Mutagenetix > Incidental Mutations

Incidental Mutation 'R4544:Alg9'

333684

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

041779-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4544 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 50805354 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 409 (T409M)

Ref Sequence

ENSEMBL: ENSMUSP00000034561 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034561
AA Change: T409M

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: T409M

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

possibly damaging
Transcript: ENSMUST00000177320
AA Change: T26M

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134818
Gene: ENSMUSG00000032059
AA Change: T26M

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (58/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	C	13: 4,507,844	V201G	probably damaging	Het
Atf7	A	G	15: 102,534,327	V449A	probably benign	Het
C1s1	A	G	6: 124,531,540	S497P	probably benign	Het
Ccnyl1	G	T	1: 64,723,576	M347I	probably benign	Het
Chil4	C	A	3: 106,210,606	R116L	probably damaging	Het
Cmpk2	A	G	12: 26,478,017	E411G	probably damaging	Het
Cmya5	G	A	13: 93,091,918	R2221*	probably null	Het
Csmd1	A	T	8: 16,710,636	F161Y	possibly damaging	Het
Cspg4	T	A	9: 56,888,629	L1216Q	possibly damaging	Het
Dppa3	A	G	6: 122,626,767		probably benign	Het
Ednra	A	G	8: 77,674,911		probably null	Het
Fancd2	A	G	6: 113,572,642		probably null	Het
Fastkd1	C	T	2: 69,712,311	E51K	probably damaging	Het
Fndc1	T	A	17: 7,773,544	D440V	unknown	Het
Gm10093	A	T	17: 78,492,959	T460S	probably benign	Het
Gm11808	C	T	4: 3,973,244	R106H	probably benign	Het
Gm9934	A	G	7: 93,052,980		noncoding transcript	Het
Ifi205	T	C	1: 174,026,573	I171M	possibly damaging	Het
Ifi213	T	C	1: 173,582,127		probably null	Het
Insig2	A	T	1: 121,312,192		probably benign	Het
Kdm7a	T	C	6: 39,175,472	R97G	probably benign	Het
Krt23	G	A	11: 99,478,276	T397M	probably benign	Het
Lepr	G	A	4: 101,768,228	V527I	possibly damaging	Het
Lmo2	C	T	2: 103,976,037	P25L	probably damaging	Het
Lsr	C	T	7: 30,971,976	V111M	probably damaging	Het
Mest	T	C	6: 30,740,680	W13R	probably damaging	Het
Mfn2	A	G	4: 147,887,452	V224A	probably benign	Het
Mkx	T	C	18: 7,000,651	Y97C	probably damaging	Het
Mndal	A	T	1: 173,875,664	Y58*	probably null	Het
Myo9b	T	C	8: 71,327,941	V494A	probably damaging	Het
Nek1	C	T	8: 61,016,304	Q132*	probably null	Het
Olfr446	C	T	6: 42,927,414	S61L	probably damaging	Het
Olfr774	A	C	10: 129,238,158	N3T	probably damaging	Het
Osbpl6	T	C	2: 76,584,492	V409A	possibly damaging	Het
Pde8a	A	T	7: 81,328,099	R713S	probably damaging	Het
Pex10	T	C	4: 155,070,495	Y235H	probably benign	Het
Pik3cb	T	A	9: 99,039,759	K1050I	probably damaging	Het
Prss56	A	G	1: 87,184,642	D85G	probably damaging	Het
Psg26	T	C	7: 18,478,539	N297S	probably damaging	Het
Rdh16f1	T	C	10: 127,790,837	L253S	probably benign	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Slc7a8	C	G	14: 54,735,790	G240A	possibly damaging	Het
Slc8b1	G	A	5: 120,531,153		probably null	Het
Sorbs1	G	A	19: 40,311,850	T575M	probably damaging	Het
Syne3	T	A	12: 104,959,469	K313M	probably damaging	Het
Tas2r108	A	G	6: 40,493,808	T73A	probably benign	Het
Ttn	T	C	2: 76,822,588		probably null	Het
Ubr3	G	A	2: 69,956,093	M850I	probably benign	Het
Vmn2r78	A	T	7: 86,921,191	M306L	probably benign	Het
Vmn2r9	T	G	5: 108,847,685	M366L	probably benign	Het
Zan	C	G	5: 137,383,834	M5150I	unknown	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
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
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'- TCAGACCCTTGTCACACCTG -3'
(R):5'- GTACAGAGGTCACATCCCAC -3'

Sequencing Primer
(F):5'- ACACCTGCTGTTCTGCGTG -3'
(R):5'- ACATGACTTCCCTTTGAGAGCAG -3'

Posted On

2015-08-18