Incidental Mutation 'R7311:B4galnt3'
ID 567580
Institutional Source Beutler Lab
Gene Symbol B4galnt3
Ensembl Gene ENSMUSG00000041372
Gene Name beta-1,4-N-acetyl-galactosaminyl transferase 3
Synonyms
MMRRC Submission 045367-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7311 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 120180034-120271520 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 120192396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 447 (Q447*)
Ref Sequence ENSEMBL: ENSMUSP00000058253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057283] [ENSMUST00000212457]
AlphaFold Q6L8S8
Predicted Effect probably null
Transcript: ENSMUST00000057283
AA Change: Q447*
SMART Domains Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372
AA Change: Q447*

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
PA14 129 276 1.16e-21 SMART
low complexity region 591 612 N/A INTRINSIC
Pfam:CHGN 650 985 3.9e-29 PFAM
Pfam:Glyco_transf_7C 896 974 3.3e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000212457
AA Change: Q446*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik A G 12: 110,635,184 (GRCm39) V118A probably benign Het
Accsl C T 2: 93,696,160 (GRCm39) G146D possibly damaging Het
Acsm1 A T 7: 119,237,305 (GRCm39) H206L probably damaging Het
Acta2 A G 19: 34,219,186 (GRCm39) Y339H probably damaging Het
Adcy2 T C 13: 68,779,073 (GRCm39) D989G probably damaging Het
Ahnak G A 19: 8,979,507 (GRCm39) A264T probably benign Het
Ahnak A G 19: 8,987,191 (GRCm39) D2825G possibly damaging Het
Akt1 G T 12: 112,623,587 (GRCm39) T291K probably damaging Het
Arhgap24 A G 5: 103,040,551 (GRCm39) D589G probably damaging Het
BC024063 C T 10: 81,945,993 (GRCm39) R538C possibly damaging Het
Bod1l A G 5: 41,951,676 (GRCm39) S2912P possibly damaging Het
Bysl A G 17: 47,912,710 (GRCm39) V360A possibly damaging Het
C1qb A G 4: 136,607,877 (GRCm39) V162A possibly damaging Het
Ccdc57 G A 11: 120,764,567 (GRCm39) P736L probably benign Het
Cep290 T A 10: 100,373,580 (GRCm39) F1287I probably damaging Het
Cntn1 T C 15: 92,130,156 (GRCm39) probably null Het
Col6a3 C T 1: 90,750,013 (GRCm39) G274R probably damaging Het
Cplane1 G T 15: 8,210,399 (GRCm39) V291F probably damaging Het
Cyb5r4 T C 9: 86,937,835 (GRCm39) C285R probably damaging Het
Cyp4f39 G A 17: 32,708,629 (GRCm39) C392Y probably damaging Het
Dcun1d3 A T 7: 119,458,734 (GRCm39) D100E probably damaging Het
Dhx58 A T 11: 100,588,997 (GRCm39) D516E probably benign Het
Dock5 T A 14: 68,065,951 (GRCm39) I351F probably benign Het
Elmod2 A C 8: 84,046,041 (GRCm39) probably null Het
Endov G A 11: 119,398,077 (GRCm39) A281T probably benign Het
Epyc A G 10: 97,485,562 (GRCm39) M1V probably null Het
Espnl T A 1: 91,251,290 (GRCm39) H128Q probably damaging Het
Fam20a A T 11: 109,565,454 (GRCm39) C452* probably null Het
Fam241b A G 10: 61,944,733 (GRCm39) V88A probably damaging Het
Fbxl9 A G 8: 106,042,299 (GRCm39) probably benign Het
Fgd3 A T 13: 49,450,166 (GRCm39) S28T possibly damaging Het
Fmn1 C A 2: 113,356,025 (GRCm39) P920Q unknown Het
Gpr139 G C 7: 118,744,089 (GRCm39) D165E probably benign Het
Hoxb1 A G 11: 96,257,927 (GRCm39) T286A possibly damaging Het
