Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00813:Mgat5'

12730

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mgat5

Ensembl Gene

ENSMUSG00000036155

Gene Name

mannoside acetylglucosaminyltransferase 5

Synonyms

4930471A21Rik, 5330407H02Rik, GlcNAc-TV, beta1,6N-acetylglucosaminyltransferase V

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00813

Quality Score

Status

Chromosome

Chromosomal Location

127132450-127413760 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127312543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 227 (M227I)

Ref Sequence

ENSEMBL: ENSMUSP00000129166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038361] [ENSMUST00000171405]

AlphaFold

Q8R4G6

Predicted Effect

probably benign
Transcript: ENSMUST00000038361
AA Change: M227I

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

SMART Domains

Protein: ENSMUSP00000038359
Gene: ENSMUSG00000036155
AA Change: M227I

Domain	Start	End	E-Value	Type
Pfam:DUF4525	2	138	3.4e-70	PFAM
Pfam:Glyco_transf_18	171	725	9.8e-268	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171405
AA Change: M227I

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

SMART Domains

Protein: ENSMUSP00000129166
Gene: ENSMUSG00000036155
AA Change: M227I

Domain	Start	End	E-Value	Type
Pfam:DUF4525	3	137	9.3e-64	PFAM
Pfam:Glyco_transf_18	171	725	1.9e-268	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190921

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for deficiencies in this gene have immune system abnormalities and reduced cancer growth and metastasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	A	1: 71,392,921 (GRCm39)		probably null	Het
Aco1	T	C	4: 40,180,290 (GRCm39)		probably null	Het
Bloc1s5	T	C	13: 38,803,158 (GRCm39)	N76S	probably damaging	Het
Cyp3a44	A	T	5: 145,711,157 (GRCm39)	*505R	probably null	Het
Epor	T	C	9: 21,871,887 (GRCm39)	T253A	possibly damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Hecw1	T	A	13: 14,452,961 (GRCm39)		probably null	Het
Hhla1	A	T	15: 65,813,810 (GRCm39)	V209E	probably damaging	Het
Ino80d	G	A	1: 63,132,462 (GRCm39)	P67L	probably damaging	Het
Lrrc37	A	C	11: 103,505,324 (GRCm39)	F2215V	probably benign	Het
Lysmd3	C	A	13: 81,813,361 (GRCm39)	N76K	probably damaging	Het
Map10	G	A	8: 126,398,671 (GRCm39)	R688Q	probably benign	Het
Mars1	A	T	10: 127,135,916 (GRCm39)	M554K	probably damaging	Het
Nup210l	A	G	3: 90,039,725 (GRCm39)	I389V	probably benign	Het
Ppp1r16b	A	G	2: 158,598,885 (GRCm39)	K315R	probably damaging	Het
Rae1	A	G	2: 172,848,726 (GRCm39)	D114G	probably damaging	Het
Rbms1	T	C	2: 60,628,049 (GRCm39)	K64E	probably damaging	Het
Shox2	C	A	3: 66,882,777 (GRCm39)	Q105H	probably damaging	Het
Simc1	C	A	13: 54,694,799 (GRCm39)	F293L	probably damaging	Het
Slc11a1	A	G	1: 74,422,639 (GRCm39)	I289V	probably benign	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Stk32a	T	A	18: 43,443,585 (GRCm39)	V254E	probably benign	Het
Them5	A	G	3: 94,250,595 (GRCm39)	K53E	probably damaging	Het
Tmem67	T	C	4: 12,058,587 (GRCm39)		probably benign	Het
Wdr7	T	A	18: 63,868,675 (GRCm39)	L248Q	possibly damaging	Het

