Incidental Mutation 'R4854:B3gnt3'
ID 373799
Institutional Source Beutler Lab
Gene Symbol B3gnt3
Ensembl Gene ENSMUSG00000031803
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3
Synonyms 2210008L19Rik
MMRRC Submission 042465-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R4854 (G1)
Quality Score 224
Status Validated
Chromosome 8
Chromosomal Location 71690756-71701789 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71692873 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 284 (R284C)
Ref Sequence ENSEMBL: ENSMUSP00000034260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034260] [ENSMUST00000034261] [ENSMUST00000051995] [ENSMUST00000110012] [ENSMUST00000110013]
AlphaFold Q5JCS9
Predicted Effect probably damaging
Transcript: ENSMUST00000034260
AA Change: R284C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034260
Gene: ENSMUSG00000031803
AA Change: R284C

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Galactosyl_T 121 314 5.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034261
SMART Domains Protein: ENSMUSP00000034261
Gene: ENSMUSG00000079019

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
IlGF 26 120 2.46e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000051995
SMART Domains Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805

DomainStartEndE-ValueType
B41 20 254 2.2e-42 SMART
SH2 370 460 5.57e-8 SMART
low complexity region 488 503 N/A INTRINSIC
STYKc 517 773 3.58e-12 SMART
TyrKc 818 1091 4.59e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110012
SMART Domains Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805

DomainStartEndE-ValueType
B41 20 254 2.2e-42 SMART
SH2 370 460 5.57e-8 SMART
low complexity region 488 503 N/A INTRINSIC
STYKc 517 773 3.58e-12 SMART
TyrKc 818 1091 4.59e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110013
SMART Domains Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805

