Mutagenetix > Incidental Mutation

Incidental Mutation 'R1539:Galnt13'

171518

Institutional Source

Beutler Lab

Gene Symbol

Galnt13

Ensembl Gene

ENSMUSG00000060988

Gene Name

polypeptide N-acetylgalactosaminyltransferase 13

Synonyms

pp-GalNAc-T13

MMRRC Submission

039578-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R1539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54326329-55008321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54747869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 250 (G250E)

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: G250E

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

SMART Domains

Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: G250E

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: G250E

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

SMART Domains

Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: G250E

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: G250E

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

SMART Domains

Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: G250E

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: G250E

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

SMART Domains

Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: G250E

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: 99.0%
3x: 97.9%
10x: 94.9%
20x: 88.0%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,652,097 (GRCm39)		probably null	Het
Adh7	A	C	3: 137,929,716 (GRCm39)	T131P	possibly damaging	Het
Agxt	G	A	1: 93,065,701 (GRCm39)	G190D	probably damaging	Het
AI182371	A	G	2: 34,978,815 (GRCm39)	I193T	probably damaging	Het
Akna	T	A	4: 63,297,547 (GRCm39)	T836S	probably benign	Het
Alox12	T	C	11: 70,144,069 (GRCm39)		probably null	Het
Anapc2	C	A	2: 25,163,075 (GRCm39)	T104K	probably benign	Het
Ank1	T	C	8: 23,583,935 (GRCm39)	L346P	probably damaging	Het
Ankfn1	A	T	11: 89,332,217 (GRCm39)	I443N	probably damaging	Het
Arhgef17	G	A	7: 100,539,680 (GRCm39)	T1066I	probably damaging	Het
Atg2a	C	A	19: 6,296,801 (GRCm39)		probably null	Het
Bpifb5	T	A	2: 154,065,776 (GRCm39)	H24Q	probably benign	Het
Brd9	A	G	13: 74,092,862 (GRCm39)	E283G	probably damaging	Het
Cadm2	C	A	16: 66,581,727 (GRCm39)	V184F	probably damaging	Het
Casr	A	G	16: 36,315,499 (GRCm39)	V857A	probably benign	Het
Ccdc18	A	T	5: 108,339,843 (GRCm39)	Q796L	probably damaging	Het
Cep290	T	C	10: 100,332,690 (GRCm39)	V263A	probably benign	Het
Clec10a	A	T	11: 70,060,645 (GRCm39)	N167Y	probably damaging	Het
Cog1	A	G	11: 113,543,058 (GRCm39)	I189V	possibly damaging	Het
Commd2	A	G	3: 57,554,269 (GRCm39)	I144T	probably benign	Het
Cse1l	A	G	2: 166,768,292 (GRCm39)	T197A	probably benign	Het
Csmd3	A	T	15: 47,683,794 (GRCm39)	S1783R	probably benign	Het
Cxxc1	T	C	18: 74,352,278 (GRCm39)	V334A	possibly damaging	Het
Dennd2d	A	G	3: 106,394,236 (GRCm39)	I39V	probably benign	Het
Dgkz	G	A	2: 91,768,405 (GRCm39)	P734S	probably damaging	Het
Diaph3	T	C	14: 86,893,916 (GRCm39)	D31G	probably damaging	Het
Dlec1	T	C	9: 118,956,518 (GRCm39)	S731P	probably benign	Het
Dmac2l	G	A	12: 69,787,845 (GRCm39)	D94N	probably benign	Het
Dnah11	T	C	12: 117,894,991 (GRCm39)	R3619G	probably benign	Het
Doc2b	A	G	11: 75,662,783 (GRCm39)	L405P	probably damaging	Het
Dock3	A	T	9: 106,829,563 (GRCm39)	I1117N	probably damaging	Het
Dock3	G	A	9: 106,874,112 (GRCm39)	A453V	probably benign	Het
Ece2	T	A	16: 20,461,263 (GRCm39)	I474N	probably damaging	Het
Etv4	A	T	11: 101,662,513 (GRCm39)		probably null	Het
Fam171b	A	T	2: 83,710,442 (GRCm39)	M705L	probably benign	Het
Frem2	T	C	3: 53,561,631 (GRCm39)	K959E	probably benign	Het
Fyn	T	C	10: 39,408,066 (GRCm39)	M251T	possibly damaging	Het
Ggh	T	C	4: 20,054,204 (GRCm39)		probably null	Het
Glcci1	A	G	6: 8,591,620 (GRCm39)	E222G	probably damaging	Het
Gm1968	G	A	16: 29,777,659 (GRCm39)		noncoding transcript	Het
Gm3604	T	A	13: 62,519,414 (GRCm39)	I52F	possibly damaging	Het
