Incidental Mutation 'R7696:Galnt10'
ID 593667
Institutional Source Beutler Lab
Gene Symbol Galnt10
Ensembl Gene ENSMUSG00000020520
Gene Name polypeptide N-acetylgalactosaminyltransferase 10
Synonyms C330012K04Rik, GalNAc-T10, Galnt9
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7696 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 57536268-57678327 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57660364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 267 (D267E)
Ref Sequence ENSEMBL: ENSMUSP00000065096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066987]
AlphaFold Q6P9S7
Predicted Effect probably damaging
Transcript: ENSMUST00000066987
AA Change: D267E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065096
Gene: ENSMUSG00000020520
AA Change: D267E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 C T 15: 11,258,224 (GRCm39) R512C probably damaging Het
Afap1l2 C A 19: 56,902,918 (GRCm39) V754L probably damaging Het
Atp5f1a T A 18: 77,868,686 (GRCm39) I393N probably damaging Het
Bbs1 C T 19: 4,941,017 (GRCm39) probably null Het
Bglap2 A T 3: 88,285,923 (GRCm39) L12Q unknown Het
Bsn C T 9: 107,991,700 (GRCm39) V1351I probably damaging Het
Cbx1 T C 11: 96,697,468 (GRCm39) V147A probably damaging Het
Cep192 T A 18: 67,953,434 (GRCm39) S484T probably damaging Het
Col18a1 A T 10: 76,921,106 (GRCm39) I298K unknown Het
Cyp27a1 A T 1: 74,771,198 (GRCm39) I128L probably benign Het
Dhdds C T 4: 133,724,225 (GRCm39) A30T probably damaging Het
Dnajc12 A G 10: 63,242,911 (GRCm39) N143S probably benign Het
Eno3 T G 11: 70,552,809 (GRCm39) N363K probably benign Het
Galr2 C T 11: 116,173,993 (GRCm39) R208C probably damaging Het
Hif3a G A 7: 16,788,712 (GRCm39) R82C unknown Het
Hspg2 T A 4: 137,239,277 (GRCm39) F401L possibly damaging Het
Iars1 G T 13: 49,860,214 (GRCm39) W455L probably damaging Het
Irf1 C T 11: 53,667,162 (GRCm39) H294Y probably benign Het
Itgal T C 7: 126,929,356 (GRCm39) L1091P probably damaging Het
Lrrc37a T G 11: 103,389,263 (GRCm39) D2054A probably benign Het
Map3k2 T A 18: 32,353,647 (GRCm39) H472Q probably benign Het
Myo18b T C 5: 112,840,158 (GRCm39) D2545G probably damaging Het
Nle1 G T 11: 82,795,792 (GRCm39) Y218* probably null Het
Pdlim5 A T 3: 141,983,623 (GRCm39) S377T probably benign Het
Plch1 A T 3: 63,662,726 (GRCm39) M259K probably benign Het
Pou6f1 A G 15: 100,481,979 (GRCm39) V268A probably benign Het
Prn C A 2: 131,788,365 (GRCm39) L7I unknown Het
Prpf6 C T 2: 181,250,035 (GRCm39) A65V possibly damaging Het
Rarres1 A T 3: 67,398,345 (GRCm39) F138L probably benign Het
Ros1 C T 10: 52,018,379 (GRCm39) V781M probably damaging Het
Sec16a C A 2: 26,305,645 (GRCm39) probably null Het
Slc44a4 G A 17: 35,147,676 (GRCm39) G606D probably damaging Het
Slco1a4 A T 6: 141,756,237 (GRCm39) C538* probably null Het
Slco1c1 A G 6: 141,513,336 (GRCm39) Y537C probably benign Het
Speg T A 1: 75,405,805 (GRCm39) L3003Q probably damaging Het
Ssr3 A G 3: 65,299,886 (GRCm39) S25P probably benign Het
Stard13 C A 5: 150,984,267 (GRCm39) R623L probably damaging Het
Tbc1d5 A G 17: 51,181,605 (GRCm39) I376T probably damaging Het
Tigd4 C A 3: 84,502,224 (GRCm39) F380L possibly damaging Het
Tmc4 T C 7: 3,672,574 (GRCm39) K489E probably damaging Het
Tmem114 C T 16: 8,242,353 (GRCm39) R55H probably benign Het
Tmem168 A G 6: 13,602,937 (GRCm39) I143T probably benign Het
Tmem87b C T 2: 128,683,237 (GRCm39) T397I probably damaging Het
Tom1l1 C A 11: 90,563,741 (GRCm39) R173L probably benign Het
