Incidental Mutation 'IGL01934:Galnt9'
ID180550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galnt9
Ensembl Gene ENSMUSG00000033316
Gene Namepolypeptide N-acetylgalactosaminyltransferase 9
SynonymsGalNAc-T9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL01934
Quality Score
Status
Chromosome5
Chromosomal Location110544355-110621380 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 110602636 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 340 (I340F)
Ref Sequence ENSEMBL: ENSMUSP00000038633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040001] [ENSMUST00000165856] [ENSMUST00000200404]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040001
AA Change: I340F

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000038633
Gene: ENSMUSG00000033316
AA Change: I340F

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 benign
Transcript: ENSMUST00000165856
SMART Domains Protein: ENSMUSP00000133111
Gene: ENSMUSG00000033316

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
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,585,655 K362E probably damaging Het
4932438H23Rik T A 16: 91,055,865 T128S probably damaging Het
Aars T A 8: 111,048,018 I593N probably damaging Het
Abca6 A T 11: 110,188,655 N1224K probably benign Het
Abcc5 A T 16: 20,422,441 probably benign Het
Adam7 A G 14: 68,532,599 L35P probably damaging Het
Ahnak T A 19: 9,002,657 L435Q probably damaging Het
Ankef1 A G 2: 136,552,531 E620G possibly damaging Het
Ap3d1 A T 10: 80,709,258 L1082* probably null Het
Atp6v0a4 T A 6: 38,051,546 I712F possibly damaging Het
Bco1 T A 8: 117,096,045 F5L possibly damaging Het
Cacna2d4 A T 6: 119,308,768 S794C probably damaging Het
Camk2d T C 3: 126,834,655 probably null Het
Capn15 T C 17: 25,963,024 T604A probably damaging Het
Cd180 A T 13: 102,702,858 D83V probably damaging Het
Ces1a C A 8: 93,032,650 R286L probably damaging Het
Col6a6 A G 9: 105,698,659 probably null Het
Crnkl1 A G 2: 145,931,282 V148A probably benign Het
Epas1 A T 17: 86,823,729 K312N probably damaging Het
Fbxw2 T C 2: 34,822,606 S148G probably damaging Het
Fig4 T C 10: 41,228,112 T791A probably benign Het
Gfap G A 11: 102,894,460 A230V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm454 T C 5: 138,207,162 noncoding transcript Het
Il24 A T 1: 130,883,877 L115Q probably damaging Het
Ipp C A 4: 116,510,655 N28K probably damaging Het
Kalrn A T 16: 34,198,512 probably null Het
Klf10 C T 15: 38,297,284 V171M probably benign Het
Man1b1 T C 2: 25,345,511 S350P probably benign Het
Mfsd4a T C 1: 132,046,311 Y343C probably damaging Het
Mrpl58 C A 11: 115,410,729 probably benign Het
Myo7b A G 18: 32,001,341 probably null Het
Nbas T C 12: 13,289,879 probably benign Het
Nisch A G 14: 31,176,739 probably benign Het
Olfr494 A G 7: 108,368,161 I224V probably damaging Het
Olfr619 T C 7: 103,603,975 F107S probably damaging Het
Olfr97 A T 17: 37,231,548 V274D probably damaging Het
Parva T A 7: 112,588,553 C352* probably null Het
Ptf1a T A 2: 19,446,620 C254S possibly damaging Het
R3hdm1 G T 1: 128,236,535 R1062L probably benign Het
Rnf44 A G 13: 54,681,950 V407A probably damaging Het
Shank3 T C 15: 89,549,846 L1598P probably damaging Het
Slit2 T C 5: 48,238,405 S717P possibly damaging Het
Svs1 A T 6: 48,988,761 I568F probably damaging Het
Tdpoz4 A G 3: 93,797,472 K359E probably damaging Het
Tmtc4 A T 14: 122,927,635 L604* probably null Het
Tnfrsf21 A T 17: 43,065,187 N488I probably benign Het
Tnfsf8 A G 4: 63,834,510 probably benign Het
Tnpo3 A T 6: 29,575,020 L382M probably benign Het
Tut1 T C 19: 8,953,991 C18R probably damaging Het
Ugt8a A G 3: 125,914,775 S229P probably benign Het
Usp22 T C 11: 61,155,288 E476G probably damaging Het
Vill G T 9: 119,066,809 A146S probably damaging Het
Vmn1r178 T C 7: 23,893,937 Y137H probably damaging Het
Wdfy1 A T 1: 79,740,116 W51R probably damaging Het
Zc3hav1 A T 6: 38,319,833 probably null Het
Zfp236 A T 18: 82,633,120 V889E probably damaging Het
Zscan20 T C 4: 128,592,484 D141G possibly damaging Het
Other mutations in Galnt9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01746:Galnt9 APN 5 110588322 missense probably damaging 1.00
IGL02394:Galnt9 APN 5 110615499 missense probably damaging 0.99
IGL02468:Galnt9 APN 5 110614223 missense possibly damaging 0.68
garnished UTSW 5 110588391 missense probably damaging 0.99
Spotless UTSW 5 110615509 missense probably damaging 1.00
varnished UTSW 5 110620599 missense probably damaging 1.00
R1494:Galnt9 UTSW 5 110588330 missense probably damaging 1.00
R1703:Galnt9 UTSW 5 110619172 missense probably damaging 1.00
R1717:Galnt9 UTSW 5 110596212 missense probably benign 0.01
R1806:Galnt9 UTSW 5 110619253 missense possibly damaging 0.77
R1855:Galnt9 UTSW 5 110615524 missense probably damaging 1.00
R4039:Galnt9 UTSW 5 110614208 missense probably damaging 1.00
R4388:Galnt9 UTSW 5 110588391 missense probably damaging 0.99
R4636:Galnt9 UTSW 5 110615499 missense probably damaging 0.99
R4693:Galnt9 UTSW 5 110615509 missense probably damaging 1.00
R4921:Galnt9 UTSW 5 110577449 missense probably damaging 0.96
R4925:Galnt9 UTSW 5 110544739 missense possibly damaging 0.54
R5040:Galnt9 UTSW 5 110617905 missense probably damaging 1.00
R5239:Galnt9 UTSW 5 110544769 missense probably damaging 1.00
R5839:Galnt9 UTSW 5 110577520 missense probably benign
R5918:Galnt9 UTSW 5 110615466 missense probably damaging 1.00
R6734:Galnt9 UTSW 5 110620599 missense probably damaging 1.00
R6775:Galnt9 UTSW 5 110620599 missense probably damaging 1.00
R6777:Galnt9 UTSW 5 110620599 missense probably damaging 1.00
R6784:Galnt9 UTSW 5 110620599 missense probably damaging 1.00
R7214:Galnt9 UTSW 5 110589828 missense probably benign
R7340:Galnt9 UTSW 5 110614188 missense probably damaging 0.99
R7522:Galnt9 UTSW 5 110595839 splice site probably null
R8110:Galnt9 UTSW 5 110615473 missense probably damaging 1.00
R8423:Galnt9 UTSW 5 110596245 missense probably benign 0.00
R8479:Galnt9 UTSW 5 110544751 missense probably benign
Z1176:Galnt9 UTSW 5 110596146 frame shift probably null
Posted On2014-05-07