Mutagenetix > Incidental Mutation

Incidental Mutation 'R7878:Alg9'

608580

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 #

R7878 (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 50842783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 588 (Y588H)

Ref Sequence

ENSEMBL: ENSMUSP00000034561 (fasta)

Gene Model

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

AlphaFold

Q8VDI9

Predicted Effect

probably benign
Transcript: ENSMUST00000034561
AA Change: Y588H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: Y588H

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	G	A	10: 82,284,022	R4385W	probably benign	Het
Ahi1	G	A	10: 20,981,431		probably null	Het
Ak7	T	A	12: 105,766,749	I584N	probably damaging	Het
Akip1	A	T	7: 109,707,402	Y102F	probably damaging	Het
Arid1a	A	T	4: 133,687,271	N831K	unknown	Het
Armc4	G	T	18: 7,217,801	H638N	probably benign	Het
Bcl2l11	T	A	2: 128,128,688	L19*	probably null	Het
Btn1a1	T	C	13: 23,459,044	T412A	possibly damaging	Het
Ccbe1	T	C	18: 66,076,391	N193D	possibly damaging	Het
Ccdc114	A	G	7: 45,924,560	E17G	possibly damaging	Het
Cd96	A	G	16: 46,117,776	S109P	probably damaging	Het
Cdh23	A	C	10: 60,314,200	I2622S	possibly damaging	Het
Cmya5	G	T	13: 93,089,757	T2941K	probably damaging	Het
Cntn1	T	C	15: 92,295,053	Y679H	probably damaging	Het
Cpsf1	A	G	15: 76,600,500	V619A	probably damaging	Het
Elp5	T	A	11: 69,970,599	I185F	probably damaging	Het
Frem1	A	G	4: 83,020,680	V55A	probably benign	Het
Gm8251	T	C	1: 44,056,014	S1975G	probably benign	Het
Kif1b	A	T	4: 149,214,997	Y985N	probably damaging	Het
Lao1	A	G	4: 118,967,422	N234D	probably benign	Het
Lima1	C	T	15: 99,819,550	V192I	probably benign	Het
Lrp2	T	G	2: 69,507,809	D1209A	probably damaging	Het
Lrp2	C	A	2: 69,507,810	D1209Y	probably damaging	Het
Luzp1	A	G	4: 136,541,852	H462R	probably benign	Het
Mab21l1	A	T	3: 55,784,017	T342S	probably benign	Het
Mst1	T	C	9: 108,084,613	V657A	probably benign	Het
Mtmr11	A	G	3: 96,169,199	K490R	probably benign	Het
Myh3	A	G	11: 67,087,251	D383G	probably damaging	Het
Nectin1	G	A	9: 43,803,901	G478D	probably benign	Het
Nrip1	A	G	16: 76,294,666	M1T	probably null	Het
Olfr338	A	G	2: 36,377,133	D119G	probably damaging	Het
Olfr625-ps1	A	T	7: 103,683,264	H182L	probably damaging	Het
Pnisr	C	A	4: 21,874,370	F704L	unknown	Het
Ptpn21	T	A	12: 98,715,128	K82N	probably damaging	Het
Pyroxd2	T	G	19: 42,742,665		probably null	Het
Pzp	A	G	6: 128,512,311	S446P	possibly damaging	Het
Rbck1	T	A	2: 152,318,410	I450F	probably damaging	Het
Rnase4	T	A	14: 51,104,876	L19Q	probably damaging	Het
Rrp9	A	G	9: 106,481,317	E118G	probably damaging	Het
Sec22a	A	G	16: 35,347,635	S169P	probably benign	Het
Sema5b	G	A	16: 35,661,626	S957N	probably benign	Het
Serpina3g	A	T	12: 104,238,102		probably benign	Het
Skint2	A	T	4: 112,649,745	I322F	possibly damaging	Het
Sspo	G	A	6: 48,492,526	C4471Y	probably damaging	Het
Stk16	T	A	1: 75,212,945	L167*	probably null	Het
Tanc2	G	A	11: 105,913,415	R245H		Het
Tdpoz1	G	A	3: 93,671,124	Q118*	probably null	Het
Tekt3	C	T	11: 63,070,451	R149*	probably null	Het
Tenm4	A	G	7: 96,852,357	E1256G	probably damaging	Het
Tie1	G	A	4: 118,478,424	R791C	probably damaging	Het
Tpr	T	A	1: 150,423,660	S1204T	possibly damaging	Het
Trim28	G	T	7: 13,024,362		probably benign	Het
Ucp1	A	G	8: 83,297,892	N282S	probably benign	Het
Unc80	T	A	1: 66,601,141	D1402E	possibly damaging	Het
Vmn1r69	T	A	7: 10,580,790	T5S	probably benign	Het
Zfyve28	T	A	5: 34,199,655	K733M	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
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
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'- GTGGACGACCTTTATTACAGCTC -3'

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

Posted On

2019-12-20