Ifi204 T A 1: 173,587,134 (GRCm39) E174D probably benign Het
Igf2bp2 A G 16: 21,880,632 (GRCm39) I555T possibly damaging Het
Ighv1-85 A G 12: 115,963,799 (GRCm39) I67T probably damaging Het
Ihh G C 1: 74,990,306 (GRCm39) P23R unknown Het
Irx2 T C 13: 72,779,396 (GRCm39) S227P probably damaging Het
Itga4 A G 2: 79,086,526 (GRCm39) I68V probably benign Het
Jsrp1 T A 10: 80,647,906 (GRCm39) T51S probably benign Het
Khdc4 T C 3: 88,619,002 (GRCm39) S569P probably damaging Het
Kifc2 G T 15: 76,547,010 (GRCm39) G306V probably damaging Het
L3mbtl2 T A 15: 81,551,588 (GRCm39) S85T possibly damaging Het
Lama1 T C 17: 68,074,380 (GRCm39) S944P Het
Lama4 T A 10: 38,902,631 (GRCm39) C202S probably damaging Het
Morc3 G A 16: 93,646,061 (GRCm39) D218N probably damaging Het
Mrtfb T A 16: 13,223,718 (GRCm39) Y866* probably null Het
Myorg A G 4: 41,498,577 (GRCm39) I351T probably damaging Het
N4bp2l1 G A 5: 150,496,389 (GRCm39) T179I probably damaging Het
Narf A G 11: 121,139,976 (GRCm39) E270G probably benign Het
Nsd2 A G 5: 34,049,380 (GRCm39) D1205G probably damaging Het
Or10x1 T C 1: 174,196,759 (GRCm39) V92A probably benign Het
Or5an11 T C 19: 12,246,068 (GRCm39) V158A probably benign Het
Parl T C 16: 20,106,625 (GRCm39) T195A probably benign Het
Phrf1 A G 7: 140,820,846 (GRCm39) I158V unknown Het
Phtf1 T C 3: 103,904,980 (GRCm39) F543L possibly damaging Het
Plod2 T A 9: 92,466,611 (GRCm39) D190E probably damaging Het
Polr1a G T 6: 71,927,863 (GRCm39) K871N possibly damaging Het
Ppp2r5a A T 1: 191,089,998 (GRCm39) I252K probably damaging Het
Ptgir T A 7: 16,640,973 (GRCm39) D88E probably damaging Het
Raly T C 2: 154,699,340 (GRCm39) V48A probably damaging Het
Ripor1 T A 8: 106,344,447 (GRCm39) L527* probably null Het
Rnf213 T C 11: 119,307,373 (GRCm39) S678P Het
Rpf1 T A 3: 146,212,918 (GRCm39) Q306L probably benign Het
Rpl14 T C 9: 120,403,171 (GRCm39) I122T probably damaging Het
Scn9a C A 2: 66,314,748 (GRCm39) A1657S possibly damaging Het
Serpinb10 A G 1: 107,474,477 (GRCm39) Y213C probably damaging Het
Slc25a23 A G 17: 57,359,827 (GRCm39) L308P probably damaging Het
Smg9 T A 7: 24,120,058 (GRCm39) M387K probably benign Het
Socs3 G A 11: 117,858,614 (GRCm39) P148L probably benign Het
Susd3 A G 13: 49,401,906 (GRCm39) L14P probably benign Het
Syt14 T A 1: 192,662,858 (GRCm39) M80L probably benign Het
Tmprss2 T A 16: 97,369,616 (GRCm39) Y386F possibly damaging Het
Tmx3 T A 18: 90,558,195 (GRCm39) S416T probably benign Het
Treh A G 9: 44,597,245 (GRCm39) T555A probably benign Het
Ttc5 T G 14: 51,003,400 (GRCm39) Q428P probably damaging Het
Vmn2r73 A G 7: 85,521,192 (GRCm39) S259P possibly damaging Het
Vps4b A T 1: 106,719,434 (GRCm39) V38E probably damaging Het
Wdr83 C A 8: 85,802,890 (GRCm39) R177L probably benign Het
Zfp780b A G 7: 27,662,588 (GRCm39) F656L possibly damaging Het
Zfp995 A T 17: 22,099,641 (GRCm39) F198I probably benign Het
Zswim8 A T 14: 20,771,552 (GRCm39) Y1495F probably damaging Het
Other mutations in B4galnt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:B4galnt3 APN 6 120,192,351 (GRCm39) missense possibly damaging 0.87
IGL01543:B4galnt3 APN 6 120,186,273 (GRCm39) missense probably benign 0.00
