Mutagenetix > Incidental Mutation

Incidental Mutation 'R7184:Galnt4'

559190

Institutional Source

Beutler Lab

Gene Symbol

Galnt4

Ensembl Gene

ENSMUSG00000090035

Gene Name

polypeptide N-acetylgalactosaminyltransferase 4

Synonyms

ppGaNTase-T4

MMRRC Submission

045236-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7184 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98944021-98949109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98944466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 64 (Y64N)

Ref Sequence

ENSEMBL: ENSMUSP00000125315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020113] [ENSMUST00000159228] [ENSMUST00000159990] [ENSMUST00000161240] [ENSMUST00000219884]

AlphaFold

O08832

Predicted Effect

probably benign
Transcript: ENSMUST00000020113

SMART Domains

Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	7	46	1.71e-7	SMART
WD40	49	88	8.68e-9	SMART
WD40	91	130	2.71e-10	SMART
WD40	133	172	2.43e-12	SMART
WD40	175	214	2.07e-6	SMART
WD40	217	256	1.71e-7	SMART
WD40	259	298	7.55e-9	SMART
coiled coil region	428	468	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159228

SMART Domains

Protein: ENSMUSP00000124144
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	7	46	1.71e-7	SMART
WD40	49	88	8.68e-9	SMART
WD40	91	130	2.71e-10	SMART
WD40	133	172	2.43e-12	SMART
WD40	175	214	2.07e-6	SMART
WD40	217	256	1.71e-7	SMART
WD40	259	298	7.55e-9	SMART
coiled coil region	401	441	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159990

SMART Domains

Protein: ENSMUSP00000125423
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	7	46	8.68e-9	SMART
WD40	49	88	2.71e-10	SMART
WD40	91	130	2.43e-12	SMART
WD40	133	172	2.07e-6	SMART
WD40	175	214	1.71e-7	SMART
WD40	217	256	7.55e-9	SMART
coiled coil region	386	426	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161240
AA Change: Y64N

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

SMART Domains

Protein: ENSMUSP00000125315
Gene: ENSMUSG00000090035
AA Change: Y64N

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	135	382	4.7e-10	PFAM
Pfam:Glycos_transf_2	138	321	7.5e-38	PFAM
Pfam:Glyco_tranf_2_2	138	368	1e-7	PFAM
Pfam:Glyco_transf_7C	298	367	4.5e-10	PFAM
low complexity region	411	420	N/A	INTRINSIC
RICIN	445	577	2.39e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000219884

