Mutagenetix > Incidental Mutations

Incidental Mutation 'R4514:Alg9'

332806

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

041588-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4514 (G1)

Quality Score

225

Status

Not 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: 99.4%
3x: 98.6%
10x: 96.9%
20x: 94.1%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	G	8: 24,818,136	T51P	probably damaging	Het
Akr1c20	A	C	13: 4,507,844	V201G	probably damaging	Het
Arpp21	T	A	9: 112,177,677	T155S	probably damaging	Het
Atm	T	A	9: 53,493,039	Q1334L	probably damaging	Het
Bptf	G	A	11: 107,077,692	T1055M	probably damaging	Het
Cd3g	C	A	9: 44,973,584	A121S	possibly damaging	Het
Cenpn	A	G	8: 116,933,396	Y68C	probably damaging	Het
Clock	A	G	5: 76,230,199	I618T	probably benign	Het
Cp	A	G	3: 19,988,013	M982V	probably damaging	Het
Csf3r	T	A	4: 126,039,860	S611T	possibly damaging	Het
Csn3	A	G	5: 87,930,138	T168A	unknown	Het
Cylc2	C	G	4: 51,229,651	T331R	unknown	Het
D630003M21Rik	T	C	2: 158,204,802	T752A	probably benign	Het
Defb34	A	T	8: 19,126,506	D71V	probably damaging	Het
Dync1h1	T	A	12: 110,657,139	D3615E	possibly damaging	Het
Etl4	A	T	2: 20,661,898	T167S	probably damaging	Het
F5	T	A	1: 164,151,997		probably benign	Het
Got1l1	C	T	8: 27,198,485	M279I	probably benign	Het
Grm7	A	G	6: 111,358,304	T559A	possibly damaging	Het
Ifit1	A	T	19: 34,648,513	R350*	probably null	Het
Ighv2-5	T	C	12: 113,685,596	N79S	possibly damaging	Het
Igkv17-127	A	G	6: 67,861,514	I70V	possibly damaging	Het
Itga8	T	C	2: 12,182,736	S711G	probably benign	Het
Kndc1	A	G	7: 139,910,286	T235A	probably benign	Het
Lct	T	C	1: 128,300,514	I1081V	probably benign	Het
Lrrc8b	G	T	5: 105,479,953	C55F	probably damaging	Het
Lrwd1	T	C	5: 136,131,548	T311A	probably benign	Het
Mapk14	T	C	17: 28,724,824	F129S	probably damaging	Het
Mdga2	A	G	12: 66,716,722	I200T	probably damaging	Het
Mocos	T	A	18: 24,683,212	S615R	probably damaging	Het
Myh4	T	C	11: 67,255,569	V1456A	probably benign	Het
Myh9	T	C	15: 77,764,000	I1759V	probably benign	Het
Nat8f5	G	A	6: 85,817,423	T185I	possibly damaging	Het
Nav3	T	C	10: 109,694,082	I2133V	possibly damaging	Het
Ncam2	T	A	16: 81,512,996	M458K	probably benign	Het
Nphp1	T	C	2: 127,748,087	S532G	probably benign	Het
Olfr1184	T	C	2: 88,487,365	V211A	probably benign	Het
Olfr649	C	T	7: 104,189,391	R272H	probably benign	Het
Oplah	A	G	15: 76,297,955	L1035P	probably damaging	Het
Pask	T	A	1: 93,322,133	Q515L	probably benign	Het
Poglut1	A	T	16: 38,549,416	F35I	probably benign	Het
Ppp1ca	T	G	19: 4,195,055	I319S	probably benign	Het
Psg25	T	A	7: 18,529,608	R97*	probably null	Het
Sars2	T	C	7: 28,742,284		probably null	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Slc16a7	T	G	10: 125,233,439		probably null	Het
Slc7a8	C	G	14: 54,735,790	G240A	possibly damaging	Het
St6gal2	A	T	17: 55,483,017	N351Y	probably benign	Het
Susd5	T	C	9: 114,095,924	F292L	probably benign	Het
Tmco5	T	A	2: 116,880,314	D38E	probably damaging	Het
Tubgcp2	G	A	7: 139,996,071	P893L	possibly damaging	Het
Uncx	A	G	5: 139,546,767	I196V	possibly damaging	Het
Zeb1	G	A	18: 5,759,007	C138Y	probably damaging	Het
Zfp609	A	G	9: 65,703,695	I662T	possibly damaging	Het
Zfp985	G	A	4: 147,583,563	C296Y	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
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
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'- ATGCTCAGACCCTTGTCACAC -3'
(R):5'- GTACAGAGGTCACATCCCAC -3'

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

Posted On

2015-08-18