Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02363:Galnt13'

290629

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Galnt13

Ensembl Gene

ENSMUSG00000060988

Gene Name

polypeptide N-acetylgalactosaminyltransferase 13

Synonyms

pp-GalNAc-T13

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL02363

Quality Score

Status

Chromosome

Chromosomal Location

54436317-55118309 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55112860 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 524 (D524Y)

Ref Sequence

ENSEMBL: ENSMUSP00000108255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068595] [ENSMUST00000112634] [ENSMUST00000112635] [ENSMUST00000112636]

AlphaFold

Q8CF93

Predicted Effect

probably damaging
Transcript: ENSMUST00000068595
AA Change: D524Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: D524Y

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	115	368	1.5e-11	PFAM
Pfam:Glycos_transf_2	118	302	7.4e-35	PFAM
Pfam:Glyco_tranf_2_2	118	343	3.1e-7	PFAM
Pfam:Glyco_transf_7C	280	348	4.8e-9	PFAM
RICIN	427	550	9.63e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112634
AA Change: D560Y

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: D560Y

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	115	367	2.7e-10	PFAM
Pfam:Glycos_transf_2	118	302	1.8e-38	PFAM
Pfam:Glyco_tranf_2_2	118	343	3.2e-7	PFAM
Pfam:Glyco_transf_7C	280	348	4.9e-10	PFAM
RICIN	427	586	5.34e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112635
AA Change: D524Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: D524Y

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	115	368	1.5e-11	PFAM
Pfam:Glycos_transf_2	118	302	7.4e-35	PFAM
Pfam:Glyco_tranf_2_2	118	343	3.1e-7	PFAM
Pfam:Glyco_transf_7C	280	348	4.8e-9	PFAM
RICIN	427	550	9.63e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112636
AA Change: D524Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: D524Y

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	115	368	1.5e-11	PFAM
Pfam:Glycos_transf_2	118	302	7.4e-35	PFAM
Pfam:Glyco_tranf_2_2	118	343	3.1e-7	PFAM
Pfam:Glyco_transf_7C	280	348	4.8e-9	PFAM
RICIN	427	550	9.63e-34	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 GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM, Apr 2004]
PHENOTYPE: Galnt13 is expressed exclusively in neuronal cells. Conditional animals can be used with cre-expressing strains to produce total or tissue-specific deletion of this locus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,218,437	H1490L	possibly damaging	Het
Ak8	T	C	2: 28,812,898	S425P	probably damaging	Het
Comt	T	C	16: 18,411,131	D153G	probably benign	Het
Exoc6	T	C	19: 37,608,954	I601T	probably damaging	Het
F11	A	T	8: 45,241,531	C598S	probably damaging	Het
Glb1l3	T	C	9: 26,853,644	E157G	probably damaging	Het
Hc	T	C	2: 35,000,835	H1323R	probably benign	Het
Hsd3b5	T	C	3: 98,630,105	I32V	probably benign	Het
Il6ra	A	G	3: 89,871,253	S430P	probably benign	Het
Lama2	G	T	10: 27,366,066	T298K	probably damaging	Het
Nedd4l	T	C	18: 65,208,045		probably benign	Het
Ntrk3	T	C	7: 78,453,337	D405G	probably benign	Het
Opn5	T	C	17: 42,557,491	D371G	probably benign	Het
Pcdh15	G	T	10: 74,317,086	A408S	probably damaging	Het
Pim3	T	C	15: 88,862,913	V54A	probably benign	Het
Prdm5	T	C	6: 65,794,319	F38S	probably damaging	Het
Ptgs2	C	T	1: 150,105,709		probably null	Het
Rnf185	A	G	11: 3,418,015	I221T	possibly damaging	Het
Slc27a2	T	C	2: 126,578,950	F318L	possibly damaging	Het
Spata1	T	C	3: 146,487,364	Y124C	possibly damaging	Het
Tmie	G	T	9: 110,870,753		probably benign	Het
Tph2	T	C	10: 115,079,981	K429R	probably benign	Het
Usp32	A	G	11: 85,044,787	Y388H	probably benign	Het
Vmn2r60	A	T	7: 42,195,154	Q647L	probably benign	Het