Meta Mutation Damage Score

0.1135

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

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. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010]
PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,094,219 (GRCm39)	S500P	possibly damaging	Het
Aldh9a1	T	A	1: 167,184,965 (GRCm39)	N292K	probably benign	Het
Art2b	A	T	7: 101,229,658 (GRCm39)	S80R	probably benign	Het
Atp6v1b2	G	T	8: 69,555,219 (GRCm39)	A194S	possibly damaging	Het
Bsnd	T	C	4: 106,349,109 (GRCm39)	M44V	probably damaging	Het
Cadps2	A	T	6: 23,583,428 (GRCm39)	V383E	probably benign	Het
Cd93	T	C	2: 148,284,459 (GRCm39)	T296A	possibly damaging	Het
Cdk15	G	T	1: 59,304,814 (GRCm39)	E138D	probably benign	Het
Cdon	A	G	9: 35,375,191 (GRCm39)	I406V	probably benign	Het
Cfhr4	A	G	1: 139,660,822 (GRCm39)	V622A	possibly damaging	Het
Cyp3a41a	A	G	5: 145,642,663 (GRCm39)	V232A	probably benign	Het
Dbndd1	T	A	8: 124,235,860 (GRCm39)	D130V	probably damaging	Het
Dnah14	C	T	1: 181,532,094 (GRCm39)	R2294*	probably null	Het
Eddm3b	A	G	14: 51,354,387 (GRCm39)	Y125C	probably damaging	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Enah	A	T	1: 181,749,957 (GRCm39)	V294E	probably damaging	Het
Farp2	A	G	1: 93,531,137 (GRCm39)	E545G	probably damaging	Het
Farsb	T	C	1: 78,458,994 (GRCm39)	E22G	possibly damaging	Het
Fcsk	G	A	8: 111,613,788 (GRCm39)	P758S	probably damaging	Het
Fezf1	A	G	6: 23,247,835 (GRCm39)	V80A	probably benign	Het
Fpr2	T	C	17: 18,113,533 (GRCm39)	Y39H	unknown	Het
Fsd1l	C	A	4: 53,694,054 (GRCm39)	R344S	probably damaging	Het
Fxyd1	G	T	7: 30,751,401 (GRCm39)	R90S	unknown	Het
Gatb	C	T	3: 85,544,258 (GRCm39)	Q409*	probably null	Het
Glipr2	A	C	4: 43,968,667 (GRCm39)	D73A	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr88	C	T	3: 116,045,643 (GRCm39)	V223I	possibly damaging	Het
Gtf2h3	A	G	5: 124,722,067 (GRCm39)	N55S	probably benign	Het
Htr4	T	A	18: 62,570,498 (GRCm39)	C184*	probably null	Het
Ighv6-3	T	A	12: 114,355,475 (GRCm39)	R71S	probably benign	Het
Itpr2	G	C	6: 146,212,585 (GRCm39)	I1510M	possibly damaging	Het
Keap1	T	C	9: 21,145,134 (GRCm39)	Q292R	probably benign	Het
Mab21l4	T	C	1: 93,082,237 (GRCm39)	N294S	probably benign	Het
Malt1	A	C	18: 65,580,764 (GRCm39)	E219D	probably benign	Het
Manba	T	C	3: 135,228,915 (GRCm39)	V279A	possibly damaging	Het
Map4k5	T	A	12: 69,921,095 (GRCm39)	H41L	probably benign	Het
Mcm2	T	G	6: 88,868,776 (GRCm39)	Y327S	probably damaging	Het
Nectin3	A	G	16: 46,215,484 (GRCm39)	I503T	possibly damaging	Het
Nqo1	T	C	8: 108,119,279 (GRCm39)	I99M	probably damaging	Het
Nrxn2	A	G	19: 6,540,582 (GRCm39)	H845R	probably damaging	Het
Otogl	C	T	10: 107,599,061 (GRCm39)	C2254Y	probably damaging	Het
Pmm1	T	C	15: 81,840,415 (GRCm39)	N110S	probably damaging	Het
Poc1b	G	T	10: 98,970,199 (GRCm39)	C68F	probably benign	Het
Polr1b	A	G	2: 128,965,842 (GRCm39)	Y828C	possibly damaging	Het
Prl3d1	A	G	13: 27,282,619 (GRCm39)	H119R	probably damaging	Het
Pum3	A	G	19: 27,403,412 (GRCm39)	S30P	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rusc1	T	C	3: 88,999,194 (GRCm39)	E196G	possibly damaging	Het
Sf3a3	A	G	4: 124,608,772 (GRCm39)	K29E	probably benign	Het
Slc13a1	A	T	6: 24,092,311 (GRCm39)	I475K	probably damaging	Het
Slc26a5	G	T	5: 22,042,244 (GRCm39)	Y237*	probably null	Het
Slc7a14	C	T	3: 31,281,212 (GRCm39)	G366D	probably damaging	Het
Tbc1d5	A	G	17: 51,107,110 (GRCm39)	V482A	probably benign	Het
Tdrd5	G	T	1: 156,087,505 (GRCm39)	Q883K	probably benign	Het
Tet2	T	C	3: 133,179,391 (GRCm39)	Y1258C	probably damaging	Het
Upf2	A	G	2: 6,028,131 (GRCm39)	D739G	unknown	Het
Vmn1r122	A	T	7: 20,867,820 (GRCm39)	F78L	probably benign	Het
Vmn1r75	A	T	7: 11,614,915 (GRCm39)	K216*	probably null	Het
Vmn2r11	A	T	5: 109,201,281 (GRCm39)	Y408N	probably damaging	Het
Wscd1	T	A	11: 71,679,543 (GRCm39)	V472D	probably damaging	Het
Zdbf2	G	T	1: 63,345,664 (GRCm39)	V1348F	possibly damaging	Het
Zfp442	G	T	2: 150,250,056 (GRCm39)	H615Q	possibly damaging	Het
Zfp457	C	A	13: 67,442,065 (GRCm39)	C170F	possibly damaging	Het
Zscan10	A	G	17: 23,826,003 (GRCm39)		probably null	Het

