Mutagenetix > Incidental Mutation

Incidental Mutation 'R4928:Galnt13'

380959

Institutional Source

Beutler Lab

Gene Symbol

Galnt13

Ensembl Gene

ENSMUSG00000060988

Gene Name

polypeptide N-acetylgalactosaminyltransferase 13

Synonyms

pp-GalNAc-T13

MMRRC Submission

042529-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R4928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54326329-55008321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54406577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 9 (V9E)

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: V9E

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: V9E

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: V9E

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: V9E

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: V9E

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: V9E

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: V9E

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: V9E

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: V9E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115879
Gene: ENSMUSG00000060988
AA Change: V9E

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

Meta Mutation Damage Score

0.2703

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

98% (123/126)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530021J07Rik	G	T	7: 82,805,086 (GRCm39)		noncoding transcript	Het
Aasdh	T	A	5: 77,044,535 (GRCm39)	K118N	possibly damaging	Het
Abca14	A	T	7: 119,923,803 (GRCm39)	N1620I	possibly damaging	Het
Acap1	A	T	11: 69,776,641 (GRCm39)	S149T	possibly damaging	Het
Adgre1	T	A	17: 57,751,064 (GRCm39)	Y579*	probably null	Het
Aifm3	T	C	16: 17,318,296 (GRCm39)		probably benign	Het
Aldh16a1	A	G	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Amer2	A	T	14: 60,616,894 (GRCm39)	H363L	possibly damaging	Het
Arhgap10	A	G	8: 78,152,957 (GRCm39)		probably null	Het
Arhgef6	A	T	X: 56,280,238 (GRCm39)	D742E	probably damaging	Het
Astn2	A	T	4: 65,647,644 (GRCm39)	N731K	probably damaging	Het
Atp1a2	T	C	1: 172,105,954 (GRCm39)	T904A	possibly damaging	Het
Atr	C	T	9: 95,789,352 (GRCm39)	R1503W	probably damaging	Het
Cdh3	G	T	8: 107,263,242 (GRCm39)	R97L	probably benign	Het
Chst2	C	T	9: 95,288,059 (GRCm39)	V96I	probably benign	Het
Cit	T	A	5: 116,123,856 (GRCm39)	N1464K	probably benign	Het
Col17a1	A	T	19: 47,658,897 (GRCm39)		probably null	Het
Col4a3	G	A	1: 82,688,698 (GRCm39)		probably benign	Het
Copz1	T	A	15: 103,199,757 (GRCm39)	S57R	probably damaging	Het
Cpped1	A	T	16: 11,646,143 (GRCm39)	F227Y	probably damaging	Het
Cyp2j12	A	T	4: 95,990,388 (GRCm39)		probably null	Het
