Incidental Mutation 'IGL01359:Galnt4'
ID75659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galnt4
Ensembl Gene ENSMUSG00000090035
Gene Namepolypeptide N-acetylgalactosaminyltransferase 4
SynonymsppGaNTase-T4
Accession Numbers

Genbank: NM_015737; MGI: 894692

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01359
Quality Score
Status
Chromosome10
Chromosomal Location99108159-99113247 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99109597 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 395 (Y395H)
Ref Sequence ENSEMBL: ENSMUSP00000125315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020113] [ENSMUST00000159228] [ENSMUST00000159990] [ENSMUST00000161240] [ENSMUST00000219884]
Predicted Effect probably benign
Transcript: ENSMUST00000020113
SMART Domains Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: Y395H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125315
Gene: ENSMUSG00000090035
AA Change: Y395H

DomainStartEndE-ValueType
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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 G A 17: 43,310,686 E605K probably damaging Het
Adgrl4 G A 3: 151,543,286 C737Y probably damaging Het
Ankk1 A T 9: 49,416,028 I617N possibly damaging Het
B3gat2 T C 1: 23,763,220 F196L probably damaging Het
Bcl2l14 T A 6: 134,423,865 I83N probably damaging Het
Bcr T C 10: 75,159,779 probably benign Het
Ckmt2 A T 13: 91,861,820 I127N probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dnah11 T C 12: 117,982,999 T3117A probably damaging Het
Dnaic2 A G 11: 114,751,788 Y405C probably benign Het
Emc2 A G 15: 43,511,749 Y214C probably damaging Het
Fbxw2 T C 2: 34,822,750 T100A probably benign Het
Fkrp C T 7: 16,811,490 R149Q probably benign Het
Fsd1l A G 4: 53,659,601 R153G possibly damaging Het
Gk5 T C 9: 96,137,789 L126P probably damaging Het
Gm973 A G 1: 59,630,279 S830G probably benign Het
Gpc5 G A 14: 115,369,750 G255S possibly damaging Het
Grk3 C A 5: 112,937,760 S370I probably damaging Het
Herc1 A G 9: 66,439,268 D1972G probably benign Het
Itih3 T A 14: 30,917,772 D364V probably damaging Het
Lce1f G T 3: 92,719,184 C55* probably null Het
Ltn1 A C 16: 87,405,693 probably benign Het
Lyl1 C T 8: 84,702,686 A8V possibly damaging Het
Mdn1 A G 4: 32,743,686 E3974G probably benign Het
Msl3l2 T C 10: 56,116,244 V355A probably damaging Het
Nadsyn1 T C 7: 143,821,230 I30V possibly damaging Het
Nuggc T C 14: 65,623,207 V418A probably damaging Het
Olfr1308 A T 2: 111,961,061 M4K probably benign Het
Olfr553 A T 7: 102,614,172 H272Q probably benign Het
Olfr671 T C 7: 104,975,986 probably null Het
Ppp4r3a T C 12: 101,058,496 E248G probably damaging Het
Rab3gap2 T A 1: 185,238,870 V234E probably damaging Het
Radil G A 5: 142,543,713 T105I probably damaging Het
Saa4 A G 7: 46,731,636 W21R possibly damaging Het
Sec62 G A 3: 30,814,306 S228N unknown Het
Setd4 C T 16: 93,591,239 G120S probably damaging Het
Sgpl1 G A 10: 61,100,908 T556I probably benign Het
Slc14a2 T C 18: 78,154,108 D811G probably benign Het
Slc26a11 A T 11: 119,363,431 M192L probably benign Het
Spon1 A T 7: 114,034,290 Q656L probably damaging Het
Tex15 A G 8: 33,581,898 D2491G probably damaging Het
Tox T C 4: 6,697,583 T407A probably damaging Het
Ubr5 A T 15: 37,973,006 I2611N probably damaging Het
Usp25 G A 16: 77,059,253 A245T probably damaging Het
Vwa8 C A 14: 79,064,913 Y1007* probably null Het
Zfp423 T C 8: 87,780,662 H893R probably damaging Het
Zfp507 A G 7: 35,794,502 I372T probably damaging Het
Other mutations in Galnt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01725:Galnt4 APN 10 99109957 missense probably damaging 1.00
IGL01871:Galnt4 APN 10 99109241 missense probably damaging 1.00
IGL02146:Galnt4 APN 10 99109701 missense possibly damaging 0.87
3-1:Galnt4 UTSW 10 99109265 missense probably damaging 1.00
R0041:Galnt4 UTSW 10 99108512 missense probably benign 0.08
R1318:Galnt4 UTSW 10 99109910 missense probably damaging 0.99
R1466:Galnt4 UTSW 10 99108709 missense probably benign 0.43
R1466:Galnt4 UTSW 10 99108709 missense probably benign 0.43
R1471:Galnt4 UTSW 10 99108674 missense probably benign
R1633:Galnt4 UTSW 10 99109952 missense possibly damaging 0.88
R2088:Galnt4 UTSW 10 99109184 missense probably damaging 1.00
R2197:Galnt4 UTSW 10 99108647 missense probably damaging 1.00
R2363:Galnt4 UTSW 10 99109061 missense probably damaging 1.00
R2507:Galnt4 UTSW 10 99109286 missense possibly damaging 0.78
R3104:Galnt4 UTSW 10 99109381 missense probably benign 0.10
R3106:Galnt4 UTSW 10 99109381 missense probably benign 0.10
R4599:Galnt4 UTSW 10 99109493 missense probably damaging 1.00
R4670:Galnt4 UTSW 10 99109298 missense possibly damaging 0.60
R4756:Galnt4 UTSW 10 99108500 missense probably benign
R5660:Galnt4 UTSW 10 99109535 missense probably benign 0.16
R5819:Galnt4 UTSW 10 99110030 missense probably damaging 1.00
R6441:Galnt4 UTSW 10 99110098 missense possibly damaging 0.95
R7184:Galnt4 UTSW 10 99108604 missense probably damaging 1.00
Posted On2013-10-07