Incidental Mutation 'R0257:Galnt10'
ID34793
Institutional Source Beutler Lab
Gene Symbol Galnt10
Ensembl Gene ENSMUSG00000020520
Gene Namepolypeptide N-acetylgalactosaminyltransferase 10
SynonymsGalnt9, C330012K04Rik, GalNAc-T10
MMRRC Submission 038488-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0257 (G1)
Quality Score185
Status Validated
Chromosome11
Chromosomal Location57645442-57787514 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57781078 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 398 (M398T)
Ref Sequence ENSEMBL: ENSMUSP00000065096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066987]
Predicted Effect probably damaging
Transcript: ENSMUST00000066987
AA Change: M398T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065096
Gene: ENSMUSG00000020520
AA Change: M398T

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
low complexity region 38 52 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 145 376 4.7e-8 PFAM
Pfam:Glycos_transf_2 148 333 1.9e-37 PFAM
Pfam:Glyco_tranf_2_2 148 373 3e-7 PFAM
Pfam:Glyco_transf_7C 303 376 2.3e-11 PFAM
RICIN 460 590 4.29e-31 SMART
Meta Mutation Damage Score 0.9459 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.2%
Validation Efficiency 99% (67/68)
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 GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a disruption in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik T A 17: 56,885,169 Y577* probably null Het
Aatf T A 11: 84,510,281 E171D probably benign Het
Adgre5 T A 8: 83,731,995 H134L possibly damaging Het
Ahsg A T 16: 22,899,040 M256L probably benign Het
Alk A T 17: 72,603,495 L72Q probably damaging Het
Ano2 C A 6: 125,880,713 A505E probably benign Het
Bcas3 A G 11: 85,822,039 K908E probably benign Het
C3ar1 A G 6: 122,850,787 V157A probably benign Het
Car2 C G 3: 14,899,977 H224D probably benign Het
Cfh T C 1: 140,144,035 D287G probably benign Het
Disp3 G T 4: 148,250,754 N944K possibly damaging Het
Dlg1 A G 16: 31,842,853 probably benign Het
Dmbt1 A G 7: 131,106,393 E1281G probably damaging Het
Dmxl1 T A 18: 49,955,803 probably benign Het
Dtx3 T C 10: 127,192,892 D159G probably benign Het
Ets2 T A 16: 95,712,201 C140* probably null Het
Fbf1 T C 11: 116,155,091 I226V probably benign Het
Fgd6 T A 10: 94,043,915 H210Q probably benign Het
Fktn A G 4: 53,734,898 T179A probably benign Het
Grk5 G T 19: 61,076,630 probably benign Het
Gse1 A G 8: 120,572,334 probably benign Het
Hmcn2 T C 2: 31,369,164 probably benign Het
Iqgap2 A G 13: 95,724,544 probably null Het
Lama4 T C 10: 39,094,884 probably benign Het
Luzp2 A G 7: 55,249,446 T271A probably benign Het
Mdn1 T A 4: 32,693,534 V1053D probably damaging Het
Mrm1 A C 11: 84,814,823 probably benign Het
Msh5 G C 17: 35,032,864 R407G probably damaging Het
Myo1c A T 11: 75,665,516 probably null Het
Nek5 T C 8: 22,123,672 probably benign Het
Nrxn2 A G 19: 6,490,698 I894V possibly damaging Het
Olfr372 C T 8: 72,058,400 T240M probably damaging Het
Pde4a C T 9: 21,192,421 P175L probably damaging Het
Pip5k1c C A 10: 81,315,096 A628E possibly damaging Het
Piwil2 C T 14: 70,422,631 S139N probably benign Het
Prob1 T C 18: 35,653,039 K721E possibly damaging Het
Rps6ka2 C A 17: 7,227,983 S57Y probably damaging Het