Dctn1	T	A	6: 83,166,189 (GRCm39)	I195N	possibly damaging	Het
Dhrs7b	A	G	11: 60,742,751 (GRCm39)	I148V	probably benign	Het
Dnah17	T	C	11: 117,918,259 (GRCm39)	D4096G	probably damaging	Het
Dnajc13	T	C	9: 104,110,837 (GRCm39)	N145D	possibly damaging	Het
Ecpas	A	G	4: 58,827,073 (GRCm39)	V1020A	probably damaging	Het
Entrep2	G	T	7: 64,409,116 (GRCm39)	S426*	probably null	Het
Ercc6l2	T	C	13: 64,042,627 (GRCm39)		probably benign	Het
Fads6	T	G	11: 115,187,387 (GRCm39)	I103L	probably benign	Het
Fat4	T	G	3: 39,064,614 (GRCm39)	Y4857D	probably damaging	Het
Fbxl14	T	A	6: 119,457,671 (GRCm39)	L284Q	probably damaging	Het
Fkbp9	T	C	6: 56,826,655 (GRCm39)	V85A	possibly damaging	Het
Gm14412	A	T	2: 177,006,373 (GRCm39)	S507R	probably benign	Het
Gm15142	T	A	X: 153,421,415 (GRCm39)		noncoding transcript	Het
Gm4787	T	C	12: 81,425,612 (GRCm39)	E182G	probably benign	Het
Gm6811	C	A	17: 21,314,893 (GRCm39)		noncoding transcript	Het
Gm9791	A	T	3: 34,059,218 (GRCm39)		noncoding transcript	Het
Hoxb7	A	T	11: 96,180,336 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,892,819 (GRCm39)		probably benign	Het
Krt28	C	T	11: 99,265,458 (GRCm39)	V70I	probably benign	Het
Lig1	T	C	7: 13,032,664 (GRCm39)	S459P	probably damaging	Het
Lrfn3	C	T	7: 30,060,048 (GRCm39)	R59H	possibly damaging	Het
Mavs	T	C	2: 131,088,663 (GRCm39)	V489A	probably benign	Het
Mcm8	C	T	2: 132,681,399 (GRCm39)	P625L	probably benign	Het
Megf10	G	T	18: 57,373,745 (GRCm39)	R181L	probably benign	Het
Mgrn1	G	A	16: 4,745,726 (GRCm39)	G440D	probably benign	Het
Mllt3	T	C	4: 87,700,642 (GRCm39)		probably null	Het
Muc5ac	T	A	7: 141,371,639 (GRCm39)	Y2613*	probably null	Het
Myh14	C	T	7: 44,284,926 (GRCm39)	G662S	probably benign	Het
Myod1	T	A	7: 46,026,474 (GRCm39)	N126K	probably damaging	Het
Nae1	A	T	8: 105,242,774 (GRCm39)	H439Q	possibly damaging	Het
Narf	T	A	11: 121,135,765 (GRCm39)	V136E	possibly damaging	Het
Ncapd3	T	A	9: 26,983,031 (GRCm39)	C926*	probably null	Het
Ndufv2	C	A	17: 66,399,653 (GRCm39)		probably null	Het
Neb	T	C	2: 52,102,987 (GRCm39)	S449G	possibly damaging	Het
Nek10	C	T	14: 14,930,577 (GRCm38)	P698L	probably damaging	Het
Nox3	T	A	17: 3,685,550 (GRCm39)	E566V	probably null	Het
Oas1a	C	T	5: 121,043,787 (GRCm39)	R115H	probably benign	Het
Or10ag60	C	A	2: 87,438,487 (GRCm39)	L252I	probably benign	Het
Or51b6	A	G	7: 103,555,879 (GRCm39)	T78A	probably damaging	Het
Or5w19	A	G	2: 87,698,574 (GRCm39)	M80V	probably benign	Het
Or8k30	T	A	2: 86,339,469 (GRCm39)	L222H	probably damaging	Het
Pbld2	A	G	10: 62,883,778 (GRCm39)	H142R	probably damaging	Het
Pcdha4	C	T	18: 37,087,869 (GRCm39)	T684M	probably benign	Het
Phc3	G	T	3: 31,005,068 (GRCm39)	T175N	probably damaging	Het
Pigs	G	T	11: 78,219,828 (GRCm39)	V68L	probably damaging	Het
