Incidental Mutation 'IGL01877:Galnt12'
ID178934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galnt12
Ensembl Gene ENSMUSG00000039774
Gene Namepolypeptide N-acetylgalactosaminyltransferase 12
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01877
Quality Score
Status
Chromosome4
Chromosomal Location47091909-47123070 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 47112315 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045041] [ENSMUST00000107744]
Predicted Effect probably benign
Transcript: ENSMUST00000045041
SMART Domains Protein: ENSMUSP00000045721
Gene: ENSMUSG00000039774

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
low complexity region 78 91 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 131 375 3.4e-10 PFAM
Pfam:Glycos_transf_2 134 317 1.4e-35 PFAM
Pfam:Glyco_tranf_2_2 134 360 6.6e-8 PFAM
Pfam:Glyco_transf_7C 290 363 3e-9 PFAM
RICIN 440 572 8.09e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107744
SMART Domains Protein: ENSMUSP00000103373
Gene: ENSMUSG00000039774

DomainStartEndE-ValueType
Pfam:Glyco_transf_7C 5 71 7.5e-9 PFAM
RICIN 148 280 8.09e-18 SMART
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 a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 40,795,945 E364G probably benign Het
Aknad1 C T 3: 108,775,090 P523S probably damaging Het
Alms1 T A 6: 85,622,411 N1875K possibly damaging Het
Ano4 A T 10: 89,025,070 Y179* probably null Het
Cacna1h A T 17: 25,388,050 F965I probably damaging Het
Cfh T A 1: 140,100,829 I1043F probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gpr21 A C 2: 37,518,081 N213T probably benign Het
Hexa T C 9: 59,563,880 probably benign Het
Itga6 T C 2: 71,838,280 I521T probably benign Het
Jmjd6 G T 11: 116,842,693 Q53K probably benign Het
Lrmp T C 6: 145,147,799 S94P probably damaging Het
Mylk3 T C 8: 85,359,042 T225A possibly damaging Het
Pcgf2 A G 11: 97,692,533 V79A probably damaging Het
Setd1b T C 5: 123,148,448 M519T unknown Het
Slco1c1 T C 6: 141,555,153 S454P probably damaging Het
Tubb1 C A 2: 174,456,898 S124R possibly damaging Het
Umodl1 A G 17: 30,982,320 I408V probably benign Het
Unc13b T C 4: 43,249,583 probably null Het
Vmn2r80 A G 10: 79,171,500 probably null Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Yipf4 T G 17: 74,492,388 L41R possibly damaging Het
Zfyve26 A G 12: 79,287,444 S267P probably damaging Het
Other mutations in Galnt12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02188:Galnt12 APN 4 47122521 missense probably damaging 1.00
IGL02217:Galnt12 APN 4 47113832 missense probably damaging 1.00
IGL02388:Galnt12 APN 4 47117941 missense probably damaging 1.00
IGL02550:Galnt12 APN 4 47104126 missense possibly damaging 0.47
IGL03062:Galnt12 APN 4 47122566 missense possibly damaging 0.80
R0508:Galnt12 UTSW 4 47104255 missense probably damaging 1.00
R1513:Galnt12 UTSW 4 47117956 missense probably damaging 1.00
R1634:Galnt12 UTSW 4 47108585 splice site probably null
R2072:Galnt12 UTSW 4 47108477 nonsense probably null
R2297:Galnt12 UTSW 4 47113834 missense probably damaging 1.00
R3113:Galnt12 UTSW 4 47108415 missense probably benign 0.01
R3157:Galnt12 UTSW 4 47104264 missense probably damaging 1.00
R3158:Galnt12 UTSW 4 47104264 missense probably damaging 1.00
R3159:Galnt12 UTSW 4 47104264 missense probably damaging 1.00
R3725:Galnt12 UTSW 4 47104140 missense probably damaging 1.00
R4284:Galnt12 UTSW 4 47104231 missense probably damaging 1.00
R4691:Galnt12 UTSW 4 47104143 missense probably damaging 1.00
R5134:Galnt12 UTSW 4 47113818 missense probably damaging 1.00
R5408:Galnt12 UTSW 4 47104169 missense probably damaging 1.00
R5657:Galnt12 UTSW 4 47104150 missense possibly damaging 0.95
R6074:Galnt12 UTSW 4 47112405 missense probably damaging 1.00
R6406:Galnt12 UTSW 4 47122534 missense probably benign 0.00
R6721:Galnt12 UTSW 4 47122529 nonsense probably null
R7287:Galnt12 UTSW 4 47108525 missense probably damaging 1.00
R7407:Galnt12 UTSW 4 47120362 missense probably damaging 1.00
R7512:Galnt12 UTSW 4 47108406 missense possibly damaging 0.83
X0025:Galnt12 UTSW 4 47104166 missense probably damaging 1.00
Posted On2014-05-07