Incidental Mutation 'R4208:B4galnt3'
ID 319024
Institutional Source Beutler Lab
Gene Symbol B4galnt3
Ensembl Gene ENSMUSG00000041372
Gene Name beta-1,4-N-acetyl-galactosaminyl transferase 3
Synonyms
MMRRC Submission 041037-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R4208 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 120180034-120271520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120192063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 557 (S557P)
Ref Sequence ENSEMBL: ENSMUSP00000148759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057283] [ENSMUST00000212457]
AlphaFold Q6L8S8
Predicted Effect probably damaging
Transcript: ENSMUST00000057283
AA Change: S558P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372
AA Change: S558P

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 damaging
Transcript: ENSMUST00000212457
AA Change: S557P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.0918 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,910,060 (GRCm39) L284P probably benign Het
Abca8b G A 11: 109,872,551 (GRCm39) Q17* probably null Het
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ace2 A G X: 162,952,581 (GRCm39) I110V probably benign Het
Adamts12 A G 15: 11,071,840 (GRCm39) H128R probably benign Het
Aoc1l2 A T 6: 48,908,581 (GRCm39) D527V probably damaging Het
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Casp12 T C 9: 5,346,629 (GRCm39) L52P probably damaging Het
Cep126 C T 9: 8,100,822 (GRCm39) E571K probably damaging Het
Cfhr1 A G 1: 139,475,616 (GRCm39) probably benign Het
Cmah A G 13: 24,601,410 (GRCm39) probably null Het
Col10a1 C T 10: 34,271,539 (GRCm39) P504S probably damaging Het
Ctnna3 T A 10: 64,795,557 (GRCm39) D758E probably benign Het
Cyp2c65 T C 19: 39,079,099 (GRCm39) S393P probably damaging Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Dis3 T G 14: 99,332,752 (GRCm39) I227L probably benign Het
Efhc2 T C X: 17,096,789 (GRCm39) N186S possibly damaging Het
F13b G T 1: 139,444,079 (GRCm39) W471L probably damaging Het
Fam181a A G 12: 103,282,173 (GRCm39) D26G probably damaging Het
Gabpb2 A G 3: 95,111,245 (GRCm39) probably benign Het
Gm7293 A G 9: 51,534,879 (GRCm39) noncoding transcript Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Kif3b G A 2: 153,165,477 (GRCm39) R628Q probably damaging Het
Lars1 T C 18: 42,362,768 (GRCm39) E557G probably benign Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Lingo2 T C 4: 35,709,810 (GRCm39) I57V probably benign Het
Lsr A G 7: 30,672,519 (GRCm39) I27T probably benign Het
Me2 T C 18: 73,924,156 (GRCm39) K352R probably benign Het
Met T C 6: 17,548,728 (GRCm39) V924A possibly damaging Het
Mpp3 T C 11: 101,891,426 (GRCm39) T571A probably benign Het
Or4c1 A T 2: 89,133,270 (GRCm39) I222N probably damaging Het
Or52n3 A G 7: 104,530,810 (GRCm39) T299A probably damaging Het
Padi1 C A 4: 140,544,538 (GRCm39) V552L possibly damaging Het
Pfkfb1 A T X: 149,405,184 (GRCm39) D208V possibly damaging Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
RP24-126A19.1 C A 5: 146,832,606 (GRCm39) R123L noncoding transcript Het
Scn10a T A 9: 119,445,842 (GRCm39) E1438V probably damaging Het
Sfmbt2 T A 2: 10,547,793 (GRCm39) D458E probably damaging Het
Slitrk3 T A 3: 72,958,490 (GRCm39) Y94F possibly damaging Het
Sstr2 A C 11: 113,515,482 (GRCm39) T134P probably damaging Het
Steap4 A G 5: 8,030,404 (GRCm39) Y420C probably damaging Het
Tamm41 AGGG AGG 6: 114,989,320 (GRCm39) probably benign Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Trbv23 A T 6: 41,193,022 (GRCm39) I6F probably benign Het
Vmn1r87 A G 7: 12,866,185 (GRCm39) V34A probably benign Het
Zc3h7a C T 16: 10,982,508 (GRCm39) E6K possibly damaging Het
Zfp606 G A 7: 12,228,102 (GRCm39) C683Y 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
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
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'- GGGTCAAACATAGGCACATATTCG -3'
(R):5'- GTAGCGCCTCTTTCCAAACAG -3'

Sequencing Primer
(F):5'- TAGGCACATATTCGAACACCTC -3'
(R):5'- ACTGCCTTTCCAACCAGG -3'
Posted On 2015-06-10