Pik3c2g	T	A	6: 139,913,528 (GRCm39)	D857E	possibly damaging	Het
Pitpnm3	G	A	11: 71,953,998 (GRCm39)	P550S	probably damaging	Het
Pla2g15	G	A	8: 106,889,850 (GRCm39)	W374*	probably null	Het
Ptpn14	G	A	1: 189,554,839 (GRCm39)	C133Y	probably damaging	Het
Ptpn20	A	G	14: 33,336,446 (GRCm39)	N95S	probably benign	Het
Ptrh2	G	T	11: 86,580,862 (GRCm39)	V160F	probably damaging	Het
Rapgef3	T	C	15: 97,655,256 (GRCm39)	D486G	probably damaging	Het
Rev3l	T	G	10: 39,699,981 (GRCm39)	S1493A	probably benign	Het
Rgs9	T	A	11: 109,116,570 (GRCm39)	D411V	probably benign	Het
Rgsl1	A	T	1: 153,669,514 (GRCm39)	Y291N	probably damaging	Het
Rprd2	A	G	3: 95,671,849 (GRCm39)	Y1185H	probably damaging	Het
Rpusd3	A	G	6: 113,393,167 (GRCm39)		probably benign	Het
Scnn1a	T	C	6: 125,299,136 (GRCm39)	I72T	probably damaging	Het
Sdk1	A	T	5: 141,842,758 (GRCm39)		probably benign	Het
Sfmbt2	T	C	2: 10,450,556 (GRCm39)	L277P	probably benign	Het
Sgf29	A	G	7: 126,264,154 (GRCm39)	E73G	probably damaging	Het
Slc12a6	T	A	2: 112,183,306 (GRCm39)	F764L	probably damaging	Het
Slc4a2	T	C	5: 24,640,340 (GRCm39)		probably null	Het
Slc9a3	T	G	13: 74,305,838 (GRCm39)	V285G	probably damaging	Het
Slc9c1	A	G	16: 45,395,772 (GRCm39)	T608A	probably benign	Het
Slfnl1	C	T	4: 120,392,882 (GRCm39)	R325C	probably damaging	Het
Smarcad1	T	A	6: 65,051,898 (GRCm39)	F344I	probably benign	Het
Snrnp70	A	T	7: 45,026,705 (GRCm39)		probably null	Het
Sod2	C	T	17: 13,227,073 (GRCm39)	T9M	probably benign	Het
Spag5	T	A	11: 78,205,199 (GRCm39)	S633T	probably damaging	Het
Spta1	A	T	1: 174,018,622 (GRCm39)	I531L	probably benign	Het
Stra8	A	G	6: 34,910,091 (GRCm39)	E60G	probably benign	Het
Sult2a3	T	A	7: 13,845,482 (GRCm39)	I126F	probably benign	Het
Syt1	T	C	10: 108,340,373 (GRCm39)	H315R	possibly damaging	Het
Tanc2	T	C	11: 105,758,588 (GRCm39)	L783P	probably damaging	Het
Thbs2	C	T	17: 14,899,162 (GRCm39)	C646Y	probably damaging	Het
Ticam2	T	A	18: 46,693,989 (GRCm39)	K33*	probably null	Het
Trim17	T	C	11: 58,845,127 (GRCm39)		probably benign	Het
Tsr1	G	A	11: 74,798,705 (GRCm39)	M691I	probably benign	Het
Ttn	T	A	2: 76,592,763 (GRCm39)	I20790F	probably damaging	Het
Tubb2b	A	T	13: 34,312,168 (GRCm39)	Y208*	probably null	Het
Ubr1	T	A	2: 120,745,419 (GRCm39)	I890F	probably damaging	Het
Usp54	T	C	14: 20,612,260 (GRCm39)	E852G	probably damaging	Het
Vmn2r78	T	C	7: 86,603,835 (GRCm39)	V671A	probably damaging	Het
Wipi1	T	C	11: 109,470,475 (GRCm39)	K315E	probably benign	Het
Xrn2	T	C	2: 146,893,638 (GRCm39)	V735A	possibly damaging	Het
Zdbf2	T	A	1: 63,347,973 (GRCm39)	D2117E	possibly damaging	Het
Zfp287	A	T	11: 62,604,962 (GRCm39)	C648*	probably null	Het
Zfp369	A	G	13: 65,444,614 (GRCm39)	T586A	possibly damaging	Het

