Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02795:Galnt5'

359938

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

57997884-58045860 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58027871 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 707 (P707H)

Ref Sequence

ENSEMBL: ENSMUSP00000131362 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112616
AA Change: P707H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: P707H

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 damaging
Transcript: ENSMUST00000166729
AA Change: P707H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: P707H

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PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences.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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,288,748	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,361,642		probably benign	Het
Acvr1	A	G	2: 58,462,952	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,033,742	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,460,616		probably null	Het
Btnl9	A	T	11: 49,174,867		probably benign	Het
Dbx1	T	A	7: 49,636,577	I47F	probably benign	Het
Dnaja3	A	G	16: 4,690,073		probably benign	Het
Dnmt1	T	C	9: 20,927,111	S220G	probably benign	Het
Dock9	A	T	14: 121,639,978	M451K	probably benign	Het
Eml3	A	G	19: 8,933,778	Y257C	probably benign	Het
Fbxw19	C	A	9: 109,495,818	M10I	possibly damaging	Het
Flg2	C	T	3: 93,203,613	R983W	unknown	Het
Gba2	G	T	4: 43,578,331	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,862,673		probably benign	Het
Gpr45	C	T	1: 43,032,493	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,322,517	S302L	probably damaging	Het
Hrg	T	C	16: 22,957,553		probably benign	Het
Kdelc2	A	G	9: 53,392,105	D99G	probably damaging	Het
Lama1	A	G	17: 67,738,894		probably null	Het
Lgr4	T	C	2: 110,008,210		probably benign	Het
Lrrc9	C	T	12: 72,478,768	T830M	probably damaging	Het
Mdga2	T	C	12: 66,689,432	T341A	probably benign	Het
Mms19	C	T	19: 41,952,406		probably null	Het
Nectin1	A	G	9: 43,803,552	S362G	probably benign	Het
Nlrc3	G	T	16: 3,965,285	H87N	probably damaging	Het
Oit1	T	A	14: 8,355,497	M113L	probably benign	Het
Olfr1018	T	A	2: 85,823,512	C180*	probably null	Het
Olfr142	A	G	2: 90,252,562	L142P	probably damaging	Het
Olfr183	G	T	16: 59,000,277	L197F	possibly damaging	Het
Olfr23	G	A	11: 73,940,929	V228I	probably benign	Het
Olfr243	T	A	7: 103,716,883	F96L	probably benign	Het
Pcsk1	G	T	13: 75,112,620	G321C	probably damaging	Het
Prrc2c	G	T	1: 162,714,299	P374T	probably benign	Het
Rusc1	A	T	3: 89,091,950	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,595,190	N4250S	probably benign	Het
Scara5	A	C	14: 65,730,680	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,703,411	K595R	probably benign	Het
Serpinb6a	A	C	13: 33,931,593	L15R	probably damaging	Het
Setdb1	A	T	3: 95,327,373	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,274,490		probably benign	Het
Slc22a30	C	T	19: 8,400,895	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,647,112	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,575,419	D611V	probably benign	Het
Spag6	G	T	2: 18,733,083	V255F	probably benign	Het
St5	T	C	7: 109,556,364	Y393C	probably damaging	Het
Svep1	C	A	4: 58,123,223	G698W	probably damaging	Het
Syne2	T	C	12: 75,966,549	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,545,959	E58G	possibly damaging	Het
Trim24	A	T	6: 37,919,389	E260D	probably damaging	Het
Ugt2b1	T	A	5: 86,917,701	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,215,302	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,085,277	Q74R	probably benign	Het
Vps25	A	G	11: 101,256,090	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,509,136	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,837,438	E273G	possibly 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
IGL01152:Galnt5	APN	2	58025393	missense	probably benign	0.17
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
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

Posted On

2015-12-18