Mutagenetix > Incidental Mutations

Incidental Mutation 'R6803:Alg9'

533444

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 #

R6803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 50789560 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 210 (D210A)

Ref Sequence

ENSEMBL: ENSMUSP00000034561 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034561
AA Change: D210A

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: D210A

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: ENSMUST00000159576

SMART Domains

Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059

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

Predicted Effect

silent
Transcript: ENSMUST00000162073

SMART Domains

Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059

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

Meta Mutation Damage Score

0.0929

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.7%

Validation Efficiency

100% (52/52)

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
As3mt	T	G	19: 46,709,581	M120R	probably benign	Het
Baz1a	T	A	12: 54,941,555	S270C	probably null	Het
Car5a	A	C	8: 121,923,765		probably null	Het
Ccdc187	T	A	2: 26,289,779	T223S	probably benign	Het
Cel	T	C	2: 28,558,048	N322S	probably benign	Het
Chd6	T	C	2: 160,960,359	E2185G	possibly damaging	Het
Clcnkb	T	C	4: 141,405,328	T597A	probably benign	Het
Cntnap1	A	G	11: 101,177,234	Y24C	possibly damaging	Het
Cog3	A	G	14: 75,704,039	S817P	probably benign	Het
Col8a2	A	G	4: 126,312,000	Y601C	probably damaging	Het
Cpm	G	T	10: 117,676,097		probably null	Het
Cpt2	T	C	4: 107,912,664	N79S	probably damaging	Het
Dnah17	T	C	11: 118,125,372	T314A	probably benign	Het
Dnm1	C	A	2: 32,312,754	V46F	probably damaging	Het
Fat3	C	T	9: 15,996,787	V2640M	probably damaging	Het
Fbxl2	A	T	9: 113,984,549	C296S	probably damaging	Het
Fcgbp	A	G	7: 28,103,212	T1522A	probably benign	Het
Foxl2	A	C	9: 98,955,932	K91T	probably damaging	Het
Gm35339	A	G	15: 76,356,576	Y488C	probably damaging	Het
Hdac11	G	T	6: 91,166,265	R131L	probably damaging	Het
Ipo11	T	C	13: 106,857,258	I723V	probably benign	Het
Klhl33	A	G	14: 50,896,735	L150P	probably damaging	Het
Klk1b11	A	G	7: 43,997,837	H65R	probably damaging	Het
Larp7	T	C	3: 127,537,036		probably null	Het
Ldlrad3	T	C	2: 102,113,547	D60G	possibly damaging	Het
Mlip	A	T	9: 77,190,381	H177Q	probably damaging	Het
Mrnip	A	G	11: 50,199,903	D298G	probably benign	Het
Npas2	A	C	1: 39,336,049	S483R	probably benign	Het
Nrg3	C	A	14: 39,012,000	E310*	probably null	Het
Olfr1382	T	A	11: 49,535,605	L140H	probably damaging	Het
Olfr504	G	T	7: 108,565,413	D127E	probably damaging	Het
Omg	T	A	11: 79,502,268	T255S	possibly damaging	Het
Plekhg6	T	C	6: 125,363,663	D578G	probably damaging	Het
Pygo1	A	G	9: 72,942,985	K39E	probably damaging	Het
Rell2	A	G	18: 37,956,941	D66G	probably damaging	Het
Samd9l	A	T	6: 3,375,446	I605K	probably damaging	Het
Sema6d	T	C	2: 124,664,050	S593P	probably damaging	Het
Sf3b3	A	G	8: 110,825,578	V545A	probably benign	Het
Speer4f1	T	A	5: 17,479,390		probably null	Het
Spem1	T	C	11: 69,821,148	E230G	possibly damaging	Het
Sphkap	A	G	1: 83,280,510	F171L	probably damaging	Het
Tbc1d13	T	C	2: 30,135,510		probably benign	Het
Tmem222	A	T	4: 133,266,843	N206K	probably benign	Het
Trnau1ap	C	T	4: 132,321,770	V41M	probably damaging	Het
Ttn	C	T	2: 76,939,043		probably null	Het
Ubr3	T	C	2: 69,936,024		probably null	Het
Uox	T	G	3: 146,612,509	V55G	possibly damaging	Het
Vmn2r24	A	T	6: 123,779,001	I11F	possibly damaging	Het
Wasf2	T	C	4: 133,194,909		probably null	Het
Zbtb4	T	C	11: 69,778,628	S726P	possibly damaging	Het
Zfp534	C	T	4: 147,674,469	C581Y	probably damaging	Het
Zfp551	A	T	7: 12,417,181	C100*	probably null	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
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'- CCCCAAACATGTTTACAGTGATTG -3'
(R):5'- CGCTGTTCTCATTAGGATAAATCACAC -3'

Sequencing Primer
(F):5'- ACATGTTTACAGTGATTGGCGTTTTG -3'
(R):5'- ACAAGAATACTACGCTTTTGCTCC -3'

Posted On

2018-09-12