Rxfp1 C T 3: 79,682,535 V100M possibly damaging Het
Serpinb9e A T 13: 33,257,681 M199L probably benign Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Slc4a8 G A 15: 100,784,880 probably benign Het
Sned1 A T 1: 93,265,097 S369C possibly damaging Het
St18 T A 1: 6,819,962 F539L probably benign Het
Stam2 C T 2: 52,694,782 G500D possibly damaging Het
Stx16 G A 2: 174,096,961 V307M probably benign Het
Svep1 G A 4: 58,179,610 S211L possibly damaging Het
Tcf12 C T 9: 71,858,622 S512N probably benign Het
Tiam2 T C 17: 3,450,813 V909A possibly damaging Het
Tmem64 C T 4: 15,266,343 A131V probably damaging Het
Tnrc6b C A 15: 80,894,355 N1176K possibly damaging Het
Trrap C T 5: 144,804,235 S1264L probably benign Het
Ttn T A 2: 76,810,431 T13658S possibly damaging Het
Vmn2r104 G A 17: 20,029,627 T794I probably damaging Het
Vmn2r52 T A 7: 10,171,055 R286* probably null Het
Vps53 A T 11: 76,177,385 probably benign Het
Wdr18 A G 10: 79,961,119 probably benign Het
Wdr31 A G 4: 62,460,518 probably null Het
Zfp458 T A 13: 67,259,642 K47* probably null Het
Zfp983 A G 17: 21,661,440 T95A probably benign Het
Other mutations in Galnt10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Galnt10 APN 11 57725583 missense probably damaging 1.00
IGL02085:Galnt10 APN 11 57782278 missense probably benign
IGL02154:Galnt10 APN 11 57784705 missense probably damaging 1.00
IGL02418:Galnt10 APN 11 57781168 missense probably benign 0.00
IGL02810:Galnt10 APN 11 57725586 missense probably damaging 0.99
IGL03070:Galnt10 APN 11 57725582 missense probably damaging 1.00
IGL03191:Galnt10 APN 11 57771500 missense probably damaging 1.00
R0483:Galnt10 UTSW 11 57781222 missense probably damaging 1.00
R0681:Galnt10 UTSW 11 57769540 missense probably damaging 1.00
R1102:Galnt10 UTSW 11 57781045 splice site probably benign
R1436:Galnt10 UTSW 11 57771469 missense probably damaging 1.00
R1959:Galnt10 UTSW 11 57765617 missense probably damaging 1.00
R3424:Galnt10 UTSW 11 57645713 missense probably benign
R4445:Galnt10 UTSW 11 57783691 missense probably damaging 0.98
R5183:Galnt10 UTSW 11 57769588 missense probably damaging 1.00
R5369:Galnt10 UTSW 11 57765747 critical splice donor site probably null
R5838:Galnt10 UTSW 11 57781056 missense probably damaging 0.99
R6045:Galnt10 UTSW 11 57783793 missense probably damaging 1.00
R6148:Galnt10 UTSW 11 57784648 missense probably damaging 1.00
R6442:Galnt10 UTSW 11 57765622 missense probably benign 0.03
R6851:Galnt10 UTSW 11 57765632 missense probably damaging 1.00
R6873:Galnt10 UTSW 11 57781219 missense probably damaging 1.00
R7013:Galnt10 UTSW 11 57765584 missense probably benign 0.22
R7696:Galnt10 UTSW 11 57769538 missense probably damaging 1.00
R7950:Galnt10 UTSW 11 57783723 missense probably damaging 0.99
R8208:Galnt10 UTSW 11 57645572 missense possibly damaging 0.85
R8264:Galnt10 UTSW 11 57782206 missense probably benign 0.01
Z1088:Galnt10 UTSW 11 57721331 missense possibly damaging 0.93
Z1177:Galnt10 UTSW 11 57737000 missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- TCATGGAATCCCATCGGAACTGTTG -3'
(R):5'- GCAGGTCCCAGGCAATTTTGGTC -3'

Sequencing Primer
(F):5'- gccttgactgctcctcc -3'
(R):5'- CCCAGGCAATTTTGGTCATAAAC -3'
Posted On2013-05-09