Trim10 G A 17: 37,182,644 (GRCm39) R170K probably damaging Het
Usp6nl T A 2: 6,429,134 (GRCm39) Y222N probably damaging Het
Vmn2r26 A T 6: 124,038,494 (GRCm39) I690F possibly damaging Het
Zfp1006 A G 8: 129,945,794 (GRCm39) Y344H probably benign Het
Other mutations in Galnt10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Galnt10 APN 11 57,616,409 (GRCm39) missense probably damaging 1.00
IGL02085:Galnt10 APN 11 57,673,104 (GRCm39) missense probably benign
IGL02154:Galnt10 APN 11 57,675,531 (GRCm39) missense probably damaging 1.00
IGL02418:Galnt10 APN 11 57,671,994 (GRCm39) missense probably benign 0.00
IGL02810:Galnt10 APN 11 57,616,412 (GRCm39) missense probably damaging 0.99
IGL03070:Galnt10 APN 11 57,616,408 (GRCm39) missense probably damaging 1.00
IGL03191:Galnt10 APN 11 57,662,326 (GRCm39) missense probably damaging 1.00
R0257:Galnt10 UTSW 11 57,671,904 (GRCm39) missense probably damaging 1.00
R0483:Galnt10 UTSW 11 57,672,048 (GRCm39) missense probably damaging 1.00
R0681:Galnt10 UTSW 11 57,660,366 (GRCm39) missense probably damaging 1.00
R1102:Galnt10 UTSW 11 57,671,871 (GRCm39) splice site probably benign
R1436:Galnt10 UTSW 11 57,662,295 (GRCm39) missense probably damaging 1.00
R1959:Galnt10 UTSW 11 57,656,443 (GRCm39) missense probably damaging 1.00
R3424:Galnt10 UTSW 11 57,536,539 (GRCm39) missense probably benign
R4445:Galnt10 UTSW 11 57,674,517 (GRCm39) missense probably damaging 0.98
R5183:Galnt10 UTSW 11 57,660,414 (GRCm39) missense probably damaging 1.00
R5369:Galnt10 UTSW 11 57,656,573 (GRCm39) critical splice donor site probably null
R5838:Galnt10 UTSW 11 57,671,882 (GRCm39) missense probably damaging 0.99
R6045:Galnt10 UTSW 11 57,674,619 (GRCm39) missense probably damaging 1.00
R6148:Galnt10 UTSW 11 57,675,474 (GRCm39) missense probably damaging 1.00
R6442:Galnt10 UTSW 11 57,656,448 (GRCm39) missense probably benign 0.03
R6851:Galnt10 UTSW 11 57,656,458 (GRCm39) missense probably damaging 1.00
R6873:Galnt10 UTSW 11 57,672,045 (GRCm39) missense probably damaging 1.00
R7013:Galnt10 UTSW 11 57,656,410 (GRCm39) missense probably benign 0.22
R7950:Galnt10 UTSW 11 57,674,549 (GRCm39) missense probably damaging 0.99
R8208:Galnt10 UTSW 11 57,536,398 (GRCm39) missense possibly damaging 0.85
R8264:Galnt10 UTSW 11 57,673,032 (GRCm39) missense probably benign 0.01
R8743:Galnt10 UTSW 11 57,675,409 (GRCm39) missense probably damaging 1.00
R8924:Galnt10 UTSW 11 57,674,681 (GRCm39) intron probably benign
R9143:Galnt10 UTSW 11 57,612,146 (GRCm39) missense probably benign
R9508:Galnt10 UTSW 11 57,673,040 (GRCm39) missense possibly damaging 0.94
R9760:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
R9777:Galnt10 UTSW 11 57,672,065 (GRCm39) missense probably damaging 0.98
Z1088:Galnt10 UTSW 11 57,612,157 (GRCm39) missense possibly damaging 0.93
Z1177:Galnt10 UTSW 11 57,627,826 (GRCm39) missense probably benign 0.43
Z1186:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Z1187:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Z1188:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Z1189:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Z1190:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Z1191:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Z1192:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTGTCTAAGGAACTGCTTCC -3'
(R):5'- AAGCGAAGACTCCCAGTGTG -3'

Sequencing Primer
(F):5'- AACTGCTTCCTACAGTGCTGGAG -3'
(R):5'- TAGGTAGAGGCCCTGGTTACCAC -3'
Posted On 2019-11-12