Mutagenetix > Incidental Mutation

Incidental Mutation 'R5685:Galnt1'

443326

Institutional Source

Beutler Lab

Gene Symbol

Galnt1

Ensembl Gene

ENSMUSG00000000420

Gene Name

polypeptide N-acetylgalactosaminyltransferase 1

Synonyms

ppGaNTase-T1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

R5685 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24338401-24419873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24397586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 229 (D229V)

Ref Sequence

ENSEMBL: ENSMUSP00000137427 (fasta)

Gene Model

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

AlphaFold

O08912

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000430
AA Change: D229V

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000430
Gene: ENSMUSG00000000420
AA Change: D229V

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: D229V

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132142
Gene: ENSMUSG00000000420
AA Change: D229V

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: D229V

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137427
Gene: ENSMUSG00000000420
AA Change: D229V

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: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 43,879,974 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,896,348 (GRCm39)		probably null	Het
Abcg1	G	T	17: 31,317,260 (GRCm39)	E191*	probably null	Het
Als2	A	G	1: 59,218,250 (GRCm39)	Y1263H	possibly damaging	Het
Amer2	T	A	14: 60,617,026 (GRCm39)	L281*	probably null	Het
Anxa6	T	C	11: 54,887,196 (GRCm39)	N361D	probably benign	Het
Ap1g1	A	T	8: 110,564,415 (GRCm39)	N320I	probably damaging	Het
Aqr	T	C	2: 113,986,746 (GRCm39)	D208G	possibly damaging	Het
Arnt2	T	C	7: 83,912,473 (GRCm39)	T545A	probably benign	Het
Aspm	G	A	1: 139,415,026 (GRCm39)	V2701I	probably benign	Het
Atad2	A	G	15: 57,980,194 (GRCm39)	V106A	possibly damaging	Het
Bbs2	A	C	8: 94,814,061 (GRCm39)	F186V	probably damaging	Het
Catsperg2	G	A	7: 29,400,613 (GRCm39)	P247L	probably damaging	Het
Cfap57	G	T	4: 118,426,656 (GRCm39)	Q1098K	probably benign	Het
Cxcr6	A	G	9: 123,639,811 (GRCm39)	T271A	probably benign	Het
Dock1	A	G	7: 134,374,091 (GRCm39)	E579G	probably benign	Het
Frem3	A	G	8: 81,421,932 (GRCm39)	T2111A	probably damaging	Het
Gbp2b	A	C	3: 142,313,919 (GRCm39)	M400L	probably benign	Het
Gm1123	T	A	9: 98,891,486 (GRCm39)		probably null	Het
Gtpbp6	T	C	5: 110,252,805 (GRCm39)	H349R	probably damaging	Het
Hyal5	A	G	6: 24,876,691 (GRCm39)	K188R	probably benign	Het
Insrr	T	C	3: 87,707,803 (GRCm39)		probably null	Het
Kcnn1	A	T	8: 71,305,374 (GRCm39)	C322S	probably damaging	Het
Kdelr1	GTCTA	G	7: 45,531,041 (GRCm39)		probably null	Het
Kif23	T	C	9: 61,852,691 (GRCm39)	T8A	probably benign	Het
Lrrk2	A	T	15: 91,687,504 (GRCm39)	R2198*	probably null	Het
Mcl1	T	G	3: 95,567,109 (GRCm39)	D177E	possibly damaging	Het
Mrps11	A	T	7: 78,441,628 (GRCm39)	T137S	probably benign	Het
Mtbp	A	G	15: 55,426,168 (GRCm39)	Y90C	probably damaging	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nxt1	G	T	2: 148,517,673 (GRCm39)	W138L	possibly damaging	Het
Or5al1	T	C	2: 85,990,139 (GRCm39)	T192A	probably damaging	Het
Or5h17	T	A	16: 58,820,709 (GRCm39)	F220L	probably benign	Het
Or5t17	T	A	2: 86,832,621 (GRCm39)	S103T	probably benign	Het
Osbpl7	C	A	11: 96,951,103 (GRCm39)	P478H	probably damaging	Het
Phf8-ps	T	A	17: 33,285,746 (GRCm39)	H352L	probably benign	Het
Pitpna	T	A	11: 75,511,095 (GRCm39)	F222I	probably damaging	Het
Plekhh2	A	T	17: 84,877,310 (GRCm39)	R552W	probably damaging	Het
Plxnb2	C	T	15: 89,051,235 (GRCm39)	R328H	probably damaging	Het
Pmaip1	C	T	18: 66,594,055 (GRCm39)	T65I	probably benign	Het
Ppil4	T	G	10: 7,674,186 (GRCm39)	I110S	probably damaging	Het
Prpf38a	A	G	4: 108,427,351 (GRCm39)		probably null	Het
Psme4	G	A	11: 30,759,837 (GRCm39)	G320D	probably damaging	Het
Rab17	C	A	1: 90,886,679 (GRCm39)	R191L	probably benign	Het
Rhag	A	T	17: 41,142,222 (GRCm39)	M222L	possibly damaging	Het
Rims2	A	T	15: 39,300,602 (GRCm39)	H111L	possibly damaging	Het
Setx	T	C	2: 29,061,292 (GRCm39)	Y2234H	probably damaging	Het
Slc2a8	T	C	2: 32,871,801 (GRCm39)	I51V	possibly damaging	Het
Slc34a1	T	C	13: 55,549,085 (GRCm39)		probably null	Het
Slf1	T	C	13: 77,231,598 (GRCm39)	T594A	possibly damaging	Het
Sox6	A	T	7: 115,178,392 (GRCm39)		probably null	Het
Spata13	C	T	14: 60,928,652 (GRCm39)	S70L	probably benign	Het
Stard13	A	G	5: 150,986,592 (GRCm39)	I188T	possibly damaging	Het
Stard9	A	G	2: 120,535,803 (GRCm39)	D4020G	probably damaging	Het
Tdp1	A	G	12: 99,868,611 (GRCm39)	K255R	possibly damaging	Het
Tns2	G	T	15: 102,015,538 (GRCm39)	A124S	probably benign	Het
Top2b	T	A	14: 16,413,666 (GRCm38)	W1045R	probably damaging	Het
Trav12-2	T	C	14: 53,854,122 (GRCm39)	V32A	probably damaging	Het
Vps13c	G	T	9: 67,870,455 (GRCm39)	R3198L	possibly damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp52	T	A	17: 21,782,013 (GRCm39)	S620R	probably benign	Het
Zfp62	T	A	11: 49,107,044 (GRCm39)	C378*	probably null	Het
Zfp638	C	A	6: 83,906,969 (GRCm39)	P378H	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
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
R8989:Galnt1	UTSW	18	24,402,567 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- ACTGAAAGTGCCGGTTCATG -3'
(R):5'- CCATTTGGTCAACAGAGCATG -3'

Sequencing Primer
(F):5'- CTGAAAGTGCCGGTTCATGTAATTC -3'
(R):5'- GCAAATGTGTTAACTGCCAGAC -3'

Posted On

2016-11-09