Mutagenetix > Incidental Mutation

Incidental Mutation 'R7635:Galnt13'

589852

Institutional Source

Beutler Lab

Gene Symbol

Galnt13

Ensembl Gene

ENSMUSG00000060988

Gene Name

polypeptide N-acetylgalactosaminyltransferase 13

Synonyms

pp-GalNAc-T13

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7635 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54436317-55118309 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54857817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 237 (I237V)

Ref Sequence

ENSEMBL: ENSMUSP00000108253 (fasta)

Gene Model

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

AlphaFold

Q8CF93

Predicted Effect

probably damaging
Transcript: ENSMUST00000068595
AA Change: I237V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: I237V

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: I237V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: I237V

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: I237V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: I237V

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: I237V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: I237V

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	C	9: 108,397,406	D236A	probably damaging	Het
2410089E03Rik	A	G	15: 8,226,920	I1955V	probably benign	Het
4833423E24Rik	T	A	2: 85,500,237	H242L	probably benign	Het
Adamts7	C	T	9: 90,195,245	P1322S	probably damaging	Het
AI661453	A	T	17: 47,467,751	T801S	unknown	Het
Alpk1	A	G	3: 127,695,661	V123A	probably benign	Het
Ap2b1	T	C	11: 83,389,728	V827A	probably benign	Het
Aqp5	T	A	15: 99,594,178	I219N	probably benign	Het
Astn1	G	A	1: 158,667,535	W1051*	probably null	Het
Atp8b1	T	C	18: 64,573,305	D211G	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
Bsn	A	G	9: 108,110,990	V2521A	unknown	Het
Car7	T	C	8: 104,548,437	V169A	probably damaging	Het
Catip	T	A	1: 74,368,962	D484E	unknown	Het
Ccdc18	T	C	5: 108,229,049		probably null	Het
Cdyl	T	C	13: 35,871,651	V518A	probably damaging	Het
Cep350	A	T	1: 155,879,021	C1949*	probably null	Het
Cinp	A	G	12: 110,884,013	V18A	possibly damaging	Het
Clec14a	A	G	12: 58,268,528	C103R	probably damaging	Het
Dnah8	G	C	17: 30,785,107	E3655Q	probably damaging	Het
Dnajc11	T	C	4: 151,968,611	I164T	probably damaging	Het
Dnajc13	A	T	9: 104,162,367	M2101K	probably benign	Het
Ephb4	A	G	5: 137,372,103	D864G	probably damaging	Het
Fkbp5	T	C	17: 28,428,361	T167A	probably benign	Het
Foxf2	C	A	13: 31,626,104	P9T	unknown	Het
Frmpd2	C	A	14: 33,500,963	H105N	possibly damaging	Het
Gal3st3	C	A	19: 5,307,406	R270S	probably damaging	Het
Gata5	G	T	2: 180,333,997	Q125K	possibly damaging	Het
Gm10036	T	A	18: 15,833,289	F166I	possibly damaging	Het
Gm13084	T	C	4: 143,810,417	E448G	probably damaging	Het
Gon4l	A	G	3: 88,895,106	N1008S	probably benign	Het
Got1l1	G	A	8: 27,197,934	L356F	probably damaging	Het
Gse1	A	G	8: 120,572,895	E888G	unknown	Het
Hmx1	C	A	5: 35,392,239	P292Q	possibly damaging	Het
Igkv7-33	A	T	6: 70,059,154	S16T	probably benign	Het
Itga2b	C	T	11: 102,461,756	G424D	probably damaging	Het
Itga6	A	T	2: 71,843,233	K870N	probably benign	Het
Lama4	A	T	10: 39,092,188	Q1442L	probably benign	Het