Gm43302	T	C	5: 105,422,635 (GRCm39)	I466V	probably benign	Het
Gm9789	T	C	16: 88,955,034 (GRCm39)	S48P	unknown	Het
Gpat3	A	T	5: 101,031,254 (GRCm39)	Y136F	probably benign	Het
Gpr171	T	C	3: 59,005,142 (GRCm39)	D211G	possibly damaging	Het
Grep1	T	A	17: 23,936,118 (GRCm39)		probably benign	Het
Hs3st1	T	C	5: 39,771,791 (GRCm39)	K284R	probably benign	Het
Htr2a	C	T	14: 74,882,608 (GRCm39)	A198V	possibly damaging	Het
Ice1	C	A	13: 70,754,023 (GRCm39)	D688Y	probably damaging	Het
Jade1	T	C	3: 41,559,431 (GRCm39)	M504T	probably benign	Het
Lrp1	T	C	10: 127,420,250 (GRCm39)		probably null	Het
Lsr	A	T	7: 30,671,517 (GRCm39)	I72N	possibly damaging	Het
Magel2	G	A	7: 62,028,557 (GRCm39)	R487H	possibly damaging	Het
Mertk	A	G	2: 128,624,446 (GRCm39)	D619G	probably benign	Het
Myo1b	A	T	1: 51,838,722 (GRCm39)	V245E	probably damaging	Het
Myrip	T	A	9: 120,253,689 (GRCm39)	L254Q	probably benign	Het
Nav3	A	G	10: 109,603,031 (GRCm39)	S1173P	probably damaging	Het
Ncoa7	T	C	10: 30,647,725 (GRCm39)	Y17C	probably damaging	Het
Ncor2	T	C	5: 125,187,003 (GRCm39)	E7G	probably benign	Het
Ninl	A	G	2: 150,817,867 (GRCm39)	V99A	probably damaging	Het
Noct	G	T	3: 51,155,333 (GRCm39)	E34*	probably null	Het
Notch1	A	T	2: 26,362,125 (GRCm39)	Y1043*	probably null	Het
Or10v1	T	C	19: 11,873,855 (GRCm39)	S157P	possibly damaging	Het
Or13a21	T	A	7: 139,999,326 (GRCm39)	Y120F	probably benign	Het
Or2d3	A	G	7: 106,490,483 (GRCm39)	Y278H	probably damaging	Het
Or6c88	G	A	10: 129,406,640 (GRCm39)	G39R	probably damaging	Het
Pde7b	C	A	10: 20,355,432 (GRCm39)	R104L	possibly damaging	Het
Pkn1	C	A	8: 84,396,966 (GRCm39)	R890L	possibly damaging	Het
Podn	A	T	4: 107,878,764 (GRCm39)	Y368N	probably damaging	Het
Polr1b	G	A	2: 128,960,019 (GRCm39)		probably null	Het
Ppp1r3c	A	T	19: 36,711,361 (GRCm39)	F136L	probably benign	Het
Ppp2ca	T	A	11: 52,011,800 (GRCm39)	F260Y	probably damaging	Het
Prss39	A	G	1: 34,537,616 (GRCm39)	S27G	possibly damaging	Het
Ptch1	A	G	13: 63,689,101 (GRCm39)	V340A	probably benign	Het
Ranbp17	T	C	11: 33,247,394 (GRCm39)	I246V	probably damaging	Het
Rilpl1	T	A	5: 124,653,618 (GRCm39)	D181V	probably damaging	Het
Sdk1	T	A	5: 142,080,354 (GRCm39)	V1282D	probably damaging	Het
Sh3rf2	T	C	18: 42,282,887 (GRCm39)	S514P	probably damaging	Het
Slc35f2	A	T	9: 53,716,992 (GRCm39)	I252F	possibly damaging	Het
Slc7a1	A	G	5: 148,272,403 (GRCm39)	Y425H	possibly damaging	Het
Spaca4	G	T	7: 45,374,984 (GRCm39)		probably benign	Het
Spata31d1b	T	C	13: 59,863,733 (GRCm39)	S294P	possibly damaging	Het
Ssh1	T	G	5: 114,090,064 (GRCm39)	T342P	probably damaging	Het
Stk10	T	A	11: 32,483,440 (GRCm39)	S13T	possibly damaging	Het
Tbx1	G	T	16: 18,402,843 (GRCm39)	D214E	probably benign	Het
Tdp1	A	G	12: 99,878,571 (GRCm39)	E453G	probably damaging	Het
Tlr1	T	C	5: 65,084,319 (GRCm39)	Y86C	probably damaging	Het
Tmem241	A	T	18: 12,176,297 (GRCm39)	C124S	possibly damaging	Het
Trp63	A	G	16: 25,703,599 (GRCm39)	M516V	probably benign	Het
Ttc28	T	C	5: 111,248,677 (GRCm39)	V210A	possibly damaging	Het
Tut1	C	T	19: 8,942,850 (GRCm39)	R646W	probably benign	Het
Ubald1	C	T	16: 4,694,261 (GRCm39)	E49K	possibly damaging	Het
Usp28	T	C	9: 48,949,096 (GRCm39)	Y897H	probably benign	Het
Vmn2r27	A	C	6: 124,168,730 (GRCm39)	F800C	probably damaging	Het
Vmn2r83	T	A	10: 79,327,759 (GRCm39)	M789K	probably damaging	Het
Vwa8	A	G	14: 79,300,002 (GRCm39)	D945G	probably benign	Het
Wdhd1	T	A	14: 47,482,507 (GRCm39)	K947N	possibly damaging	Het
Wdr12	A	T	1: 60,123,007 (GRCm39)		probably null	Het
Xrra1	A	T	7: 99,520,564 (GRCm39)	E57V	probably 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
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
R4928:Galnt13	UTSW	2	54,406,577 (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'- AATCTCGGAGGAAATGGTTCAGCAG -3'
(R):5'- GCAGGCAAGAGACTTACAATGGTACAG -3'

Sequencing Primer
(F):5'- TGGTTCAGCAGAGAATAAGGATAAG -3'
(R):5'- TTGGTCACTTCCCATTTAAGAAC -3'

Posted On

2014-04-13