Other mutations in Mgat5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Mgat5	APN	1	127,315,204 (GRCm39)	missense	probably damaging	1.00
IGL01795:Mgat5	APN	1	127,396,968 (GRCm39)	missense	probably damaging	0.98
IGL01830:Mgat5	APN	1	127,339,869 (GRCm39)	missense	probably damaging	1.00
IGL01879:Mgat5	APN	1	127,325,287 (GRCm39)	missense	probably damaging	0.99
IGL02322:Mgat5	APN	1	127,310,722 (GRCm39)	missense	probably benign	0.00
IGL02621:Mgat5	APN	1	127,325,326 (GRCm39)	missense	possibly damaging	0.86
IGL02695:Mgat5	APN	1	127,339,868 (GRCm39)	missense	probably damaging	1.00
IGL03142:Mgat5	APN	1	127,339,960 (GRCm39)	missense	probably damaging	1.00
Cowlick	UTSW	1	127,399,301 (GRCm39)	missense	probably benign	0.36
Curls	UTSW	1	127,248,371 (GRCm39)	missense	possibly damaging	0.77
R0518:Mgat5	UTSW	1	127,312,584 (GRCm39)	missense	probably damaging	1.00
R0594:Mgat5	UTSW	1	127,339,985 (GRCm39)	missense	probably damaging	0.96
R1480:Mgat5	UTSW	1	127,387,716 (GRCm39)	missense	probably damaging	1.00
R1501:Mgat5	UTSW	1	127,325,378 (GRCm39)	critical splice donor site	probably null
R1712:Mgat5	UTSW	1	127,248,375 (GRCm39)	missense	probably benign	0.34
R1744:Mgat5	UTSW	1	127,407,206 (GRCm39)	missense	probably damaging	1.00
R1862:Mgat5	UTSW	1	127,387,706 (GRCm39)	missense	probably damaging	1.00
R1994:Mgat5	UTSW	1	127,387,696 (GRCm39)	missense	possibly damaging	0.82
R2054:Mgat5	UTSW	1	127,325,344 (GRCm39)	missense	probably damaging	1.00
R2150:Mgat5	UTSW	1	127,396,987 (GRCm39)	missense	probably damaging	1.00
R2303:Mgat5	UTSW	1	127,374,036 (GRCm39)	missense	probably benign	0.00
R2566:Mgat5	UTSW	1	127,234,741 (GRCm39)	missense	probably benign	0.01
R3498:Mgat5	UTSW	1	127,312,571 (GRCm39)	missense	possibly damaging	0.55
R3788:Mgat5	UTSW	1	127,294,180 (GRCm39)	missense	probably benign
R4674:Mgat5	UTSW	1	127,318,495 (GRCm39)	missense	probably damaging	1.00
R4873:Mgat5	UTSW	1	127,396,986 (GRCm39)	missense	probably damaging	1.00
R4875:Mgat5	UTSW	1	127,396,986 (GRCm39)	missense	probably damaging	1.00
R5175:Mgat5	UTSW	1	127,387,649 (GRCm39)	missense	probably damaging	0.97
R5310:Mgat5	UTSW	1	127,315,251 (GRCm39)	critical splice donor site	probably null
R5337:Mgat5	UTSW	1	127,387,658 (GRCm39)	missense	possibly damaging	0.84
R5597:Mgat5	UTSW	1	127,325,303 (GRCm39)	missense	probably damaging	1.00
R5599:Mgat5	UTSW	1	127,325,303 (GRCm39)	missense	probably damaging	1.00
R5861:Mgat5	UTSW	1	127,315,129 (GRCm39)	missense	probably damaging	1.00
R5956:Mgat5	UTSW	1	127,310,676 (GRCm39)	missense	probably benign	0.10
R6042:Mgat5	UTSW	1	127,387,636 (GRCm39)	missense	probably damaging	1.00
R6223:Mgat5	UTSW	1	127,310,716 (GRCm39)	missense	possibly damaging	0.86
R6492:Mgat5	UTSW	1	127,399,301 (GRCm39)	missense	probably benign	0.36
R6662:Mgat5	UTSW	1	127,396,974 (GRCm39)	missense	probably damaging	1.00
R6960:Mgat5	UTSW	1	127,248,371 (GRCm39)	missense	possibly damaging	0.77
R6981:Mgat5	UTSW	1	127,318,588 (GRCm39)	missense	probably damaging	0.98
R7110:Mgat5	UTSW	1	127,310,716 (GRCm39)	missense	possibly damaging	0.92
R7133:Mgat5	UTSW	1	127,292,926 (GRCm39)	missense	probably benign
R7142:Mgat5	UTSW	1	127,339,924 (GRCm39)	missense	probably damaging	1.00
R7151:Mgat5	UTSW	1	127,373,999 (GRCm39)	missense	probably damaging	0.97
R7506:Mgat5	UTSW	1	127,294,192 (GRCm39)	missense	probably benign	0.24
R7790:Mgat5	UTSW	1	127,339,941 (GRCm39)	missense	probably benign	0.23
R7980:Mgat5	UTSW	1	127,407,248 (GRCm39)	missense	probably benign	0.13
R8548:Mgat5	UTSW	1	127,248,409 (GRCm39)	missense	possibly damaging	0.77
R9008:Mgat5	UTSW	1	127,407,308 (GRCm39)	missense	probably damaging	1.00
R9127:Mgat5	UTSW	1	127,294,197 (GRCm39)	missense	probably benign	0.14
R9279:Mgat5	UTSW	1	127,325,348 (GRCm39)	missense	probably damaging	1.00
R9599:Mgat5	UTSW	1	127,248,445 (GRCm39)	missense	probably benign	0.02
X0028:Mgat5	UTSW	1	127,294,222 (GRCm39)	missense	possibly damaging	0.91
Z1177:Mgat5	UTSW	1	127,410,429 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06