Other mutations in Galnt13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Galnt13	APN	2	54516535	utr 5 prime	probably benign
IGL00769:Galnt13	APN	2	54880104	missense	probably benign	0.37
IGL01533:Galnt13	APN	2	54880132	missense	probably damaging	1.00
IGL01862:Galnt13	APN	2	54857914	missense	probably damaging	1.00
IGL02493:Galnt13	APN	2	54880137	missense	probably benign	0.05
IGL03108:Galnt13	APN	2	54854648	missense	probably benign	0.02
IGL03219:Galnt13	APN	2	54933435	missense	possibly damaging	0.85
G1patch:Galnt13	UTSW	2	54855232	missense	probably damaging	1.00
R0142:Galnt13	UTSW	2	55098603	missense	probably damaging	1.00
R0324:Galnt13	UTSW	2	54854616	missense	probably benign	0.01
R0379:Galnt13	UTSW	2	55060492	missense	possibly damaging	0.72
R1321:Galnt13	UTSW	2	55098594	missense	probably damaging	0.98
R1509:Galnt13	UTSW	2	54733082	missense	probably damaging	1.00
R1521:Galnt13	UTSW	2	54854645	missense	probably benign
R1539:Galnt13	UTSW	2	54857857	missense	probably damaging	1.00
R1638:Galnt13	UTSW	2	54854655	missense	probably damaging	1.00
R1640:Galnt13	UTSW	2	55060546	missense	probably damaging	1.00
R2299:Galnt13	UTSW	2	55060583	missense	possibly damaging	0.61
R2365:Galnt13	UTSW	2	54854697	missense	possibly damaging	0.85
R2367:Galnt13	UTSW	2	55112944	missense	probably benign	0.00
R3687:Galnt13	UTSW	2	54880062	missense	probably benign	0.31
R3726:Galnt13	UTSW	2	55098657	missense	probably damaging	1.00
R3730:Galnt13	UTSW	2	54933507	missense	possibly damaging	0.91
R3731:Galnt13	UTSW	2	54933507	missense	possibly damaging	0.91
R4626:Galnt13	UTSW	2	54857866	missense	probably damaging	1.00
R4880:Galnt13	UTSW	2	55060572	missense	probably damaging	1.00
R4928:Galnt13	UTSW	2	54516565	missense	probably damaging	1.00
R5421:Galnt13	UTSW	2	54857896	missense	probably damaging	1.00
R6136:Galnt13	UTSW	2	54516479	start gained	probably benign
R6244:Galnt13	UTSW	2	54933548	missense	probably damaging	1.00
R6725:Galnt13	UTSW	2	54855232	missense	probably damaging	1.00
R7058:Galnt13	UTSW	2	55098575	missense	probably damaging	0.99
R7448:Galnt13	UTSW	2	54516564	missense	possibly damaging	0.94
R7635:Galnt13	UTSW	2	54857817	missense	probably damaging	1.00
R7889:Galnt13	UTSW	2	55112861	missense	probably benign	0.02
R8003:Galnt13	UTSW	2	55060485	nonsense	probably null
R8207:Galnt13	UTSW	2	54880110	missense	probably benign	0.00
R8525:Galnt13	UTSW	2	55060476	missense	possibly damaging	0.95
R8539:Galnt13	UTSW	2	54933572	splice site	probably null
R8885:Galnt13	UTSW	2	54880126	missense	probably benign
R8946:Galnt13	UTSW	2	54880063	missense	probably benign	0.29
R9306:Galnt13	UTSW	2	54933557	missense	probably benign	0.01
R9340:Galnt13	UTSW	2	54880149	missense	probably damaging	1.00
R9362:Galnt13	UTSW	2	54733052	missense	probably benign	0.00
R9444:Galnt13	UTSW	2	55112916	missense	probably benign
R9590:Galnt13	UTSW	2	54857961	missense	probably benign	0.02
R9779:Galnt13	UTSW	2	54733050	missense	probably benign

Posted On

2015-04-16