Incidental Mutation 'IGL02383:B3galnt2'
ID 291469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3galnt2
Ensembl Gene ENSMUSG00000039242
Gene Name UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2
Synonyms D230016N13Rik, A930105D20Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02383
Quality Score
Status
Chromosome 13
Chromosomal Location 14129059-14173688 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to T at 14171618 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000221300] [ENSMUST00000221974] [ENSMUST00000223483] [ENSMUST00000220681]
AlphaFold Q8BG28
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 null
Transcript: ENSMUST00000221300
AA Change: *505C
Predicted Effect probably null
Transcript: ENSMUST00000221974
AA Change: *505C
Predicted Effect probably benign
Transcript: ENSMUST00000223483
Predicted Effect probably benign
Transcript: ENSMUST00000222420
Predicted Effect probably benign
Transcript: ENSMUST00000220681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220932
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: 133,269,205 (GRCm39) probably benign Het
Adap2 C A 11: 80,051,015 (GRCm39) A115D probably damaging Het
Ankrd1 A G 19: 36,097,165 (GRCm39) V6A probably benign Het
Apobr T A 7: 126,185,779 (GRCm39) V430E probably benign Het
Arhgap28 A G 17: 68,203,084 (GRCm39) V123A probably benign Het
Atp2b2 A G 6: 113,790,903 (GRCm39) V167A probably damaging Het
Bcat2 T A 7: 45,237,431 (GRCm39) L305Q probably damaging Het
Coa8 T A 12: 111,690,847 (GRCm39) probably benign Het
Col9a1 T C 1: 24,224,339 (GRCm39) S174P unknown Het
Ddx41 A T 13: 55,680,170 (GRCm39) D418E probably benign Het
Defa40 A G 8: 21,740,377 (GRCm39) D61G probably damaging Het
Exoc6 T C 19: 37,566,922 (GRCm39) F240L probably benign Het
Fbln7 G A 2: 128,737,477 (GRCm39) V431I probably benign Het
Gfral T A 9: 76,104,374 (GRCm39) N213Y probably damaging Het
Golgb1 A G 16: 36,706,562 (GRCm39) D22G probably benign Het
H2-M1 G A 17: 36,981,141 (GRCm39) T298I unknown Het
Haus3 A T 5: 34,323,580 (GRCm39) Y343* probably null Het
Hid1 T C 11: 115,243,446 (GRCm39) E534G probably damaging Het
Il4ra T C 7: 125,170,676 (GRCm39) V196A probably benign Het
Itm2b C A 14: 73,600,536 (GRCm39) E255* probably null Het
Kidins220 A T 12: 25,047,332 (GRCm39) probably benign Het
Klhl22 T A 16: 17,594,762 (GRCm39) F297Y possibly damaging Het
Krt9 T C 11: 100,082,041 (GRCm39) E253G probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Map3k6 T A 4: 132,973,932 (GRCm39) probably null Het
Med29 C A 7: 28,086,448 (GRCm39) R120L possibly damaging Het
Napa C T 7: 15,846,503 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,961,624 (GRCm39) Y351N probably benign Het
Nphs1 C T 7: 30,181,060 (GRCm39) probably benign Het
Or5b94 A G 19: 12,651,899 (GRCm39) D110G probably benign Het
Prss16 T C 13: 22,193,697 (GRCm39) I33V probably benign Het
Ripk1 A G 13: 34,199,227 (GRCm39) Y193C probably damaging Het
Rph3a C T 5: 121,102,002 (GRCm39) R78H probably damaging Het
Rrp9 T A 9: 106,362,471 (GRCm39) I452N probably damaging Het
Ryr2 A T 13: 11,737,607 (GRCm39) probably benign Het
