Mutagenetix > Incidental Mutations

Incidental Mutation 'R5308:Alg9'

434486

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

042891-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5308 (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 50822711 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 570 (S570P)

Ref Sequence

ENSEMBL: ENSMUSP00000034561 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034561
AA Change: S570P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: S570P

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

noncoding transcript
Transcript: ENSMUST00000161200

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 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: 99.2%
3x: 97.7%
10x: 95.4%
20x: 91.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,406,350	G531A	probably damaging	Het
2410089E03Rik	G	A	15: 8,260,690		probably null	Het
4921504E06Rik	T	C	2: 19,524,081	D163G	probably damaging	Het
4931406P16Rik	T	A	7: 34,245,755	K355*	probably null	Het
Abcd4	C	T	12: 84,603,293		probably null	Het
Angptl3	C	A	4: 99,034,486	H255N	probably benign	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Cdc37	A	T	9: 21,140,764	D326E	probably benign	Het
Cdk13	T	C	13: 17,772,313	K6R	probably damaging	Het
Ces1b	T	C	8: 93,067,017	K315E	probably benign	Het
Cfap61	G	A	2: 146,109,988	G190S	probably damaging	Het
Ckap4	T	C	10: 84,528,374	E275G	probably benign	Het
Csf3r	A	G	4: 126,035,344	D349G	probably benign	Het
Cyp2d37-ps	T	C	15: 82,689,811		noncoding transcript	Het
Dmbt1	T	A	7: 131,041,021	C190S	probably damaging	Het
Dnah11	A	G	12: 118,085,680	F1670L	possibly damaging	Het
Dnah5	A	T	15: 28,229,651	I144F	possibly damaging	Het
Eno2	C	A	6: 124,767,093	V84L	probably damaging	Het
Ercc4	G	T	16: 13,130,164	R325L	probably damaging	Het
Fam71e1	T	C	7: 44,500,182	V109A	probably damaging	Het
Fcgr2b	T	G	1: 170,965,710	Q250P	probably benign	Het
Gcfc2	T	C	6: 81,943,543		probably null	Het
Glb1l2	C	T	9: 26,764,759	G509D	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Grn	A	G	11: 102,436,192	N160D	possibly damaging	Het
Hexdc	T	A	11: 121,222,269	V510D	probably damaging	Het
Igfbp1	G	A	11: 7,199,919		probably null	Het
Itga11	T	A	9: 62,755,769	M589K	probably benign	Het
Itpr1	A	T	6: 108,356,511	S51C	probably damaging	Het
Klra3	T	C	6: 130,334,307		probably null	Het
Mad2l1	T	C	6: 66,537,691		probably null	Het
Matn3	CGGGGCTCGGGGGC	CGGGGC	12: 8,952,308		probably null	Het
Myo9a	T	A	9: 59,863,961	Y939N	probably damaging	Het
Nxpe3	C	T	16: 55,866,471	S58N	probably benign	Het
Olfr1195	T	C	2: 88,683,405	E109G	probably benign	Het
Olfr1295	C	T	2: 111,564,554	A297T	probably damaging	Het
Olfr345	T	A	2: 36,640,694	Y218*	probably null	Het
Olfr402	T	A	11: 74,155,571	M139K	probably damaging	Het
Paics	T	C	5: 76,956,632	S35P	probably damaging	Het
Pcnt	A	C	10: 76,356,325	Y2717*	probably null	Het
Pifo	T	C	3: 106,001,103	T107A	probably benign	Het
Plekho2	T	A	9: 65,558,675	N144Y	probably damaging	Het
Plscr5	T	C	9: 92,198,512	F17S	possibly damaging	Het
Prrc2a	C	T	17: 35,161,047	R192H	unknown	Het
Rbm27	T	A	18: 42,327,210	M735K	probably damaging	Het
Rfc1	T	A	5: 65,279,461	K625N	probably damaging	Het
Ric8b	T	A	10: 84,947,747	F156L	probably benign	Het
Romo1	C	A	2: 156,144,553	A32E	possibly damaging	Het
Rpl26	T	A	11: 68,904,458	Y135N	probably damaging	Het
Sacs	T	C	14: 61,192,400	V636A	probably benign	Het
Scyl2	A	T	10: 89,642,007	I710N	probably benign	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc4a1	T	A	11: 102,359,077	I154F	probably damaging	Het
Snx11	A	G	11: 96,770,709	S157P	probably damaging	Het
Snx18	G	A	13: 113,616,847	Q517*	probably null	Het
Stard4	G	T	18: 33,203,625	N212K	probably damaging	Het
Strn3	A	G	12: 51,629,385	Y454H	probably damaging	Het
Stx17	A	T	4: 48,182,851		probably benign	Het
Tas2r121	G	A	6: 132,700,517	T164I	possibly damaging	Het
Tbc1d8	T	C	1: 39,389,409	Y485C	probably damaging	Het
Tmem45b	T	C	9: 31,429,084	M8V	probably damaging	Het
Usp28	T	C	9: 49,037,201	F844L	probably damaging	Het
Usp32	T	A	11: 85,017,718	N1054I	probably benign	Het
Xpa	T	A	4: 46,185,659	E106D	probably benign	Het
Zfp85	C	T	13: 67,748,855	C366Y	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTGCAGAAATCGTCACAGTGAC -3'
(R):5'- ACTCAGCGCCTTTCATTACG -3'

Sequencing Primer
(F):5'- ACTGATGGAGAGCTGACCCTTTC -3'
(R):5'- ATGAACTCTGCATTCCGAGG -3'

Posted On

2016-10-06