Incidental Mutation 'IGL02165:Galnt5'
ID 282636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galnt5
Ensembl Gene ENSMUSG00000026828
Gene Name polypeptide N-acetylgalactosaminyltransferase 5
Synonyms ppGaNTase-T5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02165
Quality Score
Status
Chromosome 2
Chromosomal Location 57887832-57931039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57888877 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8C102
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PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences.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: 31,904,586 (GRCm39) M199K possibly damaging Het
Abo C A 2: 26,733,441 (GRCm39) V255L probably damaging Het
Alas1 A T 9: 106,115,982 (GRCm39) M344K probably damaging Het
Ap1m1 A G 8: 73,003,653 (GRCm39) I118V probably benign Het
Ap5m1 A T 14: 49,316,185 (GRCm39) I252F possibly damaging Het
Arhgef2 G A 3: 88,553,527 (GRCm39) R886H probably damaging Het
Atp13a4 T C 16: 29,252,828 (GRCm39) E706G probably damaging Het
Baz2a C A 10: 127,955,218 (GRCm39) A775E probably benign Het
C3 A T 17: 57,532,092 (GRCm39) F210I probably benign Het
Casq1 A G 1: 172,040,948 (GRCm39) L280P probably damaging Het
Cebpz A G 17: 79,229,598 (GRCm39) F919L probably damaging Het
Commd1b A T 11: 22,932,072 (GRCm39) probably benign Het
Dclre1c T A 2: 3,451,418 (GRCm39) probably benign Het
Dsc3 T G 18: 20,116,709 (GRCm39) M276L probably benign Het
Dync2i2 T C 2: 29,922,172 (GRCm39) T430A probably benign Het
Eftud2 A G 11: 102,742,573 (GRCm39) probably benign Het
Elfn2 T A 15: 78,557,618 (GRCm39) T310S probably benign Het
Ep300 A G 15: 81,525,592 (GRCm39) K1472R probably benign Het
Fbxl2 T C 9: 113,847,099 (GRCm39) D8G probably benign Het
Hars2 T A 18: 36,916,447 (GRCm39) M1K probably null Het
Hk1 T C 10: 62,117,667 (GRCm39) T619A probably damaging Het
Ifi44 C T 3: 151,455,067 (GRCm39) V53M probably damaging Het
Ippk T A 13: 49,600,011 (GRCm39) V339D possibly damaging Het
Kcnma1 G T 14: 23,387,035 (GRCm39) N875K possibly damaging Het
Kdm5a T A 6: 120,392,251 (GRCm39) V991E probably damaging Het
Larp6 A G 9: 60,620,595 (GRCm39) E36G probably benign Het
Lonp2 A T 8: 87,435,654 (GRCm39) D210V probably damaging Het
Lrrc4c G A 2: 97,459,378 (GRCm39) M1I probably null Het
Mmp2 A G 8: 93,559,847 (GRCm39) K270R probably null Het
Nexmif C T X: 103,128,360 (GRCm39) V1186I probably benign Het
Or11g2 A G 14: 50,856,468 (GRCm39) Y263C probably damaging Het
Or1x2 A T 11: 50,918,470 (GRCm39) I214F probably benign Het
Pld2 T C 11: 70,446,503 (GRCm39) L763P probably damaging Het
Pold1 A T 7: 44,187,484 (GRCm39) F644L probably damaging Het
Prrc2b T C 2: 32,104,652 (GRCm39) S1377P probably damaging Het
Rps18-ps6 T G 13: 97,896,648 (GRCm39) K150T probably benign Het
Rttn A G 18: 89,061,165 (GRCm39) D1111G probably benign Het
Slc27a5 A G 7: 12,728,875 (GRCm39) V130A probably damaging Het
Slfn8 T C 11: 82,908,022 (GRCm39) R174G probably benign Het
Slitrk6 G A 14: 110,989,249 (GRCm39) P153S probably benign Het
Sorcs3 T C 19: 48,642,511 (GRCm39) I388T probably benign Het
Star A T 8: 26,302,843 (GRCm39) T262S possibly damaging Het
Strn A T 17: 78,995,049 (GRCm39) W2R probably damaging Het
Tnmd T C X: 132,763,701 (GRCm39) S172P probably damaging Het
Togaram2 A G 17: 72,004,861 (GRCm39) K305R probably benign Het
Trhde C A 10: 114,428,066 (GRCm39) W410L probably damaging Het
Trim5 C T 7: 103,928,566 (GRCm39) R125Q probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vmn1r80 T A 7: 11,927,379 (GRCm39) M163K probably benign Het
Wnk4 C A 11: 101,166,117 (GRCm39) probably benign Het
Zfp277 T A 12: 40,365,802 (GRCm39) I430F possibly damaging Het
Zfp566 A T 7: 29,777,255 (GRCm39) C309S probably damaging Het
Zfp740 T G 15: 102,121,109 (GRCm39) F141V possibly damaging Het
