Mutagenetix > Incidental Mutations

Incidental Mutation 'R7298:Alg9'

566807

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 50779061 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 121 (A121V)

Ref Sequence

ENSEMBL: ENSMUSP00000034561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000159576] [ENSMUST00000162073]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034561
AA Change: A121V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: A121V

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 damaging
Transcript: ENSMUST00000159576
AA Change: A121V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059
AA Change: A121V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162073
AA Change: A121V

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059
AA Change: A121V

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	60	167	7.5e-31	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (52/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 120,207,883	T51S	probably benign	Het
Abcc1	A	G	16: 14,396,472	D204G	possibly damaging	Het
Acaa1b	C	T	9: 119,151,847	E172K	probably benign	Het
Adamts5	G	A	16: 85,899,918	T117I	probably benign	Het
Agmat	A	G	4: 141,746,964	E52G	possibly damaging	Het
Atf7ip2	T	C	16: 10,209,168	I100T	possibly damaging	Het
Calm2	T	C	17: 87,442,737		probably null	Het
Cfap44	A	T	16: 44,481,412	M1838L	probably benign	Het
Cym	A	G	3: 107,219,693	Y49H	probably benign	Het
Dchs1	G	A	7: 105,755,131	R2735*	probably null	Het
Dnajc6	T	C	4: 101,606,611	I187T	probably benign	Het
Fam151a	G	T	4: 106,735,528	R69L	possibly damaging	Het
Gm13089	C	A	4: 143,698,505	D123Y	probably benign	Het
Gm14548	T	A	7: 3,895,265	I353F	possibly damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 101,794,171		probably benign	Het
Gm9922	C	A	14: 101,729,525	G97V	unknown	Het
Hacl1	A	T	14: 31,616,486	M378K	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ighv1-82	A	T	12: 115,952,954	I6N	possibly damaging	Het
Kctd19	A	C	8: 105,382,984	V942G	probably benign	Het
Lce1l	C	T	3: 92,850,176	C125Y	unknown	Het
Mmp8	T	C	9: 7,560,448	F42S	probably damaging	Het
Myom2	T	C	8: 15,098,411	L529P	probably damaging	Het
Nectin3	A	T	16: 46,448,396	Y548N	probably damaging	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr1255	T	C	2: 89,816,521	F59S	probably damaging	Het
Olfr303	T	A	7: 86,394,923	T192S	probably damaging	Het
Otof	T	A	5: 30,388,270	I514F	probably damaging	Het
Plch1	G	T	3: 63,716,037	S603*	probably null	Het
Ppa1	T	A	10: 61,666,912	D171E	probably benign	Het
Prss34	T	C	17: 25,299,763	C240R	probably damaging	Het
Ptpre	A	G	7: 135,683,287	D714G	probably damaging	Het
Ranbp9	A	G	13: 43,480,460	F157L	probably benign	Het
Rbbp6	A	G	7: 123,001,194	K1475E	unknown	Het
Retnlg	A	G	16: 48,872,874	N5D	probably benign	Het
Rev1	T	C	1: 38,053,104	T1245A	probably damaging	Het
Rngtt	G	T	4: 33,362,927	L360F	probably damaging	Het
Scrib	A	C	15: 76,064,761	V447G	probably damaging	Het
Slc22a6	C	A	19: 8,621,320	A247E	possibly damaging	Het
Slc25a20	G	A	9: 108,662,144		probably benign	Het
Spag16	T	A	1: 69,919,426		probably null	Het
Stx3	C	T	19: 11,790,048	W87*	probably null	Het
Syngap1	T	A	17: 26,962,987	M1158K	possibly damaging	Het
Tmed9	C	A	13: 55,593,294	H41N	possibly damaging	Het
Trav15-2-dv6-2	G	A	14: 53,649,785	S54N	probably benign	Het
Tyk2	C	T	9: 21,108,860	V1001I	probably benign	Het
Ugt8a	A	G	3: 125,915,416	V15A	probably benign	Het
Uhrf2	A	G	19: 30,088,549	E661G	probably benign	Het
Vmn2r77	T	A	7: 86,800,771	I75N	probably benign	Het
Zfp346	T	G	13: 55,130,603	V258G	probably damaging	Het
Zfp72	T	A	13: 74,372,394	K188N	possibly damaging	Het
Zgrf1	C	A	3: 127,583,650	S848*	probably null	Het

Other mutations in Alg9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Alg9	APN	9	50775377	utr 5 prime	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
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
R7930:Alg9	UTSW	9	50789605	missense	possibly damaging	0.62
R7961:Alg9	UTSW	9	50842783	missense	probably benign	0.00
R8113:Alg9	UTSW	9	50808780	nonsense	probably null
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'- GTCTCTAATTTCAACACAGGCTG -3'
(R):5'- TTTCAAAGAGGAGGCCAGACAC -3'

Sequencing Primer
(F):5'- ATTTCAACACAGGCTGTTCAC -3'
(R):5'- GTCTGCAGAACATGGCAAGACTC -3'

Posted On

2019-06-26