Mutagenetix > Incidental Mutation

Incidental Mutation 'R6183:Alg3'

487642

Institutional Source

Beutler Lab

Gene Symbol

Alg3

Ensembl Gene

ENSMUSG00000033809

Gene Name

asparagine-linked glycosylation 3 (alpha-1,3-mannosyltransferase)

Synonyms

D16Ertd36e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R6183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20605374-20611735 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20610641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 33 (Y33C)

Ref Sequence

ENSEMBL: ENSMUSP00000156022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045918] [ENSMUST00000079600] [ENSMUST00000115522] [ENSMUST00000119224] [ENSMUST00000120394] [ENSMUST00000123774] [ENSMUST00000147867] [ENSMUST00000231362] [ENSMUST00000231386] [ENSMUST00000231387] [ENSMUST00000231904] [ENSMUST00000231471] [ENSMUST00000231531] [ENSMUST00000232451] [ENSMUST00000232319] [ENSMUST00000231749] [ENSMUST00000232458]

AlphaFold

Q8K2A8

Predicted Effect

probably benign
Transcript: ENSMUST00000045918
AA Change: Y33C

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

SMART Domains

Protein: ENSMUSP00000045272
Gene: ENSMUSG00000033809
AA Change: Y33C

Domain	Start	End	E-Value	Type
Pfam:ALG3	47	406	2.5e-145	PFAM
low complexity region	407	420	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079600

SMART Domains

Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_11	63	158	8.5e-8	PFAM
transmembrane domain	179	201	N/A	INTRINSIC
Pfam:Peptidase_M13_N	233	618	1.2e-124	PFAM
Pfam:Peptidase_M13	677	880	1.4e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115522

SMART Domains

Protein: ENSMUSP00000111184
Gene: ENSMUSG00000115219

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_18	58	176	5.9e-11	PFAM
Pfam:Methyltransf_31	58	208	1.5e-10	PFAM
Pfam:Methyltransf_25	62	169	1.4e-7	PFAM
Pfam:Methyltransf_12	63	171	4.5e-9	PFAM
Pfam:Methyltransf_11	63	173	2.8e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119224

SMART Domains

Protein: ENSMUSP00000113772
Gene: ENSMUSG00000115219

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_18	58	166	1.9e-8	PFAM
Pfam:Methyltransf_25	62	142	1.7e-7	PFAM
Pfam:Methyltransf_11	63	164	5.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120394

SMART Domains

Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_18	58	163	1.2e-8	PFAM
Pfam:Methyltransf_11	63	163	1.7e-9	PFAM
transmembrane domain	208	230	N/A	INTRINSIC
Pfam:Peptidase_M13_N	262	647	5e-109	PFAM
Pfam:Peptidase_M13	706	909	9.4e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123774
AA Change: Y33C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123378
Gene: ENSMUSG00000033809
AA Change: Y33C

Domain	Start	End	E-Value	Type
transmembrane domain	42	61	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000127454

SMART Domains

Protein: ENSMUSP00000120559
Gene: ENSMUSG00000033809

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
Pfam:ALG3	51	118	2.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147867
AA Change: Y33C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231362
AA Change: Y33C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000231386
AA Change: Y33C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000231387

Predicted Effect

probably benign
Transcript: ENSMUST00000231904
AA Change: Y33C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231471
AA Change: Y33C

