Incidental Mutation 'IGL01791:B3gnt4'
ID155228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3gnt4
Ensembl Gene ENSMUSG00000029431
Gene NameUDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL01791
Quality Score
Status
Chromosome5
Chromosomal Location123510460-123511882 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 123511099 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 176 (R176C)
Ref Sequence ENSEMBL: ENSMUSP00000031384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031384] [ENSMUST00000094327] [ENSMUST00000111587] [ENSMUST00000121444] [ENSMUST00000125652] [ENSMUST00000139398] [ENSMUST00000145152] [ENSMUST00000196809] [ENSMUST00000197682] [ENSMUST00000200247]
Predicted Effect probably damaging
Transcript: ENSMUST00000031384
AA Change: R176C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031384
Gene: ENSMUSG00000029431
AA Change: R176C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Galactosyl_T 106 297 1.3e-43 PFAM
Pfam:Fringe 169 302 2.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094327
SMART Domains Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
SCOP:d1a9na_ 117 262 3e-16 SMART
low complexity region 389 402 N/A INTRINSIC
low complexity region 537 565 N/A INTRINSIC
low complexity region 614 629 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111587
SMART Domains Protein: ENSMUSP00000107214
Gene: ENSMUSG00000029433

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 9 237 4.1e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121444
SMART Domains Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
SCOP:d1a9na_ 117 262 4e-16 SMART
low complexity region 389 402 N/A INTRINSIC
low complexity region 530 558 N/A INTRINSIC
low complexity region 607 622 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125652
SMART Domains Protein: ENSMUSP00000115045
Gene: ENSMUSG00000029433

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 6 237 1.1e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134552
Predicted Effect probably benign
Transcript: ENSMUST00000139398
SMART Domains Protein: ENSMUSP00000143485
Gene: ENSMUSG00000029433

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 6 150 7.1e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145152
SMART Domains Protein: ENSMUSP00000143617
Gene: ENSMUSG00000029433

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 9 150 3.4e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196809
SMART Domains Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
SCOP:d1a9na_ 117 262 2e-16 SMART
low complexity region 389 402 N/A INTRINSIC
low complexity region 537 565 N/A INTRINSIC
low complexity region 635 652 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197682
Predicted Effect probably benign
Transcript: ENSMUST00000200247
SMART Domains Protein: ENSMUSP00000143673
Gene: ENSMUSG00000029433

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 1 109 4.4e-57 PFAM
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 beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Arhgap32 A G 9: 32,247,190 I174V probably damaging Het
Asb15 T A 6: 24,567,212 C511S probably damaging Het
Atr C T 9: 95,921,781 A1896V probably benign Het
Brf1 T C 12: 112,962,475 D557G probably benign Het
Catsperg2 T A 7: 29,704,665 probably null Het
Ccdc144b T C 3: 36,035,267 probably benign Het
Cdip1 A G 16: 4,768,865 I122T probably damaging Het
Ctrl C T 8: 105,932,567 E147K probably benign Het
Dennd2c T C 3: 103,166,425 V829A probably benign Het
Dync1h1 T A 12: 110,658,930 L3874Q probably damaging Het
Gm10521 T C 1: 171,896,397 S92P unknown Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Hddc2 A G 10: 31,326,026 Y123C probably damaging Het
Hyal4 T C 6: 24,763,895 probably benign Het
Ighv16-1 T C 12: 114,068,969 N71S probably benign Het
Ing2 A T 8: 47,669,035 S159R probably benign Het
Itga1 A T 13: 114,987,661 N698K probably benign Het
Lemd2 A T 17: 27,190,728 I483N probably damaging Het
Lyst T C 13: 13,635,302 L519P probably damaging Het
Mapk10 T C 5: 102,996,648 N101S probably damaging Het
Nfatc4 A T 14: 55,832,238 E164V probably null Het
Nfkb2 T G 19: 46,309,839 probably benign Het
Nox3 A G 17: 3,682,943 V231A possibly damaging Het
Nup160 G A 2: 90,703,853 G674D probably damaging Het
Olfr364-ps1 A T 2: 37,146,536 D108V probably damaging Het
Olfr657 C T 7: 104,636,475 T267I possibly damaging Het
Otoa T G 7: 121,155,849 V998G probably benign Het
Pcnx3 A T 19: 5,673,267 M1300K probably benign Het
Pde4b A G 4: 102,590,930 probably benign Het
Rfc1 T A 5: 65,263,145 K1104I probably benign Het
Serpina1f G T 12: 103,693,502 Q174K probably damaging Het
Serping1 T C 2: 84,773,377 N107D possibly damaging Het
Surf6 A G 2: 26,899,747 S94P probably benign Het
Tctex1d4 T A 4: 117,128,597 S206T probably damaging Het
Tigd4 T A 3: 84,594,745 I323N probably damaging Het
Vmn2r28 T C 7: 5,488,162 D362G probably benign Het
Wdfy3 A G 5: 101,937,412 S739P probably damaging Het
Other mutations in B3gnt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:B3gnt4 APN 5 123511068 missense probably damaging 1.00
IGL02825:B3gnt4 APN 5 123511051 missense possibly damaging 0.58
R1996:B3gnt4 UTSW 5 123511339 missense probably damaging 1.00
R2070:B3gnt4 UTSW 5 123511370 missense probably benign 0.00
R2071:B3gnt4 UTSW 5 123511370 missense probably benign 0.00
R2254:B3gnt4 UTSW 5 123511279 missense probably damaging 0.99
R2255:B3gnt4 UTSW 5 123511279 missense probably damaging 0.99
R3153:B3gnt4 UTSW 5 123510653 missense probably benign 0.00
R3608:B3gnt4 UTSW 5 123510775 missense probably damaging 1.00
R5021:B3gnt4 UTSW 5 123510947 missense probably damaging 0.98
R6438:B3gnt4 UTSW 5 123511591 missense probably benign 0.02
R6496:B3gnt4 UTSW 5 123511591 missense probably benign 0.02
Posted On2014-02-04