Incidental Mutation 'R4972:Galnt16'
ID384544
Institutional Source Beutler Lab
Gene Symbol Galnt16
Ensembl Gene ENSMUSG00000021130
Gene Namepolypeptide N-acetylgalactosaminyltransferase 16
Synonyms5730405L21Rik, Galntl1
MMRRC Submission 042567-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #R4972 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location80518277-80630972 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 80572329 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 70 (E70*)
Ref Sequence ENSEMBL: ENSMUSP00000151829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021558] [ENSMUST00000218943] [ENSMUST00000219993]
Predicted Effect probably null
Transcript: ENSMUST00000021558
AA Change: E70*
SMART Domains Protein: ENSMUSP00000021558
Gene: ENSMUSG00000021130
AA Change: E70*

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 probably null
Transcript: ENSMUST00000218943
AA Change: E70*
Predicted Effect probably null
Transcript: ENSMUST00000219993
AA Change: E70*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.2%
Validation Efficiency 93% (82/88)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,661,404 I868N possibly damaging Het
A730013G03Rik C G 1: 192,833,773 noncoding transcript Het
Actl11 A G 9: 107,929,956 T493A probably benign Het
Actn1 T C 12: 80,173,039 D686G probably benign Het
Adamts1 G A 16: 85,795,945 T525I probably damaging Het
Adcy10 T A 1: 165,556,862 L1064H probably damaging Het
AI661453 A T 17: 47,466,399 probably benign Het
Apba1 T A 19: 23,912,536 S433T probably benign Het
Arid4b T A 13: 14,160,272 N355K probably benign Het
Bsn A T 9: 108,115,178 M1125K probably damaging Het
C2cd5 A T 6: 143,013,224 M1003K probably damaging Het
Ccdc18 A G 5: 108,192,003 M805V probably benign Het
Cep89 T G 7: 35,432,552 L637R probably damaging Het
Col24a1 A T 3: 145,509,684 I1444F probably benign Het
Commd4 A T 9: 57,155,448 S175T probably benign Het
Coq7 A G 7: 118,510,117 V236A unknown Het
Dctn2 C T 10: 127,276,703 R176C probably damaging Het
Ddx31 T C 2: 28,860,770 F389L probably damaging Het
Dgkz C T 2: 91,945,702 R72H probably benign Het
Dpysl4 A G 7: 139,090,290 D24G probably damaging Het
Dydc1 A G 14: 41,082,338 T106A probably benign Het
F13b A G 1: 139,510,923 Y355C probably damaging Het
Fcrl5 A G 3: 87,454,650 M407V probably benign Het
Fzd5 C A 1: 64,736,012 V197L probably benign Het
Gm8979 T C 7: 106,083,314 noncoding transcript Het
Gpr171 A T 3: 59,097,965 F130I probably damaging Het
Grin3a T C 4: 49,770,484 N763D probably damaging Het
Gsta2 A T 9: 78,337,679 M51K probably damaging Het
Hacd3 A T 9: 64,990,436 I298N probably damaging Het
Il18r1 C T 1: 40,491,064 P317L probably benign Het
Iscu T A 5: 113,776,976 probably benign Het
Kif6 A G 17: 49,707,619 D250G probably damaging Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Lcn6 T A 2: 25,680,067 C82S probably damaging Het
Mob4 C G 1: 55,151,002 L135V possibly damaging Het
Mpzl3 T A 9: 45,062,256 probably benign Het
Mvp T C 7: 126,989,798 D599G probably damaging Het
Myo1a T C 10: 127,716,309 Y766H probably benign Het
Myo5b A G 18: 74,627,193 H260R probably damaging Het
Nbea C T 3: 56,085,246 R313H probably damaging Het
