Mutagenetix > Incidental Mutation

Incidental Mutation 'R7058:Galnt13'

548033

Institutional Source

Beutler Lab

Gene Symbol

Galnt13

Ensembl Gene

ENSMUSG00000060988

Gene Name

polypeptide N-acetylgalactosaminyltransferase 13

Synonyms

pp-GalNAc-T13

MMRRC Submission

045155-MU

Accession Numbers

Essential gene?

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

Stock #

R7058 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54326329-55008321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54988587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 470 (T470A)

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: T470A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: T470A

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: T506A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: T506A

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: T470A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: T470A

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: T470A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: T470A

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (87/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,275,554 (GRCm39)	I419T	possibly damaging	Het
Afap1	T	C	5: 36,119,604 (GRCm39)	V294A	probably benign	Het
Amotl1	T	A	9: 14,486,532 (GRCm39)	Q454L	possibly damaging	Het
Ap2a1	T	C	7: 44,550,215 (GRCm39)	S961G	probably damaging	Het
Asxl3	A	G	18: 22,650,731 (GRCm39)	K907E	probably damaging	Het
BC028528	A	T	3: 95,792,323 (GRCm39)	L137I	possibly damaging	Het
Cand1	A	T	10: 119,047,659 (GRCm39)	N610K	probably benign	Het
Cat	A	G	2: 103,304,698 (GRCm39)	I109T	probably benign	Het
Ccdc18	T	C	5: 108,341,664 (GRCm39)	V853A	probably benign	Het
Chd4	C	A	6: 125,085,405 (GRCm39)	D805E	possibly damaging	Het
Cnih1	A	C	14: 47,017,652 (GRCm39)	F77V	probably damaging	Het
Cntd1	A	T	11: 101,178,252 (GRCm39)	I284F	probably damaging	Het
Col6a3	C	A	1: 90,755,759 (GRCm39)	E177*	probably null	Het
Cpxm2	T	A	7: 131,745,408 (GRCm39)	D139V	probably benign	Het
Cyp1a2	G	T	9: 57,584,525 (GRCm39)	R510S	probably damaging	Het
D2hgdh	T	C	1: 93,763,096 (GRCm39)	S294P	probably damaging	Het
Dchs1	A	G	7: 105,406,228 (GRCm39)	C2335R	probably benign	Het
Disc1	G	T	8: 125,977,724 (GRCm39)	C719F	probably damaging	Het
Dnah14	A	C	1: 181,525,614 (GRCm39)	D2180A	probably benign	Het
Dop1b	G	A	16: 93,573,878 (GRCm39)	R1582Q	probably benign	Het
Dsg2	A	T	18: 20,725,332 (GRCm39)	H481L	probably benign	Het
Epha6	A	G	16: 59,503,013 (GRCm39)	S965P	probably damaging	Het
Esrrg	G	T	1: 187,882,503 (GRCm39)	L253F	probably damaging	Het
Exoc6b	T	C	6: 84,831,704 (GRCm39)	K438R	probably damaging	Het
Fam98a	C	A	17: 75,845,384 (GRCm39)	R454L	unknown	Het
Fam98c	A	T	7: 28,855,308 (GRCm39)		probably null	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Ggt7	A	T	2: 155,345,015 (GRCm39)		probably null	Het
Golim4	T	C	3: 75,785,957 (GRCm39)	E606G	probably damaging	Het
Gpd2	G	A	2: 57,197,112 (GRCm39)		probably null	Het
Grin2b	T	C	6: 135,757,304 (GRCm39)	M386V	probably damaging	Het
Hfm1	A	T	5: 107,059,306 (GRCm39)	S239T	probably benign	Het
Hmcn1	G	A	1: 150,649,641 (GRCm39)	T615I	probably benign	Het
Hook2	G	A	8: 85,724,040 (GRCm39)	E446K	possibly damaging	Het
Hsd3b1	C	T	3: 98,765,131 (GRCm39)		probably null	Het
Igsf9b	A	G	9: 27,234,150 (GRCm39)	Y421C	probably damaging	Het
Il21	A	G	3: 37,286,629 (GRCm39)	L29P	probably damaging	Het
