Incidental Mutation 'R5228:Galnt16'
ID 402746
Institutional Source Beutler Lab
Gene Symbol Galnt16
Ensembl Gene ENSMUSG00000021130
Gene Name polypeptide N-acetylgalactosaminyltransferase 16
Synonyms Galntl1, 5730405L21Rik
MMRRC Submission 042801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R5228 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 80565245-80650672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80630822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 300 (D300V)
Ref Sequence ENSEMBL: ENSMUSP00000151829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021558] [ENSMUST00000218943] [ENSMUST00000219993]
AlphaFold Q9JJ61
Predicted Effect probably damaging
Transcript: ENSMUST00000021558
AA Change: D300V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021558
Gene: ENSMUSG00000021130
AA Change: D300V

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
low complexity region 29 46 N/A INTRINSIC
Pfam:Glycos_transf_2 126 308 1.2e-24 PFAM
Pfam:Glyco_tranf_2_2 126 356 1.6e-9 PFAM
Pfam:Glyco_transf_7C 277 352 2.2e-10 PFAM
Blast:RICIN 362 395 1e-10 BLAST
RICIN 432 555 1.41e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218648
Predicted Effect probably damaging
Transcript: ENSMUST00000218943
AA Change: D300V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000219993
AA Change: D300V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220065
Meta Mutation Damage Score 0.7731 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,303,545 (GRCm39) probably null Het
Agrn G T 4: 156,251,403 (GRCm39) A1864D probably damaging Het
Ahnak2 A G 12: 112,741,820 (GRCm39) S751P probably benign Het
Aifm2 T C 10: 61,568,196 (GRCm39) V201A probably damaging Het
C1rl C T 6: 124,485,427 (GRCm39) A266V probably damaging Het
Clec2h G T 6: 128,651,749 (GRCm39) A153S probably benign Het
Dnah7a T C 1: 53,476,768 (GRCm39) probably null Het
Frmpd1 T C 4: 45,284,322 (GRCm39) S1048P probably damaging Het
Gbp8 G T 5: 105,164,051 (GRCm39) Q416K probably benign Het
Gldn C T 9: 54,242,003 (GRCm39) T319I probably damaging Het
Gli2 T A 1: 118,763,936 (GRCm39) D1405V probably damaging Het
Gtsf2 A G 15: 103,353,042 (GRCm39) Y45H probably damaging Het
Hmcn1 C A 1: 150,522,452 (GRCm39) V3483F probably benign Het
Hspa12b T C 2: 130,984,884 (GRCm39) V385A possibly damaging Het
Ibtk T C 9: 85,608,742 (GRCm39) E390G possibly damaging Het
Inpp4b C G 8: 82,494,744 (GRCm39) P53R probably damaging Het
Ipo7 T A 7: 109,645,969 (GRCm39) C504S probably benign Het
Iws1 A G 18: 32,221,314 (GRCm39) D549G probably damaging Het
Kcnh4 T C 11: 100,637,722 (GRCm39) D645G probably damaging Het
Klhl40 A G 9: 121,606,867 (GRCm39) E9G probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Morc2a T C 11: 3,635,439 (GRCm39) V810A probably damaging Het
Myo1e C A 9: 70,229,640 (GRCm39) probably null Het
N4bp2 T C 5: 65,964,861 (GRCm39) V970A probably benign Het
Pira2 T A 7: 3,847,373 (GRCm39) K105N probably benign Het
Pml G A 9: 58,127,280 (GRCm39) R61C probably damaging Het
Pms2 T C 5: 143,860,415 (GRCm39) L76P probably damaging Het
