Mutagenetix > Incidental Mutation

Incidental Mutation 'R2507:Galnt4'

251372

Institutional Source

Beutler Lab

Gene Symbol

Galnt4

Ensembl Gene

ENSMUSG00000090035

Gene Name

polypeptide N-acetylgalactosaminyltransferase 4

Synonyms

ppGaNTase-T4

MMRRC Submission

040413-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2507 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98944021-98949109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98945148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 291 (K291R)

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

possibly damaging
Transcript: ENSMUST00000161240
AA Change: K291R

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125315
Gene: ENSMUSG00000090035
AA Change: K291R

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

noncoding transcript
Transcript: ENSMUST00000218379

Predicted Effect

probably benign
Transcript: ENSMUST00000219884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220019

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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. 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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,497,681 (GRCm39)		probably benign	Het
4930535I16Rik	G	A	4: 123,811,740 (GRCm39)		probably benign	Het
Akr1b1	C	T	6: 34,286,999 (GRCm39)	E186K	probably damaging	Het
Apc	A	T	18: 34,449,590 (GRCm39)	N2128I	possibly damaging	Het
Api5	T	C	2: 94,260,162 (GRCm39)	I31M	probably damaging	Het
Armcx4	T	G	X: 133,596,128 (GRCm39)	V2012G	possibly damaging	Het
Aurka	T	C	2: 172,212,365 (GRCm39)	E4G	probably benign	Het
B4galt5	T	A	2: 167,148,558 (GRCm39)	M187L	probably benign	Het
Bsn	T	C	9: 107,993,313 (GRCm39)	D813G	probably damaging	Het
Bub1	A	T	2: 127,643,343 (GRCm39)	D1000E	probably benign	Het
Cacna1f	T	G	X: 7,492,687 (GRCm39)		probably null	Het
Cdh6	A	G	15: 13,041,447 (GRCm39)	I539T	probably benign	Het
Cdhr3	T	C	12: 33,088,914 (GRCm39)	D756G	probably benign	Het
Cenph	A	T	13: 100,907,744 (GRCm39)	D85E	probably benign	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clec2h	A	G	6: 128,650,945 (GRCm39)	N75S	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,029 (GRCm39)	V51E	possibly damaging	Het
Cpne3	A	T	4: 19,553,871 (GRCm39)	N53K	probably damaging	Het
Cpt1b	A	G	15: 89,303,301 (GRCm39)	F585L	probably benign	Het
Daam1	G	A	12: 72,021,997 (GRCm39)	D732N	probably damaging	Het
Dner	A	T	1: 84,560,801 (GRCm39)	C115S	probably damaging	Het
Dop1a	T	A	9: 86,395,170 (GRCm39)	F759Y	probably damaging	Het
Dst	T	C	1: 34,050,990 (GRCm39)	Y29H	probably damaging	Het
Dst	T	C	1: 34,227,498 (GRCm39)	V1875A	possibly damaging	Het
Duox1	A	G	2: 122,163,619 (GRCm39)	D817G	probably benign	Het
Emc2	A	T	15: 43,375,094 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,404,296 (GRCm39)	E51V	probably null	Het
Exoc2	A	G	13: 31,066,348 (GRCm39)	Y443H	possibly damaging	Het
Fbf1	T	C	11: 116,046,252 (GRCm39)	R200G	probably benign	Het
Fdxr	G	A	11: 115,162,806 (GRCm39)	T100I	probably damaging	Het
Galnt11	C	G	5: 25,452,610 (GRCm39)	P41A	probably damaging	Het
