Incidental Mutation 'R5518:Galnt17'
ID 431393
Institutional Source Beutler Lab
Gene Symbol Galnt17
Ensembl Gene ENSMUSG00000034040
Gene Name polypeptide N-acetylgalactosaminyltransferase 17
Synonyms Wbscr17, Gcap8, E330012B09Rik, Galnt19
MMRRC Submission 043077-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5518 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 130903181-131336360 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130929428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 460 (Y460H)
Ref Sequence ENSEMBL: ENSMUSP00000083187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086023]
AlphaFold Q7TT15
Predicted Effect probably damaging
Transcript: ENSMUST00000086023
AA Change: Y460H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083187
Gene: ENSMUSG00000034040
AA Change: Y460H

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Glycos_transf_2 155 341 9.6e-31 PFAM
Pfam:Glyco_tranf_2_2 155 394 7.8e-8 PFAM
RICIN 465 594 9.77e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201486
Meta Mutation Damage Score 0.1094 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.4%
  • 10x: 94.2%
  • 20x: 86.3%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C T 7: 45,769,873 (GRCm39) E881K probably benign Het
Abcf1 C T 17: 36,269,233 (GRCm39) R675K possibly damaging Het
Abl1 T A 2: 31,680,754 (GRCm39) C349S probably damaging Het
Acot11 C A 4: 106,607,207 (GRCm39) V459L probably benign Het
Ank2 A T 3: 126,753,348 (GRCm39) V311D probably damaging Het
Ankrd11 C G 8: 123,617,733 (GRCm39) E2040Q possibly damaging Het
Ankrd26 T C 6: 118,525,869 (GRCm39) I359V probably benign Het
Armc3 T G 2: 19,302,739 (GRCm39) L684V probably benign Het
Asb10 G A 5: 24,744,643 (GRCm39) P184S probably damaging Het
Atp10b T C 11: 43,042,463 (GRCm39) S8P possibly damaging Het
Blk G T 14: 63,615,956 (GRCm39) S324R possibly damaging Het
C4b G C 17: 34,953,416 (GRCm39) N1022K probably benign Het
Card6 G T 15: 5,134,696 (GRCm39) T169K probably damaging Het
Catsper2 T C 2: 121,236,844 (GRCm39) T268A possibly damaging Het
Cbx3 C T 6: 51,458,726 (GRCm39) P64S probably benign Het
Chchd6 A G 6: 89,544,567 (GRCm39) probably null Het
Cntn1 G A 15: 92,212,534 (GRCm39) E899K probably benign Het
Col6a4 A T 9: 105,949,387 (GRCm39) S749R possibly damaging Het
Cpne3 T G 4: 19,553,779 (GRCm39) N84T probably benign Het
Dcxr A C 11: 120,617,025 (GRCm39) probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Emsy T C 7: 98,242,818 (GRCm39) Q1107R possibly damaging Het
Erbb2 G T 11: 98,313,596 (GRCm39) C221F probably damaging Het
Exoc3l T C 8: 106,019,795 (GRCm39) N353D probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
G3bp2 T A 5: 92,216,347 (GRCm39) H63L probably benign Het
Gm6003 T A 7: 32,865,004 (GRCm39) noncoding transcript Het
Ighv5-12-4 A G 12: 113,726,154 (GRCm39) L23P probably damaging Het
Ins1 T C 19: 52,253,177 (GRCm39) L39P probably damaging Het
Itpr3 T G 17: 27,306,566 (GRCm39) V210G probably damaging Het
Klrb1 T A 6: 128,683,488 (GRCm39) T210S probably benign Het
Krtap24-1 A T 16: 88,408,596 (GRCm39) F177I probably damaging Het
Lrrc37 A T 11: 103,506,079 (GRCm39) I1963K probably benign Het
Mcat A G 15: 83,431,875 (GRCm39) probably null Het
Mknk2 A T 10: 80,504,475 (GRCm39) C229S possibly damaging Het
Mta2 C A 19: 8,925,456 (GRCm39) Q362K probably benign Het
Ndst4 T C 3: 125,232,105 (GRCm39) Y225H probably benign Het
Or4d11 T C 19: 12,013,429 (GRCm39) R226G probably damaging Het
Pcdha1 A G 18: 37,065,415 (GRCm39) D693G probably benign Het
Pik3r5 G A 11: 68,368,294 (GRCm39) D100N possibly damaging Het
Pld3 T C 7: 27,231,796 (GRCm39) D465G probably damaging Het
Prkdc T C 16: 15,496,172 (GRCm39) Y788H probably damaging Het
