Incidental Mutation 'R9213:Galnt9'
ID 698988
Institutional Source Beutler Lab
Gene Symbol Galnt9
Ensembl Gene ENSMUSG00000033316
Gene Name polypeptide N-acetylgalactosaminyltransferase 9
Synonyms GalNAc-T9
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R9213 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 110692221-110769246 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 110767108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 526 (C526*)
Ref Sequence ENSEMBL: ENSMUSP00000038633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040001] [ENSMUST00000165856] [ENSMUST00000200404]
AlphaFold G3X942
Predicted Effect probably null
Transcript: ENSMUST00000040001
AA Change: C526*
SMART Domains Protein: ENSMUSP00000038633
Gene: ENSMUSG00000033316
AA Change: C526*

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 probably null
Transcript: ENSMUST00000165856
AA Change: C159*
SMART Domains Protein: ENSMUSP00000133111
Gene: ENSMUSG00000033316
AA Change: C159*

DomainStartEndE-ValueType
Blast:UBCc 58 90 1e-6 BLAST
RICIN 99 229 6.74e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200404
SMART Domains Protein: ENSMUSP00000143647
Gene: ENSMUSG00000033316

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T A 13: 104,581,440 (GRCm39) C852S probably damaging Het
Arf1 A G 11: 59,104,186 (GRCm39) V43A probably damaging Het
Arhgef26 T A 3: 62,340,000 (GRCm39) M674K probably benign Het
Asb1 A C 1: 91,482,531 (GRCm39) K314N probably damaging Het
Aste1 T C 9: 105,274,294 (GRCm39) F178S probably damaging Het
Avl9 T C 6: 56,720,441 (GRCm39) F493S probably damaging Het
BC024139 T C 15: 76,009,422 (GRCm39) Y220C probably benign Het
Ccdc60 T C 5: 116,328,185 (GRCm39) E93G probably damaging Het
Cep112 A G 11: 108,377,779 (GRCm39) H295R probably benign Het
Chd3 T C 11: 69,255,628 (GRCm39) K87E possibly damaging Het
Chordc1 G T 9: 18,223,789 (GRCm39) probably null Het
Ciita A T 16: 10,319,742 (GRCm39) D55V probably damaging Het
Cklf T C 8: 104,988,125 (GRCm39) V86A probably damaging Het
Clock T A 5: 76,393,376 (GRCm39) N189I possibly damaging Het
Dnah14 T C 1: 181,444,205 (GRCm39) probably null Het
Dpep3 C G 8: 106,700,245 (GRCm39) C487S probably benign Het
Dtwd2 A G 18: 49,856,799 (GRCm39) F163L probably benign Het
Eln C T 5: 134,735,456 (GRCm39) V776M unknown Het
Fanci T A 7: 79,055,971 (GRCm39) M201K possibly damaging Het
Frmd4a A G 2: 4,608,372 (GRCm39) T747A probably damaging Het
Garnl3 T C 2: 32,895,080 (GRCm39) E663G probably damaging Het
Gdpd5 T C 7: 99,100,945 (GRCm39) S247P probably damaging Het
Gm4846 C T 1: 166,322,142 (GRCm39) D142N probably damaging Het
Kbtbd2 T A 6: 56,756,917 (GRCm39) E273V probably damaging Het
Klk1b11 A G 7: 43,648,428 (GRCm39) E145G possibly damaging Het
Mmp1a G T 9: 7,475,364 (GRCm39) V378F possibly damaging Het
Mon2 G T 10: 122,872,016 (GRCm39) S336* probably null Het
Mrgprh T A 17: 13,095,917 (GRCm39) N52K probably damaging Het
Myo9a T C 9: 59,772,922 (GRCm39) F985L probably benign Het
Nek3 T C 8: 22,638,677 (GRCm39) N207S probably benign Het
Nkpd1 A G 7: 19,258,009 (GRCm39) D596G probably damaging Het
Oc90 C A 15: 65,761,557 (GRCm39) E154* probably null Het
Or8b101 T A 9: 38,020,426 (GRCm39) M143K possibly damaging Het
Or8b3 C A 9: 38,315,047 (GRCm39) Y292* probably null Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pkhd1l1 A G 15: 44,358,874 (GRCm39) Y361C probably damaging Het
Polr2h T C 16: 20,539,285 (GRCm39) Y90H possibly damaging Het
Potefam1 T A 2: 111,020,699 (GRCm39) R136S unknown Het
Ppp1r26 A G 2: 28,343,649 (GRCm39) N1093S probably benign Het
Prex1 G T 2: 166,417,669 (GRCm39) R1313S probably damaging Het
Ptprh A T 7: 4,583,911 (GRCm39) V227E probably damaging Het
Pycr2 A G 1: 180,733,473 (GRCm39) D58G probably benign Het
Rad54b G T 4: 11,609,321 (GRCm39) E591* probably null Het
Rptor T C 11: 119,494,765 (GRCm39) S44P probably benign Het
Safb2 T A 17: 56,882,602 (GRCm39) T344S probably benign Het
Samd9l T C 6: 3,376,856 (GRCm39) E135G probably benign Het
Sec23a A T 12: 59,048,708 (GRCm39) I167N probably damaging Het
Shoc2 C T 19: 54,016,231 (GRCm39) T415I probably benign Het
Sobp T C 10: 42,898,374 (GRCm39) I404V probably benign Het
Ssbp4 G T 8: 71,052,395 (GRCm39) L147I probably benign Het
Sspo G A 6: 48,440,869 (GRCm39) R1777H possibly damaging Het
Syt14 A G 1: 192,612,814 (GRCm39) V379A probably damaging Het
Tat T G 8: 110,722,820 (GRCm39) I294S probably damaging Het
Tcf19 A G 17: 35,825,899 (GRCm39) V86A probably damaging Het
Tfap2a T A 13: 40,870,875 (GRCm39) I338F possibly damaging Het
Tmco6 C A 18: 36,872,384 (GRCm39) N365K probably damaging Het
Tmub2 G A 11: 102,178,475 (GRCm39) R164K Het
Togaram1 A G 12: 65,065,906 (GRCm39) I1637V possibly damaging Het
Wdr49 A C 3: 75,205,419 (GRCm39) S666A probably benign Het
Ybx1 T A 4: 119,138,794 (GRCm39) Y236F possibly damaging Het
Zfhx3 T A 8: 109,676,756 (GRCm39) I2602N 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
R1855:Galnt9 UTSW 5 110,763,390 (GRCm39) missense probably damaging 1.00
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
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'- AGAAGACAGTTGTGGGCTTG -3'
(R):5'- AACTTTCTGTGCAACAGGGC -3'

Sequencing Primer
(F):5'- CTTGGGTATTGATGAAGGCCAG -3'
(R):5'- GTGGCAAAGCATATCTCTGC -3'
Posted On 2022-02-07