Gm12695	T	A	4: 96,642,426 (GRCm39)	E301V	probably damaging	Het
Gopc	C	T	10: 52,229,422 (GRCm39)		probably null	Het
Gria1	A	T	11: 57,180,146 (GRCm39)	T699S	probably null	Het
Gsr	T	G	8: 34,170,316 (GRCm39)	D200E	probably benign	Het
Ikzf2	G	A	1: 69,578,447 (GRCm39)	A282V	probably benign	Het
Irak2	T	C	6: 113,624,639 (GRCm39)	I45T	probably damaging	Het
Irx1	T	C	13: 72,107,939 (GRCm39)	K248E	probably damaging	Het
Kcns3	A	C	12: 11,142,087 (GRCm39)	V204G	possibly damaging	Het
Lmo1	C	A	7: 108,739,848 (GRCm39)	M91I	probably damaging	Het
Map3k21	A	G	8: 126,666,677 (GRCm39)	D623G	possibly damaging	Het
Map4	A	G	9: 109,866,551 (GRCm39)		probably benign	Het
Mark3	T	A	12: 111,593,676 (GRCm39)	V236E	probably damaging	Het
Med23	A	G	10: 24,786,711 (GRCm39)	D939G	probably damaging	Het
Mrgpra9	A	G	7: 46,885,242 (GRCm39)	C142R	possibly damaging	Het
N4bp2	T	A	5: 65,947,404 (GRCm39)	D11E	probably benign	Het
Ntng2	T	C	2: 29,097,531 (GRCm39)	N310S	probably damaging	Het
Or10ak7	T	C	4: 118,791,122 (GRCm39)	M308V	probably benign	Het
Or6b3	A	G	1: 92,439,100 (GRCm39)	S217P	probably damaging	Het
Pcolce	A	G	5: 137,605,313 (GRCm39)	V260A	possibly damaging	Het
Pds5b	C	A	5: 150,679,893 (GRCm39)	T533K	possibly damaging	Het
Pecr	A	G	1: 72,301,135 (GRCm39)	Y268H	probably benign	Het
Phax	T	A	18: 56,719,956 (GRCm39)	F299Y	probably damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Pramel32	T	A	4: 88,547,448 (GRCm39)	K161N	possibly damaging	Het
Prpf39	T	A	12: 65,104,589 (GRCm39)	F551L	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ralgapa1	G	A	12: 55,764,986 (GRCm39)	P889S	probably damaging	Het
Rpap1	A	G	2: 119,610,535 (GRCm39)		probably null	Het
Rufy3	T	C	5: 88,797,757 (GRCm39)	S645P	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 84,725,625 (GRCm39)		probably benign	Het
Spata7	G	T	12: 98,624,709 (GRCm39)	A172S	probably benign	Het
Stk35	A	G	2: 129,643,435 (GRCm39)	T140A	probably damaging	Het
Thop1	T	G	10: 80,906,098 (GRCm39)	M1R	probably null	Het
Tlr1	T	C	5: 65,082,639 (GRCm39)	Y646C	probably damaging	Het
Tpp2	A	G	1: 44,040,609 (GRCm39)	Y290C	probably benign	Het
Tpr	A	G	1: 150,268,695 (GRCm39)	M1V	probably null	Het
Trim6	T	C	7: 103,877,392 (GRCm39)	F161L	probably damaging	Het
Ubash3b	T	C	9: 41,068,650 (GRCm39)	K25E	possibly damaging	Het
Unc45b	G	A	11: 82,830,963 (GRCm39)		probably null	Het
Unc80	A	G	1: 66,651,266 (GRCm39)	N1537S	possibly damaging	Het
Usb1	T	C	8: 96,069,752 (GRCm39)	F100S	probably damaging	Het
Vmn1r17	C	A	6: 57,338,244 (GRCm39)	L40F	probably damaging	Het
Vmn1r233	A	T	17: 21,214,110 (GRCm39)	M280K	probably benign	Het
Zfp37	A	T	4: 62,109,493 (GRCm39)	C524S	probably damaging	Het
Zfp426	T	C	9: 20,381,727 (GRCm39)	K420R	probably benign	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
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
R7184:Galnt4	UTSW	10	98,944,466 (GRCm39)	missense	probably damaging	1.00
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'- CACTGTGAGTGTAACACTGGTTG -3'
(R):5'- GCGCGGTATTCTGTAGGAAG -3'

Sequencing Primer
(F):5'- GTAACACTGGTTGGTTGGAAC -3'
(R):5'- TTGGGAAACACGTGGCC -3'

Posted On

2014-12-04