Incidental Mutation 'IGL02165:Galnt5'
ID282636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galnt5
Ensembl Gene ENSMUSG00000026828
Gene Namepolypeptide N-acetylgalactosaminyltransferase 5
SynonymsppGaNTase-T5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02165
Quality Score
Status
Chromosome2
Chromosomal Location57997884-58045860 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 57998865 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 159 (M159K)
Ref Sequence ENSEMBL: ENSMUSP00000131362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112616] [ENSMUST00000166729]
Predicted Effect probably benign
Transcript: ENSMUST00000112616
AA Change: M159K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: M159K

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 319 330 N/A INTRINSIC
Pfam:Glycos_transf_2 489 672 1.3e-33 PFAM
Pfam:Glyco_transf_7C 653 718 1.9e-8 PFAM
RICIN 801 925 1.36e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144671
Predicted Effect probably benign
Transcript: ENSMUST00000166729
AA Change: M159K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: M159K

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 319 330 N/A INTRINSIC
Pfam:Glycos_transf_2 489 672 2.1e-30 PFAM
Pfam:Glyco_transf_7C 652 718 7e-8 PFAM
RICIN 801 925 1.36e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]
PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,927,186 M199K possibly damaging Het
Abo C A 2: 26,843,429 V255L probably damaging Het
Alas1 A T 9: 106,238,783 M344K probably damaging Het
Ap1m1 A G 8: 72,249,809 I118V probably benign Het
Ap5m1 A T 14: 49,078,728 I252F possibly damaging Het
Arhgef2 G A 3: 88,646,220 R886H probably damaging Het
Atp13a4 T C 16: 29,434,010 E706G probably damaging Het
Baz2a C A 10: 128,119,349 A775E probably benign Het
C3 A T 17: 57,225,092 F210I probably benign Het
Casq1 A G 1: 172,213,381 L280P probably damaging Het
Cebpz A G 17: 78,922,169 F919L probably damaging Het
Dclre1c T A 2: 3,450,381 probably benign Het
Dsc3 T G 18: 19,983,652 M276L probably benign Het
Eftud2 A G 11: 102,851,747 probably benign Het
Elfn2 T A 15: 78,673,418 T310S probably benign Het
Ep300 A G 15: 81,641,391 K1472R probably benign Het
Fbxl2 T C 9: 114,018,031 D8G probably benign Het
Gm10260 T G 13: 97,760,140 K150T probably benign Het
Gm28048 A T 11: 22,982,072 probably benign Het
Hars2 T A 18: 36,783,394 M1K probably null Het
Hk1 T C 10: 62,281,888 T619A probably damaging Het
Ifi44 C T 3: 151,749,430 V53M probably damaging Het
Ippk T A 13: 49,446,535 V339D possibly damaging Het
Kcnma1 G T 14: 23,336,967 N875K possibly damaging Het
Kdm5a T A 6: 120,415,290 V991E probably damaging Het
Larp6 A G 9: 60,713,312 E36G probably benign Het
Lonp2 A T 8: 86,709,026 D210V probably damaging Het
Lrrc4c G A 2: 97,629,033 M1I probably null Het
Mmp2 A G 8: 92,833,219 K270R probably null Het
Nexmif C T X: 104,084,754 V1186I probably benign Het
Olfr54 A T 11: 51,027,643 I214F probably benign Het
Olfr744 A G 14: 50,619,011 Y263C probably damaging Het
Pld2 T C 11: 70,555,677 L763P probably damaging Het
Pold1 A T 7: 44,538,060 F644L probably damaging Het
Prrc2b T C 2: 32,214,640 S1377P probably damaging Het
Rttn A G 18: 89,043,041 D1111G probably benign Het
Slc27a5 A G 7: 12,994,948 V130A probably damaging Het
Slfn8 T C 11: 83,017,196 R174G probably benign Het