Other mutations in Galnt13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Galnt13	APN	2	54,406,547 (GRCm39)	utr 5 prime	probably benign
IGL00769:Galnt13	APN	2	54,770,116 (GRCm39)	missense	probably benign	0.37
IGL01533:Galnt13	APN	2	54,770,144 (GRCm39)	missense	probably damaging	1.00
IGL01862:Galnt13	APN	2	54,747,926 (GRCm39)	missense	probably damaging	1.00
IGL02363:Galnt13	APN	2	55,002,872 (GRCm39)	missense	probably damaging	1.00
IGL02493:Galnt13	APN	2	54,770,149 (GRCm39)	missense	probably benign	0.05
IGL03108:Galnt13	APN	2	54,744,660 (GRCm39)	missense	probably benign	0.02
IGL03219:Galnt13	APN	2	54,823,447 (GRCm39)	missense	possibly damaging	0.85
G1patch:Galnt13	UTSW	2	54,745,244 (GRCm39)	missense	probably damaging	1.00
R0142:Galnt13	UTSW	2	54,988,615 (GRCm39)	missense	probably damaging	1.00
R0324:Galnt13	UTSW	2	54,744,628 (GRCm39)	missense	probably benign	0.01
R0379:Galnt13	UTSW	2	54,950,504 (GRCm39)	missense	possibly damaging	0.72
R1321:Galnt13	UTSW	2	54,988,606 (GRCm39)	missense	probably damaging	0.98
R1509:Galnt13	UTSW	2	54,623,094 (GRCm39)	missense	probably damaging	1.00
R1521:Galnt13	UTSW	2	54,744,657 (GRCm39)	missense	probably benign
R1539:Galnt13	UTSW	2	54,747,869 (GRCm39)	missense	probably damaging	1.00
R1638:Galnt13	UTSW	2	54,744,667 (GRCm39)	missense	probably damaging	1.00
R1640:Galnt13	UTSW	2	54,950,558 (GRCm39)	missense	probably damaging	1.00
R2299:Galnt13	UTSW	2	54,950,595 (GRCm39)	missense	possibly damaging	0.61
R2365:Galnt13	UTSW	2	54,744,709 (GRCm39)	missense	possibly damaging	0.85
R2367:Galnt13	UTSW	2	55,002,956 (GRCm39)	missense	probably benign	0.00
R3687:Galnt13	UTSW	2	54,770,074 (GRCm39)	missense	probably benign	0.31
R3726:Galnt13	UTSW	2	54,988,669 (GRCm39)	missense	probably damaging	1.00
R3730:Galnt13	UTSW	2	54,823,519 (GRCm39)	missense	possibly damaging	0.91
R3731:Galnt13	UTSW	2	54,823,519 (GRCm39)	missense	possibly damaging	0.91
R4626:Galnt13	UTSW	2	54,747,878 (GRCm39)	missense	probably damaging	1.00
R4880:Galnt13	UTSW	2	54,950,584 (GRCm39)	missense	probably damaging	1.00
R5421:Galnt13	UTSW	2	54,747,908 (GRCm39)	missense	probably damaging	1.00
R6136:Galnt13	UTSW	2	54,406,491 (GRCm39)	start gained	probably benign
R6244:Galnt13	UTSW	2	54,823,560 (GRCm39)	missense	probably damaging	1.00
R6725:Galnt13	UTSW	2	54,745,244 (GRCm39)	missense	probably damaging	1.00
R7058:Galnt13	UTSW	2	54,988,587 (GRCm39)	missense	probably damaging	0.99
R7448:Galnt13	UTSW	2	54,406,576 (GRCm39)	missense	possibly damaging	0.94
R7635:Galnt13	UTSW	2	54,747,829 (GRCm39)	missense	probably damaging	1.00
R7889:Galnt13	UTSW	2	55,002,873 (GRCm39)	missense	probably benign	0.02
R8003:Galnt13	UTSW	2	54,950,497 (GRCm39)	nonsense	probably null
R8207:Galnt13	UTSW	2	54,770,122 (GRCm39)	missense	probably benign	0.00
R8525:Galnt13	UTSW	2	54,950,488 (GRCm39)	missense	possibly damaging	0.95
R8539:Galnt13	UTSW	2	54,823,584 (GRCm39)	splice site	probably null
R8885:Galnt13	UTSW	2	54,770,138 (GRCm39)	missense	probably benign
R8946:Galnt13	UTSW	2	54,770,075 (GRCm39)	missense	probably benign	0.29
R9306:Galnt13	UTSW	2	54,823,569 (GRCm39)	missense	probably benign	0.01
R9340:Galnt13	UTSW	2	54,770,161 (GRCm39)	missense	probably damaging	1.00
R9362:Galnt13	UTSW	2	54,623,064 (GRCm39)	missense	probably benign	0.00
R9444:Galnt13	UTSW	2	55,002,928 (GRCm39)	missense	probably benign
R9590:Galnt13	UTSW	2	54,747,973 (GRCm39)	missense	probably benign	0.02
R9779:Galnt13	UTSW	2	54,623,062 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCATACCTCCATCATGATGAGC -3'
(R):5'- GGACTCATCTATTTTGAGGTCTCC -3'

Sequencing Primer
(F):5'- GCTTTTGTCCTGGAGATCA -3'
(R):5'- GAGGTCTCCTACTCTGTTGACC -3'

Posted On

2016-04-15