Sec23a A G 12: 59,048,813 (GRCm39) L103P probably damaging Het
Slc17a9 A C 2: 180,377,674 (GRCm39) D190A probably benign Het
Slc44a4 G A 17: 35,146,686 (GRCm39) V422I probably benign Het
Smc5 C T 19: 23,191,996 (GRCm39) probably benign Het
Tax1bp1 C T 6: 52,730,351 (GRCm39) S611F probably benign Het
Tmem38b G A 4: 53,854,345 (GRCm39) M192I probably benign Het
Unc45a G T 7: 79,989,410 (GRCm39) C34* probably null Het
Usp46 T A 5: 74,190,014 (GRCm39) M6L probably benign Het
Uspl1 G A 5: 149,150,212 (GRCm39) V471M probably damaging Het
Vmn1r35 T A 6: 66,655,875 (GRCm39) Q265L probably damaging Het
Vmn1r35 G T 6: 66,655,876 (GRCm39) Q265K probably damaging Het
Vmn1r50 A G 6: 90,084,461 (GRCm39) I69V possibly damaging Het
Vps33b A G 7: 79,935,082 (GRCm39) probably null Het
Xntrpc A C 7: 101,742,802 (GRCm39) D604A probably damaging Het
Yeats4 T A 10: 117,051,716 (GRCm39) R180S probably benign Het
Other mutations in B3galnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:B3galnt2 APN 13 14,162,016 (GRCm39) missense probably benign 0.15
IGL01149:B3galnt2 APN 13 14,155,270 (GRCm39) missense probably benign 0.07
IGL01814:B3galnt2 APN 13 14,161,938 (GRCm39) missense probably damaging 1.00
R0106:B3galnt2 UTSW 13 14,170,378 (GRCm39) missense probably benign
R0349:B3galnt2 UTSW 13 14,166,059 (GRCm39) missense probably benign
R0676:B3galnt2 UTSW 13 14,170,378 (GRCm39) missense probably benign
R1522:B3galnt2 UTSW 13 14,145,354 (GRCm39) missense probably damaging 1.00
R1830:B3galnt2 UTSW 13 14,166,119 (GRCm39) nonsense probably null
R2035:B3galnt2 UTSW 13 14,140,909 (GRCm39) missense probably benign 0.10
R3686:B3galnt2 UTSW 13 14,150,220 (GRCm39) critical splice donor site probably null
R3954:B3galnt2 UTSW 13 14,141,039 (GRCm39) missense probably benign 0.04
R5369:B3galnt2 UTSW 13 14,169,010 (GRCm39) splice site probably null
R5435:B3galnt2 UTSW 13 14,171,575 (GRCm39) missense probably benign 0.01
R5564:B3galnt2 UTSW 13 14,169,814 (GRCm39) missense probably damaging 1.00
R5628:B3galnt2 UTSW 13 14,169,737 (GRCm39) splice site probably null
R6118:B3galnt2 UTSW 13 14,166,094 (GRCm39) missense probably damaging 0.96
R6396:B3galnt2 UTSW 13 14,170,333 (GRCm39) missense probably damaging 1.00
R6529:B3galnt2 UTSW 13 14,170,377 (GRCm39) missense probably benign 0.00
R6656:B3galnt2 UTSW 13 14,150,161 (GRCm39) missense probably benign 0.00
R7345:B3galnt2 UTSW 13 14,155,065 (GRCm39) splice site probably null
R7439:B3galnt2 UTSW 13 14,169,070 (GRCm39) missense probably benign 0.34
R7441:B3galnt2 UTSW 13 14,169,070 (GRCm39) missense probably benign 0.34
R7582:B3galnt2 UTSW 13 14,165,986 (GRCm39) missense probably damaging 1.00
R7849:B3galnt2 UTSW 13 14,169,077 (GRCm39) missense probably benign 0.15
R8135:B3galnt2 UTSW 13 14,145,454 (GRCm39) critical splice donor site probably null
R9216:B3galnt2 UTSW 13 14,165,423 (GRCm39) missense probably benign 0.08
R9229:B3galnt2 UTSW 13 14,166,107 (GRCm39) missense probably damaging 1.00
R9350:B3galnt2 UTSW 13 14,170,393 (GRCm39) missense probably damaging 1.00
R9422:B3galnt2 UTSW 13 14,150,136 (GRCm39) missense probably benign 0.36
Posted On 2015-04-16