Incidental Mutation 'R2264:B4galnt3'
ID 243991
Institutional Source Beutler Lab
Gene Symbol B4galnt3
Ensembl Gene ENSMUSG00000041372
Gene Name beta-1,4-N-acetyl-galactosaminyl transferase 3
Synonyms
MMRRC Submission 040264-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R2264 (G1)
Quality Score 202
Status Validated
Chromosome 6
Chromosomal Location 120180034-120271520 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 120180771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 986 (*986W)
Ref Sequence ENSEMBL: ENSMUSP00000148759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035244] [ENSMUST00000057283] [ENSMUST00000112711] [ENSMUST00000212457]
AlphaFold Q6L8S8
Predicted Effect probably benign
Transcript: ENSMUST00000035244
SMART Domains Protein: ENSMUSP00000046306
Gene: ENSMUSG00000041377

DomainStartEndE-ValueType
Pfam:Ninjurin 14 117 4.9e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000057283
AA Change: *987W
SMART Domains Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372
AA Change: *987W

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 benign
Transcript: ENSMUST00000112711
SMART Domains Protein: ENSMUSP00000108331
Gene: ENSMUSG00000041377

DomainStartEndE-ValueType
Pfam:Ninjurin 25 126 3.8e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125341
Predicted Effect probably null
Transcript: ENSMUST00000212457
AA Change: *986W
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 94% (65/69)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,100 (GRCm39) S1042P probably damaging Het
Armc1 C T 3: 19,189,033 (GRCm39) V211I probably damaging Het
BC024139 T A 15: 76,010,117 (GRCm39) D105V probably damaging Het
BC049715 C T 6: 136,817,434 (GRCm39) Q225* probably null Het
Cadps2 T C 6: 23,323,339 (GRCm39) H1043R probably benign Het
Ccdc42 T C 11: 68,478,477 (GRCm39) V33A probably benign Het
Cldn1 A G 16: 26,177,949 (GRCm39) Y159H probably damaging Het
Cog6 A T 3: 52,900,332 (GRCm39) C476* probably null Het
Col14a1 T G 15: 55,330,086 (GRCm39) probably null Het
Crisp1 C T 17: 40,623,965 (GRCm39) M1I probably null Het
Dip2b T A 15: 100,101,097 (GRCm39) S1297T probably benign Het
Dlgap4 A G 2: 156,543,383 (GRCm39) E262G probably benign Het
Dnai7 A G 6: 145,154,155 (GRCm39) probably benign Het
Dpp4 A C 2: 62,208,583 (GRCm39) V187G possibly damaging Het
F5 A G 1: 164,021,971 (GRCm39) D1482G probably benign Het
Fads6 T A 11: 115,177,061 (GRCm39) T132S probably damaging Het
Fat4 A G 3: 38,944,571 (GRCm39) I1155V probably benign Het
Fermt1 C T 2: 132,757,110 (GRCm39) probably null Het
Fstl1 C T 16: 37,597,653 (GRCm39) probably benign Het
Get3 G A 8: 85,751,887 (GRCm39) probably benign Het
Gm5089 T C 14: 122,673,514 (GRCm39) Y69C unknown Het
Gm9871 T C 6: 101,773,201 (GRCm39) noncoding transcript Het
Gpr89 A G 3: 96,779,831 (GRCm39) S375P probably damaging Het
Gtf2h4 A G 17: 35,979,556 (GRCm39) probably benign Het
Gtsf1 T A 15: 103,328,391 (GRCm39) N148I possibly damaging Het
Hexa T C 9: 59,462,660 (GRCm39) S129P probably damaging Het
Iigp1 A T 18: 60,523,738 (GRCm39) E285D probably benign Het
Il23r T A 6: 67,403,651 (GRCm39) probably null Het
Iqch T C 9: 63,419,581 (GRCm39) K463R probably benign Het
Kcnd1 A G X: 7,690,323 (GRCm39) probably null Het
Kif26b A T 1: 178,756,407 (GRCm39) probably null Het
Loxl1 A G 9: 58,204,961 (GRCm39) V418A probably damaging Het
Lrp2 T C 2: 69,312,710 (GRCm39) D2526G possibly damaging Het
Map4 G T 9: 109,910,525 (GRCm39) G851C probably damaging Het
Mtmr11 A T 3: 96,076,413 (GRCm39) E456V possibly damaging Het
Muc13 G A 16: 33,628,409 (GRCm39) probably null Het
Myo18a C A 11: 77,710,798 (GRCm39) probably benign Het
Nphp4 T A 4: 152,587,465 (GRCm39) probably benign Het
Nrg3 T C 14: 38,103,659 (GRCm39) E445G probably damaging Het
Ntrk1 A G 3: 87,686,941 (GRCm39) probably null Het
Or8b1 G T 9: 38,399,351 (GRCm39) V9L possibly damaging Het
Parp6 T C 9: 59,531,288 (GRCm39) S57P probably damaging Het
Pcdhb12 A G 18: 37,569,858 (GRCm39) N335D probably damaging Het
Pdzph1 T C 17: 59,195,162 (GRCm39) probably null Het
Pea15a C T 1: 172,026,704 (GRCm39) R79H probably benign Het
Pik3ca A C 3: 32,492,076 (GRCm39) I225L possibly damaging Het
Pim3 T A 15: 88,748,793 (GRCm39) I270N probably damaging Het
Pkd1l1 T A 11: 8,829,112 (GRCm39) R1043S probably damaging Het
Plekhg6 A G 6: 125,354,431 (GRCm39) S70P probably benign Het
Ptpn13 T A 5: 103,637,527 (GRCm39) D138E possibly damaging Het
Rap1gap T C 4: 137,455,034 (GRCm39) L354P probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sf3a1 T A 11: 4,127,443 (GRCm39) S590T probably benign Het
Slc14a2 T C 18: 78,206,304 (GRCm39) probably benign Het
Slfn3 T G 11: 83,103,798 (GRCm39) I223S probably benign Het
Smarca1 C T X: 46,964,160 (GRCm39) V331I probably benign Het
Soat1 A G 1: 156,265,267 (GRCm39) probably benign Het
Tinagl1 A G 4: 130,061,226 (GRCm39) V308A probably benign Het
Tomm22 T A 15: 79,555,488 (GRCm39) Y78N probably damaging Het
Ttll1 T C 15: 83,380,609 (GRCm39) Y252C probably damaging Het
Ttn C T 2: 76,623,474 (GRCm39) V15368I probably benign Het
Ubr4 T C 4: 139,147,684 (GRCm39) probably benign Het
Wbp2 T C 11: 115,970,424 (GRCm39) probably null Het
Xkr7 A T 2: 152,896,177 (GRCm39) I344F probably damaging Het
Zfp947 A T 17: 22,364,919 (GRCm39) C252S 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
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
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'- TCAACTTGGTGAGCAGCAGAG -3'
(R):5'- AGGGTCTGACAAACATGTGG -3'

Sequencing Primer
(F):5'- AGCAGAGGAGCCTTGGC -3'
(R):5'- CCCAGTTGCTCTTGGGTGC -3'
Posted On 2014-10-16