Mutagenetix > Incidental Mutation

Incidental Mutation 'R5053:Alg9'

394755

Institutional Source

Beutler Lab

Gene Symbol

Alg9

Ensembl Gene

ENSMUSG00000032059

Gene Name

ALG9 alpha-1,2-mannosyltransferase

Synonyms

B430313H07Rik, 8230402H15Rik, Dibd1

MMRRC Submission

042643-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5053 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50686570-50754939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 50699472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 200 (G200W)

Ref Sequence

ENSEMBL: ENSMUSP00000123711 (fasta)

Gene Model

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

AlphaFold

Q8VDI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034561
AA Change: G166W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: G166W

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 damaging
Transcript: ENSMUST00000159576
AA Change: G200W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059
AA Change: G200W

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162073
AA Change: W142L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059
AA Change: W142L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162363

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.9%
20x: 90.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,035,250 (GRCm39)	I259F	probably damaging	Het
Adgrf2	A	G	17: 43,021,334 (GRCm39)	S497P	probably damaging	Het
Adsl	T	C	15: 80,844,651 (GRCm39)	C180R	probably damaging	Het
Ahctf1	A	G	1: 179,614,349 (GRCm39)	I448T	possibly damaging	Het
Amhr2	G	A	15: 102,355,693 (GRCm39)	V213I	probably damaging	Het
Ankrd44	A	T	1: 54,774,248 (GRCm39)	L200*	probably null	Het
As3mt	A	G	19: 46,697,493 (GRCm39)	Y87C	probably damaging	Het
Bcl11a	C	A	11: 24,114,068 (GRCm39)	F470L	probably benign	Het
Cacna2d2	A	T	9: 107,392,063 (GRCm39)	Y468F	probably damaging	Het
Cep250	A	G	2: 155,804,848 (GRCm39)	D71G	possibly damaging	Het
Clca4b	T	C	3: 144,616,882 (GRCm39)	T923A	probably benign	Het
Clec16a	T	C	16: 10,394,461 (GRCm39)	L273P	probably damaging	Het
Comtd1	T	C	14: 21,897,764 (GRCm39)	D123G	probably damaging	Het
Cpa5	A	T	6: 30,623,271 (GRCm39)	E144V	probably damaging	Het
Cyp2c37	G	A	19: 39,990,331 (GRCm39)	S343N	probably benign	Het
Dennd6a	C	A	14: 26,329,738 (GRCm39)	T103K	probably damaging	Het
Ect2l	A	G	10: 18,016,093 (GRCm39)	L733P	probably damaging	Het
Erg	T	A	16: 95,325,393 (GRCm39)	H11L	probably benign	Het
Ero1b	T	C	13: 12,614,795 (GRCm39)	L253P	probably damaging	Het
Etfbkmt	T	A	6: 149,048,766 (GRCm39)	L135*	probably null	Het
Frmd4a	A	T	2: 4,608,732 (GRCm39)	T867S	probably damaging	Het
Gm815	C	T	19: 26,863,813 (GRCm39)	A18V	unknown	Het
Gna12	C	A	5: 140,746,482 (GRCm39)	R321L	probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Irs1	A	G	1: 82,264,643 (GRCm39)	L1191P	probably benign	Het
Kcp	G	T	6: 29,496,957 (GRCm39)	Q551K	probably benign	Het
Klhl11	C	T	11: 100,363,026 (GRCm39)	V177M	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Llcfc1	A	G	6: 41,662,269 (GRCm39)	H91R	possibly damaging	Het
Lmnb2	A	T	10: 80,740,489 (GRCm39)	M223K	probably damaging	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Mme	T	A	3: 63,272,270 (GRCm39)	V623E	probably damaging	Het
Ndc1	T	C	4: 107,231,415 (GRCm39)	S119P	probably damaging	Het
Nfs1	A	C	2: 155,968,318 (GRCm39)	C383G	probably damaging	Het
Nphp4	A	G	4: 152,628,919 (GRCm39)		probably null	Het
Oca2	C	A	7: 55,973,328 (GRCm39)	Q411K	probably benign	Het
Or10ab4	A	G	7: 107,654,741 (GRCm39)	H184R	probably benign	Het
Or11h23	T	A	14: 50,947,968 (GRCm39)	Y60*	probably null	Het
Or1ad1	G	A	11: 50,876,137 (GRCm39)	G203D	probably damaging	Het
Or4c15	C	A	2: 88,760,597 (GRCm39)	V21F	probably benign	Het
Or8k25	A	G	2: 86,243,682 (GRCm39)	F238S	probably damaging	Het
Pcdh7	A	T	5: 57,878,943 (GRCm39)	T493S	probably damaging	Het
Phf20	T	C	2: 156,115,782 (GRCm39)	S368P	probably benign	Het
Pla2g2e	T	G	4: 138,607,686 (GRCm39)	V22G	possibly damaging	Het
Plxna1	A	T	6: 89,299,442 (GRCm39)	H1736Q	probably damaging	Het
Prlr	C	A	15: 10,325,471 (GRCm39)	Q215K	probably benign	Het
Prpf6	T	C	2: 181,291,246 (GRCm39)	V687A	probably benign	Het
Ptprq	T	A	10: 107,399,063 (GRCm39)	T1951S	probably damaging	Het
Sec31a	G	T	5: 100,541,073 (GRCm39)	Q345K	possibly damaging	Het
Serpina3k	T	C	12: 104,309,473 (GRCm39)		probably null	Het
Sertad3	T	A	7: 27,175,947 (GRCm39)	V127E	probably benign	Het
Sf3b1	A	T	1: 55,036,336 (GRCm39)	N912K	probably benign	Het
Shq1	A	G	6: 100,632,220 (GRCm39)	L202P	probably damaging	Het
Sp8	C	T	12: 118,813,339 (GRCm39)	T398M	probably damaging	Het
Tmem150c	A	T	5: 100,231,599 (GRCm39)	D125E	probably benign	Het
Trim3	G	T	7: 105,266,968 (GRCm39)	D470E	probably damaging	Het
Ubap1	T	A	4: 41,387,315 (GRCm39)	C88*	probably null	Het
Unc79	T	A	12: 103,071,007 (GRCm39)	D1124E	probably damaging	Het
Usf3	T	C	16: 44,037,550 (GRCm39)	S677P	probably benign	Het
Vmn1r76	T	C	7: 11,664,241 (GRCm39)		probably null	Het
Zfp819	C	T	7: 43,266,570 (GRCm39)	T275I	probably damaging	Het
Zranb2	T	A	3: 157,246,796 (GRCm39)	D161E	probably damaging	Het