DomainStartEndE-ValueType
B41 20 254 2.2e-42 SMART
SH2 370 460 5.57e-8 SMART
low complexity region 488 503 N/A INTRINSIC
STYKc 517 773 3.58e-12 SMART
TyrKc 818 1091 4.59e-105 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212491
Meta Mutation Damage Score 0.4208 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (103/105)
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 family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation display increases in thermal pain sensation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik T A 9: 22,208,037 (GRCm38) noncoding transcript Het
2700049A03Rik G T 12: 71,164,546 (GRCm38) E685* probably null Het
2700049A03Rik A T 12: 71,164,547 (GRCm38) E685V possibly damaging Het
Abl1 T C 2: 31,779,010 (GRCm38) Y110H probably damaging Het
Ablim2 C T 5: 35,802,422 (GRCm38) R73C possibly damaging Het
Agbl3 G A 6: 34,785,284 (GRCm38) R73Q probably damaging Het
Agl C T 3: 116,778,618 (GRCm38) probably null Het
Amotl1 G A 9: 14,593,451 (GRCm38) Q191* probably null Het
Apbb1ip A G 2: 22,853,202 (GRCm38) K349E possibly damaging Het
Arhgap10 G A 8: 77,420,089 (GRCm38) Q229* probably null Het
Aspm C T 1: 139,478,072 (GRCm38) Q1566* probably null Het
Brd4 A G 17: 32,220,237 (GRCm38) V423A probably damaging Het
Btbd9 A T 17: 30,524,865 (GRCm38) I221N probably damaging Het
Camp A G 9: 109,847,451 (GRCm38) V168A probably benign Het
Cd1d2 T A 3: 86,989,249 (GRCm38) probably null Het
Cdkn2d A T 9: 21,290,927 (GRCm38) V8D probably benign Het
Clec4g T C 8: 3,716,534 (GRCm38) N256D probably damaging Het
Clspn A G 4: 126,575,950 (GRCm38) I771V probably benign Het
Cntn6 A G 6: 104,859,475 (GRCm38) E862G possibly damaging Het
Col6a5 T C 9: 105,898,751 (GRCm38) T1702A probably benign Het
Dnah7a T C 1: 53,706,729 (GRCm38) probably benign Het
Dubr T C 16: 50,732,523 (GRCm38) noncoding transcript Het
Dusp26 G A 8: 31,094,137 (GRCm38) V91M probably damaging Het
Edc4 A T 8: 105,887,925 (GRCm38) probably benign Het
F5 C T 1: 164,192,146 (GRCm38) A730V probably damaging Het
Foxf1 A G 8: 121,086,814 (GRCm38) T358A probably benign Het
Frem1 A T 4: 82,916,758 (GRCm38) N1810K possibly damaging Het
Galc A T 12: 98,256,877 (GRCm38) F87I probably damaging Het
Gars A G 6: 55,046,418 (GRCm38) D66G probably damaging Het
Gbp11 G A 5: 105,325,508 (GRCm38) L460F probably damaging Het
Gdf7 T C 12: 8,298,014 (GRCm38) I436V probably damaging Het
Gigyf2 C T 1: 87,354,413 (GRCm38) probably benign Het
Gm12239 T C 11: 56,015,953 (GRCm38) noncoding transcript Het
Gm5592 A C 7: 41,217,471 (GRCm38) probably benign Het
Gp2 A T 7: 119,452,199 (GRCm38) D264E possibly damaging Het
Gphn G A 12: 78,627,210 (GRCm38) V526M probably damaging Het
Grid1 A G 14: 35,321,641 (GRCm38) I318V probably benign Het
Grm2 C A 9: 106,654,132 (GRCm38) V53F possibly damaging Het
Gtpbp1 T C 15: 79,719,205 (GRCm38) S632P probably benign Het
H2-M1 A G 17: 36,670,058 (GRCm38) F329L probably benign Het
Hecw1 T A 13: 14,316,892 (GRCm38) D92V probably benign Het
Hgh1 T C 15: 76,369,182 (GRCm38) L76P probably damaging Het
Idi2 C A 13: 8,957,843 (GRCm38) N63K probably benign Het
Ift122 A G 6: 115,862,746 (GRCm38) T25A possibly damaging Het
Itgb2l A T 16: 96,426,117 (GRCm38) C575* probably null Het
Jup A G 11: 100,383,041 (GRCm38) S225P possibly damaging Het
Kcng3 A T 17: 83,588,306 (GRCm38) C244S probably damaging Het
Klhl2 T A 8: 64,834,459 (GRCm38) M46L possibly damaging Het
Ksr1 A T 11: 79,027,702 (GRCm38) I460N probably damaging Het
Lama3 T A 18: 12,411,542 (GRCm38) F314Y probably benign Het
Lbp T C 2: 158,327,518 (GRCm38) V421A possibly damaging Het
Lcp1 G A 14: 75,200,489 (GRCm38) G113D probably damaging Het
Lrp1b A T 2: 41,111,077 (GRCm38) L2045H probably damaging Het
Mbd2 G T 18: 70,568,735 (GRCm38) D107Y unknown Het
Ms4a14 C T 19: 11,310,369 (GRCm38) V96I possibly damaging Het
N4bp2l2 C T 5: 150,662,051 (GRCm38) E155K probably benign Het
Nbeal2 T G 9: 110,631,396 (GRCm38) H1790P probably damaging Het
Nsg2 G A 11: 32,031,806 (GRCm38) G84R probably benign Het
