Mutagenetix > Incidental Mutation

Incidental Mutation 'R7489:Galnt1'

580444

Institutional Source

Beutler Lab

Gene Symbol

Galnt1

Ensembl Gene

ENSMUSG00000000420

Gene Name

polypeptide N-acetylgalactosaminyltransferase 1

Synonyms

ppGaNTase-T1

MMRRC Submission

045563-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.893) question?

Stock #

R7489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24338401-24419873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24415214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 485 (V485D)

Ref Sequence

ENSEMBL: ENSMUSP00000000430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000430] [ENSMUST00000170243] [ENSMUST00000178605]

AlphaFold

O08912

PDB Structure

The Crystal Structure of UDP-GalNAc: polypeptide alpha-N-acetylgalactosaminyltransferase-T1 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000000430
AA Change: V485D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000430
Gene: ENSMUSG00000000420
AA Change: V485D

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	116	369	3.2e-11	PFAM
Pfam:Glycos_transf_2	119	303	3.1e-40	PFAM
Pfam:Glyco_transf_7C	281	349	9.1e-10	PFAM
RICIN	426	551	1.25e-32	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170243
AA Change: V485D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132142
Gene: ENSMUSG00000000420
AA Change: V485D

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	116	369	1.7e-12	PFAM
Pfam:Glycos_transf_2	119	303	9.2e-37	PFAM
Pfam:Glyco_tranf_2_2	119	344	7.1e-7	PFAM
Pfam:Glyco_transf_7C	281	349	1.4e-8	PFAM
RICIN	426	551	1.25e-32	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178605
AA Change: V485D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137427
Gene: ENSMUSG00000000420
AA Change: V485D

