Incidental Mutation 'R6156:B4galnt3'
ID 489577
Institutional Source Beutler Lab
Gene Symbol B4galnt3
Ensembl Gene ENSMUSG00000041372
Gene Name beta-1,4-N-acetyl-galactosaminyl transferase 3
Synonyms
MMRRC Submission 044303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6156 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 120180034-120271520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120191801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 644 (N644S)
Ref Sequence ENSEMBL: ENSMUSP00000148759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057283] [ENSMUST00000212457]
AlphaFold Q6L8S8
Predicted Effect probably benign
Transcript: ENSMUST00000057283
AA Change: N645S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372
AA Change: N645S

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 benign
Transcript: ENSMUST00000212457
AA Change: N644S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
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
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T 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
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'- TTCCTGCAGCAGAAACCCTG -3'
(R):5'- GACAGGATAGAGCCTCCAAC -3'

Sequencing Primer
(F):5'- AGAAACCCTGCTTCATGGC -3'
(R):5'- ACGTGGTGATAGCGGCG -3'
Posted On 2017-10-10