Other mutations in Alg9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Alg9	APN	9	50,686,677 (GRCm39)	splice site	probably null
IGL02792:Alg9	APN	9	50,754,048 (GRCm39)	missense	possibly damaging	0.90
gum_drop	UTSW	9	50,716,654 (GRCm39)	missense	possibly damaging	0.90
FR4976:Alg9	UTSW	9	50,686,731 (GRCm39)	unclassified	probably benign
R1183:Alg9	UTSW	9	50,700,833 (GRCm39)	missense	possibly damaging	0.82
R1270:Alg9	UTSW	9	50,698,872 (GRCm39)	intron	probably benign
R1575:Alg9	UTSW	9	50,686,802 (GRCm39)	missense	possibly damaging	0.65
R1773:Alg9	UTSW	9	50,690,396 (GRCm39)	missense	probably benign	0.30
R1837:Alg9	UTSW	9	50,717,615 (GRCm39)	missense	probably damaging	1.00
R2011:Alg9	UTSW	9	50,699,500 (GRCm39)	missense	probably damaging	1.00
R4324:Alg9	UTSW	9	50,716,643 (GRCm39)	missense	probably damaging	1.00
R4514:Alg9	UTSW	9	50,716,654 (GRCm39)	missense	possibly damaging	0.90
R4544:Alg9	UTSW	9	50,716,654 (GRCm39)	missense	possibly damaging	0.90
R4546:Alg9	UTSW	9	50,716,654 (GRCm39)	missense	possibly damaging	0.90
R4996:Alg9	UTSW	9	50,720,005 (GRCm39)	missense	probably damaging	1.00
R5007:Alg9	UTSW	9	50,699,524 (GRCm39)	missense	probably damaging	1.00
R5308:Alg9	UTSW	9	50,734,011 (GRCm39)	missense	possibly damaging	0.95
R6803:Alg9	UTSW	9	50,700,860 (GRCm39)	missense	probably benign	0.37
R6994:Alg9	UTSW	9	50,703,422 (GRCm39)	nonsense	probably null
R6998:Alg9	UTSW	9	50,700,921 (GRCm39)	missense	possibly damaging	0.95
R7298:Alg9	UTSW	9	50,690,361 (GRCm39)	missense	probably damaging	0.97
R7480:Alg9	UTSW	9	50,733,928 (GRCm39)	missense	probably benign	0.06
R7561:Alg9	UTSW	9	50,754,074 (GRCm39)	missense	possibly damaging	0.95
R7578:Alg9	UTSW	9	50,700,835 (GRCm39)	missense	probably benign
R7721:Alg9	UTSW	9	50,687,942 (GRCm39)	missense	probably damaging	0.99
R7829:Alg9	UTSW	9	50,699,471 (GRCm39)	missense	probably damaging	1.00
R7847:Alg9	UTSW	9	50,700,905 (GRCm39)	missense	possibly damaging	0.62
R7878:Alg9	UTSW	9	50,754,083 (GRCm39)	missense	probably benign	0.00
R8113:Alg9	UTSW	9	50,720,080 (GRCm39)	nonsense	probably null
R8257:Alg9	UTSW	9	50,690,387 (GRCm39)	missense	possibly damaging	0.62
R9214:Alg9	UTSW	9	50,717,545 (GRCm39)	missense	probably damaging	1.00
R9497:Alg9	UTSW	9	50,711,436 (GRCm39)	missense	probably damaging	0.97
R9511:Alg9	UTSW	9	50,717,525 (GRCm39)	missense	probably damaging	1.00
RF003:Alg9	UTSW	9	50,686,727 (GRCm39)	unclassified	probably benign
RF006:Alg9	UTSW	9	50,686,717 (GRCm39)	unclassified	probably benign
RF058:Alg9	UTSW	9	50,686,727 (GRCm39)	unclassified	probably benign
Z1177:Alg9	UTSW	9	50,699,473 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCATTTCCTCTTAAGTAAGGAGC -3'
(R):5'- TGAAGCAGACAGAGACCTGC -3'

Sequencing Primer
(F):5'- CCTCTTAAGTAAGGAGCTTTTTCG -3'
(R):5'- CTGCCCAGGATTCGGGTTATAAAAG -3'

Posted On

2016-06-15