Ildr1	A	G	16: 36,542,730 (GRCm39)	S421G	probably benign	Het
Kat2b	C	A	17: 53,972,894 (GRCm39)	T736K	probably benign	Het
Kcng1	A	G	2: 168,104,529 (GRCm39)	V439A	probably damaging	Het
Kif21a	A	T	15: 90,833,106 (GRCm39)		probably null	Het
Lat	A	G	7: 125,968,318 (GRCm39)		probably null	Het
Mastl	T	A	2: 23,023,425 (GRCm39)	K433*	probably null	Het
Mettl2	A	G	11: 105,019,719 (GRCm39)	R119G	probably benign	Het
Mia2	C	T	12: 59,231,021 (GRCm39)	P1223L	possibly damaging	Het
Mkrn2os	G	T	6: 115,563,635 (GRCm39)	D133E	probably benign	Het
Mslnl	A	G	17: 25,962,186 (GRCm39)	T195A	probably benign	Het
Muc16	T	G	9: 18,551,051 (GRCm39)	T5081P	probably benign	Het
Mylpf	G	C	7: 126,813,139 (GRCm39)	R110P	probably damaging	Het
Myo19	G	T	11: 84,798,194 (GRCm39)	C738F	possibly damaging	Het
Nat8f4	T	A	6: 85,878,271 (GRCm39)	N84I	possibly damaging	Het
Nol8	C	T	13: 49,829,862 (GRCm39)	R1104C	probably damaging	Het
Notch1	A	T	2: 26,353,830 (GRCm39)	D1932E	probably benign	Het
Nsun3	A	T	16: 62,596,663 (GRCm39)	C152S	possibly damaging	Het
Opcml	G	A	9: 28,586,507 (GRCm39)	W75*	probably null	Het
Or14j10	A	G	17: 37,934,597 (GRCm39)	F310L	probably benign	Het
Pcdh7	G	A	5: 57,879,582 (GRCm39)	E1046K	probably damaging	Het
Pcdhb9	T	A	18: 37,536,334 (GRCm39)	V776D	probably benign	Het
Pla2g4a	A	G	1: 149,727,103 (GRCm39)	L551S	probably damaging	Het
Plaa	G	A	4: 94,458,060 (GRCm39)	Q637*	probably null	Het
Plekhh1	A	T	12: 79,122,204 (GRCm39)	E1099V	probably damaging	Het
Ppp4r1	A	T	17: 66,136,495 (GRCm39)	N551Y	probably benign	Het
R3hdm2	T	C	10: 127,320,382 (GRCm39)	V554A	probably damaging	Het
Rab44	A	G	17: 29,357,150 (GRCm39)		probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rasgrf2	T	C	13: 92,034,521 (GRCm39)	T1119A	probably damaging	Het
Rims2	A	G	15: 39,449,044 (GRCm39)	D1194G	probably damaging	Het
Scarb1	A	T	5: 125,374,294 (GRCm39)	C280S	probably damaging	Het
Sde2	T	C	1: 180,693,827 (GRCm39)	F439S	probably damaging	Het
Setd5	T	C	6: 113,092,532 (GRCm39)	I304T	probably benign	Het
Sipa1l1	A	G	12: 82,449,896 (GRCm39)	E1106G	probably benign	Het
Sis	T	G	3: 72,810,940 (GRCm39)	S1694R	probably damaging	Het
Smad9	T	A	3: 54,693,614 (GRCm39)	F181Y	probably benign	Het
Smg1	A	G	7: 117,797,502 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,425,516 (GRCm39)	Y46H	probably damaging	Het
Tdrd12	A	G	7: 35,177,534 (GRCm39)	M940T	unknown	Het
Tmem44	G	T	16: 30,366,213 (GRCm39)	T71K	possibly damaging	Het
Tmf1	T	A	6: 97,133,911 (GRCm39)	E1009V	probably damaging	Het
Ttc39a	C	T	4: 109,288,763 (GRCm39)	R288W	probably damaging	Het
Ttc9c	G	A	19: 8,796,191 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,950,456 (GRCm39)	Y634N	probably damaging	Het
Vmn1r211	C	T	13: 23,036,063 (GRCm39)	M201I	probably benign	Het
Vmn2r54	T	A	7: 12,349,722 (GRCm39)	Q620L	possibly damaging	Het
Vps13c	T	C	9: 67,831,110 (GRCm39)	L1580P	probably benign	Het
Vrk3	C	A	7: 44,417,890 (GRCm39)	F308L	probably damaging	Het
Zdbf2	T	A	1: 63,346,563 (GRCm39)	H1647Q	possibly damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	probably benign	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
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
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'- CAGCACATGAACGTTTACTGATG -3'
(R):5'- AGCGTACGTATTCAGGGAGG -3'

Sequencing Primer
(F):5'- CCAGTCTTCCCTGGGAGATGATG -3'
(R):5'- CGTACGTATTCAGGGAGGAATAAGTC -3'

Posted On

2019-05-13