Incidental Mutation 'IGL00227:B3galnt2'
ID2173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3galnt2
Ensembl Gene ENSMUSG00000039242
Gene NameUDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2
SynonymsD230016N13Rik, A930105D20Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00227
Quality Score
Status
Chromosome13
Chromosomal Location13954469-13999103 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13987431 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 246 (N246D)
Ref Sequence ENSEMBL: ENSMUSP00000152397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099747] [ENSMUST00000220681] [ENSMUST00000221300] [ENSMUST00000221974] [ENSMUST00000222110] [ENSMUST00000223483]
Predicted Effect probably benign
Transcript: ENSMUST00000099747
AA Change: N246D

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
AA Change: N246D

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Galactosyl_T 300 460 2.9e-26 PFAM
low complexity region 481 492 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220681
AA Change: N27D

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000221300
AA Change: N246D

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect unknown
Transcript: ENSMUST00000221333
AA Change: N164D
Predicted Effect probably benign
Transcript: ENSMUST00000221974
AA Change: N246D

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000222110
Predicted Effect probably benign
Transcript: ENSMUST00000223483
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 glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C A 17: 84,688,529 probably null Het
Alms1 A G 6: 85,677,964 E2695G probably damaging Het
Ces1h A T 8: 93,352,470 M495K unknown Het
Chga A G 12: 102,562,799 E345G probably damaging Het
Chrnb3 T C 8: 27,385,101 F43L probably benign Het
Ctu1 C A 7: 43,675,504 F122L possibly damaging Het
Cwf19l2 C A 9: 3,409,990 Q40K probably benign Het
Dlg2 T C 7: 91,965,645 I264T probably damaging Het
Dnah1 C T 14: 31,286,896 V1974M probably damaging Het
Foxf2 C A 13: 31,626,189 P37Q unknown Het
Gtf2e2 T C 8: 33,776,445 probably benign Het
Hectd3 C A 4: 117,000,588 probably benign Het
Hectd3 T C 4: 117,000,587 probably benign Het
Hectd3 T C 4: 117,000,589 probably benign Het
Ift122 A T 6: 115,917,057 H901L probably benign Het
Itih1 C T 14: 30,942,889 probably null Het
Krt84 C A 15: 101,527,773 M460I probably benign Het
Moxd1 C T 10: 24,282,593 H382Y probably damaging Het
Npy6r A T 18: 44,276,444 T311S probably damaging Het
Olfr59 C T 11: 74,289,126 T160I probably damaging Het
Olfr665 C T 7: 104,881,517 T270I probably benign Het
Pbk T C 14: 65,813,891 I126T probably damaging Het
Pde1b C T 15: 103,526,680 S400F probably damaging Het
Plxna2 T A 1: 194,644,657 C300S probably damaging Het
Pnpla6 C T 8: 3,523,808 R419W probably damaging Het
Ppp4r3a A G 12: 101,049,794 L33P probably damaging Het
Ralb T A 1: 119,476,040 D119V probably benign Het
Relb A C 7: 19,622,924 probably null Het
Rims1 T A 1: 22,468,242 D609V probably damaging Het
Scnn1a A G 6: 125,338,379 T377A probably benign Het
Slc13a2 T C 11: 78,400,548 T367A probably damaging Het
Sort1 T C 3: 108,356,307 L807P probably damaging Het
Sptbn1 C A 11: 30,110,818 E2051* probably null Het
St6galnac1 T C 11: 116,767,706 I311V probably damaging Het
Other mutations in B3galnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:B3galnt2 APN 13 13980685 missense probably benign 0.07
IGL01814:B3galnt2 APN 13 13987353 missense probably damaging 1.00
IGL02383:B3galnt2 APN 13 13997033 makesense probably null
R0106:B3galnt2 UTSW 13 13995793 missense probably benign
R0349:B3galnt2 UTSW 13 13991474 missense probably benign
R0676:B3galnt2 UTSW 13 13995793 missense probably benign
R1522:B3galnt2 UTSW 13 13970769 missense probably damaging 1.00
R1830:B3galnt2 UTSW 13 13991534 nonsense probably null
R2035:B3galnt2 UTSW 13 13966324 missense probably benign 0.10
R3686:B3galnt2 UTSW 13 13975635 critical splice donor site probably null
R3954:B3galnt2 UTSW 13 13966454 missense probably benign 0.04
R5369:B3galnt2 UTSW 13 13994425 splice site probably null
R5435:B3galnt2 UTSW 13 13996990 missense probably benign 0.01
R5564:B3galnt2 UTSW 13 13995229 missense probably damaging 1.00
R5628:B3galnt2 UTSW 13 13995152 splice site probably null
R6118:B3galnt2 UTSW 13 13991509 missense probably damaging 0.96
R6396:B3galnt2 UTSW 13 13995748 missense probably damaging 1.00
R6529:B3galnt2 UTSW 13 13995792 missense probably benign 0.00
R6656:B3galnt2 UTSW 13 13975576 missense probably benign 0.00
R7345:B3galnt2 UTSW 13 13980480 splice site probably null
R7439:B3galnt2 UTSW 13 13994485 missense probably benign 0.34
R7441:B3galnt2 UTSW 13 13994485 missense probably benign 0.34
R7582:B3galnt2 UTSW 13 13991401 missense probably damaging 1.00
R7849:B3galnt2 UTSW 13 13994492 missense probably benign 0.15
R8135:B3galnt2 UTSW 13 13970869 critical splice donor site probably null
Posted On2011-12-09