Mutagenetix > Incidental Mutation

Incidental Mutation 'R9497:Alg9'

717298

Institutional Source

Beutler Lab

Gene Symbol

Alg9

Ensembl Gene

ENSMUSG00000032059

Gene Name

asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase)

Synonyms

B430313H07Rik, 8230402H15Rik, Dibd1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9497 (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 50800136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 305 (F305L)

Ref Sequence

ENSEMBL: ENSMUSP00000034561 (fasta)

Gene Model

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

AlphaFold

Q8VDI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034561
AA Change: F305L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: F305L

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: 99.6%
20x: 98.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	A	C	1: 86,046,171	E70A	possibly damaging	Het
4933425L06Rik	G	T	13: 105,100,479	L79F	probably damaging	Het
Abcb5	C	A	12: 118,936,115	Q272H	probably damaging	Het
Acoxl	T	C	2: 127,877,786	Y156H	probably damaging	Het
Apobec4	T	C	1: 152,757,196	V325A	probably benign	Het
Aqp9	T	G	9: 71,162,369	D46A	probably benign	Het
Atp13a4	T	A	16: 29,469,312		probably null	Het
BC051019	A	G	7: 109,716,259	F263S	probably damaging	Het
Bicc1	A	T	10: 70,940,998		probably null	Het
Birc3	G	A	9: 7,861,027	Q97*	probably null	Het
Capn13	G	T	17: 73,326,367	T533N	probably benign	Het
Casp6	G	A	3: 129,905,910	V13M	probably benign	Het
Cdh10	A	T	15: 18,964,181	E143V	probably damaging	Het
Cobl	T	A	11: 12,253,501	Q1067L	probably benign	Het
Cr2	A	G	1: 195,168,435	V241A	probably damaging	Het
Cyp2c23	C	T	19: 44,021,646	V87M	probably damaging	Het
Cyp2j9	G	A	4: 96,571,974	Q431*	probably null	Het
Cyp2t4	G	A	7: 27,155,292	V66M	possibly damaging	Het
Cyp4a12b	A	T	4: 115,414,571	M160L	probably benign	Het
Ddhd2	T	A	8: 25,727,704	K715N	possibly damaging	Het
Ecscr	T	C	18: 35,718,383	Y32C	probably damaging	Het
Ednra	A	T	8: 77,720,305	L48Q	probably benign	Het
Eya4	C	T	10: 23,111,559		probably null	Het
F13a1	C	A	13: 36,898,144	V529L	probably benign	Het
Fam151b	A	T	13: 92,474,113	I56K	probably damaging	Het
Fam19a4	T	A	6: 96,843,870	I93F	possibly damaging	Het
Fam212a	A	G	9: 107,984,739	V128A	probably benign	Het
Fat3	A	G	9: 15,992,208	I2997T	probably damaging	Het
Fgfr2	A	T	7: 130,164,033	F817I	probably damaging	Het
Fras1	G	T	5: 96,737,036	C2591F	probably damaging	Het
Fryl	T	C	5: 73,057,791	D2214G		Het
Galntl6	A	T	8: 57,837,376	D394E	probably damaging	Het
Ggcx	C	A	6: 72,429,207	N605K	probably damaging	Het
Gja5	A	G	3: 97,051,485	N286S		Het
Gm4553	A	T	7: 142,165,561	C43*	probably null	Het
Gpr158	T	C	2: 21,827,014	V975A	probably benign	Het
Greb1l	T	A	18: 10,458,600	D60E	probably benign	Het
Hao2	A	T	3: 98,877,146	L301H	probably damaging	Het
Hic1	A	G	11: 75,169,305	L72P	possibly damaging	Het
Hs3st5	A	C	10: 36,833,374	N302H	probably benign	Het
Htr1d	A	G	4: 136,442,352		probably benign	Het
Kdm7a	T	C	6: 39,151,319	D526G	probably damaging	Het
Kif5a	T	C	10: 127,243,484	S282G	probably damaging	Het
Klhdc7b	T	C	15: 89,388,260	V457A	possibly damaging	Het
Lcorl	A	G	5: 45,733,997	V421A	probably benign	Het
Ltc4s	A	G	11: 50,236,559	S150P	unknown	Het
Mdfic	C	T	6: 15,720,853	R18W	unknown	Het
Mdfic	T	G	6: 15,770,509	D171E	probably benign	Het
Meis2	T	C	2: 115,864,243	D473G	possibly damaging	Het
Mettl17	A	T	14: 51,891,572	Q433L	unknown	Het
Mettl25	T	C	10: 105,841,229	R31G	probably damaging	Het
Mroh2b	T	A	15: 4,921,363	I581N	probably damaging	Het
Myh7	A	T	14: 54,980,384	N1091K	probably benign	Het
Mysm1	T	C	4: 94,960,398	D466G	probably benign	Het
Ncoa6	T	C	2: 155,406,318	T1689A	probably damaging	Het
Ndfip2	A	G	14: 105,304,811	T332A	probably benign	Het
Nfkbil1	G	A	17: 35,220,629	P303S	probably damaging	Het
Nfx1	T	G	4: 40,994,104	N604K	probably benign	Het
Npb	T	C	11: 120,608,647	F47L	probably benign	Het
Nr2c2	C	T	6: 92,156,692	T259I	possibly damaging	Het
Obsl1	C	T	1: 75,490,840	C1430Y	probably damaging	Het
Olfr121	T	A	17: 37,752,051	Y66N	probably damaging	Het
Olfr1358	A	G	10: 78,519,904	I99V	probably benign	Het
Olfr308	G	A	7: 86,321,781	T57M	probably damaging	Het
Olfr733	C	T	14: 50,298,905	V135I	probably benign	Het
Olfr771	C	A	10: 129,160,595	V130L	probably benign	Het
Olfr981	A	T	9: 40,023,320	H309L	probably benign	Het
Olfr984	G	A	9: 40,100,639	P284S	probably damaging	Het
Pdcd6	A	T	13: 74,305,576	F148I	probably damaging	Het
Pih1d1	A	T	7: 45,154,365	Q16L	unknown	Het
Ppp1r10	T	C	17: 35,924,894	S123P	probably damaging	Het
Ppp1r13b	A	T	12: 111,841,012	M305K	probably benign	Het
Prg2	A	G	2: 84,981,341	K2E	possibly damaging	Het
Prkd1	A	T	12: 50,391,324		probably null	Het
Rfx7	T	A	9: 72,619,141	H1204Q	probably benign	Het
Serpina3k	A	C	12: 104,343,171	Q291H	probably benign	Het
Tas2r107	G	T	6: 131,659,586	Q167K	probably benign	Het
Tle1	A	C	4: 72,152,898		probably benign	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Trpa1	C	T	1: 14,918,802	E12K	probably benign	Het
Vmn2r7	T	C	3: 64,707,053	T447A	probably benign	Het
Wdr86	T	C	5: 24,715,540	Y283C	probably benign	Het
Zfp329	A	T	7: 12,810,288	Y436*	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
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
R9214:Alg9	UTSW	9	50806245	missense	probably damaging	1.00
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'- TATAGCGTCTTCACCAGTCTGC -3'
(R):5'- CAGATTTCCACACAACCTGCTG -3'

Sequencing Primer
(F):5'- TGCTTCCTGTGCACAGCG -3'
(R):5'- ACACAACCTGCTGCTTGC -3'

Posted On

2022-07-18