Incidental Mutation 'R5140:Galnt16'
ID 396417
Institutional Source Beutler Lab
Gene Symbol Galnt16
Ensembl Gene ENSMUSG00000021130
Gene Name polypeptide N-acetylgalactosaminyltransferase 16
Synonyms Galntl1, 5730405L21Rik
MMRRC Submission 042726-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R5140 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 80565245-80650672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80628073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 256 (D256E)
Ref Sequence ENSEMBL: ENSMUSP00000151829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021558] [ENSMUST00000218943] [ENSMUST00000219993]
AlphaFold Q9JJ61
Predicted Effect possibly damaging
Transcript: ENSMUST00000021558
AA Change: D256E

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021558
Gene: ENSMUSG00000021130
AA Change: D256E

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 possibly damaging
Transcript: ENSMUST00000218943
AA Change: D256E

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219993
AA Change: D256E

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220065
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,752,154 (GRCm39) I405N probably damaging Het
Abhd17b T C 19: 21,661,545 (GRCm39) L244P probably damaging Het
Aebp2 T A 6: 140,579,532 (GRCm39) C34* probably null Het
Arhgap33 A G 7: 30,227,726 (GRCm39) V491A probably damaging Het
Cacul1 C T 19: 60,551,619 (GRCm39) R201Q probably benign Het
Cald1 T A 6: 34,730,515 (GRCm39) N77K probably damaging Het
Clcn6 A C 4: 148,122,774 (GRCm39) probably benign Het
Copb1 A T 7: 113,846,035 (GRCm39) H178Q probably benign Het
Dnah17 C T 11: 117,977,771 (GRCm39) V1854I probably damaging Het
Dnajc16 T G 4: 141,491,994 (GRCm39) T610P possibly damaging Het
Enpp1 T C 10: 24,528,750 (GRCm39) N624S possibly damaging Het
F2 CAGAAAG CAG 2: 91,465,302 (GRCm39) probably benign Het
Foxn1 T C 11: 78,252,459 (GRCm39) T310A probably benign Het
Gbp11 T C 5: 105,478,919 (GRCm39) D173G probably damaging Het
Glmn A G 5: 107,718,066 (GRCm39) S284P probably damaging Het
Gm3985 A G 8: 33,380,693 (GRCm39) noncoding transcript Het
Hs3st6 A T 17: 24,977,521 (GRCm39) M334L probably benign Het
Idua T A 5: 108,828,180 (GRCm39) D155E probably damaging Het
Kdm6b T C 11: 69,290,881 (GRCm39) probably benign Het
Kiss1r T C 10: 79,757,461 (GRCm39) F272L probably damaging Het
Krt35 T C 11: 99,985,343 (GRCm39) K233E probably damaging Het
Krt36 C T 11: 99,994,328 (GRCm39) V250M probably damaging Het
Lhpp T C 7: 132,307,361 (GRCm39) Y253H probably damaging Het
Npas3 T A 12: 53,547,897 (GRCm39) L51* probably null Het
Or10ac1 T C 6: 42,515,449 (GRCm39) H169R probably benign Het
Or1j18 T A 2: 36,624,510 (GRCm39) M59K possibly damaging Het
Or4a74 T C 2: 89,439,627 (GRCm39) Y273C probably damaging Het
Or4c119 T C 2: 88,987,451 (GRCm39) K23E probably benign Het
Or56b2 T C 7: 104,338,107 (GRCm39) M295T probably benign Het
Pcdhb9 T G 18: 37,534,186 (GRCm39) V60G probably benign Het
Prkce T C 17: 86,789,570 (GRCm39) V239A probably benign Het
Ralgapa1 C T 12: 55,822,937 (GRCm39) C293Y probably damaging Het
Ralgapa1 C T 12: 55,712,459 (GRCm39) R1804Q probably damaging Het
Rnf26 C A 9: 44,024,071 (GRCm39) probably null Het
Safb2 T C 17: 56,884,901 (GRCm39) D178G probably benign Het
Scn9a C T 2: 66,395,511 (GRCm39) V178M possibly damaging Het
Sergef A G 7: 46,285,026 (GRCm39) probably benign Het
Serpinb9 G A 13: 33,190,544 (GRCm39) G7R probably benign Het
Setd2 C A 9: 110,380,197 (GRCm39) D1337E probably benign Het
Shprh T A 10: 11,030,449 (GRCm39) M222K probably benign Het
Slc25a40 T C 5: 8,480,486 (GRCm39) Y79H probably damaging Het
Slc41a2 A G 10: 83,133,155 (GRCm39) M297T probably damaging Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Spcs1 A G 14: 30,722,570 (GRCm39) L83S probably benign Het
Sult1c2 T C 17: 54,276,743 (GRCm39) N106S probably benign Het
Szt2 C T 4: 118,244,178 (GRCm39) R1309Q possibly damaging Het
Ube3c T A 5: 29,840,709 (GRCm39) F695I probably damaging Het
Uimc1 A G 13: 55,223,330 (GRCm39) L314P probably damaging Het
Usp17le C T 7: 104,418,645 (GRCm39) E166K probably damaging Het
Vmn2r92 G A 17: 18,372,312 (GRCm39) D41N probably benign 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
R5228:Galnt16 UTSW 12 80,630,822 (GRCm39) missense probably damaging 1.00
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'- TGTGTGCAGTGATCTAGTCCAG -3'
(R):5'- GTGTGAAGCACTTACAACCCC -3'

Sequencing Primer
(F):5'- AGTCCAGACTAGAGTTTTCCAGG -3'
(R):5'- TTACAACCCCAGGCTCTCC -3'
Posted On 2016-06-21