Mutagenetix > Incidental Mutation

Incidental Mutation 'R1509:Galnt13'

168111

Institutional Source

Beutler Lab

Gene Symbol

Galnt13

Ensembl Gene

ENSMUSG00000060988

Gene Name

polypeptide N-acetylgalactosaminyltransferase 13

Synonyms

pp-GalNAc-T13

MMRRC Submission

039556-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R1509 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54436317-55118309 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54733082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 80 (I80T)

Ref Sequence

ENSEMBL: ENSMUSP00000115879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068595] [ENSMUST00000112634] [ENSMUST00000112635] [ENSMUST00000112636] [ENSMUST00000136642]

AlphaFold

Q8CF93

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068595
AA Change: I80T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: I80T

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

possibly damaging
Transcript: ENSMUST00000112634
AA Change: I80T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: I80T

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

possibly damaging
Transcript: ENSMUST00000112635
AA Change: I80T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: I80T

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

possibly damaging
Transcript: ENSMUST00000112636
AA Change: I80T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: I80T

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: ENSMUST00000136642
AA Change: I80T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115879
Gene: ENSMUSG00000060988
AA Change: I80T

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC

Meta Mutation Damage Score

0.1266

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,192,647	S132P	probably benign	Het
4930430A15Rik	A	T	2: 111,218,627	M269K	probably benign	Het
AC153895.1	T	C	6: 50,043,471	R54G	unknown	Het
Acot12	G	A	13: 91,771,875		probably null	Het
Adhfe1	T	A	1: 9,553,446	D98E	probably benign	Het
Ago2	A	G	15: 73,116,364	F594S	probably damaging	Het
Aldh18a1	A	G	19: 40,557,483	I620T	probably damaging	Het
Aspscr1	C	A	11: 120,701,516	A294D	probably damaging	Het
BC067074	A	G	13: 113,368,256	N431S	probably damaging	Het
Bod1l	C	G	5: 41,819,540	R1477T	probably damaging	Het
Ccdc18	C	A	5: 108,188,978	A741D	possibly damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap52	C	T	11: 67,938,993	V317I	probably benign	Het
Cgn	A	T	3: 94,774,258	L509Q	probably benign	Het
Crb2	A	G	2: 37,786,619	H204R	probably benign	Het
Ddx39	G	A	8: 83,719,898	V99M	probably damaging	Het
Dis3l2	T	A	1: 87,021,086	C582S	possibly damaging	Het
Dmbt1	G	A	7: 131,074,331		probably benign	Het
Dnah6	T	C	6: 73,027,442	E3846G	probably damaging	Het
Dstyk	A	G	1: 132,456,346	E655G	probably damaging	Het
Epha4	T	C	1: 77,380,886	Y825C	probably damaging	Het
Esp36	T	A	17: 38,417,282	N36I	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fem1c	A	G	18: 46,524,213	S145P	probably benign	Het
Gm10125	A	G	18: 5,583,794		noncoding transcript	Het
Gm5698	T	C	1: 30,977,647	T108A	probably benign	Het
Hipk3	A	G	2: 104,441,262	S442P	probably benign	Het
Hmcn2	T	A	2: 31,314,479	V22D	possibly damaging	Het
Hspg2	C	T	4: 137,511,241		probably benign	Het
Ide	A	G	19: 37,285,204		probably null	Het
Ifnar1	C	A	16: 91,503,496	P462Q	probably damaging	Het