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	116	369	1.7e-12	PFAM
Pfam:Glycos_transf_2	119	303	9.2e-37	PFAM
Pfam:Glyco_tranf_2_2	119	344	7.1e-7	PFAM
Pfam:Glyco_transf_7C	281	349	1.4e-8	PFAM
RICIN	426	551	1.25e-32	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality, increased bleeding time, decreased T and B cells, impaired leukocyte rolling, decreased IgG levels, and hypoalbuminemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	T	16: 88,424,122 (GRCm39)	V123D	probably damaging	Het
4930503E14Rik	A	T	14: 44,407,756 (GRCm39)	N92K	probably damaging	Het
4930519G04Rik	T	C	5: 115,017,686 (GRCm39)	S166P	unknown	Het
Abtb3	T	A	10: 85,463,079 (GRCm39)	Y615N	probably damaging	Het
Adgrb3	G	A	1: 25,586,586 (GRCm39)	T369I	probably damaging	Het
Agbl4	T	C	4: 111,383,855 (GRCm39)	S237P	probably damaging	Het
Ahi1	T	C	10: 20,839,649 (GRCm39)	C187R	probably benign	Het
Akap9	C	T	5: 4,054,933 (GRCm39)	T1626M	probably damaging	Het
Alas1	A	T	9: 106,118,833 (GRCm39)		probably null	Het
Apbb1	G	T	7: 105,216,687 (GRCm39)	T301N	probably benign	Het
Arhgap42	A	G	9: 9,006,359 (GRCm39)	V679A	probably benign	Het
Atp2a2	T	C	5: 122,605,830 (GRCm39)	D375G	probably benign	Het
Best1	A	G	19: 9,974,410 (GRCm39)	S45P	possibly damaging	Het
Bpifb4	A	C	2: 153,785,924 (GRCm39)	T21P	probably damaging	Het
Cdx2	A	T	5: 147,243,482 (GRCm39)	M104K	probably benign	Het
Ces1d	A	T	8: 93,904,759 (GRCm39)	L327Q	probably damaging	Het
Ces2e	A	G	8: 105,656,412 (GRCm39)	H214R	probably benign	Het
Chd5	G	A	4: 152,457,925 (GRCm39)	G1014D	probably damaging	Het
Cmya5	T	A	13: 93,228,346 (GRCm39)	K2247N	possibly damaging	Het
Dip2c	T	C	13: 9,583,348 (GRCm39)	V110A	probably damaging	Het
Fancd2	T	C	6: 113,541,265 (GRCm39)	S724P	probably benign	Het
Garin3	G	C	11: 46,298,268 (GRCm39)	G524A		Het
Gli2	A	G	1: 118,765,905 (GRCm39)	S749P	probably benign	Het
H2-M5	A	C	17: 37,300,363 (GRCm39)	L12V	unknown	Het
Iqcf6	C	A	9: 106,504,656 (GRCm39)	Q107K	probably benign	Het
Itfg1	C	T	8: 86,493,630 (GRCm39)	C283Y	probably damaging	Het
Jak3	A	C	8: 72,136,936 (GRCm39)	K704T	probably damaging	Het
Kl	A	T	5: 150,876,461 (GRCm39)	T94S	probably damaging	Het
Krt73	A	C	15: 101,702,294 (GRCm39)	V523G	probably benign	Het
Lap3	T	C	5: 45,657,848 (GRCm39)	F215L	probably damaging	Het
Lce1c	G	A	3: 92,587,954 (GRCm39)	C127Y	unknown	Het
Map6	C	T	7: 98,917,268 (GRCm39)	R14C	probably damaging	Het
Mcm10	T	A	2: 5,006,112 (GRCm39)	K410M	probably damaging	Het
Med23	T	A	10: 24,780,254 (GRCm39)	N967K	probably damaging	Het
Mmp8	A	T	9: 7,561,388 (GRCm39)	T131S	probably benign	Het
Ms4a14	T	C	19: 11,279,395 (GRCm39)	I1054M	probably benign	Het
Mup14	A	G	4: 61,259,887 (GRCm39)	M1T	probably null	Het
Myzap	T	A	9: 71,468,320 (GRCm39)	T110S	probably benign	Het
Nmrk1	A	T	19: 18,619,606 (GRCm39)	K153M	probably damaging	Het
Nmrk1	G	T	19: 18,619,607 (GRCm39)	K153N	possibly damaging	Het
Or4x12-ps1	T	A	2: 89,916,704 (GRCm39)	M34L	probably benign	Het
Or6c70	A	T	10: 129,710,551 (GRCm39)	I25N	probably damaging	Het
Pcdh12	T	C	18: 38,414,842 (GRCm39)	H761R	possibly damaging	Het
Pde4d	C	A	13: 109,253,301 (GRCm39)	L43I	unknown	Het
Prrc2a	A	T	17: 35,381,330 (GRCm39)	S46R	unknown	Het
Rab19	A	G	6: 39,365,039 (GRCm39)	T100A	probably benign	Het
Rad51b	C	T	12: 79,347,359 (GRCm39)	R8*	probably null	Het
Sclt1	A	T	3: 41,584,032 (GRCm39)	L642Q	probably damaging	Het
Scyl3	T	C	1: 163,776,745 (GRCm39)	I392T	possibly damaging	Het
Sipa1l3	A	G	7: 29,066,127 (GRCm39)	W1076R	probably damaging	Het
Slc12a9	C	A	5: 137,321,082 (GRCm39)	A478S	probably damaging	Het
Slc5a9	C	A	4: 111,741,113 (GRCm39)	C511F	probably damaging	Het
Sspo	T	C	6: 48,450,647 (GRCm39)	L2612P	probably damaging	Het
Synrg	C	T	11: 83,881,651 (GRCm39)	T329I	probably benign	Het
Tdrd9	A	G	12: 112,034,071 (GRCm39)	T1338A	probably benign	Het
Tenm4	A	T	7: 96,486,521 (GRCm39)	D996V	possibly damaging	Het
Ticam2	T	A	18: 46,693,584 (GRCm39)	I168L	probably damaging	Het
Tom1l1	T	C	11: 90,547,185 (GRCm39)	I374M	probably benign	Het
Trip10	A	T	17: 57,557,966 (GRCm39)	K51I	probably damaging	Het
Trpc6	T	A	9: 8,656,545 (GRCm39)	D735E	probably benign	Het
Trpm8	T	A	1: 88,307,481 (GRCm39)	N1050K	possibly damaging	Het
Tuba8	A	T	6: 121,202,980 (GRCm39)	D431V	probably damaging	Het
Ucn2	C	T	9: 108,815,322 (GRCm39)	T28I	possibly damaging	Het
Vmn1r21	C	T	6: 57,820,877 (GRCm39)	G189D	probably damaging	Het
Vmn2r8	T	C	5: 108,945,522 (GRCm39)	N695S	possibly damaging	Het
Xirp2	A	C	2: 67,355,904 (GRCm39)	N3555T	possibly damaging	Het
Zfp119a	A	T	17: 56,173,158 (GRCm39)	H228Q	probably damaging	Het
Zfr	T	A	15: 12,153,068 (GRCm39)	H566Q	probably benign	Het

