Mutagenetix > Incidental Mutations

Incidental Mutation 'R4324:Alg9'

323967

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

041095-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 50805343 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 22 (H22Q)

Ref Sequence

ENSEMBL: ENSMUSP00000134818 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034561
AA Change: H405Q

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

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: H405Q

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: H22Q

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

SMART Domains

Protein: ENSMUSP00000134818
Gene: ENSMUSG00000032059
AA Change: H22Q

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afp	A	G	5: 90,507,905	D583G	probably benign	Het
Aqp6	G	A	15: 99,601,410	M1I	probably null	Het
Arhgef10	T	A	8: 14,940,335	I270N	possibly damaging	Het
Asb13	G	T	13: 3,645,012	R160L	possibly damaging	Het
Atg10	T	A	13: 91,040,966	D75V	probably damaging	Het
Atxn7l2	A	T	3: 108,205,832	D218E	probably damaging	Het
Ccdc191	A	G	16: 43,947,509	E624G	probably damaging	Het
Cdan1	T	C	2: 120,724,979	I760M	probably damaging	Het
Cdk14	T	A	5: 5,036,532	K263*	probably null	Het
Cdk5rap2	A	T	4: 70,353,614	I287N	probably damaging	Het
Cdkn2aip	A	T	8: 47,712,173	S168R	probably benign	Het
Dnah17	C	T	11: 118,094,213	V1555M	probably benign	Het
Dsel	T	C	1: 111,861,393	T471A	probably damaging	Het
Dzank1	T	C	2: 144,488,698	E478G	possibly damaging	Het
Enc1	T	C	13: 97,245,897	F305S	probably benign	Het
Epn1	T	A	7: 5,097,211	M441K	probably benign	Het
Fbxw24	C	T	9: 109,604,945		probably null	Het
Gad1	G	A	2: 70,589,830	D353N	probably damaging	Het
Ggcx	A	G	6: 72,428,820	S545G	probably benign	Het
H2-K1	C	T	17: 34,000,040	V30M	possibly damaging	Het
Hipk3	C	A	2: 104,446,571	V388L	probably damaging	Het
Krt82	T	A	15: 101,541,747	M505L	probably benign	Het
Man2a1	A	G	17: 64,666,793	I355V	probably benign	Het
Olfr473	C	T	7: 107,933,693	P58S	probably damaging	Het
Pcbp3	G	A	10: 76,763,343	R109*	probably null	Het
Pcgf1	T	C	6: 83,079,957		probably null	Het
Plekhm2	A	T	4: 141,631,857	V533E	possibly damaging	Het
Prss3	T	G	6: 41,373,845	D237A	probably benign	Het
Rnf125	G	A	18: 20,977,760	R25K	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Shc4	T	A	2: 125,678,750	M260L	probably benign	Het
Spag6l	T	C	16: 16,787,235	Y151C	probably benign	Het
Stac3	C	T	10: 127,503,249	P76S	probably damaging	Het
Trpc7	T	C	13: 56,887,356	I255V	probably damaging	Het
Ttn	T	C	2: 76,908,579	E3872G	probably benign	Het
Uqcrfs1	A	G	13: 30,541,158	V133A	probably benign	Het
Vmn2r52	T	A	7: 10,171,013	T300S	possibly damaging	Het
Wipi1	A	T	11: 109,603,836	I57N	possibly 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
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
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'- TGCTCAGACCCTTGTCACAC -3'
(R):5'- GTACAGAGGTCACATCCCACTC -3'

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

Posted On

2015-06-24