Odf3 A G 7: 140,849,462 (GRCm38) Y168C probably damaging Het
Olfr1145 A G 2: 87,810,590 (GRCm38) T257A probably damaging Het
Olfr286 A C 15: 98,227,544 (GRCm38) F34V possibly damaging Het
P2rx2 T C 5: 110,340,927 (GRCm38) N224D probably damaging Het
P2rx5 A T 11: 73,171,779 (GRCm38) E438V probably benign Het
Paip1 C A 13: 119,449,889 (GRCm38) probably benign Het
Pik3c2g T A 6: 139,768,779 (GRCm38) V219E probably damaging Het
Ppp1r12b T C 1: 134,873,951 (GRCm38) E509G probably damaging Het
Ppp1r15a T C 7: 45,525,373 (GRCm38) S4G probably benign Het
Ppp5c T C 7: 17,009,022 (GRCm38) S224G probably benign Het
Prr30 T G 14: 101,198,443 (GRCm38) I228L probably benign Het
Purg A G 8: 33,387,314 (GRCm38) I327V possibly damaging Het
Ralb T C 1: 119,475,915 (GRCm38) T161A probably benign Het
Ripor3 T C 2: 167,992,813 (GRCm38) R253G probably benign Het
Scgb2b6 T C 7: 31,617,832 (GRCm38) noncoding transcript Het
Setd5 G T 6: 113,151,399 (GRCm38) G1438W probably damaging Het
Sh3rf3 T A 10: 58,813,723 (GRCm38) L50Q possibly damaging Het
Sipa1l2 G T 8: 125,473,601 (GRCm38) T662K probably damaging Het
Skint5 A G 4: 113,580,528 (GRCm38) L1021S unknown Het
Slc22a23 T C 13: 34,203,941 (GRCm38) S391G probably benign Het
Slc4a5 G A 6: 83,271,017 (GRCm38) V402I probably benign Het
Slco4c1 G A 1: 96,841,228 (GRCm38) P303L probably damaging Het
Spink5 A T 18: 44,020,841 (GRCm38) *1018C probably null Het
Stag3 T A 5: 138,296,694 (GRCm38) probably null Het
Tmem117 T C 15: 95,094,688 (GRCm38) F410L probably damaging Het
Tmod1 A G 4: 46,090,920 (GRCm38) K158E possibly damaging Het
Tpsb2 GGCTGCTGCTGCTGCTG GGCTGCTGCTGCTG 17: 25,366,562 (GRCm38) probably benign Het
Traf4 G A 11: 78,161,520 (GRCm38) Q100* probably null Het
Trpc4 A G 3: 54,302,218 (GRCm38) Y668C probably damaging Het
Ttn T A 2: 76,767,583 (GRCm38) N11335I possibly damaging Het
Uhrf1bp1l T G 10: 89,794,484 (GRCm38) V382G probably damaging Het
Usp39 A T 6: 72,325,682 (GRCm38) V463E probably benign Het
Vmn1r6 A C 6: 57,002,698 (GRCm38) Y115S probably benign Het
Vmn2r44 A G 7: 8,380,301 (GRCm38) I98T possibly damaging Het
Zfp462 A G 4: 55,010,668 (GRCm38) Y878C probably damaging Het
Zfp474 T C 18: 52,638,431 (GRCm38) I52T possibly damaging Het
Other mutations in B3gnt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:B3gnt3 APN 8 71,693,004 (GRCm38) missense possibly damaging 0.57
R0046:B3gnt3 UTSW 8 71,692,923 (GRCm38) missense probably damaging 1.00
R0046:B3gnt3 UTSW 8 71,692,923 (GRCm38) missense probably damaging 1.00
R0652:B3gnt3 UTSW 8 71,693,822 (GRCm38) missense probably benign 0.01
R1104:B3gnt3 UTSW 8 71,693,837 (GRCm38) missense possibly damaging 0.93
R2125:B3gnt3 UTSW 8 71,693,358 (GRCm38) missense probably damaging 1.00
R2132:B3gnt3 UTSW 8 71,693,327 (GRCm38) missense probably damaging 1.00
R2251:B3gnt3 UTSW 8 71,692,818 (GRCm38) missense probably damaging 1.00
R2252:B3gnt3 UTSW 8 71,692,818 (GRCm38) missense probably damaging 1.00
R2253:B3gnt3 UTSW 8 71,692,818 (GRCm38) missense probably damaging 1.00
R4418:B3gnt3 UTSW 8 71,693,769 (GRCm38) missense probably benign 0.03
R4911:B3gnt3 UTSW 8 71,692,934 (GRCm38) missense probably benign 0.00
R5042:B3gnt3 UTSW 8 71,692,888 (GRCm38) missense probably damaging 1.00
R5778:B3gnt3 UTSW 8 71,692,938 (GRCm38) missense probably benign 0.02
R6249:B3gnt3 UTSW 8 71,692,662 (GRCm38) missense probably damaging 1.00
R7585:B3gnt3 UTSW 8 71,693,328 (GRCm38) missense probably damaging 1.00
R7853:B3gnt3 UTSW 8 71,692,713 (GRCm38) missense probably damaging 1.00
R8191:B3gnt3 UTSW 8 71,693,478 (GRCm38) missense probably benign 0.06
R8734:B3gnt3 UTSW 8 71,693,501 (GRCm38) missense probably damaging 0.99
R9012:B3gnt3 UTSW 8 71,693,029 (GRCm38) missense probably damaging 1.00
Z1088:B3gnt3 UTSW 8 71,693,765 (GRCm38) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- ATCAGCAGCATCTCGAAGG -3'
(R):5'- AATGGGGACGACGATGTGTTC -3'

Sequencing Primer
(F):5'- CAGCATCTCGAAGGGCAGG -3'
(R):5'- GGTCACCTACCTGCAGGAC -3'
Posted On 2016-03-01