Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00161:Alg3'

860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alg3

Ensembl Gene

ENSMUSG00000033809

Gene Name

ALG3 alpha-1,3- mannosyltransferase

Synonyms

D16Ertd36e

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

IGL00161

Quality Score

Status

Chromosome

Chromosomal Location

20424208-20429515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20426608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 211 (V211A)

Ref Sequence

ENSEMBL: ENSMUSP00000156072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045918] [ENSMUST00000079600] [ENSMUST00000096197] [ENSMUST00000115522] [ENSMUST00000119224] [ENSMUST00000147867] [ENSMUST00000123774] [ENSMUST00000231531] [ENSMUST00000231386] [ENSMUST00000232319] [ENSMUST00000120394] [ENSMUST00000231904] [ENSMUST00000231749] [ENSMUST00000231362] [ENSMUST00000231471] [ENSMUST00000231387] [ENSMUST00000159780] [ENSMUST00000232458] [ENSMUST00000232451]

AlphaFold

Q8K2A8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045918
AA Change: V211A

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045272
Gene: ENSMUSG00000033809
AA Change: V211A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000046188

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: ENSMUST00000096197

SMART Domains

Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	7.3e-31	PFAM
VWA	352	521	3.16e-1	SMART
low complexity region	684	706	N/A	INTRINSIC
low complexity region	725	733	N/A	INTRINSIC
low complexity region	744	764	N/A	INTRINSIC
low complexity region	780	797	N/A	INTRINSIC
low complexity region	823	833	N/A	INTRINSIC
low complexity region	1032	1046	N/A	INTRINSIC
low complexity region	1127	1145	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000117019

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123774

SMART Domains

Protein: ENSMUSP00000123378
Gene: ENSMUSG00000033809

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231531
AA Change: V89A

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231386
AA Change: V211A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232319
AA Change: V89A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

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: ENSMUST00000231904

Predicted Effect

probably benign
Transcript: ENSMUST00000231749

Predicted Effect

probably benign
Transcript: ENSMUST00000231362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231608

Predicted Effect

silent
Transcript: ENSMUST00000231471

Predicted Effect

silent
Transcript: ENSMUST00000231387

Predicted Effect

probably benign
Transcript: ENSMUST00000159780

SMART Domains

Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	5.5e-31	PFAM
VWA	352	521	3.16e-1	SMART
low complexity region	684	706	N/A	INTRINSIC
low complexity region	725	733	N/A	INTRINSIC
low complexity region	744	764	N/A	INTRINSIC
low complexity region	780	797	N/A	INTRINSIC
low complexity region	823	833	N/A	INTRINSIC
low complexity region	1032	1046	N/A	INTRINSIC
low complexity region	1127	1145	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232458
AA Change: V137A

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

silent
Transcript: ENSMUST00000232451

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,375,719 (GRCm39)	V1932E	probably damaging	Het
Bsn	T	C	9: 107,992,309 (GRCm39)	T1148A	probably benign	Het
Dmbt1	G	T	7: 130,711,357 (GRCm39)	D1538Y	probably damaging	Het
Fbxl20	C	T	11: 97,981,500 (GRCm39)	G396D	possibly damaging	Het
Gsto2	A	G	19: 47,863,406 (GRCm39)	D94G	probably damaging	Het
Igf2r	T	C	17: 12,932,877 (GRCm39)	I882V	probably benign	Het
Ltbp1	C	T	17: 75,617,147 (GRCm39)		probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Nlrp1b	A	C	11: 71,072,007 (GRCm39)		probably benign	Het
Notch3	A	T	17: 32,377,088 (GRCm39)	C272*	probably null	Het
Or4c123	A	G	2: 89,126,799 (GRCm39)	C272R	probably benign	Het
Or8g26	A	G	9: 39,096,388 (GRCm39)	K305E	possibly damaging	Het
Pard3	A	G	8: 128,086,299 (GRCm39)		probably benign	Het
Pcsk4	A	G	10: 80,158,657 (GRCm39)	Y532H	probably damaging	Het
Pkd1l1	A	G	11: 8,879,353 (GRCm39)		probably null	Het
Potefam3e	T	C	8: 19,799,499 (GRCm39)		probably benign	Het
Prex1	A	G	2: 166,480,321 (GRCm39)	Y140H	probably damaging	Het
Ptpdc1	C	T	13: 48,740,534 (GRCm39)	R238Q	possibly damaging	Het
Rdx	A	G	9: 51,997,646 (GRCm39)	D540G	probably damaging	Het
Rnase10	T	G	14: 51,247,238 (GRCm39)	D168E	possibly damaging	Het
Slc30a5	A	C	13: 100,943,174 (GRCm39)	D561E	probably damaging	Het
Spag1	C	T	15: 36,195,562 (GRCm39)	R252*	probably null	Het
Spata31g1	A	T	4: 42,973,982 (GRCm39)	H1105L	probably benign	Het
Stox1	T	C	10: 62,503,692 (GRCm39)	E121G	probably damaging	Het
Synm	T	C	7: 67,384,663 (GRCm39)	M558V	probably benign	Het
Tenm2	C	T	11: 36,097,726 (GRCm39)		probably benign	Het
Vmn1r64	T	C	7: 5,886,827 (GRCm39)	T239A	probably damaging	Het

Other mutations in Alg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01121:Alg3	APN	16	20,429,397 (GRCm39)	missense	probably damaging	1.00
IGL02121:Alg3	APN	16	20,425,285 (GRCm39)	missense	possibly damaging	0.55
R5487:Alg3	UTSW	16	20,426,530 (GRCm39)	missense	probably damaging	1.00
R6183:Alg3	UTSW	16	20,429,391 (GRCm39)	missense	probably benign	0.02
R6655:Alg3	UTSW	16	20,427,776 (GRCm39)	missense	probably benign	0.22
R6831:Alg3	UTSW	16	20,427,497 (GRCm39)	missense	probably damaging	0.98
R6890:Alg3	UTSW	16	20,424,736 (GRCm39)	missense	possibly damaging	0.91
R7122:Alg3	UTSW	16	20,426,602 (GRCm39)	missense	probably damaging	1.00
R7210:Alg3	UTSW	16	20,424,644 (GRCm39)	missense	unknown
R8871:Alg3	UTSW	16	20,424,684 (GRCm39)	missense	probably damaging	1.00
R9051:Alg3	UTSW	16	20,427,765 (GRCm39)	missense	probably benign	0.01
R9101:Alg3	UTSW	16	20,427,599 (GRCm39)	missense	possibly damaging	0.95

Posted On

2011-07-12