Incidental Mutation 'R1855:Galnt9'
ID 206017
Institutional Source Beutler Lab
Gene Symbol Galnt9
Ensembl Gene ENSMUSG00000033316
Gene Name polypeptide N-acetylgalactosaminyltransferase 9
Synonyms GalNAc-T9
MMRRC Submission 039879-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1855 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110692221-110769246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 110763390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 465 (T465M)
Ref Sequence ENSEMBL: ENSMUSP00000038633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040001] [ENSMUST00000165856] [ENSMUST00000200404]
AlphaFold G3X942
Predicted Effect probably damaging
Transcript: ENSMUST00000040001
AA Change: T465M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038633
Gene: ENSMUSG00000033316
AA Change: T465M

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
low complexity region 87 100 N/A INTRINSIC
Pfam:Glycos_transf_2 155 341 4.3e-26 PFAM
Blast:UBCc 425 457 3e-6 BLAST
RICIN 466 596 6.74e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000165856
AA Change: T98M

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133111
Gene: ENSMUSG00000033316
AA Change: T98M

DomainStartEndE-ValueType
Blast:UBCc 58 90 1e-6 BLAST
RICIN 99 229 6.74e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000200404
AA Change: T98M

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143647
Gene: ENSMUSG00000033316
AA Change: T98M