Zfp87 T A 13: 67,665,989 (GRCm39) I158F probably damaging Het
Zswim3 C A 2: 164,663,035 (GRCm39) A505D possibly damaging Het
Other mutations in Galnt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Galnt5 APN 2 57,888,985 (GRCm39) missense probably benign
IGL00515:Galnt5 APN 2 57,889,080 (GRCm39) missense probably benign 0.02
IGL00950:Galnt5 APN 2 57,889,144 (GRCm39) missense probably benign 0.00
IGL00973:Galnt5 APN 2 57,888,951 (GRCm39) missense probably benign 0.02
IGL01152:Galnt5 APN 2 57,915,405 (GRCm39) missense probably benign 0.17
IGL01305:Galnt5 APN 2 57,915,354 (GRCm39) nonsense probably null
IGL01661:Galnt5 APN 2 57,889,494 (GRCm39) missense probably benign 0.03
IGL01719:Galnt5 APN 2 57,888,555 (GRCm39) missense probably damaging 1.00
IGL02795:Galnt5 APN 2 57,917,883 (GRCm39) missense probably damaging 1.00
IGL02943:Galnt5 APN 2 57,889,780 (GRCm39) missense probably damaging 1.00
IGL03218:Galnt5 APN 2 57,889,401 (GRCm39) missense possibly damaging 0.59
ANU22:Galnt5 UTSW 2 57,915,354 (GRCm39) nonsense probably null
R0082:Galnt5 UTSW 2 57,889,047 (GRCm39) missense possibly damaging 0.92
R0113:Galnt5 UTSW 2 57,888,889 (GRCm39) missense probably benign
R0445:Galnt5 UTSW 2 57,888,962 (GRCm39) missense probably benign
R0517:Galnt5 UTSW 2 57,925,385 (GRCm39) splice site probably benign
R0609:Galnt5 UTSW 2 57,914,637 (GRCm39) missense possibly damaging 0.90
R0639:Galnt5 UTSW 2 57,889,407 (GRCm39) missense probably benign 0.07
R0646:Galnt5 UTSW 2 57,889,097 (GRCm39) missense probably benign 0.00
R0677:Galnt5 UTSW 2 57,888,992 (GRCm39) nonsense probably null
R1808:Galnt5 UTSW 2 57,916,137 (GRCm39) missense probably benign 0.24
R1927:Galnt5 UTSW 2 57,888,615 (GRCm39) missense probably benign 0.00
R1980:Galnt5 UTSW 2 57,914,735 (GRCm39) critical splice donor site probably null
R2517:Galnt5 UTSW 2 57,889,425 (GRCm39) missense probably benign 0.00
R4044:Galnt5 UTSW 2 57,888,472 (GRCm39) missense probably damaging 1.00
R4154:Galnt5 UTSW 2 57,888,505 (GRCm39) missense probably damaging 1.00
R4411:Galnt5 UTSW 2 57,889,207 (GRCm39) missense probably benign 0.01
R4703:Galnt5 UTSW 2 57,888,919 (GRCm39) missense possibly damaging 0.96
R4767:Galnt5 UTSW 2 57,918,156 (GRCm39) missense possibly damaging 0.91
R5118:Galnt5 UTSW 2 57,905,015 (GRCm39) missense probably damaging 1.00
R5497:Galnt5 UTSW 2 57,915,340 (GRCm39) missense probably damaging 0.99
R5506:Galnt5 UTSW 2 57,889,637 (GRCm39) missense probably benign
R5548:Galnt5 UTSW 2 57,904,922 (GRCm39) missense probably damaging 0.99
R5758:Galnt5 UTSW 2 57,888,442 (GRCm39) missense probably benign 0.19
R5937:Galnt5 UTSW 2 57,928,949 (GRCm39) missense probably benign 0.00
R6237:Galnt5 UTSW 2 57,925,261 (GRCm39) missense probably damaging 0.96
R6805:Galnt5 UTSW 2 57,925,311 (GRCm39) missense possibly damaging 0.82
R6959:Galnt5 UTSW 2 57,889,231 (GRCm39) missense probably benign 0.39
R7070:Galnt5 UTSW 2 57,888,621 (GRCm39) missense probably benign 0.00
R7179:Galnt5 UTSW 2 57,888,621 (GRCm39) missense probably benign 0.06
R7347:Galnt5 UTSW 2 57,907,205 (GRCm39) missense probably benign 0.33
R7419:Galnt5 UTSW 2 57,904,937 (GRCm39) missense probably damaging 1.00
R7426:Galnt5 UTSW 2 57,907,151 (GRCm39) missense probably damaging 0.99
R7492:Galnt5 UTSW 2 57,916,048 (GRCm39) splice site probably null
R7539:Galnt5 UTSW 2 57,925,242 (GRCm39) missense probably damaging 0.99
R7623:Galnt5 UTSW 2 57,907,222 (GRCm39) missense probably damaging 0.99
R8135:Galnt5 UTSW 2 57,904,880 (GRCm39) missense probably damaging 1.00
R8155:Galnt5 UTSW 2 57,889,427 (GRCm39) missense probably benign 0.01
R8544:Galnt5 UTSW 2 57,907,160 (GRCm39) missense probably damaging 1.00
R9267:Galnt5 UTSW 2 57,925,220 (GRCm39) missense possibly damaging 0.58
R9747:Galnt5 UTSW 2 57,889,477 (GRCm39) missense probably benign 0.11
Posted On 2015-04-16