Itgb2l	T	A	16: 96,426,849	I485F	probably benign	Het
Jakmip3	C	T	7: 139,027,776	R549W	possibly damaging	Het
Lrrc36	A	G	8: 105,461,129	Q680R	probably damaging	Het
Lysmd3	T	G	13: 81,669,271	H122Q	probably benign	Het
Macf1	C	A	4: 123,684,009	V61L	possibly damaging	Het
Map1b	T	C	13: 99,431,528	T1562A	unknown	Het
Map3k20	A	T	2: 72,364,624		probably benign	Het
Mroh8	A	G	2: 157,233,205	V457A	probably benign	Het
Mrpl40	T	A	16: 18,875,409		probably null	Het
Ms4a10	C	T	19: 10,964,108	V166I	probably benign	Het
Mycl	A	G	4: 123,000,307	D300G	probably damaging	Het
Naca	T	A	10: 128,043,397		probably benign	Het
Ncoa4	T	C	14: 32,173,434	S172P	probably damaging	Het
Nfatc3	T	C	8: 106,083,854	F421L	possibly damaging	Het
Nucb1	C	A	7: 45,495,225	K301N	probably benign	Het
Olfr1451	T	A	19: 12,999,451	I155N	possibly damaging	Het
Olfr366	A	G	2: 37,219,954	H155R	probably damaging	Het
Olfr629	A	T	7: 103,741,036	M68K	probably benign	Het
Panx1	A	T	9: 15,010,045	V178E	possibly damaging	Het
Pkd1l3	G	A	8: 109,640,770	V1210I	probably damaging	Het
Polr2a	A	T	11: 69,747,213	H143Q	possibly damaging	Het
Prdm12	G	A	2: 31,654,174	R263H	probably damaging	Het
Prkdc	A	C	16: 15,731,566	K1998T	probably damaging	Het
Rab11fip1	A	T	8: 27,153,023	S583T	probably damaging	Het
Rnf157	T	A	11: 116,347,095	T567S	probably benign	Het
Rp1	T	C	1: 4,347,694	K1065R	probably damaging	Het
Rp1	A	G	1: 4,348,537	I784T	probably benign	Het
Rps10	A	C	17: 27,631,208	F150V	probably benign	Het
Rrp12	A	T	19: 41,882,200	F499I	probably damaging	Het
Sez6l2	G	A	7: 126,963,363	R604H	probably damaging	Het
Slc25a21	G	T	12: 56,858,079	Q57K	probably benign	Het
Slc27a2	A	G	2: 126,553,314	T54A	possibly damaging	Het
Slc9a9	T	A	9: 95,228,958	S610T	probably benign	Het
Smc1b	A	T	15: 85,086,134	S973T	probably benign	Het
Smc6	G	A	12: 11,279,733	S164N	possibly damaging	Het
Sp1	A	G	15: 102,407,879	T32A	possibly damaging	Het
Spen	T	C	4: 141,475,635	I1894V	probably benign	Het
Spen	T	C	4: 141,475,700	K1872R	possibly damaging	Het
Stab1	C	A	14: 31,151,584		probably benign	Het
Taar7d	T	G	10: 24,028,204	F328C	probably damaging	Het
Ticam1	A	T	17: 56,271,113	S327R	probably benign	Het
Tmem248	C	T	5: 130,229,454		probably benign	Het
Tom1	T	C	8: 75,054,631	S83P	probably damaging	Het
Txk	T	A	5: 72,699,110	Y446F	probably damaging	Het
Ubap1l	T	A	9: 65,371,955	C179S	probably benign	Het
Utrn	T	C	10: 12,455,441	E474G	possibly damaging	Het
Vmn2r14	T	C	5: 109,215,996	M685V	probably benign	Het
Vmn2r7	A	T	3: 64,716,460	Y146*	probably null	Het
Wdr1	G	A	5: 38,540,562	T220M	probably damaging	Het
Xpo7	T	C	14: 70,678,142	D726G	probably damaging	Het
Zbtb14	C	G	17: 69,387,764	I152M	probably benign	Het
Zbtb3	A	G	19: 8,803,407	D128G	probably damaging	Het
Zfp462	T	A	4: 55,007,667	D35E	probably damaging	Het
Zfp467	A	G	6: 48,438,687	S344P	possibly damaging	Het
Zfpm1	A	T	8: 122,307,546	D73V	possibly damaging	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
IGL02363:Galnt13	APN	2	55112860	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
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

Predicted Primers

PCR Primer
(F):5'- CACCAGTGTGAAACTCCTTTTAAGCCA -3'
(R):5'- TGCATTTCATAGGCTTTCAGAACCCA -3'

Sequencing Primer
(F):5'- GGGTTTGCTTATTCTTCAAGTTCAC -3'
(R):5'- GCACAGGCAAACTTACCCTT -3'

Posted On

2014-04-13