Mutagenetix > Incidental Mutation

Incidental Mutation 'R8989:Galnt1'

684319

Institutional Source

Beutler Lab

Gene Symbol

Galnt1

Ensembl Gene

ENSMUSG00000000420

Gene Name

polypeptide N-acetylgalactosaminyltransferase 1

Synonyms

ppGaNTase-T1

MMRRC Submission

068821-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.893) question?

Stock #

R8989 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24338401-24419873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24402567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 308 (T308I)

Ref Sequence

ENSEMBL: ENSMUSP00000000430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000430] [ENSMUST00000170243] [ENSMUST00000171583] [ENSMUST00000178605]

AlphaFold

O08912

PDB Structure

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000430
AA Change: T308I

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000000430
Gene: ENSMUSG00000000420
AA Change: T308I

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 benign
Transcript: ENSMUST00000164066

SMART Domains

Protein: ENSMUSP00000130238
Gene: ENSMUSG00000000420

Domain	Start	End	E-Value	Type
PDB:2D7R\|A	2	44	6e-6	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170243
AA Change: T308I

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132142
Gene: ENSMUSG00000000420
AA Change: T308I

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 benign
Transcript: ENSMUST00000171583

SMART Domains

Protein: ENSMUSP00000131755
Gene: ENSMUSG00000000420

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178605
AA Change: T308I

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137427
Gene: ENSMUSG00000000420
AA Change: T308I

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

Meta Mutation Damage Score

0.1505

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,760,724 (GRCm39)	I1260M	probably benign	Het
A1cf	T	A	19: 31,904,556 (GRCm39)	F273Y	possibly damaging	Het
A3galt2	T	C	4: 128,655,231 (GRCm39)	W45R	probably damaging	Het
Adam23	A	G	1: 63,588,948 (GRCm39)	E460G	probably damaging	Het
Ago1	T	A	4: 126,357,583 (GRCm39)	T31S	probably benign	Het
Ago3	T	A	4: 126,298,191 (GRCm39)	T110S	probably damaging	Het
Akap6	T	C	12: 52,927,654 (GRCm39)	F188S	probably damaging	Het
Asic2	G	A	11: 81,043,180 (GRCm39)	P38S	probably benign	Het
Astn2	A	T	4: 65,499,890 (GRCm39)	C1000S	possibly damaging	Het
Atp10b	T	A	11: 43,136,269 (GRCm39)	C1132*	probably null	Het
Atp7b	A	T	8: 22,510,911 (GRCm39)	S527T	probably benign	Het
Bod1l	G	A	5: 41,979,025 (GRCm39)	T763I	probably benign	Het
Capn11	A	G	17: 45,954,783 (GRCm39)	L118P	probably damaging	Het
Col13a1	T	C	10: 61,696,250 (GRCm39)	E589G	unknown	Het
Col6a2	T	C	10: 76,440,015 (GRCm39)	D630G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,660 (GRCm39)	R423H	probably damaging	Het
Dld	G	A	12: 31,383,458 (GRCm39)	T447I	probably damaging	Het
Eif4g3	T	C	4: 137,912,059 (GRCm39)	L1227S	probably damaging	Het
Elac1	C	A	18: 73,880,310 (GRCm39)	E29*	probably null	Het
Entrep1	T	A	19: 23,962,196 (GRCm39)	Q269L	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fancc	G	T	13: 63,548,090 (GRCm39)	L70M	possibly damaging	Het
Fgd6	T	A	10: 93,959,425 (GRCm39)	M1041K	probably damaging	Het
Fn1	A	G	1: 71,663,446 (GRCm39)	V1014A	possibly damaging	Het
Garre1	T	C	7: 33,956,869 (GRCm39)	Q332R	probably damaging	Het
Gpr63	T	A	4: 25,007,357 (GRCm39)	V27D	possibly damaging	Het
Hcfc2	T	C	10: 82,536,822 (GRCm39)	V78A	probably damaging	Het
Hexd	T	A	11: 121,109,136 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,668,960 (GRCm39)	T479A	possibly damaging	Het
Hkdc1	T	C	10: 62,229,544 (GRCm39)	D711G	probably damaging	Het
Ifna16	A	T	4: 88,594,912 (GRCm39)	F61Y	probably damaging	Het
Insrr	T	A	3: 87,722,664 (GRCm39)	N1295K	probably damaging	Het
Kif5b	T	A	18: 6,209,021 (GRCm39)	R914W	probably damaging	Het
Lpo	T	C	11: 87,708,660 (GRCm39)	T113A	probably benign	Het
Mmp21	T	C	7: 133,276,746 (GRCm39)	D419G	probably damaging	Het
Naf1	A	G	8: 67,313,628 (GRCm39)	T204A	possibly damaging	Het
Nsmce4a	T	C	7: 130,141,587 (GRCm39)	T201A	probably benign	Het
Nup160	T	A	2: 90,548,208 (GRCm39)	N980K	probably damaging	Het
Odad2	T	C	18: 7,268,464 (GRCm39)	K352E	probably benign	Het
Or13c7d	T	C	4: 43,770,346 (GRCm39)	I222V	possibly damaging	Het
Or14j2	A	T	17: 37,885,542 (GRCm39)	F257L	probably benign	Het
Or2d3c	T	A	7: 106,526,366 (GRCm39)	Q100L	probably damaging	Het
Pcdhb19	A	G	18: 37,631,476 (GRCm39)	T424A	probably benign	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Pramel28	C	A	4: 143,691,770 (GRCm39)	A318S	probably benign	Het
Psma8	T	A	18: 14,890,404 (GRCm39)	D181E	probably benign	Het
Rhpn2	C	A	7: 35,053,446 (GRCm39)		probably benign	Het
Serpinb6e	G	T	13: 34,022,967 (GRCm39)	H139N	possibly damaging	Het
Slc26a7	T	A	4: 14,533,642 (GRCm39)	I394F	probably damaging	Het
Spmip5	T	C	19: 58,776,153 (GRCm39)	E100G	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Taok3	T	C	5: 117,379,227 (GRCm39)	S421P	probably benign	Het
Tas2r143	T	G	6: 42,377,828 (GRCm39)	D219E	probably damaging	Het
Tcaf1	G	A	6: 42,663,707 (GRCm39)	R58C	probably damaging	Het
Tenm3	A	T	8: 48,688,383 (GRCm39)	Y2401*	probably null	Het
Tut1	T	C	19: 8,937,116 (GRCm39)	V200A	possibly damaging	Het
Unc5c	T	A	3: 141,509,467 (GRCm39)		probably benign	Het
Vmn2r28	T	G	7: 5,493,473 (GRCm39)	I158L	probably benign	Het
Vmn2r72	T	A	7: 85,404,134 (GRCm39)	H19L	probably benign	Het
Xpo4	A	G	14: 57,828,475 (GRCm39)	M795T	probably benign	Het
Zc3h12a	C	A	4: 125,014,743 (GRCm39)	R247L	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	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
R7489:Galnt1	UTSW	18	24,415,214 (GRCm39)	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- AAACCCCGTGGAGATAAACATTGC -3'
(R):5'- CATCAAACTTGAAGGTTCTAGAGTCAG -3'

Sequencing Primer
(F):5'- CCCGTGGAGATAAACATTGCTGAAG -3'
(R):5'- CTAGAGTCAGATTAAAATCACTGA -3'

Posted On

2021-10-11