Incidental Mutation 'IGL02383:B3galnt2'
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ID291469
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? Possibly essential (E-score: 0.690) question?
Stock #IGL02383
Quality Score
Status
Chromosome13
Chromosomal Location13954469-13999103 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to T at 13997033 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Cysteine at position 505 (*505C)
Ref Sequence ENSEMBL: ENSMUSP00000152397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039894] [ENSMUST00000099747] [ENSMUST00000159893] [ENSMUST00000162326] [ENSMUST00000220681] [ENSMUST00000221300] [ENSMUST00000221974] [ENSMUST00000223483]
Predicted Effect probably benign
Transcript: ENSMUST00000039894
SMART Domains Protein: ENSMUSP00000047880
Gene: ENSMUSG00000039233

DomainStartEndE-ValueType
CAP_GLY 10 76 5.23e-32 SMART
SCOP:d1fqva2 117 345 4e-20 SMART
low complexity region 347 360 N/A INTRINSIC
Pfam:Ubiquitin_2 442 523 1.1e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000099747
AA Change: *505C
SMART Domains Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
AA Change: *505C

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: ENSMUST00000159893
SMART Domains Protein: ENSMUSP00000125244
Gene: ENSMUSG00000039233

DomainStartEndE-ValueType
SCOP:d1lpla_ 9 35 3e-5 SMART
Blast:CAP_GLY 10 34 2e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160553
Predicted Effect probably benign
Transcript: ENSMUST00000162326
SMART Domains Protein: ENSMUSP00000125613
Gene: ENSMUSG00000039233

DomainStartEndE-ValueType
CAP_GLY 10 76 5.23e-32 SMART
SCOP:d1fqva2 117 345 4e-21 SMART
low complexity region 347 360 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220932
Predicted Effect probably null
Transcript: ENSMUST00000221300
AA Change: *505C
Predicted Effect probably null
Transcript: ENSMUST00000221974
AA Change: *505C
Predicted Effect probably benign
Transcript: ENSMUST00000222420
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik T C 6: 133,292,242 probably benign Het
Adap2 C A 11: 80,160,189 A115D probably damaging Het
Ankrd1 A G 19: 36,119,765 V6A probably benign Het
Apobr T A 7: 126,586,607 V430E probably benign Het
Apopt1 T A 12: 111,724,413 probably benign Het
Arhgap28 A G 17: 67,896,089 V123A probably benign Het
Atp2b2 A G 6: 113,813,942 V167A probably damaging Het
Bcat2 T A 7: 45,588,007 L305Q probably damaging Het
Col9a1 T C 1: 24,185,258 S174P unknown Het
Ddx41 A T 13: 55,532,357 D418E probably benign Het
Exoc6 T C 19: 37,578,474 F240L probably benign Het
Fbln7 G A 2: 128,895,557 V431I probably benign Het
Gfral T A 9: 76,197,092 N213Y probably damaging Het
Gm15292 A G 8: 21,250,361 D61G probably damaging Het
Golgb1 A G 16: 36,886,200 D22G probably benign Het
H2-M1 G A 17: 36,670,249 T298I unknown Het
Haus3 A T 5: 34,166,236 Y343* probably null Het
Hid1 T C 11: 115,352,620 E534G probably damaging Het
Il4ra T C 7: 125,571,504 V196A probably benign Het
Itm2b C A 14: 73,363,096 E255* probably null Het
Kidins220 A T 12: 24,997,333 probably benign Het
Klhl22 T A 16: 17,776,898 F297Y possibly damaging Het
Krt9 T C 11: 100,191,215 E253G probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Map3k6 T A 4: 133,246,621 probably null Het
Med29 C A 7: 28,387,023 R120L possibly damaging Het
Napa C T 7: 16,112,578 probably benign Het
Ncapd3 T A 9: 27,050,328 Y351N probably benign Het
Nphs1 C T 7: 30,481,635 Het
Olfr1442 A G 19: 12,674,535 D110G probably benign Het
Prss16 T C 13: 22,009,527 I33V probably benign Het
Ripk1 A G 13: 34,015,244 Y193C probably damaging Het
Rph3a C T 5: 120,963,939 R78H probably damaging Het
Rrp9 T A 9: 106,485,272 I452N probably damaging Het
Ryr2 A T 13: 11,722,721 probably benign Het
Sec23a A G 12: 59,002,027 L103P probably damaging Het
Slc17a9 A C 2: 180,735,881 D190A probably benign Het
Slc44a4 G A 17: 34,927,710 V422I probably benign Het
Smc5 C T 19: 23,214,632 probably benign Het
Tax1bp1 C T 6: 52,753,366 S611F probably benign Het
Tmem38b G A 4: 53,854,345 M192I probably benign Het
Unc45a G T 7: 80,339,662 C34* probably null Het
Usp46 T A 5: 74,029,353 M6L probably benign Het
Uspl1 G A 5: 149,213,402 V471M probably damaging Het
Vmn1r35 T A 6: 66,678,891 Q265L probably damaging Het
Vmn1r35 G T 6: 66,678,892 Q265K probably damaging Het
Vmn1r50 A G 6: 90,107,479 I69V possibly damaging Het
Vps33b A G 7: 80,285,334 probably null Het
Xntrpc A C 7: 102,093,595 D604A probably damaging Het
Yeats4 T A 10: 117,215,811 R180S 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
IGL01814:B3galnt2 APN 13 13987353 missense probably damaging 1.00
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 unclassified 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 unclassified 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
Posted On2015-04-16