Mutagenetix > Incidental Mutations

Incidental Mutation 'R4996:Alg9'

385261

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

042590-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4996 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50808705 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 494 (F494L)

Ref Sequence

ENSEMBL: ENSMUSP00000034561 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034561
AA Change: F494L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: F494L

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

unknown
Transcript: ENSMUST00000175728
AA Change: F9L

Predicted Effect

probably benign
Transcript: ENSMUST00000177320

SMART Domains

Protein: ENSMUSP00000134818
Gene: ENSMUSG00000032059

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Actl11	A	G	9: 107,931,735	I1086V	possibly damaging	Het
Adgrv1	T	C	13: 81,578,734	S500G	probably benign	Het
Ahcyl1	A	T	3: 107,668,287	V394E	probably damaging	Het
Ankrd55	C	A	13: 112,356,088	D264E	possibly damaging	Het
Asb14	A	G	14: 26,912,116	N426S	possibly damaging	Het
Atm	A	T	9: 53,524,507	F168I	probably benign	Het
Atp13a4	A	T	16: 29,472,004	I209N	probably damaging	Het
BB014433	A	T	8: 15,042,166	L229Q	probably benign	Het
C130026I21Rik	G	T	1: 85,247,094	A240E	probably benign	Het
Calml3	T	C	13: 3,804,142	D21G	probably damaging	Het
Capn10	A	G	1: 92,945,136	N528S	probably damaging	Het
Ccnl2	T	A	4: 155,813,524	D141E	possibly damaging	Het
Cd163	A	G	6: 124,319,147	I817V	probably benign	Het
Cgnl1	CTTGCCCAGGTT	CTT	9: 71,724,826		probably benign	Het
Cln6	T	A	9: 62,850,655	I232N	probably damaging	Het
Col22a1	A	C	15: 72,007,161	V49G	probably damaging	Het
Csmd1	A	T	8: 15,910,452	M3321K	probably damaging	Het
Cyp2u1	T	A	3: 131,298,284	M196L	probably benign	Het
Dlec1	T	G	9: 119,146,050	L1566R	probably damaging	Het
Dnajc3	A	G	14: 118,972,427	T305A	probably benign	Het
Drp2	G	A	X: 134,441,316	R567H	probably damaging	Homo
Efhd1	G	T	1: 87,264,558	G37W	possibly damaging	Het
Exph5	G	C	9: 53,375,610	E1330D	possibly damaging	Het
Fam207a	A	T	10: 77,515,533	W14R	probably null	Het
Fbln2	A	T	6: 91,266,010	Y913F	probably benign	Het
Fmnl1	G	A	11: 103,182,656	S167N	possibly damaging	Het
Frs3	A	G	17: 47,701,710	E114G	probably damaging	Het
Gm960	T	A	19: 4,626,084	K673N	probably benign	Het
Gmpr2	T	C	14: 55,676,795	I169T	probably damaging	Het
Gria2	A	G	3: 80,707,141	S531P	probably damaging	Het
Hace1	G	A	10: 45,649,950	A296T	probably benign	Het
Hrasls	G	A	16: 29,217,704	W31*	probably null	Het
Inhbb	A	C	1: 119,420,818	L90R	probably damaging	Het
Insr	C	T	8: 3,192,665	R18Q	probably null	Het
Kdm6b	G	T	11: 69,405,731	P570Q	probably damaging	Het
Lama3	T	C	18: 12,518,743	V1803A	probably benign	Het
Lpin3	T	A	2: 160,905,287	L811Q	probably damaging	Het
Lrrc8e	C	T	8: 4,235,166	L464F	probably damaging	Het
Micall2	A	G	5: 139,710,589	S729P	probably benign	Het
Naca	C	T	10: 128,042,429		probably benign	Het
Nav1	A	T	1: 135,465,971	S1010T	probably damaging	Het
Nefm	T	C	14: 68,121,121		probably benign	Het
Nlrp9c	A	T	7: 26,385,747	F136I	possibly damaging	Het
Nup210	A	T	6: 91,053,436	F137Y	probably benign	Het
Olfr1079	T	C	2: 86,538,271	I215V	probably benign	Het
Olfr402	A	G	11: 74,155,331	H59R	probably damaging	Het
Olfr98	A	G	17: 37,262,867	S266P	probably benign	Het
Otog	C	A	7: 46,298,606	H2344N	possibly damaging	Het
Otog	C	A	7: 46,305,510	C517*	probably null	Het
Pcdhac1	C	T	18: 37,092,527	Q798*	probably null	Het
Pdhx	T	C	2: 103,030,312	D330G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454		probably benign	Het
Pgr	C	A	9: 8,900,913	P149Q	probably damaging	Het
Ppm1h	A	T	10: 122,941,340	I504F	probably damaging	Het
Ppp6r3	A	G	19: 3,473,833	S556P	probably damaging	Het
Ranbp9	G	A	13: 43,425,094	Q168*	probably null	Het
Relb	A	T	7: 19,615,603	L259Q	probably benign	Het
Rfx5	G	A	3: 94,955,815	V73I	probably benign	Het
Rgcc	T	C	14: 79,290,276	D125G	possibly damaging	Het
Rmnd5b	A	G	11: 51,627,908	V86A	probably damaging	Het
Slc15a5	G	A	6: 138,043,585	T250M	probably damaging	Het
Slc7a2	A	T	8: 40,912,562	K477*	probably null	Het
Smc2	T	A	4: 52,461,042		probably null	Het
Sox5	A	T	6: 144,028,344	L226*	probably null	Het
Syne2	A	G	12: 75,943,950	E1903G	possibly damaging	Het
Tenm3	A	T	8: 48,235,826	I2226N	probably damaging	Het
Tmtc3	A	T	10: 100,447,224	I823N	probably damaging	Het
Tor3a	T	C	1: 156,655,772	Y360C	probably damaging	Het
Trpc3	T	C	3: 36,662,818	E357G	probably benign	Het
Ttc30a1	C	T	2: 75,979,922	G606S	probably benign	Het
Tubgcp6	A	T	15: 89,103,490	N1093K	possibly damaging	Het
Vmn1r64	T	A	7: 5,884,053	T164S	probably benign	Het
Vmn2r40	T	A	7: 8,908,167	Q709L	probably damaging	Het
Vmn2r81	A	T	10: 79,293,413	I713L	probably benign	Het
Washc5	T	C	15: 59,333,635	T686A	probably benign	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,440,074		probably benign	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
R4544:Alg9	UTSW	9	50805354	missense	possibly damaging	0.90
R4546:Alg9	UTSW	9	50805354	missense	possibly damaging	0.90
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'- CTTGCTTCAGACTGACTTGTGAC -3'
(R):5'- GAGACACTCGTTTGGTTAATGC -3'

Sequencing Primer
(F):5'- AGACTGACTTGTGACCTCTGC -3'
(R):5'- TGGTTAATGCTCCAACGGAAC -3'

Posted On

2016-05-10