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000231531

Predicted Effect

probably benign
Transcript: ENSMUST00000232451

Predicted Effect

probably benign
Transcript: ENSMUST00000232319

Predicted Effect

probably benign
Transcript: ENSMUST00000231749

Predicted Effect

probably benign
Transcript: ENSMUST00000232458

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,487,976 (GRCm38)	Y358H	probably damaging	Het
5830411N06Rik	A	G	7: 140,296,034 (GRCm38)	T404A	possibly damaging	Het
Abcb4	T	A	5: 8,918,718 (GRCm38)	D352E	probably benign	Het
Adgrb3	T	A	1: 25,094,370 (GRCm38)	I972L	probably damaging	Het
Atp1a3	C	T	7: 24,981,752 (GRCm38)	G816D	probably damaging	Het
Ces1g	C	T	8: 93,331,239 (GRCm38)	V145M	possibly damaging	Het
Clip1	A	G	5: 123,642,604 (GRCm38)	S339P	probably damaging	Het
Col2a1	G	T	15: 97,988,790 (GRCm38)	T378N	unknown	Het
Dennd4b	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	3: 90,275,568 (GRCm38)		probably benign	Het
Dnah12	T	A	14: 26,861,769 (GRCm38)	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,137,258 (GRCm38)	T416A	probably benign	Het
Ephb1	A	T	9: 102,195,325 (GRCm38)	I85N	probably damaging	Het
Etnppl	T	C	3: 130,620,317 (GRCm38)	C22R	probably damaging	Het
F830016B08Rik	A	G	18: 60,299,877 (GRCm38)	T11A	probably benign	Het
Gm5458	C	A	14: 19,599,644 (GRCm38)	V171L	probably damaging	Het
Helb	G	T	10: 120,112,998 (GRCm38)		probably null	Het
Hnrnpll	A	G	17: 80,049,876 (GRCm38)	V237A	possibly damaging	Het
Hps3	T	C	3: 20,008,868 (GRCm38)	T712A	probably benign	Het
Ibsp	A	G	5: 104,306,030 (GRCm38)	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,446,436 (GRCm38)	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,378,124 (GRCm38)	Q58K	probably damaging	Het
Iqcg	T	C	16: 33,030,923 (GRCm38)	Y226C	probably damaging	Het
Khdc1a	A	T	1: 21,350,108 (GRCm38)	D30V	possibly damaging	Het
Krtap5-5	C	A	7: 142,229,787 (GRCm38)	C42F	unknown	Het
Lmod3	T	C	6: 97,252,553 (GRCm38)	N7D	probably damaging	Het
Lvrn	A	G	18: 46,850,685 (GRCm38)	N165S	probably benign	Het
Ms4a4c	A	G	19: 11,426,229 (GRCm38)	T192A	possibly damaging	Het
Ncald	A	T	15: 37,397,232 (GRCm38)	V68D	probably damaging	Het
Olfr1507	T	A	14: 52,490,731 (GRCm38)	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,752,262 (GRCm38)	I162F	probably damaging	Het
Prokr1	T	C	6: 87,588,852 (GRCm38)	T4A	possibly damaging	Het
Qrich2	T	A	11: 116,458,129 (GRCm38)		probably benign	Het
Rgl1	C	T	1: 152,586,570 (GRCm38)	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,408,491 (GRCm38)	W21R	probably benign	Het
Spast	A	G	17: 74,373,358 (GRCm38)	I438M	probably damaging	Het
Sptbn5	C	T	2: 120,059,417 (GRCm38)		probably benign	Het
Sry	C	G	Y: 2,662,975 (GRCm38)	Q228H	unknown	Het
Tas1r1	A	G	4: 152,032,541 (GRCm38)	I212T	probably damaging	Het
Tbc1d1	A	G	5: 64,275,425 (GRCm38)	N439D	probably damaging	Het
Tjp2	C	T	19: 24,100,791 (GRCm38)	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,611,757 (GRCm38)	L47P	probably damaging	Het
Unc13a	A	T	8: 71,644,666 (GRCm38)	S1195T	probably damaging	Het
Usp54	T	C	14: 20,552,245 (GRCm38)	R1346G	probably damaging	Het
Vmn1r54	T	A	6: 90,269,290 (GRCm38)	M62K	possibly damaging	Het
Vmn2r125	A	T	4: 156,350,069 (GRCm38)	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558 (GRCm38)	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,443,930 (GRCm38)	N470K	probably damaging	Het
Zc3h7a	A	T	16: 11,147,370 (GRCm38)	I633N	possibly damaging	Het

Other mutations in Alg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Alg3	APN	16	20,607,858 (GRCm38)	missense	probably damaging	0.96
IGL01121:Alg3	APN	16	20,610,647 (GRCm38)	missense	probably damaging	1.00
IGL02121:Alg3	APN	16	20,606,535 (GRCm38)	missense	possibly damaging	0.55
R5487:Alg3	UTSW	16	20,607,780 (GRCm38)	missense	probably damaging	1.00
R6655:Alg3	UTSW	16	20,609,026 (GRCm38)	missense	probably benign	0.22
R6831:Alg3	UTSW	16	20,608,747 (GRCm38)	missense	probably damaging	0.98
R6890:Alg3	UTSW	16	20,605,986 (GRCm38)	missense	possibly damaging	0.91
R7122:Alg3	UTSW	16	20,607,852 (GRCm38)	missense	probably damaging	1.00
R7210:Alg3	UTSW	16	20,605,894 (GRCm38)	missense	unknown
R8871:Alg3	UTSW	16	20,605,934 (GRCm38)	missense	probably damaging	1.00
R9051:Alg3	UTSW	16	20,609,015 (GRCm38)	missense	probably benign	0.01
R9101:Alg3	UTSW	16	20,608,849 (GRCm38)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CTGGAAAATGGGCTTGGGTC -3'
(R):5'- GTTTGAGAAGACGCCCAGAG -3'

Sequencing Primer
(F):5'- GGTTTGATCGGTGAATGAAAGCTC -3'
(R):5'- GCGTGAGACCGGAACCTAGTG -3'

Posted On

2017-10-10