Incidental Mutation 'IGL02188:Galnt12'
ID283735
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 #IGL02188
Quality Score
Status
Chromosome4
Chromosomal Location47091909-47123070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 47122521 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 267 (R267W)
Ref Sequence ENSEMBL: ENSMUSP00000103373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045041] [ENSMUST00000107744]
Predicted Effect probably damaging
Transcript: ENSMUST00000045041
AA Change: R559W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045721
Gene: ENSMUSG00000039774
AA Change: R559W

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 damaging
Transcript: ENSMUST00000107744
AA Change: R267W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103373
Gene: ENSMUSG00000039774
AA Change: R267W

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 35,936,077 N56S probably benign Het
Asb18 A G 1: 89,996,299 C81R probably benign Het
Ccl25 A C 8: 4,348,552 probably benign Het
Cdh13 A G 8: 118,851,761 T176A probably benign Het
Cnrip1 A G 11: 17,078,398 probably null Het
Dnmt1 A T 9: 20,941,738 C62* probably null Het
Eepd1 T C 9: 25,581,892 F311L probably benign Het
Elmsan1 T C 12: 84,162,326 I667M probably benign Het
Extl3 A G 14: 65,075,705 L676P probably damaging Het
F13a1 A G 13: 36,906,061 probably benign Het
Gm12394 T A 4: 42,791,994 probably null Het
Gm5150 T A 3: 15,963,662 K148N possibly damaging Het
Haus8 G T 8: 71,257,415 A51E probably damaging Het
Hyal5 T C 6: 24,877,036 Y303H probably damaging Het
Itga5 C T 15: 103,347,717 R936H probably benign Het
Itgb4 A G 11: 116,003,387 N1282S probably benign Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Matn4 C T 2: 164,400,866 R104H probably benign Het
Myg1 T C 15: 102,337,441 I238T probably benign Het
Myo7a C T 7: 98,091,027 A598T probably damaging Het
Nbea T A 3: 55,983,837 I1604L probably benign Het
Nfx1 G A 4: 40,993,827 G547R probably damaging Het
Olfr1467 A T 19: 13,365,032 M135L probably benign Het
Olfr1467 A T 19: 13,365,279 Y217F probably damaging Het
Pelp1 T A 11: 70,409,892 I41F unknown Het
Pla2g2f T C 4: 138,752,207 probably benign Het
Rab19 T A 6: 39,384,034 S39T probably benign Het
Samd8 T C 14: 21,783,798 probably null Het
Sec16a T C 2: 26,436,008 D1219G probably damaging Het
Slc2a4 C T 11: 69,946,330 M1I probably null Het
Slc44a1 T C 4: 53,541,361 V273A probably benign Het
Svep1 T C 4: 58,068,382 T3135A possibly damaging Het
Tnnc1 T C 14: 31,210,660 L100P possibly damaging Het
Ubr3 C T 2: 69,959,611 R870* probably null Het
Usp28 T C 9: 49,024,009 S87P probably benign Het
Xylt1 T A 7: 117,634,737 V497E probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Galnt12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01877:Galnt12 APN 4 47112315 splice site probably benign
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
R7810:Galnt12 UTSW 4 47113786 missense probably damaging 1.00
R8823:Galnt12 UTSW 4 47091928 start gained probably benign
R8871:Galnt12 UTSW 4 47108582 critical splice donor site probably null
X0025:Galnt12 UTSW 4 47104166 missense probably damaging 1.00
Posted On2015-04-16