Necab1 T A 4: 14,978,216 D211V probably damaging Het
Nefl G T 14: 68,086,763 probably benign Het
Nfx1 T A 4: 40,976,375 D16E probably benign Het
Nlrp9a G T 7: 26,570,539 C797F probably damaging Het
Olfr1280 T A 2: 111,315,818 V113E probably damaging Het
Olfr467 A G 7: 107,814,746 Q56R probably benign Het
Pde6b A G 5: 108,425,264 D500G probably benign Het
Pgs1 T C 11: 118,005,893 probably null Het
Polr3b T A 10: 84,638,124 I189N probably damaging Het
Ppwd1 A T 13: 104,220,108 S300T probably benign Het
Prl2c2 A C 13: 13,002,170 N55K possibly damaging Het
Prpf19 C T 19: 10,899,345 probably benign Het
Prph2 G T 17: 46,910,807 L37F possibly damaging Het
Ptprg G T 14: 12,226,427 R565L possibly damaging Het
Rab8a C T 8: 72,171,275 T74M probably damaging Het
Rexo1 A T 10: 80,549,693 F510L probably damaging Het
Rexo2 G T 9: 48,479,389 T51K probably damaging Het
Sh3d21 T C 4: 126,152,416 K147R possibly damaging Het
Skint6 A G 4: 112,835,068 I1062T probably benign Het
Spag16 C T 1: 70,724,928 R636W probably damaging Het
Spata16 T C 3: 26,840,723 I307T possibly damaging Het
Speer4f2 T G 5: 17,374,425 I74S probably benign Het
Svep1 T A 4: 58,087,778 Y1767F possibly damaging Het
Swt1 T C 1: 151,423,542 S7G probably benign Het
Tex9 A G 9: 72,478,338 probably null Het
Thsd7b C A 1: 130,188,572 P1354H probably damaging Het
Ticrr A G 7: 79,669,668 D467G probably damaging Het
Tmco5b A C 2: 113,296,993 D303A probably damaging Het
Trpm7 A G 2: 126,824,058 V876A probably damaging Het
Ttc21a G A 9: 119,944,961 E245K probably benign Het
Vezt C T 10: 94,000,350 probably null Het
Zscan20 G A 4: 128,592,359 P183S probably benign Het
Other mutations in Galnt16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Galnt16 APN 12 80592490 splice site probably null
IGL02614:Galnt16 APN 12 80576563 missense probably damaging 0.99
PIT4504001:Galnt16 UTSW 12 80592417 nonsense probably null
R0032:Galnt16 UTSW 12 80592469 missense probably damaging 1.00
R1109:Galnt16 UTSW 12 80590631 missense probably benign
R1560:Galnt16 UTSW 12 80601792 missense possibly damaging 0.77
R1595:Galnt16 UTSW 12 80590636 missense probably damaging 0.99
R1991:Galnt16 UTSW 12 80583656 missense probably damaging 1.00
R2103:Galnt16 UTSW 12 80583656 missense probably damaging 1.00
R4866:Galnt16 UTSW 12 80584077 missense probably damaging 1.00
R5140:Galnt16 UTSW 12 80581299 missense possibly damaging 0.94
R5228:Galnt16 UTSW 12 80584048 missense probably damaging 1.00
R5414:Galnt16 UTSW 12 80584048 missense probably damaging 1.00
R5592:Galnt16 UTSW 12 80588519 missense probably damaging 1.00
R6433:Galnt16 UTSW 12 80575903 missense probably benign 0.44
R6634:Galnt16 UTSW 12 80519170 start codon destroyed probably null 0.95
R7021:Galnt16 UTSW 12 80580052 missense probably damaging 0.99
R7534:Galnt16 UTSW 12 80597135 missense probably damaging 0.99
R7567:Galnt16 UTSW 12 80581310 critical splice donor site probably null
R7681:Galnt16 UTSW 12 80590639 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAAGTACATACCTGCCCC -3'
(R):5'- GAGTGAAAGAAACCAAGCTGACC -3'

Sequencing Primer
(F):5'- CTGCCCCCAAGATAATGGATAGTTTG -3'
(R):5'- CAACACTGGTCTTTTCTTAGTTTTC -3'
Posted On2016-04-27