Other mutations in Galnt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Galnt4	APN	10	98,945,459 (GRCm39)	missense	probably damaging	1.00
IGL01725:Galnt4	APN	10	98,945,819 (GRCm39)	missense	probably damaging	1.00
IGL01871:Galnt4	APN	10	98,945,103 (GRCm39)	missense	probably damaging	1.00
IGL02146:Galnt4	APN	10	98,945,563 (GRCm39)	missense	possibly damaging	0.87
3-1:Galnt4	UTSW	10	98,945,127 (GRCm39)	missense	probably damaging	1.00
R0041:Galnt4	UTSW	10	98,944,374 (GRCm39)	missense	probably benign	0.08
R1318:Galnt4	UTSW	10	98,945,772 (GRCm39)	missense	probably damaging	0.99
R1466:Galnt4	UTSW	10	98,944,571 (GRCm39)	missense	probably benign	0.43
R1466:Galnt4	UTSW	10	98,944,571 (GRCm39)	missense	probably benign	0.43
R1471:Galnt4	UTSW	10	98,944,536 (GRCm39)	missense	probably benign
R1633:Galnt4	UTSW	10	98,945,814 (GRCm39)	missense	possibly damaging	0.88
R2088:Galnt4	UTSW	10	98,945,046 (GRCm39)	missense	probably damaging	1.00
R2197:Galnt4	UTSW	10	98,944,509 (GRCm39)	missense	probably damaging	1.00
R2363:Galnt4	UTSW	10	98,944,923 (GRCm39)	missense	probably damaging	1.00
R2507:Galnt4	UTSW	10	98,945,148 (GRCm39)	missense	possibly damaging	0.78
R3104:Galnt4	UTSW	10	98,945,243 (GRCm39)	missense	probably benign	0.10
R3106:Galnt4	UTSW	10	98,945,243 (GRCm39)	missense	probably benign	0.10
R4599:Galnt4	UTSW	10	98,945,355 (GRCm39)	missense	probably damaging	1.00
R4670:Galnt4	UTSW	10	98,945,160 (GRCm39)	missense	possibly damaging	0.60
R4756:Galnt4	UTSW	10	98,944,362 (GRCm39)	missense	probably benign
R5660:Galnt4	UTSW	10	98,945,397 (GRCm39)	missense	probably benign	0.16
R5819:Galnt4	UTSW	10	98,945,892 (GRCm39)	missense	probably damaging	1.00
R6441:Galnt4	UTSW	10	98,945,960 (GRCm39)	missense	possibly damaging	0.95
R7429:Galnt4	UTSW	10	98,945,610 (GRCm39)	missense	probably damaging	1.00
R7685:Galnt4	UTSW	10	98,945,826 (GRCm39)	missense	probably benign	0.00
R7788:Galnt4	UTSW	10	98,944,975 (GRCm39)	missense	possibly damaging	0.93
R8192:Galnt4	UTSW	10	98,945,118 (GRCm39)	missense	probably benign	0.29
R8896:Galnt4	UTSW	10	98,945,955 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTCCAGCTTCAGGATCCG -3'
(R):5'- GTGGAACTTCTTGGCTTTACACTC -3'

Sequencing Primer
(F):5'- TGGCCGCGTCTACACAC -3'
(R):5'- TCTTGGCTTTACACTCATACATTC -3'

Posted On

2019-06-26