Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01152:Galnt5'

50658

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Galnt5

Ensembl Gene

ENSMUSG00000026828

Gene Name

polypeptide N-acetylgalactosaminyltransferase 5

Synonyms

ppGaNTase-T5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01152

Quality Score

Status

Chromosome

Chromosomal Location

57997884-58045860 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58025393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 654 (I654L)

Ref Sequence

ENSEMBL: ENSMUSP00000131362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112616] [ENSMUST00000166729]

AlphaFold

Q8C102

Predicted Effect

probably benign
Transcript: ENSMUST00000112616
AA Change: I654L

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: I654L

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC
Pfam:Glycos_transf_2	489	672	1.3e-33	PFAM
Pfam:Glyco_transf_7C	653	718	1.9e-8	PFAM
RICIN	801	925	1.36e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144671

Predicted Effect

probably benign
Transcript: ENSMUST00000166729
AA Change: I654L

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: I654L

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC
Pfam:Glycos_transf_2	489	672	2.1e-30	PFAM
Pfam:Glyco_transf_7C	652	718	7e-8	PFAM
RICIN	801	925	1.36e-19	SMART

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 is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]
PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	T	9: 22,435,164	H356L	probably benign	Het
A730013G03Rik	T	G	1: 192,833,639		noncoding transcript	Het
Abcb4	G	A	5: 8,950,678	V1031M	probably benign	Het
Abcc4	A	G	14: 118,599,385	S655P	probably damaging	Het
Actn1	T	C	12: 80,199,046	K121R	probably damaging	Het
Aldh1l2	T	A	10: 83,522,886	R82*	probably null	Het
Arhgap31	T	A	16: 38,602,239	H1155L	possibly damaging	Het
Atp8a1	G	T	5: 67,847,206	P2Q	probably damaging	Het
Bcs1l	A	G	1: 74,592,015	M401V	possibly damaging	Het
Brca2	A	T	5: 150,542,390	N1873I	probably damaging	Het
Cenpj	T	C	14: 56,552,300	N764S	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Clk1	A	T	1: 58,413,452	C359S	possibly damaging	Het
Clk2	T	A	3: 89,176,511	F479I	probably damaging	Het
Cul4b	T	C	X: 38,543,370	M709V	probably damaging	Het
D130052B06Rik	G	T	11: 33,623,620		probably null	Het
Dgkb	T	A	12: 38,084,234	N46K	probably damaging	Het
Dnah9	C	T	11: 66,072,056	R1811H	probably damaging	Het
Dnajc18	T	C	18: 35,680,873	N281S	probably benign	Het
Gm9989	T	G	3: 81,922,211		noncoding transcript	Het
Gpr179	T	C	11: 97,337,411	E1306G	probably benign	Het
Gsc	C	A	12: 104,471,605	K219N	probably damaging	Het
Gsx2	A	T	5: 75,075,791	I11F	probably damaging	Het
Igdcc4	A	C	9: 65,135,164	E121A	probably damaging	Het
Lama2	C	T	10: 27,208,429	R915H	probably benign	Het
Large2	A	G	2: 92,370,639	L64P	probably damaging	Het
Lztr1	C	A	16: 17,522,453	Q136K	probably damaging	Het
Mageb18	A	G	X: 92,119,824	W271R	possibly damaging	Het
Magoh	A	C	4: 107,885,006		probably benign	Het
Mrgprx1	T	C	7: 48,021,486	H171R	probably benign	Het
Muc1	C	A	3: 89,230,754	T301K	probably benign	Het
Nbas	C	T	12: 13,360,958	L868F	probably damaging	Het
Nwd2	A	G	5: 63,806,529	D1152G	possibly damaging	Het
Olfr493	C	T	7: 108,346,949	A11T	probably benign	Het
Olfr77	G	A	9: 19,920,949	V247M	possibly damaging	Het
Ovgp1	T	A	3: 105,986,172	D420E	possibly damaging	Het
Pacsin3	A	G	2: 91,263,776	D350G	probably benign	Het
Pcolce2	A	T	9: 95,692,923	N309Y	probably damaging	Het
Pim2	C	A	X: 7,878,422		probably benign	Het
Plcb1	A	G	2: 134,813,659	Y53C	probably damaging	Het
Pogk	T	C	1: 166,408,478	E18G	probably damaging	Het
Pxdn	T	A	12: 30,001,937	D704E	probably damaging	Het
Rb1	C	A	14: 73,205,870	S781I	probably damaging	Het
Rnpepl1	A	G	1: 92,915,899	H247R	possibly damaging	Het
Scube1	A	T	15: 83,613,570	F697I	probably damaging	Het
Sel1l3	G	T	5: 53,116,333	H1064N	probably damaging	Het
Serinc3	A	G	2: 163,636,911	Y99H	probably damaging	Het
Slc36a2	T	A	11: 55,169,847		probably benign	Het
Smarcc1	A	C	9: 110,139,625	E130A	possibly damaging	Het
Strc	A	G	2: 121,370,795	M1273T	probably benign	Het
Tmem116	A	G	5: 121,463,799	I21V	probably benign	Het
Tmem190	T	C	7: 4,784,026		probably benign	Het
Trim63	C	T	4: 134,325,676	A316V	probably benign	Het
Ugt2b34	T	C	5: 86,901,203	E321G	probably damaging	Het
Zfat	T	A	15: 68,110,504	R1053S	probably damaging	Het