Slitrk6 G A 14: 110,751,817 P153S probably benign Het
Sorcs3 T C 19: 48,654,072 I388T probably benign Het
Star A T 8: 25,812,815 T262S possibly damaging Het
Strn A T 17: 78,687,620 W2R probably damaging Het
Tnmd T C X: 133,862,952 S172P probably damaging Het
Togaram2 A G 17: 71,697,866 K305R probably benign Het
Trhde C A 10: 114,592,161 W410L probably damaging Het
Trim5 C T 7: 104,279,359 R125Q probably damaging Het
Unc45b C T 11: 82,940,181 probably benign Het
Vmn1r80 T A 7: 12,193,452 M163K probably benign Het
Wdr34 T C 2: 30,032,160 T430A probably benign Het
Wnk4 C A 11: 101,275,291 probably benign Het
Zfp277 T A 12: 40,315,803 I430F possibly damaging Het
Zfp566 A T 7: 30,077,830 C309S probably damaging Het
Zfp740 T G 15: 102,212,674 F141V possibly damaging Het
Zfp87 T A 13: 67,517,870 I158F probably damaging Het
Zswim3 C A 2: 164,821,115 A505D possibly damaging Het
Other mutations in Galnt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Galnt5 APN 2 57998973 missense probably benign
IGL00515:Galnt5 APN 2 57999068 missense probably benign 0.02
IGL00950:Galnt5 APN 2 57999132 missense probably benign 0.00
IGL00973:Galnt5 APN 2 57998939 missense probably benign 0.02
IGL01152:Galnt5 APN 2 58025393 missense probably benign 0.17
IGL01305:Galnt5 APN 2 58025342 nonsense probably null
IGL01661:Galnt5 APN 2 57999482 missense probably benign 0.03
IGL01719:Galnt5 APN 2 57998543 missense probably damaging 1.00
IGL02795:Galnt5 APN 2 58027871 missense probably damaging 1.00
IGL02943:Galnt5 APN 2 57999768 missense probably damaging 1.00
IGL03218:Galnt5 APN 2 57999389 missense possibly damaging 0.59
ANU22:Galnt5 UTSW 2 58025342 nonsense probably null
R0082:Galnt5 UTSW 2 57999035 missense possibly damaging 0.92
R0113:Galnt5 UTSW 2 57998877 missense probably benign
R0445:Galnt5 UTSW 2 57998950 missense probably benign
R0517:Galnt5 UTSW 2 58035373 splice site probably benign
R0609:Galnt5 UTSW 2 58024625 missense possibly damaging 0.90
R0639:Galnt5 UTSW 2 57999395 missense probably benign 0.07
R0646:Galnt5 UTSW 2 57999085 missense probably benign 0.00
R0677:Galnt5 UTSW 2 57998980 nonsense probably null
R1808:Galnt5 UTSW 2 58026125 missense probably benign 0.24
R1927:Galnt5 UTSW 2 57998603 missense probably benign 0.00
R1980:Galnt5 UTSW 2 58024723 critical splice donor site probably null
R2517:Galnt5 UTSW 2 57999413 missense probably benign 0.00
R4044:Galnt5 UTSW 2 57998460 missense probably damaging 1.00
R4154:Galnt5 UTSW 2 57998493 missense probably damaging 1.00
R4411:Galnt5 UTSW 2 57999195 missense probably benign 0.01
R4703:Galnt5 UTSW 2 57998907 missense possibly damaging 0.96
R4767:Galnt5 UTSW 2 58028144 missense possibly damaging 0.91
R5118:Galnt5 UTSW 2 58015003 missense probably damaging 1.00
R5497:Galnt5 UTSW 2 58025328 missense probably damaging 0.99
R5506:Galnt5 UTSW 2 57999625 missense probably benign
R5548:Galnt5 UTSW 2 58014910 missense probably damaging 0.99
R5758:Galnt5 UTSW 2 57998430 missense probably benign 0.19
R5937:Galnt5 UTSW 2 58038937 missense probably benign 0.00
R6237:Galnt5 UTSW 2 58035249 missense probably damaging 0.96
R6805:Galnt5 UTSW 2 58035299 missense possibly damaging 0.82
R6959:Galnt5 UTSW 2 57999219 missense probably benign 0.39
R7070:Galnt5 UTSW 2 57998609 missense probably benign 0.00
R7179:Galnt5 UTSW 2 57998609 missense probably benign 0.06
Posted On2015-04-16