Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Galnt4'

345447

Institutional Source

Beutler Lab

Gene Symbol

Galnt4

Ensembl Gene

ENSMUSG00000090035

Gene Name

polypeptide N-acetylgalactosaminyltransferase 4

Synonyms

ppGaNTase-T4

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99108159-99113247 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99109493 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 360 (V360E)

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: V360E

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

SMART Domains

Protein: ENSMUSP00000125315
Gene: ENSMUSG00000090035
AA Change: V360E

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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. 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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,255,403 (GRCm38)	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,471,668 (GRCm38)	R677G	probably benign	Het
Apc	T	A	18: 34,317,987 (GRCm38)	Y2611*	probably null	Het
Apold1	A	G	6: 134,984,069 (GRCm38)	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,078,802 (GRCm38)	I325V	probably benign	Het
Cab39	A	G	1: 85,848,329 (GRCm38)	Y249C	probably damaging	Het
Cd22	T	A	7: 30,875,900 (GRCm38)	H239L	probably damaging	Het
Chrna7	A	G	7: 63,103,790 (GRCm38)	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810 (GRCm38)	M499V	probably benign	Het
Clspn	A	G	4: 126,581,460 (GRCm38)	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819 (GRCm38)	P10S	probably damaging	Het
Col5a3	A	G	9: 20,774,559 (GRCm38)		probably null	Het
Coq6	T	C	12: 84,362,139 (GRCm38)	V30A	probably benign	Het
Csmd2	G	T	4: 127,988,128 (GRCm38)	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183 (GRCm38)	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,718,047 (GRCm38)	P153S	probably benign	Het
Dock2	T	A	11: 34,239,536 (GRCm38)	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,634,548 (GRCm38)	G354C	probably damaging	Het
Dyrk1b	T	C	7: 28,182,431 (GRCm38)	L105P	probably damaging	Het
Epor	A	G	9: 21,961,859 (GRCm38)	S86P	probably benign	Het
Fam166b	T	C	4: 43,427,574 (GRCm38)	H250R	possibly damaging	Het
Gale	C	A	4: 135,967,837 (GRCm38)	S341*	probably null	Het
Gart	A	T	16: 91,622,945 (GRCm38)	C24*	probably null	Het
Gcnt2	G	T	13: 40,887,490 (GRCm38)	V42L	probably benign	Het
Herc6	A	G	6: 57,659,713 (GRCm38)	I805V	probably benign	Het
Ints12	T	A	3: 133,098,453 (GRCm38)	I67N	probably benign	Het
Irx1	C	A	13: 71,960,113 (GRCm38)	R150L	probably damaging	Het
Kif26b	A	G	1: 178,530,459 (GRCm38)	Y45C	unknown	Het
Krt35	T	C	11: 100,094,008 (GRCm38)	T275A	probably damaging	Het
Laptm5	G	T	4: 130,916,005 (GRCm38)		probably benign	Het
Lin7a	T	C	10: 107,412,166 (GRCm38)	S111P	unknown	Het
Med27	A	G	2: 29,524,458 (GRCm38)	D159G	probably damaging	Het
Msh2	A	G	17: 87,708,578 (GRCm38)	K546R	probably damaging	Het
Myo1a	A	T	10: 127,720,151 (GRCm38)		probably null	Het
Myo1c	T	C	11: 75,668,193 (GRCm38)	F604L	probably damaging	Het
Myrip	A	G	9: 120,464,784 (GRCm38)	K782E	probably damaging	Het
Ndc80	T	C	17: 71,521,068 (GRCm38)	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,455,252 (GRCm38)	D375G	probably damaging	Het
Olfr1380	T	C	11: 49,564,718 (GRCm38)	S266P	probably damaging	Het
Olfr676	A	G	7: 105,036,073 (GRCm38)	I292V	probably benign	Het
Padi3	T	C	4: 140,798,111 (GRCm38)	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,681,557 (GRCm38)	N367I	probably damaging	Het
Pdrg1	T	C	2: 153,012,390 (GRCm38)	I77V	probably benign	Het
Pfas	T	C	11: 68,991,069 (GRCm38)	E930G	probably benign	Het
Pik3cb	C	T	9: 99,061,764 (GRCm38)	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,186,382 (GRCm38)	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,994,276 (GRCm38)	V177E	probably damaging	Het
Prmt7	A	G	8: 106,250,329 (GRCm38)	S558G	possibly damaging	Het
Pspc1	A	C	14: 56,777,789 (GRCm38)		probably null	Het
Rilp	T	C	11: 75,512,760 (GRCm38)	S343P	probably benign	Het
Ror1	A	G	4: 100,407,910 (GRCm38)	M194V	probably damaging	Het
Rsu1	T	C	2: 13,170,004 (GRCm38)	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,433,926 (GRCm38)	N486S	probably damaging	Het
Sema6d	T	A	2: 124,654,231 (GRCm38)	I65N	probably damaging	Het
Slc5a11	A	G	7: 123,258,378 (GRCm38)	E230G	probably benign	Het
Spint1	T	C	2: 119,246,460 (GRCm38)	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,367,753 (GRCm38)	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,336,924 (GRCm38)	T271P	probably damaging	Het
Tie1	A	G	4: 118,472,634 (GRCm38)	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,617,332 (GRCm38)	Y375C	probably benign	Het
Tmem107	T	A	11: 69,071,448 (GRCm38)	M77K	probably damaging	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Tns3	T	C	11: 8,531,747 (GRCm38)	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,779,521 (GRCm38)	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,500,117 (GRCm38)	R79C	probably damaging	Het
Ush2a	A	G	1: 188,911,647 (GRCm38)	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,156,456 (GRCm38)	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,062,007 (GRCm38)		probably null	Het
Zp3	A	T	5: 135,984,235 (GRCm38)	K168*	probably null	Het