Ptprt T A 2: 162,120,143 (GRCm39) D108V probably damaging Het
Rasgrp3 T A 17: 75,823,354 (GRCm39) M475K probably benign Het
Rbak A G 5: 143,159,064 (GRCm39) L663P probably damaging Het
Rnf17 A G 14: 56,719,590 (GRCm39) N947D probably damaging Het
Ryr2 T C 13: 11,702,795 (GRCm39) S2898G probably benign Het
Serpina1e A C 12: 103,917,087 (GRCm39) L194R probably damaging Het
Smg6 T C 11: 74,944,724 (GRCm39) S158P probably damaging Het
Smtnl2 A T 11: 72,292,342 (GRCm39) V269E possibly damaging Het
Snx14 G T 9: 88,265,855 (GRCm39) P760Q probably damaging Het
Sorl1 T C 9: 41,948,508 (GRCm39) E759G possibly damaging Het
Sspo C T 6: 48,473,588 (GRCm39) T4906M possibly damaging Het
Syne2 T A 12: 75,991,944 (GRCm39) F1970I possibly damaging Het
Tekt3 C A 11: 62,974,768 (GRCm39) H362Q probably benign Het
Tmem121 T C 12: 113,152,547 (GRCm39) V255A possibly damaging Het
Tmem201 T C 4: 149,802,534 (GRCm39) T614A probably benign Het
Tnc T C 4: 63,935,916 (GRCm39) D340G probably damaging Het
Ttc28 A T 5: 111,373,794 (GRCm39) T1046S probably benign Het
Ubxn2a T C 12: 4,952,238 (GRCm39) D8G probably benign Het
Vwde T C 6: 13,186,937 (GRCm39) N850S probably benign Het
Zfp280d A G 9: 72,231,417 (GRCm39) H451R probably damaging Het
Zfp462 T C 4: 55,009,818 (GRCm39) C595R probably damaging Het
Zfp768 A G 7: 126,943,583 (GRCm39) S182P probably benign Het
Other mutations in Galnt17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01690:Galnt17 APN 5 131,114,734 (GRCm39) critical splice donor site probably null
IGL02312:Galnt17 APN 5 131,335,371 (GRCm39) missense probably benign 0.09
IGL02744:Galnt17 APN 5 131,140,613 (GRCm39) missense probably damaging 0.99
IGL03066:Galnt17 APN 5 130,929,486 (GRCm39) missense probably benign
R0744:Galnt17 UTSW 5 131,179,754 (GRCm39) missense probably damaging 1.00
R1186:Galnt17 UTSW 5 131,140,580 (GRCm39) missense probably damaging 0.98
R1784:Galnt17 UTSW 5 131,179,801 (GRCm39) missense probably benign 0.35
R1909:Galnt17 UTSW 5 131,140,676 (GRCm39) missense probably benign 0.03
R1969:Galnt17 UTSW 5 131,179,782 (GRCm39) missense probably benign 0.19
R2102:Galnt17 UTSW 5 131,114,831 (GRCm39) missense probably damaging 1.00
R2158:Galnt17 UTSW 5 130,935,540 (GRCm39) missense probably damaging 1.00
R2307:Galnt17 UTSW 5 130,929,460 (GRCm39) missense probably damaging 1.00
R2680:Galnt17 UTSW 5 131,140,661 (GRCm39) missense probably damaging 0.97
R4549:Galnt17 UTSW 5 131,179,775 (GRCm39) missense probably damaging 1.00
R4938:Galnt17 UTSW 5 131,335,237 (GRCm39) missense probably benign
R5030:Galnt17 UTSW 5 130,905,351 (GRCm39) missense probably damaging 0.98
R5134:Galnt17 UTSW 5 130,992,873 (GRCm39) missense probably damaging 1.00
R5499:Galnt17 UTSW 5 130,929,466 (GRCm39) missense probably benign 0.28
R5662:Galnt17 UTSW 5 131,114,844 (GRCm39) missense probably damaging 1.00
R5806:Galnt17 UTSW 5 130,906,657 (GRCm39) missense probably damaging 1.00
R6209:Galnt17 UTSW 5 131,110,434 (GRCm39) missense probably benign 0.01
R6751:Galnt17 UTSW 5 131,110,428 (GRCm39) missense probably damaging 0.99
R7205:Galnt17 UTSW 5 131,335,590 (GRCm39) start gained probably benign
R7212:Galnt17 UTSW 5 130,992,949 (GRCm39) missense possibly damaging 0.69
R7529:Galnt17 UTSW 5 131,335,218 (GRCm39) missense probably damaging 0.99
R8881:Galnt17 UTSW 5 130,906,635 (GRCm39) missense probably benign 0.05
R8976:Galnt17 UTSW 5 130,935,543 (GRCm39) missense probably benign 0.01
R9480:Galnt17 UTSW 5 130,935,576 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGTTATGACTTGGGCAGATAAC -3'
(R):5'- CTCAAAGCATTCCAGGCTCC -3'

Sequencing Primer
(F):5'- TTATGACTTGGGCAGATAACAAAGCC -3'
(R):5'- TAGATGCCCTTCCTAAAAGTGACTC -3'
Posted On 2016-10-05