Mutagenetix > Incidental Mutation

Incidental Mutation 'R6655:Alg3'

526602

Institutional Source

Beutler Lab

Gene Symbol

Alg3

Ensembl Gene

ENSMUSG00000033809

Gene Name

ALG3 alpha-1,3- mannosyltransferase

Synonyms

D16Ertd36e

MMRRC Submission

044776-MU

Accession Numbers

Essential gene?

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

Stock #

R6655 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20424208-20429515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20427776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 12 (Y12F)

Ref Sequence

ENSEMBL: ENSMUSP00000156234 (fasta)

Gene Model

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

AlphaFold

Q8K2A8

Predicted Effect

probably benign
Transcript: ENSMUST00000045918
AA Change: Y86F

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000045272
Gene: ENSMUSG00000033809
AA Change: Y86F

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

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

probably benign
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: ENSMUST00000231387
AA Change: Y12F

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000231471
AA Change: Y86F

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000231386
AA Change: Y86F

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

unknown
Transcript: ENSMUST00000231362
AA Change: M74L

Predicted Effect

probably benign
Transcript: ENSMUST00000231749
AA Change: Y12F

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000231531

Predicted Effect

probably benign
Transcript: ENSMUST00000147867

Predicted Effect

probably benign
Transcript: ENSMUST00000231904

Predicted Effect

probably benign
Transcript: ENSMUST00000232319

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

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

noncoding transcript
Transcript: ENSMUST00000231608

Predicted Effect

probably benign
Transcript: ENSMUST00000232458
AA Change: Y12F

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000232451

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	T	A	4: 144,431,815 (GRCm39)	D130V	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Arhgef28	A	G	13: 98,036,163 (GRCm39)	Y1699H	probably damaging	Het
Cd109	A	G	9: 78,592,220 (GRCm39)	D778G	probably benign	Het
Dlc1	A	G	8: 37,039,870 (GRCm39)	V1430A	probably damaging	Het
Dscaml1	G	A	9: 45,658,235 (GRCm39)	V1669I	probably benign	Het
Fkbp8	A	G	8: 70,985,320 (GRCm39)	Y278C	probably damaging	Het
Gm5160	T	C	18: 14,558,187 (GRCm39)	F88S	possibly damaging	Het
Kcnh1	A	G	1: 192,095,391 (GRCm39)	N483S	possibly damaging	Het
Lrp2	A	G	2: 69,284,202 (GRCm39)	S3859P	probably benign	Het
Myof	T	C	19: 37,923,239 (GRCm39)	N1351S	probably damaging	Het
Nbn	A	G	4: 15,981,696 (GRCm39)	E596G	probably damaging	Het
Neurl4	T	C	11: 69,801,742 (GRCm39)		probably null	Het
Nol8	T	C	13: 49,807,868 (GRCm39)	L10P	probably damaging	Het
Or2t46	T	A	11: 58,472,036 (GRCm39)	M122K	probably damaging	Het
Or6c213	T	C	10: 129,573,956 (GRCm39)	T277A	possibly damaging	Het
Pex26	T	C	6: 121,167,170 (GRCm39)		probably benign	Het
Rab3gap2	T	C	1: 184,982,208 (GRCm39)	M420T	probably damaging	Het
Samd9l	C	A	6: 3,377,247 (GRCm39)	V5L	probably benign	Het
Sec22b	T	A	3: 97,821,964 (GRCm39)		probably null	Het
Shank1	A	G	7: 43,976,644 (GRCm39)	I581V	unknown	Het
Ssbp2	C	T	13: 91,812,268 (GRCm39)	P105L	probably damaging	Het
Ttll9	T	C	2: 152,842,223 (GRCm39)		probably null	Het
Veph1	T	A	3: 66,113,034 (GRCm39)	I257F	possibly damaging	Het
Vmn1r222	A	C	13: 23,416,886 (GRCm39)	I109S	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wnt16	T	C	6: 22,290,965 (GRCm39)	V131A	probably damaging	Het
Zfp747l1	A	G	7: 126,983,512 (GRCm39)	L530P	possibly damaging	Het

Other mutations in Alg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Alg3	APN	16	20,426,608 (GRCm39)	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- AGCATAGAATAGCCCCGTAAAG -3'
(R):5'- TTCACCCAGAGAATGCCGTAG -3'

Sequencing Primer
(F):5'- TAGAATAGCCCCGTAAAGATGTAC -3'
(R):5'- TGTGGTTACATCAGGGACGATAATG -3'

Posted On

2018-07-23