Incidental Mutation 'IGL01814:B3galnt2'
ID154338
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 #IGL01814
Quality Score
Status
Chromosome13
Chromosomal Location13954469-13999103 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13987353 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 1 (S1G)
Ref Sequence ENSEMBL: ENSMUSP00000152239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099747] [ENSMUST00000220681] [ENSMUST00000221300] [ENSMUST00000221974] [ENSMUST00000222110] [ENSMUST00000223483]
Predicted Effect probably benign
Transcript: ENSMUST00000099747
AA Change: S220G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
AA Change: S220G

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 damaging
Transcript: ENSMUST00000220681
AA Change: S1G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000221300
AA Change: S220G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect unknown
Transcript: ENSMUST00000221333
AA Change: S138G
Predicted Effect probably benign
Transcript: ENSMUST00000221974
AA Change: S220G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222110
AA Change: E122G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 T A 18: 67,405,474 N738I probably benign Het
Btbd9 T C 17: 30,299,535 I484V probably benign Het
Chd6 T C 2: 161,059,929 K8R probably benign Het
Csmd1 A C 8: 16,501,375 L279R probably damaging Het
Dmxl1 G T 18: 49,864,868 V708F probably damaging Het
Dnajc24 C T 2: 105,981,084 G49R probably benign Het
Dnhd1 T C 7: 105,652,030 M198T probably benign Het
Dtx3l T A 16: 35,931,502 D683V probably benign Het
Duox1 A G 2: 122,346,272 T1425A probably damaging Het
Enpp3 G A 10: 24,792,025 P510S possibly damaging Het
Iars2 G T 1: 185,302,775 Y590* probably null Het
Itgb7 T C 15: 102,223,417 R244G possibly damaging Het
Itpr2 T A 6: 146,232,546 R1820S probably benign Het
Matn3 T C 12: 8,952,091 V101A probably damaging Het
Neurod1 C T 2: 79,454,659 V127M probably damaging Het
Olfr1505 T A 19: 13,919,528 C169* probably null Het
Olfr683 T C 7: 105,143,604 I236V possibly damaging Het
Pde10a A G 17: 8,929,107 M1V probably null Het
Pdk4 A G 6: 5,491,828 probably null Het
Ptchd4 A T 17: 42,503,286 I693F possibly damaging Het
Scml4 C T 10: 42,935,045 R194C probably damaging Het
Slc24a4 T C 12: 102,254,618 V436A probably benign Het
Slc9a3 C A 13: 74,165,972 R800S probably damaging Het
Smchd1 C A 17: 71,378,187 M1415I probably benign Het
Syndig1 T A 2: 149,899,770 I92N probably damaging Het
Tchhl1 T C 3: 93,470,349 V120A possibly damaging Het
Thumpd3 C T 6: 113,063,151 T332I possibly damaging Het
Tmem101 G A 11: 102,153,458 T201M possibly damaging Het
Trip11 T C 12: 101,884,488 T1106A probably damaging Het
Ttc41 C T 10: 86,731,026 R519C probably damaging Het
Xirp1 T A 9: 120,017,919 M633L probably damaging Het
Zfp938 A T 10: 82,226,218 D189E probably benign Het
Other mutations in B3galnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:B3galnt2 APN 13 13987431 missense probably benign 0.15
IGL01149:B3galnt2 APN 13 13980685 missense probably benign 0.07
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 On2014-02-04