Other mutations in Galnt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Galnt4	APN	10	99,109,597 (GRCm38)	missense	probably damaging	1.00
IGL01725:Galnt4	APN	10	99,109,957 (GRCm38)	missense	probably damaging	1.00
IGL01871:Galnt4	APN	10	99,109,241 (GRCm38)	missense	probably damaging	1.00
IGL02146:Galnt4	APN	10	99,109,701 (GRCm38)	missense	possibly damaging	0.87
3-1:Galnt4	UTSW	10	99,109,265 (GRCm38)	missense	probably damaging	1.00
R0041:Galnt4	UTSW	10	99,108,512 (GRCm38)	missense	probably benign	0.08
R1318:Galnt4	UTSW	10	99,109,910 (GRCm38)	missense	probably damaging	0.99
R1466:Galnt4	UTSW	10	99,108,709 (GRCm38)	missense	probably benign	0.43
R1466:Galnt4	UTSW	10	99,108,709 (GRCm38)	missense	probably benign	0.43
R1471:Galnt4	UTSW	10	99,108,674 (GRCm38)	missense	probably benign
R1633:Galnt4	UTSW	10	99,109,952 (GRCm38)	missense	possibly damaging	0.88
R2088:Galnt4	UTSW	10	99,109,184 (GRCm38)	missense	probably damaging	1.00
R2197:Galnt4	UTSW	10	99,108,647 (GRCm38)	missense	probably damaging	1.00
R2363:Galnt4	UTSW	10	99,109,061 (GRCm38)	missense	probably damaging	1.00
R2507:Galnt4	UTSW	10	99,109,286 (GRCm38)	missense	possibly damaging	0.78
R3104:Galnt4	UTSW	10	99,109,381 (GRCm38)	missense	probably benign	0.10
R3106:Galnt4	UTSW	10	99,109,381 (GRCm38)	missense	probably benign	0.10
R4670:Galnt4	UTSW	10	99,109,298 (GRCm38)	missense	possibly damaging	0.60
R4756:Galnt4	UTSW	10	99,108,500 (GRCm38)	missense	probably benign
R5660:Galnt4	UTSW	10	99,109,535 (GRCm38)	missense	probably benign	0.16
R5819:Galnt4	UTSW	10	99,110,030 (GRCm38)	missense	probably damaging	1.00
R6441:Galnt4	UTSW	10	99,110,098 (GRCm38)	missense	possibly damaging	0.95
R7184:Galnt4	UTSW	10	99,108,604 (GRCm38)	missense	probably damaging	1.00
R7429:Galnt4	UTSW	10	99,109,748 (GRCm38)	missense	probably damaging	1.00
R7685:Galnt4	UTSW	10	99,109,964 (GRCm38)	missense	probably benign	0.00
R7788:Galnt4	UTSW	10	99,109,113 (GRCm38)	missense	possibly damaging	0.93
R8192:Galnt4	UTSW	10	99,109,256 (GRCm38)	missense	probably benign	0.29
R8896:Galnt4	UTSW	10	99,110,093 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCCCCAAACATGAAAGGGAC -3'
(R):5'- CGAAGCTCTTACATTTCAGCCG -3'

Sequencing Primer
(F):5'- TCAAGAATTGACCCCATCAGG -3'
(R):5'- ACATTTCAGCCGTTCCCTTAGTAAC -3'

Posted On

2015-09-25