Rlbp1 T G 7: 79,027,082 (GRCm39) T193P probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGG 11: 3,103,384 (GRCm39) probably benign Homo
Sh3rf2 T C 18: 42,286,246 (GRCm39) S548P possibly damaging Het
Slc4a4 A G 5: 89,304,384 (GRCm39) D609G possibly damaging Het
Slk A T 19: 47,613,771 (GRCm39) I876F probably damaging Het
Tcf20 G A 15: 82,740,156 (GRCm39) P432S probably benign Het
Tenm3 A C 8: 48,689,390 (GRCm39) S2066A probably damaging Het
Topors G C 4: 40,262,367 (GRCm39) L306V probably damaging Het
Trappc9 A T 15: 72,929,844 (GRCm39) S171T probably damaging Het
Ube2m G T 7: 12,769,697 (GRCm39) probably benign Het
Vmn1r37 T C 6: 66,709,282 (GRCm39) *266Q probably null Het
Vmn2r34 T C 7: 7,675,340 (GRCm39) T683A probably damaging Het
Other mutations in Galnt16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Galnt16 APN 12 80,639,264 (GRCm39) splice site probably null
IGL02614:Galnt16 APN 12 80,623,337 (GRCm39) missense probably damaging 0.99
PIT4504001:Galnt16 UTSW 12 80,639,191 (GRCm39) nonsense probably null
R0032:Galnt16 UTSW 12 80,639,243 (GRCm39) missense probably damaging 1.00
R1109:Galnt16 UTSW 12 80,637,405 (GRCm39) missense probably benign
R1560:Galnt16 UTSW 12 80,648,566 (GRCm39) missense possibly damaging 0.77
R1595:Galnt16 UTSW 12 80,637,410 (GRCm39) missense probably damaging 0.99
R1991:Galnt16 UTSW 12 80,630,430 (GRCm39) missense probably damaging 1.00
R2103:Galnt16 UTSW 12 80,630,430 (GRCm39) missense probably damaging 1.00
R4866:Galnt16 UTSW 12 80,630,851 (GRCm39) missense probably damaging 1.00
R4972:Galnt16 UTSW 12 80,619,103 (GRCm39) nonsense probably null
R5140:Galnt16 UTSW 12 80,628,073 (GRCm39) missense possibly damaging 0.94
R5414:Galnt16 UTSW 12 80,630,822 (GRCm39) missense probably damaging 1.00
R5592:Galnt16 UTSW 12 80,635,293 (GRCm39) missense probably damaging 1.00
R6433:Galnt16 UTSW 12 80,622,677 (GRCm39) missense probably benign 0.44
R6634:Galnt16 UTSW 12 80,565,944 (GRCm39) start codon destroyed probably null 0.95
R7021:Galnt16 UTSW 12 80,626,826 (GRCm39) missense probably damaging 0.99
R7534:Galnt16 UTSW 12 80,643,909 (GRCm39) missense probably damaging 0.99
R7567:Galnt16 UTSW 12 80,628,084 (GRCm39) critical splice donor site probably null
R7681:Galnt16 UTSW 12 80,637,413 (GRCm39) missense probably damaging 1.00
R7802:Galnt16 UTSW 12 80,628,021 (GRCm39) missense probably damaging 1.00
R7983:Galnt16 UTSW 12 80,648,598 (GRCm39) missense probably benign 0.00
R8678:Galnt16 UTSW 12 80,630,822 (GRCm39) missense probably damaging 0.98
R8750:Galnt16 UTSW 12 80,644,879 (GRCm39) missense probably benign 0.18
R8944:Galnt16 UTSW 12 80,623,314 (GRCm39) missense probably damaging 1.00
R9386:Galnt16 UTSW 12 80,644,880 (GRCm39) missense probably damaging 0.99
Z1177:Galnt16 UTSW 12 80,648,584 (GRCm39) missense probably damaging 1.00
Z1177:Galnt16 UTSW 12 80,619,121 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- CAGAGAGGACTGTGACCATG -3'
(R):5'- CATTTAGCCATTTGGTCACAGG -3'

Sequencing Primer
(F):5'- TGGGAACAGTCGTGAGGCC -3'
(R):5'- TACCTCAAAGGGCCCTTATGATG -3'
Posted On 2016-07-22