Mutagenetix > Incidental Mutation

Incidental Mutation 'R7561:Alg9'

585137

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 #

R7561 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50842774 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 585 (S585P)

Ref Sequence

ENSEMBL: ENSMUSP00000034561 (fasta)

Gene Model

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

AlphaFold

Q8VDI9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034561
AA Change: S585P

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

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: S585P

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: 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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,193,195	N314K	probably benign	Het
6030419C18Rik	A	G	9: 58,499,404	D199G	probably damaging	Het
A430005L14Rik	T	A	4: 153,960,640	I80N	probably benign	Het
Abca2	A	G	2: 25,446,695	H2271R	probably damaging	Het
Acad8	T	C	9: 26,979,242	I257V	probably benign	Het
Acot12	A	T	13: 91,770,124	T179S	probably damaging	Het
Adcy10	A	G	1: 165,559,172	R1155G	possibly damaging	Het
Adcy9	C	T	16: 4,418,164	C461Y	probably damaging	Het
Adgrf1	G	A	17: 43,311,109	V746I	possibly damaging	Het
Agbl1	C	A	7: 76,698,761	Q869K	unknown	Het
AI837181	T	G	19: 5,426,463	V218G	probably damaging	Het
Arhgef38	T	C	3: 133,160,728	Q216R		Het
Asb4	A	T	6: 5,430,968	H401L	possibly damaging	Het
Atg7	G	T	6: 114,673,041	A60S	possibly damaging	Het
Atp10a	T	A	7: 58,827,133	C1199S	probably damaging	Het
Blm	G	A	7: 80,502,528	A557V	probably damaging	Het
Cbln1	A	T	8: 87,471,996	M82K	probably benign	Het
Ccdc183	T	G	2: 25,611,517	I293L	probably benign	Het
Col6a3	A	G	1: 90,775,741	S3035P	unknown	Het
Cux2	A	T	5: 121,879,868	S206T	probably benign	Het
Cyfip2	T	C	11: 46,270,598	D355G	probably benign	Het
D430042O09Rik	C	T	7: 125,842,722	S627L	probably benign	Het
Dhrs2	A	G	14: 55,237,241	H111R	probably benign	Het
Eif3b	T	G	5: 140,442,354	D781E	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Fermt1	A	T	2: 132,916,088	I469N	probably benign	Het
Fgf20	G	T	8: 40,279,934	N154K	possibly damaging	Het
Fndc10	T	A	4: 155,694,871	V124E	probably damaging	Het
Fra10ac1	T	C	19: 38,221,876	D13G	probably damaging	Het
Gpatch1	A	G	7: 35,309,375	S74P	probably damaging	Het
Gramd1b	G	A	9: 40,401,615	T19I	unknown	Het
Grm8	T	C	6: 27,429,525	T457A	probably benign	Het
Gucy2g	C	A	19: 55,206,340	V882L	probably benign	Het
Hectd4	G	A	5: 121,291,225	R811H	possibly damaging	Het
Hk1	C	T	10: 62,281,028		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Il10ra	T	A	9: 45,255,819	D480V	probably benign	Het
Il18rap	A	T	1: 40,524,377	H22L	probably benign	Het
Inpp5a	T	A	7: 139,567,422	I321N	probably damaging	Het
Kat2b	T	G	17: 53,641,258	L352R	probably benign	Het
Kcna1	A	T	6: 126,642,145	V404E	probably damaging	Het
Mcm3ap	T	A	10: 76,492,878	V1110E	possibly damaging	Het
Moxd2	C	T	6: 40,887,403	R31H	probably damaging	Het
Mpdz	A	T	4: 81,307,151	N1368K	probably damaging	Het
Mpzl3	G	T	9: 45,055,312	V24F	probably benign	Het
Mybph	G	A	1: 134,193,727		probably null	Het
Ncam1	G	T	9: 49,564,942	D282E	probably damaging	Het
Ntrk2	G	A	13: 58,861,388	C331Y	probably benign	Het
Nwd2	T	A	5: 63,807,091	C1339*	probably null	Het
Olfr1080	T	C	2: 86,553,317	D269G	probably benign	Het
Olfr1450	T	C	19: 12,954,039	V150A	probably benign	Het
Olfr411	T	C	11: 74,347,610		probably benign	Het
Osbpl6	C	A	2: 76,586,154	T672N	probably damaging	Het
Pds5b	T	C	5: 150,739,318		probably null	Het
Perm1	A	G	4: 156,218,760	N587S	probably benign	Het
Pex7	A	T	10: 19,894,266	C165*	probably null	Het
Pik3r4	A	G	9: 105,687,247	T1347A	possibly damaging	Het
Pitpnm3	T	C	11: 72,051,182	D933G	probably benign	Het
Rnf213	T	A	11: 119,441,719	F2586I		Het
Scn10a	A	G	9: 119,694,324	M1T	probably null	Het
Sdhaf3	T	A	6: 6,956,079	L18Q	not run	Het
Sept7	A	G	9: 25,297,855	E256G	possibly damaging	Het
Slc35b2	A	G	17: 45,566,801	T236A	probably damaging	Het
Slc4a4	G	A	5: 89,199,697	G766R	probably damaging	Het
Slco6c1	G	T	1: 97,072,966	S537Y	probably damaging	Het
Srp68	T	C	11: 116,248,767	E452G	probably damaging	Het
Taf2	A	T	15: 55,055,833	M382K	probably benign	Het
Tas2r131	A	G	6: 132,956,958	L296P	probably benign	Het
Tlr9	A	G	9: 106,225,949	E813G	probably benign	Het
Trmt44	T	C	5: 35,557,992	E659G	possibly damaging	Het
Ttc21b	G	A	2: 66,217,204	A849V	possibly damaging	Het
Unc45a	G	T	7: 80,331,586	S489R	possibly damaging	Het
Xrn1	T	C	9: 95,999,458	V795A	probably benign	Het
Zbtb22	A	T	17: 33,917,978	T366S	probably benign	Het
Zcchc10	T	A	11: 53,324,718	H6Q	probably benign	Het
Zfp60	A	G	7: 27,748,530	K208E	probably damaging	Het
Zfp780b	A	T	7: 27,964,612	C173S	possibly damaging	Het
Zfp786	C	A	6: 47,819,733	R757L	probably benign	Het
Zfp936	G	A	7: 43,189,915	A269T	probably damaging	Het
Zfp976	T	C	7: 42,616,277	Y29C	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
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
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
R9214:Alg9	UTSW	9	50806245	missense	probably damaging	1.00
R9497:Alg9	UTSW	9	50800136	missense	probably damaging	0.97
R9511:Alg9	UTSW	9	50806225	missense	probably damaging	1.00
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'- GCTCTTGCTAGTCTGTTCAGAC -3'
(R):5'- TGGACGACCTTTATTACAGCTC -3'

Sequencing Primer
(F):5'- GCTAGTCTGTTCAGACTTATTAAGG -3'
(R):5'- AGCTCTAACAGGATGCCTTG -3'

Posted On

2019-10-17