Other mutations in Galnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01833:Galnt1	APN	18	24,400,617 (GRCm39)	missense	probably damaging	1.00
IGL02373:Galnt1	APN	18	24,413,092 (GRCm39)	missense	possibly damaging	0.68
IGL02998:Galnt1	APN	18	24,397,469 (GRCm39)	missense	probably damaging	1.00
IGL03080:Galnt1	APN	18	24,402,574 (GRCm39)	missense	probably damaging	0.99
debonair	UTSW	18	24,404,686 (GRCm39)	missense	probably damaging	1.00
R0234:Galnt1	UTSW	18	24,387,690 (GRCm39)	missense	probably damaging	1.00
R0234:Galnt1	UTSW	18	24,387,690 (GRCm39)	missense	probably damaging	1.00
R0463:Galnt1	UTSW	18	24,387,582 (GRCm39)	missense	probably benign	0.01
R1183:Galnt1	UTSW	18	24,404,647 (GRCm39)	missense	probably damaging	1.00
R1954:Galnt1	UTSW	18	24,404,831 (GRCm39)	splice site	probably benign
R2349:Galnt1	UTSW	18	24,413,085 (GRCm39)	missense	probably benign	0.03
R3739:Galnt1	UTSW	18	24,404,712 (GRCm39)	missense	probably benign	0.27
R4223:Galnt1	UTSW	18	24,371,413 (GRCm39)	missense	probably benign	0.27
R5001:Galnt1	UTSW	18	24,404,812 (GRCm39)	missense	probably benign
R5410:Galnt1	UTSW	18	24,400,604 (GRCm39)	missense	probably benign	0.02
R5516:Galnt1	UTSW	18	24,413,074 (GRCm39)	missense	probably benign	0.00
R5685:Galnt1	UTSW	18	24,397,586 (GRCm39)	missense	possibly damaging	0.81
R5687:Galnt1	UTSW	18	24,405,807 (GRCm39)	missense	probably benign	0.00
R5735:Galnt1	UTSW	18	24,397,577 (GRCm39)	missense	possibly damaging	0.64
R6106:Galnt1	UTSW	18	24,387,720 (GRCm39)	missense	probably benign	0.31
R6222:Galnt1	UTSW	18	24,397,591 (GRCm39)	critical splice donor site	probably null
R7448:Galnt1	UTSW	18	24,417,866 (GRCm39)	missense	probably benign	0.00
R8310:Galnt1	UTSW	18	24,404,686 (GRCm39)	missense	probably damaging	1.00
R8408:Galnt1	UTSW	18	24,400,628 (GRCm39)	missense	probably benign	0.44
R8884:Galnt1	UTSW	18	24,400,641 (GRCm39)	missense	probably benign	0.00
R8989:Galnt1	UTSW	18	24,402,567 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- ATATGCTCCTCTGTGTCTGTTGAAG -3'
(R):5'- GAACATCACATTGGGGCCAC -3'

Sequencing Primer
(F):5'- CCTCTGTGTCTGTTGAAGTTAATTC -3'
(R):5'- CACGTGTAGCAGCCGTTATTAAC -3'

Posted On

2019-10-07