Other mutations in Galnt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Galnt5	APN	2	57998973	missense	probably benign
IGL00515:Galnt5	APN	2	57999068	missense	probably benign	0.02
IGL00950:Galnt5	APN	2	57999132	missense	probably benign	0.00
IGL00973:Galnt5	APN	2	57998939	missense	probably benign	0.02
IGL01305:Galnt5	APN	2	58025342	nonsense	probably null
IGL01661:Galnt5	APN	2	57999482	missense	probably benign	0.03
IGL01719:Galnt5	APN	2	57998543	missense	probably damaging	1.00
IGL02165:Galnt5	APN	2	57998865	missense	probably benign
IGL02795:Galnt5	APN	2	58027871	missense	probably damaging	1.00
IGL02943:Galnt5	APN	2	57999768	missense	probably damaging	1.00
IGL03218:Galnt5	APN	2	57999389	missense	possibly damaging	0.59
ANU22:Galnt5	UTSW	2	58025342	nonsense	probably null
R0082:Galnt5	UTSW	2	57999035	missense	possibly damaging	0.92
R0113:Galnt5	UTSW	2	57998877	missense	probably benign
R0445:Galnt5	UTSW	2	57998950	missense	probably benign
R0517:Galnt5	UTSW	2	58035373	splice site	probably benign
R0609:Galnt5	UTSW	2	58024625	missense	possibly damaging	0.90
R0639:Galnt5	UTSW	2	57999395	missense	probably benign	0.07
R0646:Galnt5	UTSW	2	57999085	missense	probably benign	0.00
R0677:Galnt5	UTSW	2	57998980	nonsense	probably null
R1808:Galnt5	UTSW	2	58026125	missense	probably benign	0.24
R1927:Galnt5	UTSW	2	57998603	missense	probably benign	0.00
R1980:Galnt5	UTSW	2	58024723	critical splice donor site	probably null
R2517:Galnt5	UTSW	2	57999413	missense	probably benign	0.00
R4044:Galnt5	UTSW	2	57998460	missense	probably damaging	1.00
R4154:Galnt5	UTSW	2	57998493	missense	probably damaging	1.00
R4411:Galnt5	UTSW	2	57999195	missense	probably benign	0.01
R4703:Galnt5	UTSW	2	57998907	missense	possibly damaging	0.96
R4767:Galnt5	UTSW	2	58028144	missense	possibly damaging	0.91
R5118:Galnt5	UTSW	2	58015003	missense	probably damaging	1.00
R5497:Galnt5	UTSW	2	58025328	missense	probably damaging	0.99
R5506:Galnt5	UTSW	2	57999625	missense	probably benign
R5548:Galnt5	UTSW	2	58014910	missense	probably damaging	0.99
R5758:Galnt5	UTSW	2	57998430	missense	probably benign	0.19
R5937:Galnt5	UTSW	2	58038937	missense	probably benign	0.00
R6237:Galnt5	UTSW	2	58035249	missense	probably damaging	0.96
R6805:Galnt5	UTSW	2	58035299	missense	possibly damaging	0.82
R6959:Galnt5	UTSW	2	57999219	missense	probably benign	0.39
R7070:Galnt5	UTSW	2	57998609	missense	probably benign	0.00
R7179:Galnt5	UTSW	2	57998609	missense	probably benign	0.06
R7347:Galnt5	UTSW	2	58017193	missense	probably benign	0.33
R7419:Galnt5	UTSW	2	58014925	missense	probably damaging	1.00
R7426:Galnt5	UTSW	2	58017139	missense	probably damaging	0.99
R7492:Galnt5	UTSW	2	58026036	splice site	probably null
R7539:Galnt5	UTSW	2	58035230	missense	probably damaging	0.99
R7623:Galnt5	UTSW	2	58017210	missense	probably damaging	0.99
R8135:Galnt5	UTSW	2	58014868	missense	probably damaging	1.00
R8155:Galnt5	UTSW	2	57999415	missense	probably benign	0.01
R8544:Galnt5	UTSW	2	58017148	missense	probably damaging	1.00
R9267:Galnt5	UTSW	2	58035208	missense	possibly damaging	0.58
R9747:Galnt5	UTSW	2	57999465	missense	probably benign	0.11

Posted On

2013-06-21