Mutagenetix > Incidental Mutation

Incidental Mutation 'R7578:Alg9'

586589

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 #

R7578 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50775019-50843542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50789535 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 202 (I202V)

Ref Sequence

ENSEMBL: ENSMUSP00000034561 (fasta)

Gene Model

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

AlphaFold

Q8VDI9

Predicted Effect

probably benign
Transcript: ENSMUST00000034561
AA Change: I202V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: I202V

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

unknown
Transcript: ENSMUST00000162073
AA Change: D178G

SMART Domains

Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059
AA Change: D178G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,183,533	V165E	probably damaging	Het
1700025G04Rik	T	G	1: 151,921,090	T75P	probably benign	Het
4930516K23Rik	T	C	7: 104,058,897	E235G	probably benign	Het
Adam15	A	G	3: 89,344,192	C449R	probably damaging	Het
Adam24	T	C	8: 40,680,255	V254A	probably benign	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Aldh1a1	A	C	19: 20,618,002	R98S	probably damaging	Het
Anks1b	G	A	10: 90,049,927	E162K	probably damaging	Het
Armc4	A	T	18: 7,211,593	D760E	probably benign	Het
Atp6v1b2	A	G	8: 69,103,476	T268A	probably benign	Het
Atxn1	C	T	13: 45,567,358	V354I	probably benign	Het
B3galt1	A	G	2: 68,118,552	T204A	probably damaging	Het
Catsperb	T	A	12: 101,588,285	I746K	probably benign	Het
Cdh23	G	A	10: 60,407,407	T1063M	probably benign	Het
Cherp	G	A	8: 72,464,258	R543C		Het
Cldn20	A	G	17: 3,532,999	D149G	probably damaging	Het
Clk2	A	G	3: 89,176,500	Q474R	probably benign	Het
Cp	A	G	3: 19,989,098	T1017A	possibly damaging	Het
Cyp2c39	T	C	19: 39,510,956	L29P	probably damaging	Het
Dscr3	A	C	16: 94,499,069	N275K	probably damaging	Het
Ebf3	C	T	7: 137,313,532	V93M	probably damaging	Het
Eef1akmt1	T	A	14: 57,549,871	M183L	probably damaging	Het
Fam160a1	G	T	3: 85,665,898	L915I	probably damaging	Het
Fam71d	T	C	12: 78,715,501		probably null	Het
Filip1l	A	G	16: 57,513,282	E146G	probably damaging	Het
Fpr-rs3	T	C	17: 20,624,031	S283G	possibly damaging	Het
Fras1	A	T	5: 96,684,437	Y1543F	probably damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Gjd3	A	G	11: 98,982,475	V181A	probably damaging	Het
Gm49368	T	A	7: 128,112,258	C711*	probably null	Het
Gtf3c2	A	G	5: 31,172,997	S210P	probably benign	Het
Herc2	A	G	7: 56,134,800	Y1404C	probably benign	Het
Il22ra2	T	A	10: 19,631,624	D128E	probably benign	Het
Itgav	T	A	2: 83,747,875	D113E	probably benign	Het
Kcnd3	A	G	3: 105,459,617	M268V	probably benign	Het
Kirrel3	G	T	9: 34,939,112	G19V	probably damaging	Het
Klf17	T	G	4: 117,760,719	Y147S	possibly damaging	Het
Leng1	C	T	7: 3,665,383	R22H	probably damaging	Het
Lysmd4	T	A	7: 67,226,289	Y233*	probably null	Het
Lyzl6	A	G	11: 103,635,006	V96A	probably benign	Het
Mki67	T	C	7: 135,700,915	T797A	possibly damaging	Het
Nuf2	G	T	1: 169,504,528	H399Q	probably benign	Het
Nuggc	T	C	14: 65,648,174	V766A	probably damaging	Het
Oas1c	A	T	5: 120,802,179	D307E	probably damaging	Het
Olfr432	T	A	1: 174,050,700	M109K	possibly damaging	Het
Olfr785	T	C	10: 129,409,675	I103T	probably damaging	Het
P4ha3	T	C	7: 100,293,914	Y169H	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068		probably benign	Het
Pkhd1	T	C	1: 20,347,361	D2522G	probably damaging	Het
Prickle2	T	C	6: 92,411,290	D433G	probably benign	Het
Ptcd3	A	G	6: 71,908,707	S12P	probably benign	Het
Ptpn23	T	A	9: 110,387,608	Q1060L	probably benign	Het
Rai14	G	T	15: 10,574,828	N710K	probably benign	Het
Rai14	C	T	15: 10,593,103	G152R	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Satb2	A	G	1: 56,871,784	V234A	probably benign	Het
Scg2	T	C	1: 79,436,895	Q37R	probably damaging	Het
Slc35e3	A	T	10: 117,740,579	S230T	probably damaging	Het
Slc39a2	T	C	14: 51,895,416	V272A	probably damaging	Het
Smg7	T	A	1: 152,845,430	Y677F	probably damaging	Het
Spinkl	A	G	18: 44,168,146	Y42H	probably damaging	Het
Srsf6	T	C	2: 162,932,862	F102L	probably benign	Het
Sstr3	T	C	15: 78,540,517	E10G	probably benign	Het
Tekt3	A	T	11: 63,094,660	I431F	probably damaging	Het
Trio	C	T	15: 27,854,939	R778H	possibly damaging	Het
Ush2a	T	A	1: 188,549,913	V1875D	probably damaging	Het
Vmn2r29	A	C	7: 7,231,442	I815S	probably damaging	Het
Vmn2r78	A	T	7: 86,954,344	K577*	probably null	Het
Yes1	G	A	5: 32,645,086	R115Q	probably benign	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
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'- CAGTGCGACTTGCTTTCTG -3'
(R):5'- TTTCCAGATGCTGCCATGGC -3'

Sequencing Primer
(F):5'- CAGTGCGACTTGCTTTCTGAAAAG -3'
(R):5'- GCAATCTGCATACAACATTAGGACTG -3'

Posted On

2019-10-24