IGL02692:B4galnt3 APN 6 120,187,272 (GRCm39) missense probably damaging 1.00
IGL03149:B4galnt3 APN 6 120,208,555 (GRCm39) splice site probably benign
IGL03272:B4galnt3 APN 6 120,193,267 (GRCm39) missense probably damaging 1.00
Minimus UTSW 6 120,192,018 (GRCm39) missense probably benign
R0121:B4galnt3 UTSW 6 120,191,999 (GRCm39) missense probably benign
R0414:B4galnt3 UTSW 6 120,193,526 (GRCm39) missense probably benign 0.05
R1885:B4galnt3 UTSW 6 120,200,601 (GRCm39) missense probably damaging 0.99
R1908:B4galnt3 UTSW 6 120,187,051 (GRCm39) critical splice donor site probably null
R2264:B4galnt3 UTSW 6 120,180,771 (GRCm39) makesense probably null
R4208:B4galnt3 UTSW 6 120,192,063 (GRCm39) missense probably damaging 0.99
R4353:B4galnt3 UTSW 6 120,192,437 (GRCm39) missense possibly damaging 0.89
R4649:B4galnt3 UTSW 6 120,201,581 (GRCm39) missense probably damaging 1.00
R4874:B4galnt3 UTSW 6 120,184,167 (GRCm39) missense probably damaging 1.00
R5046:B4galnt3 UTSW 6 120,191,759 (GRCm39) missense probably damaging 1.00
R5232:B4galnt3 UTSW 6 120,209,949 (GRCm39) missense probably damaging 1.00
R5431:B4galnt3 UTSW 6 120,195,928 (GRCm39) missense probably damaging 1.00
R5447:B4galnt3 UTSW 6 120,192,018 (GRCm39) missense probably benign
R5458:B4galnt3 UTSW 6 120,187,346 (GRCm39) missense probably damaging 0.98
R5793:B4galnt3 UTSW 6 120,185,865 (GRCm39) critical splice donor site probably null
R5954:B4galnt3 UTSW 6 120,202,149 (GRCm39) missense possibly damaging 0.88
R5985:B4galnt3 UTSW 6 120,187,119 (GRCm39) missense probably damaging 1.00
R6156:B4galnt3 UTSW 6 120,191,801 (GRCm39) missense probably benign 0.02
R6176:B4galnt3 UTSW 6 120,201,125 (GRCm39) missense probably damaging 1.00
R6207:B4galnt3 UTSW 6 120,183,575 (GRCm39) splice site probably null
R6565:B4galnt3 UTSW 6 120,194,440 (GRCm39) nonsense probably null
R7153:B4galnt3 UTSW 6 120,191,929 (GRCm39) missense probably benign 0.00
R7268:B4galnt3 UTSW 6 120,192,003 (GRCm39) missense possibly damaging 0.92
R7307:B4galnt3 UTSW 6 120,192,392 (GRCm39) missense probably benign 0.00
R7360:B4galnt3 UTSW 6 120,209,940 (GRCm39) nonsense probably null
R7538:B4galnt3 UTSW 6 120,271,384 (GRCm39) nonsense probably null
R7674:B4galnt3 UTSW 6 120,192,166 (GRCm39) missense probably benign 0.01
R7706:B4galnt3 UTSW 6 120,195,913 (GRCm39) missense probably benign 0.16
R7727:B4galnt3 UTSW 6 120,202,148 (GRCm39) missense probably benign 0.03
R8125:B4galnt3 UTSW 6 120,201,554 (GRCm39) missense probably damaging 0.99
R8131:B4galnt3 UTSW 6 120,271,346 (GRCm39) splice site probably null
R8170:B4galnt3 UTSW 6 120,183,577 (GRCm39) splice site probably null
R9225:B4galnt3 UTSW 6 120,195,928 (GRCm39) missense probably damaging 1.00
R9462:B4galnt3 UTSW 6 120,271,438 (GRCm39) missense probably null 0.38
R9531:B4galnt3 UTSW 6 120,180,802 (GRCm39) missense probably damaging 1.00
R9544:B4galnt3 UTSW 6 120,209,905 (GRCm39) missense probably damaging 1.00
X0028:B4galnt3 UTSW 6 120,208,513 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCCTGGTCAGAATGAGACAAATC -3'
(R):5'- GCTTATCCAGGTCACCCAAC -3'

Sequencing Primer
(F):5'- AGACAAATCTCGGCTGGGCAC -3'
(R):5'- GCTTATCCAGGTCACCCAACAAATG -3'
Posted On 2019-06-26