Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01634:Alg9'

93580

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01634

Quality Score

Status

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 50775377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000042391] [ENSMUST00000159576] [ENSMUST00000162073] [ENSMUST00000176145] [ENSMUST00000176335] [ENSMUST00000177384]

AlphaFold

Q8VDI9

Predicted Effect

probably benign
Transcript: ENSMUST00000034561

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059

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: ENSMUST00000042391

SMART Domains

Protein: ENSMUSP00000037082
Gene: ENSMUSG00000037845

Domain	Start	End	E-Value	Type
Pfam:DUF2431	7	176	1.4e-44	PFAM
low complexity region	258	269	N/A	INTRINSIC
SCOP:d1jjca_	487	516	6e-4	SMART
FDX-ACB	528	622	5.88e-17	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000159576

SMART Domains

Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059

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

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

noncoding transcript
Transcript: ENSMUST00000162363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162442

Predicted Effect

probably benign
Transcript: ENSMUST00000176145

SMART Domains

Protein: ENSMUSP00000135796
Gene: ENSMUSG00000037845

Domain	Start	End	E-Value	Type
Pfam:DUF2431	7	115	4.2e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176160

Predicted Effect

probably benign
Transcript: ENSMUST00000176335

SMART Domains

Protein: ENSMUSP00000135658
Gene: ENSMUSG00000037845

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
SCOP:d1jjca_	285	314	3e-4	SMART
FDX-ACB	326	420	5.88e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176894

Predicted Effect

probably benign
Transcript: ENSMUST00000177384

Coding Region Coverage

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034H15Rik	A	T	1: 191,900,904		noncoding transcript	Het
4933421I07Rik	C	T	7: 42,447,699	D63N	probably benign	Het
Anln	T	C	9: 22,360,475	T695A	probably benign	Het
Aox4	G	T	1: 58,221,930	D141Y	possibly damaging	Het
Arhgap21	C	A	2: 20,914,644	Q84H	probably benign	Het
Arnt	G	A	3: 95,470,398		probably benign	Het
Atp8a2	T	A	14: 59,998,062	Y677F	probably benign	Het
Car6	C	T	4: 150,198,153	V12M	probably benign	Het
Cd209d	A	T	8: 3,877,974		probably null	Het
Ctnna1	T	A	18: 35,223,448	V390E	probably damaging	Het
Cypt4	T	A	9: 24,625,656	N147K	possibly damaging	Het
Dnah10	C	A	5: 124,821,341	A3729E	probably damaging	Het
Dusp8	A	G	7: 142,084,423	V156A	probably benign	Het
Ecm1	G	A	3: 95,734,899	P458L	probably damaging	Het
Fat3	T	G	9: 15,998,358	Y2116S	probably damaging	Het
Fscn3	T	A	6: 28,430,538	Y236N	probably damaging	Het
Gaa	G	A	11: 119,274,076	S265N	possibly damaging	Het
Gas7	T	C	11: 67,674,231		probably benign	Het
Gbp8	T	C	5: 105,018,572	K297R	probably damaging	Het
Gm1818	G	A	12: 48,556,209		noncoding transcript	Het
Gm5114	G	T	7: 39,408,647	T516K	probably benign	Het
Hectd1	A	G	12: 51,803,779	S165P	probably damaging	Het
Hoxb4	G	T	11: 96,318,900	R44L	probably damaging	Het
Ivd	G	A	2: 118,876,382	R285H	probably damaging	Het
Krtap20-2	T	C	16: 89,206,089	F59S	unknown	Het
Megf8	G	A	7: 25,358,781		probably benign	Het
Mgat4d	A	T	8: 83,368,116	M261L	possibly damaging	Het
Mlc1	A	T	15: 88,974,718		probably benign	Het
Mmp20	T	A	9: 7,635,148	Y43*	probably null	Het
Morc3	G	A	16: 93,873,237	V767I	probably benign	Het
Myo15	A	G	11: 60,495,472	T1808A	probably damaging	Het
Notch4	T	C	17: 34,572,588	F574L	probably damaging	Het
Npas3	G	A	12: 53,947,163	V164M	probably damaging	Het
Nptx1	A	G	11: 119,544,672	Y273H	probably damaging	Het
Oaf	T	C	9: 43,224,004	N159S	probably damaging	Het
Olfr1216	T	A	2: 89,013,444	I207F	probably damaging	Het
Olfr519	A	T	7: 108,894,085	F107L	probably benign	Het
Olfr994	A	T	2: 85,430,439	L130H	probably damaging	Het
Pgm1	T	C	5: 64,100,974	F101L	probably benign	Het
Pkd1l3	A	C	8: 109,667,525		probably null	Het
Plcd1	C	T	9: 119,073,789	R527H	probably damaging	Het
Rexo2	C	T	9: 48,468,915	E206K	probably damaging	Het
Ropn1	C	A	16: 34,666,778	T28N	possibly damaging	Het
Ropn1	A	T	16: 34,666,771	I26F	probably damaging	Het
Rpgrip1l	T	A	8: 91,252,544	S998C	probably benign	Het
Rpgrip1l	C	A	8: 91,252,543	S998I	probably benign	Het
Scap	T	C	9: 110,378,789		probably null	Het
Sec23b	T	C	2: 144,559,230	Y4H	probably damaging	Het
Sfrp4	C	A	13: 19,623,630	D66E	possibly damaging	Het
Slc25a36	T	C	9: 97,080,481	T13A	probably benign	Het
Synpr	A	T	14: 13,608,576	I119F	possibly damaging	Het
Tamm41	A	C	6: 115,016,098	H109Q	probably benign	Het
Tet1	A	T	10: 62,878,588	I476K	possibly damaging	Het
Tg	A	T	15: 66,729,566	I142F	probably benign	Het
Thada	A	T	17: 84,393,358		probably null	Het
Triobp	T	C	15: 78,993,368	L1654P	probably damaging	Het
Trpm7	A	G	2: 126,826,818	V726A	probably damaging	Het
Txndc15	T	G	13: 55,721,625	V197G	probably damaging	Het
Ubr3	A	T	2: 69,973,572	T1169S	probably benign	Het
Uhmk1	C	T	1: 170,207,113		probably null	Het
Vmn2r16	T	A	5: 109,340,311	M350K	probably benign	Het
Vmn2r77	G	A	7: 86,811,649	V728I	probably benign	Het
Wipf1	G	A	2: 73,447,881	P7S	unknown	Het
Zswim3	A	G	2: 164,820,002	D134G	probably damaging	Het

Other mutations in Alg9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-09