DomainStartEndE-ValueType
PDB:1XHB|A 1 132 7e-27 PDB
Blast:UBCc 58 90 2e-7 BLAST
SCOP:d1abrb1 92 133 8e-5 SMART
Blast:RICIN 99 136 1e-18 BLAST
Meta Mutation Damage Score 0.2177 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 97% (72/74)
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 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,818,195 (GRCm39) L285Q probably damaging Het
Acaca T C 11: 84,262,380 (GRCm39) L1994P probably damaging Het
Adamts9 A G 6: 92,878,350 (GRCm39) probably benign Het
Aff3 T C 1: 38,249,385 (GRCm39) E574G probably benign Het
Ankrd1 T C 19: 36,096,635 (GRCm39) K64R probably damaging Het
Arhgap23 T C 11: 97,339,523 (GRCm39) I163T probably damaging Het
Ascc3 A T 10: 50,494,018 (GRCm39) Q151L probably benign Het
Atad2 G A 15: 57,960,685 (GRCm39) P971L possibly damaging Het
C1s1 A C 6: 124,511,315 (GRCm39) probably null Het
Ccdc150 T C 1: 54,407,069 (GRCm39) probably benign Het
Cdhr3 A T 12: 33,110,351 (GRCm39) I311N probably damaging Het
Chad T A 11: 94,456,303 (GRCm39) L127H probably damaging Het
Clasp1 G A 1: 118,436,624 (GRCm39) A303T probably damaging Het
Clptm1 A G 7: 19,372,134 (GRCm39) V234A probably benign Het
Cnih3 C A 1: 181,282,186 (GRCm39) S140* probably null Het
Col24a1 G A 3: 145,164,895 (GRCm39) G1033D probably damaging Het
Csnk1a1 T A 18: 61,708,498 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,378,412 (GRCm39) I1475L probably benign Het
Dnah5 T C 15: 28,411,815 (GRCm39) V3728A possibly damaging Het
Dock9 C A 14: 121,877,571 (GRCm39) V391F probably damaging Het
Ehmt2 A T 17: 35,129,752 (GRCm39) I949F probably damaging Het
Eif4g1 C A 16: 20,505,911 (GRCm39) T1025K possibly damaging Het
Enpp2 C T 15: 54,709,219 (GRCm39) E803K probably damaging Het
Esrrg A T 1: 187,943,295 (GRCm39) M423L probably damaging Het
Etnppl A T 3: 130,414,371 (GRCm39) I89F probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbln7 A G 2: 128,735,755 (GRCm39) T248A possibly damaging Het
Grcc10 A G 6: 124,717,541 (GRCm39) V57A probably benign Het
Herc1 T A 9: 66,298,708 (GRCm39) M614K possibly damaging Het
Itch C T 2: 155,014,374 (GRCm39) probably benign Het
Kdm6b C A 11: 69,298,112 (GRCm39) A167S probably damaging Het
Kidins220 C T 12: 25,106,590 (GRCm39) R1348C probably damaging Het
Kif17 T C 4: 138,015,582 (GRCm39) L577P probably benign Het
Krt25 A T 11: 99,209,141 (GRCm39) L258Q probably damaging Het
Marchf10 T C 11: 105,281,218 (GRCm39) T356A probably benign Het
Mical2 G A 7: 111,944,489 (GRCm39) A940T probably benign Het
Mrpl4 A G 9: 20,914,667 (GRCm39) E81G possibly damaging Het
Mtcl1 A G 17: 66,686,509 (GRCm39) V447A probably benign Het
Mtor C A 4: 148,637,546 (GRCm39) N2502K probably benign Het
Notch4 G A 17: 34,799,936 (GRCm39) D966N probably benign Het
Oip5 C A 2: 119,442,271 (GRCm39) K214N probably benign Het
Or8a1b A T 9: 37,623,266 (GRCm39) F103Y possibly damaging Het
Pabir2 T A X: 52,342,933 (GRCm39) Q201H probably benign Het
Pak5 A T 2: 135,929,429 (GRCm39) S585T probably benign Het
Pard3 T A 8: 128,174,293 (GRCm39) probably null Het
Pcnx2 A T 8: 126,534,735 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,492,556 (GRCm39) Y939C possibly damaging Het
Pde1a A G 2: 79,728,408 (GRCm39) probably null Het
Pde9a C T 17: 31,674,094 (GRCm39) P60S probably damaging Het
Pikfyve C A 1: 65,297,957 (GRCm39) T1562K probably benign Het
Plekhg6 A T 6: 125,352,802 (GRCm39) M115K probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ppp1r3a A T 6: 14,754,993 (GRCm39) W85R probably damaging Het
Rnf123 C A 9: 107,938,990 (GRCm39) R826L probably damaging Het
Slc1a6 T A 10: 78,648,758 (GRCm39) V493E probably damaging Het
Slc22a2 A G 17: 12,805,699 (GRCm39) D150G probably damaging Het
Snap47 C T 11: 59,319,159 (GRCm39) probably benign Het
Spata22 A G 11: 73,231,385 (GRCm39) D213G probably benign Het
St6galnac2 T A 11: 116,581,141 (GRCm39) R60S probably benign Het
Stk32c A G 7: 138,701,363 (GRCm39) F263S probably damaging Het
Supt6 T C 11: 78,123,366 (GRCm39) I104V possibly damaging Het
Tex2 T C 11: 106,437,702 (GRCm39) E158G possibly damaging Het
Tiam2 C T 17: 3,465,410 (GRCm39) R380C probably damaging Het
Trim25 C T 11: 88,906,407 (GRCm39) T410I probably benign Het
Usp18 T A 6: 121,239,076 (GRCm39) C212S probably benign Het
Vmn1r2 A G 4: 3,172,588 (GRCm39) Y169C probably damaging Het
Wdr33 A T 18: 32,039,909 (GRCm39) probably benign Het
Xpr1 A G 1: 155,159,002 (GRCm39) Y597H probably benign Het
Yy1 CGGG CGGGGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zfp54 T A 17: 21,654,404 (GRCm39) Y299* probably null Het
Zfp566 T G 7: 29,777,927 (GRCm39) S85R probably benign Het
Other mutations in Galnt9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01746:Galnt9 APN 5 110,736,188 (GRCm39) missense probably damaging 1.00
IGL01934:Galnt9 APN 5 110,750,502 (GRCm39) missense possibly damaging 0.56
IGL02394:Galnt9 APN 5 110,763,365 (GRCm39) missense probably damaging 0.99
IGL02468:Galnt9 APN 5 110,762,089 (GRCm39) missense possibly damaging 0.68
garnished UTSW 5 110,736,257 (GRCm39) missense probably damaging 0.99
Spotless UTSW 5 110,763,375 (GRCm39) missense probably damaging 1.00
varnished UTSW 5 110,768,465 (GRCm39) missense probably damaging 1.00
R1494:Galnt9 UTSW 5 110,736,196 (GRCm39) missense probably damaging 1.00
R1703:Galnt9 UTSW 5 110,767,038 (GRCm39) missense probably damaging 1.00
R1717:Galnt9 UTSW 5 110,744,078 (GRCm39) missense probably benign 0.01
R1806:Galnt9 UTSW 5 110,767,119 (GRCm39) missense possibly damaging 0.77
R4039:Galnt9 UTSW 5 110,762,074 (GRCm39) missense probably damaging 1.00
R4388:Galnt9 UTSW 5 110,736,257 (GRCm39) missense probably damaging 0.99
R4636:Galnt9 UTSW 5 110,763,365 (GRCm39) missense probably damaging 0.99
R4693:Galnt9 UTSW 5 110,763,375 (GRCm39) missense probably damaging 1.00
R4921:Galnt9 UTSW 5 110,725,315 (GRCm39) missense probably damaging 0.96
R4925:Galnt9 UTSW 5 110,692,605 (GRCm39) missense possibly damaging 0.54
R5040:Galnt9 UTSW 5 110,765,771 (GRCm39) missense probably damaging 1.00
R5239:Galnt9 UTSW 5 110,692,635 (GRCm39) missense probably damaging 1.00
R5839:Galnt9 UTSW 5 110,725,386 (GRCm39) missense probably benign
R5918:Galnt9 UTSW 5 110,763,332 (GRCm39) missense probably damaging 1.00
R6734:Galnt9 UTSW 5 110,768,465 (GRCm39) missense probably damaging 1.00
R6775:Galnt9 UTSW 5 110,768,465 (GRCm39) missense probably damaging 1.00
R6777:Galnt9 UTSW 5 110,768,465 (GRCm39) missense probably damaging 1.00
R6784:Galnt9 UTSW 5 110,768,465 (GRCm39) missense probably damaging 1.00
R7214:Galnt9 UTSW 5 110,737,694 (GRCm39) missense probably benign
R7340:Galnt9 UTSW 5 110,762,054 (GRCm39) missense probably damaging 0.99
R7522:Galnt9 UTSW 5 110,743,705 (GRCm39) splice site probably null
R8110:Galnt9 UTSW 5 110,763,339 (GRCm39) missense probably damaging 1.00
R8423:Galnt9 UTSW 5 110,744,111 (GRCm39) missense probably benign 0.00
R8479:Galnt9 UTSW 5 110,692,617 (GRCm39) missense probably benign
R9007:Galnt9 UTSW 5 110,692,665 (GRCm39) missense probably benign 0.00
R9060:Galnt9 UTSW 5 110,737,710 (GRCm39) missense possibly damaging 0.88
R9213:Galnt9 UTSW 5 110,767,108 (GRCm39) nonsense probably null
R9614:Galnt9 UTSW 5 110,744,047 (GRCm39) missense probably damaging 1.00
R9655:Galnt9 UTSW 5 110,762,104 (GRCm39) missense probably damaging 1.00
Z1176:Galnt9 UTSW 5 110,744,012 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ATGGATCTGCAACACTTACCC -3'
(R):5'- ACACCGTCCTATGTATTTGGG -3'

Sequencing Primer
(F):5'- GCAACACTTACCCTGTCCTG -3'
(R):5'- AGTTTGATACCAGCATGGCC -3'
Posted On 2014-06-23