	T	18: 89,010,916	H586L	probably damaging	Het
Sema3f	A	T	9: 107,688,076	I259K	possibly damaging	Het
Sgpp1	A	T	12: 75,716,600	L269Q	probably damaging	Het
Slc22a8	A	C	19: 8,605,539	I195L	probably benign	Het
Slc35a5	T	C	16: 45,142,188	T425A	unknown	Het
Stard13	G	A	5: 151,063,505	T180I	probably damaging	Het
Stard9	G	A	2: 120,704,430	G3723S	probably benign	Het
Svil	A	T	18: 5,062,385	T902S	probably damaging	Het
Tnfaip8l3	T	A	9: 54,027,137	R185W	probably damaging	Het
Ttn	A	T	2: 76,760,049	D21105E	probably benign	Het
Vmn2r109	T	A	17: 20,554,467	M209L	probably benign	Het
Vmn2r125	A	G	4: 156,351,347	H340R	probably damaging	Het
Zfp946	T	C	17: 22,455,500	C412R	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
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
R9511:Alg9	UTSW	9	50806225	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'- GAAGGGTTGTCTGTTAAGCAAC -3'
(R):5'- AACTCAACTGTGTGCTTTCCAC -3'

Sequencing Primer
(F):5'- TGTTAAGCAACAGGTCCGC -3'
(R):5'- GTGCTTTCCACAGACATTTAAGAGAG -3'

Posted On

2020-06-30