Lamc1	C	T	1: 153,249,060	R655H	probably damaging	Het
Lclat1	C	T	17: 73,161,936	S37L	probably benign	Het
Lrp1b	A	G	2: 41,123,597		probably null	Het
Map3k20	T	C	2: 72,402,004	S335P	probably benign	Het
Micu3	A	G	8: 40,366,234	D318G	possibly damaging	Het
Mmp16	T	C	4: 18,054,382	I296T	probably benign	Het
Mmp20	A	T	9: 7,639,334	I168L	probably benign	Het
Mpp3	T	C	11: 102,025,383	K48E	probably damaging	Het
Muc5ac	A	T	7: 141,805,676	D1291V	probably damaging	Het
Muc5ac	A	T	7: 141,805,753	T1317S	possibly damaging	Het
Myl10	A	T	5: 136,700,864	M119L	probably benign	Het
Myo5b	T	A	18: 74,580,396	V104E	probably damaging	Het
Nek10	G	A	14: 14,850,932	V326M	probably benign	Het
Olfr1348	G	A	7: 6,501,582	L221F	probably benign	Het
Olfr323	T	A	11: 58,625,164	E107D	unknown	Het
Olfr791	A	T	10: 129,526,682	M152L	probably benign	Het
Pcnx	A	G	12: 81,919,125	T161A		Het
Peg10	T	C	6: 4,754,938	S240P	probably damaging	Het
Pex6	G	A	17: 46,724,017	V822M	probably damaging	Het
Pla2r1	T	A	2: 60,534,762	T155S	probably benign	Het
Pld5	A	T	1: 175,993,850		probably null	Het
Plxna4	A	G	6: 32,496,741	V447A	probably damaging	Het
Pou2af1	T	C	9: 51,232,983	S66P	probably benign	Het
Prl2c2	T	C	13: 12,997,343	D147G	probably damaging	Het
Prune1	A	G	3: 95,255,285	L359P	probably damaging	Het
Rab4b	A	T	7: 27,176,217	V13E	probably damaging	Het
Rbbp6	T	G	7: 122,976,008	V80G	possibly damaging	Het
Reep5	C	T	18: 34,349,800	G119S	possibly damaging	Het
Rem1	G	C	2: 152,634,665	R281P	probably damaging	Het
Rnf215	C	T	11: 4,139,989	R309C	probably damaging	Het
Scn4a	C	A	11: 106,324,632	V1173F	probably damaging	Het
Serpine3	A	T	14: 62,673,015	I186F	possibly damaging	Het
Slc7a1	A	G	5: 148,352,236	V67A	probably damaging	Het
Smco2	A	T	6: 146,860,009	E142V	possibly damaging	Het
Spata25	G	A	2: 164,827,969	P41S	probably benign	Het
Specc1l	A	G	10: 75,276,804	D955G	probably damaging	Het
Spns3	C	T	11: 72,539,034		probably null	Het
Sptbn2	C	T	19: 4,744,207	R1480C	probably damaging	Het
Taf1a	T	C	1: 183,408,434		probably null	Het
Tas2r107	G	T	6: 131,659,600	T162K	possibly damaging	Het
Tcea1	T	C	1: 4,889,551	S139P	probably benign	Het
Tecta	C	T	9: 42,330,987	V2102I	probably benign	Het
Tmem131	A	T	1: 36,872,548	I106K	probably damaging	Het
Tpbpb	A	G	13: 60,902,111	V68A	probably benign	Het
Ttc27	A	T	17: 74,718,715	N61I	probably benign	Het
Ttn	T	C	2: 76,749,677	N23624S	probably damaging	Het
Usp2	T	C	9: 44,067,222		probably null	Het
Vmn1r10	A	G	6: 57,114,041	H206R	probably benign	Het
Vmn1r234	T	C	17: 21,229,217	I131T	probably damaging	Het
Vwf	G	T	6: 125,682,734	R2632L		Het
Wdr36	T	C	18: 32,850,525	L443P	probably benign	Het
Zcchc6	T	C	13: 59,800,090	K806E	probably benign	Het
Zfp143	T	C	7: 110,088,818	V489A	probably benign	Het
Zfp383	G	A	7: 29,915,271	R317Q	probably damaging	Het
Zswim8	A	G	14: 20,716,300	T839A	probably 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
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
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'- ATGGTGAAATCAGCTTGAAGGTC -3'
(R):5'- GTTTGGAAATGATGATCTGCATACC -3'

Sequencing Primer
(F):5'- TCTCGGAGGAAATGGTTCAGC -3'
(R):5'- TGATGATCTGCATACCTGACAGG -3'

Posted On

2019-10-24