Incidental Mutation 'R6207:B4galnt3'
ID 503188
Institutional Source Beutler Lab
Gene Symbol B4galnt3
Ensembl Gene ENSMUSG00000041372
Gene Name beta-1,4-N-acetyl-galactosaminyl transferase 3
Synonyms
MMRRC Submission 044341-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6207 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 120180034-120271520 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 120183575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057283] [ENSMUST00000057283] [ENSMUST00000057283] [ENSMUST00000212457] [ENSMUST00000212457] [ENSMUST00000212457]
AlphaFold Q6L8S8
Predicted Effect probably null
Transcript: ENSMUST00000057283
SMART Domains Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372

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: ENSMUST00000057283
SMART Domains Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372

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: ENSMUST00000057283
SMART Domains Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372

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 noncoding transcript
Transcript: ENSMUST00000125341
Predicted Effect probably null
Transcript: ENSMUST00000212457
Predicted Effect probably null
Transcript: ENSMUST00000212457
Predicted Effect probably null
Transcript: ENSMUST00000212457
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik G A 7: 126,430,065 (GRCm39) P69S probably damaging Het
Abca15 A G 7: 119,973,017 (GRCm39) R864G probably benign Het
Acbd5 T C 2: 22,959,490 (GRCm39) C15R possibly damaging Het
Ahctf1 A T 1: 179,604,955 (GRCm39) probably null Het
Ak3 T A 19: 29,000,340 (GRCm39) K190N probably damaging Het
Calcrl T C 2: 84,163,874 (GRCm39) H439R probably benign Het
Casp7 T A 19: 56,429,452 (GRCm39) D279E possibly damaging Het
Cckar A G 5: 53,857,186 (GRCm39) V337A probably benign Het
Cep85l T C 10: 53,157,651 (GRCm39) Y684C probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Homo
Commd7 T C 2: 153,474,530 (GRCm39) N23S possibly damaging Het
Cpne9 A T 6: 113,271,734 (GRCm39) I365F possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dot1l C T 10: 80,622,277 (GRCm39) A831V probably benign Het
Entrep1 T C 19: 23,950,802 (GRCm39) E593G probably damaging Het
Epcam C A 17: 87,947,864 (GRCm39) N111K probably damaging Het
Etnk1 A G 6: 143,126,524 (GRCm39) Q123R probably damaging Het
Fam170a A T 18: 50,415,017 (GRCm39) E221V probably damaging Het
Fbl T C 7: 27,874,278 (GRCm39) S88P possibly damaging Het
Fbxo36 T A 1: 84,874,251 (GRCm39) Y82* probably null Het
Fer1l5 A G 1: 36,424,241 (GRCm39) K285R probably damaging Het
Foxn3 G T 12: 99,162,569 (GRCm39) T444K probably damaging Het
Gak C T 5: 108,772,895 (GRCm39) probably null Het
Gprc6a T C 10: 51,502,931 (GRCm39) I311V probably benign Het
Hrg T C 16: 22,773,288 (GRCm39) probably null Het
Htatip2 G A 7: 49,420,567 (GRCm39) V138I probably benign Het
Ighv1-4 A T 12: 114,451,142 (GRCm39) probably benign Het
Kcnq2 T C 2: 180,755,026 (GRCm39) M174V possibly damaging Het
Krt39 G T 11: 99,412,041 (GRCm39) P15Q probably damaging Het
L1td1 G A 4: 98,625,655 (GRCm39) D617N possibly damaging Het
Lgalsl T A 11: 20,779,382 (GRCm39) K88* probably null Het
Lims1 A T 10: 58,230,386 (GRCm39) K49M possibly damaging Het
Man2a1 T C 17: 65,020,600 (GRCm39) V792A probably benign Het
Mcm2 G T 6: 88,862,844 (GRCm39) D749E probably benign Het
Mdga1 G A 17: 30,057,491 (GRCm39) T775M probably damaging Het
Myb A G 10: 21,021,221 (GRCm39) S403P probably benign Het
Nek6 T C 2: 38,447,846 (GRCm39) S37P possibly damaging Het
Or10d1b T C 9: 39,613,606 (GRCm39) H153R probably benign Het
Or14c46 A C 7: 85,918,968 (GRCm39) F10V probably damaging Het
Or52a33 A G 7: 103,289,209 (GRCm39) V46A probably benign Het
Or56b2j G A 7: 104,352,818 (GRCm39) V15M probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Prune2 T A 19: 17,095,480 (GRCm39) I328N probably damaging Het
Psap T A 10: 60,136,317 (GRCm39) C484S probably damaging Het
Pus1 T C 5: 110,925,580 (GRCm39) D80G probably benign Het
Rasa3 T C 8: 13,648,251 (GRCm39) T138A possibly damaging Het
Scaf1 G T 7: 44,657,047 (GRCm39) probably benign Het
Skap1 T A 11: 96,594,959 (GRCm39) Y143* probably null Het
Slc22a20 A G 19: 6,035,969 (GRCm39) L67P probably damaging Het
Slc25a17 T C 15: 81,213,265 (GRCm39) Y146C probably damaging Het
Slfn4 C T 11: 83,079,951 (GRCm39) T154I possibly damaging Het
Snai1 T A 2: 167,380,229 (GRCm39) V7D probably damaging Het
Snrnp200 T A 2: 127,052,655 (GRCm39) M84K probably benign Het
Spop G T 11: 95,362,063 (GRCm39) K31N possibly damaging Het
Surf1 T C 2: 26,804,819 (GRCm39) T145A probably benign Het
Tbkbp1 T C 11: 97,037,165 (GRCm39) E278G probably damaging Het
Thumpd2 G A 17: 81,363,266 (GRCm39) A67V probably damaging Het
Timd4 A T 11: 46,706,353 (GRCm39) M52L probably damaging Het
Trav16 A T 14: 53,981,045 (GRCm39) N78I probably damaging Het
Tspan12 T C 6: 21,799,907 (GRCm39) T147A probably damaging Het
Tulp1 A T 17: 28,577,651 (GRCm39) probably benign Het
Ubqlnl A T 7: 103,797,915 (GRCm39) N527K possibly damaging Het
Ubr4 G A 4: 139,148,559 (GRCm39) C1681Y probably damaging Het
Unc13c T C 9: 73,665,910 (GRCm39) K1037E possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r4 G A 3: 64,313,926 (GRCm39) H352Y probably damaging Het
Vmn2r61 A T 7: 41,909,616 (GRCm39) H47L probably benign Het
Vwa5a A G 9: 38,633,968 (GRCm39) E57G probably damaging Het
Zfp180 A T 7: 23,804,510 (GRCm39) R310* probably null Het
Zfp672 T C 11: 58,208,349 (GRCm39) probably benign 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
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
R7311:B4galnt3 UTSW 6 120,192,396 (GRCm39) nonsense probably null
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'- AGCAAAGTTCTGTGGCCCTG -3'
(R):5'- ACATCAGCCATGGTCACAGC -3'

Sequencing Primer
(F):5'- GCACTGGAGCTCTAGCAGATC -3'
(R):5'- CAGCCATGGTCACAGCTATGTTTG -3'
Posted On 2018-02-27