Incidental Mutation 'R4708:B4galnt1'
ID 355431
Institutional Source Beutler Lab
Gene Symbol B4galnt1
Ensembl Gene ENSMUSG00000006731
Gene Name beta-1,4-N-acetyl-galactosaminyl transferase 1
Synonyms beta1,4GalNAC-T, Gal-NAc-T, GalNAc-T, Galgt1, GalNAcT, Ggm2, GM2/GD2 synthase, Ggm-2, 4933429D13Rik
MMRRC Submission 042017-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4708 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127001094-127008199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127005684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 262 (Y262N)
Ref Sequence ENSEMBL: ENSMUSP00000006914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006914] [ENSMUST00000095270] [ENSMUST00000217678] [ENSMUST00000222911]
AlphaFold Q09200
Predicted Effect probably damaging
Transcript: ENSMUST00000006914
AA Change: Y262N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006914
Gene: ENSMUSG00000006731
AA Change: Y262N

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
low complexity region 191 202 N/A INTRINSIC
Pfam:Glycos_transf_2 280 450 7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095270
SMART Domains Protein: ENSMUSP00000092904
Gene: ENSMUSG00000040441

DomainStartEndE-ValueType
low complexity region 51 78 N/A INTRINSIC
low complexity region 82 97 N/A INTRINSIC
Pfam:Sulfate_transp 105 497 5.5e-103 PFAM
low complexity region 512 522 N/A INTRINSIC
Pfam:STAS 549 664 3.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220055
Predicted Effect probably benign
Transcript: ENSMUST00000222911
Meta Mutation Damage Score 0.5381 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for one knock-out allele lack all complex gangliosides but show normal brain histology and gross behavior with only subtle defects in neural conduction velocities. Mice homozygous for another knock-out allele exhibit male infertility due to degeneration of the seminiferous tubules. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik G A 7: 41,261,309 (GRCm39) G2D probably damaging Het
4930505A04Rik T C 11: 30,404,717 (GRCm39) Y62C probably damaging Het
Aadacl4 A C 4: 144,349,899 (GRCm39) K385N probably benign Het
Abcb4 A T 5: 8,965,125 (GRCm39) T332S possibly damaging Het
Aco2 G A 15: 81,794,117 (GRCm39) probably null Het
Aplf G T 6: 87,640,739 (GRCm39) S69Y probably damaging Het
Arhgap27 A G 11: 103,224,388 (GRCm39) probably benign Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc62 T G 5: 124,068,925 (GRCm39) probably null Het
Cd109 T A 9: 78,579,871 (GRCm39) I649K probably benign Het
Cd209b T C 8: 3,974,215 (GRCm39) E99G probably damaging Het
Cep290 A G 10: 100,359,126 (GRCm39) K952R probably benign Het
Ces2a A G 8: 105,463,938 (GRCm39) H190R probably benign Het
Clec14a A G 12: 58,314,489 (GRCm39) S378P probably benign Het
Col27a1 A G 4: 63,202,150 (GRCm39) Q947R probably benign Het
Dennd3 A G 15: 73,395,344 (GRCm39) T146A probably damaging Het
Dpy19l4 T A 4: 11,277,970 (GRCm39) M486L probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Eif4enif1 T G 11: 3,170,323 (GRCm39) H125Q probably damaging Het
Fcgbp A T 7: 27,794,386 (GRCm39) M1197L probably benign Het
Fubp3 C T 2: 31,498,122 (GRCm39) T92I probably benign Het
Gm19426 T C 2: 84,573,803 (GRCm39) probably null Het
Gtf2ird2 A G 5: 134,245,140 (GRCm39) H466R probably damaging Het
Hdac5 T C 11: 102,093,019 (GRCm39) S573G probably damaging Het
Iars2 A T 1: 185,021,554 (GRCm39) M916K probably benign Het
Insr A T 8: 3,261,346 (GRCm39) probably benign Het
Itgam T C 7: 127,700,709 (GRCm39) V493A probably damaging Het
Ivl T A 3: 92,479,057 (GRCm39) K336I probably damaging Het
Kcng2 A G 18: 80,366,067 (GRCm39) I95T probably damaging Het
Lap3 A G 5: 45,668,480 (GRCm39) R431G probably damaging Het
Lrrc66 T C 5: 73,787,005 (GRCm39) H115R probably benign Het
Morc3 T C 16: 93,670,126 (GRCm39) V767A probably benign Het
Mttp A G 3: 137,839,859 (GRCm39) probably benign Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nat9 G A 11: 115,074,269 (GRCm39) T133M probably damaging Het
Nectin4 T C 1: 171,212,714 (GRCm39) I349T probably benign Het
Nlrp4a A G 7: 26,163,533 (GRCm39) E900G probably benign Het
Nlrp9c A T 7: 26,084,265 (GRCm39) M438K probably benign Het
Or2y14 T A 11: 49,405,216 (GRCm39) Y250* probably null Het
Or52p2 A T 7: 102,237,043 (GRCm39) D302E probably benign Het
Or5b21 A T 19: 12,839,261 (GRCm39) I41F probably benign Het
Parp6 T C 9: 59,549,052 (GRCm39) I507T probably damaging Het
Pde6c G A 19: 38,169,341 (GRCm39) E804K possibly damaging Het
Plscr2 A G 9: 92,173,067 (GRCm39) Y203C probably damaging Het
Ptprs A G 17: 56,735,067 (GRCm39) W216R probably damaging Het
Rhof T A 5: 123,258,454 (GRCm39) T126S probably benign Het
Riox2 A G 16: 59,296,045 (GRCm39) I49V probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rusf1 A G 7: 127,873,852 (GRCm39) V345A probably benign Het
Shld2 A G 14: 33,989,790 (GRCm39) V372A probably benign Het
Spata31e2 A T 1: 26,723,521 (GRCm39) V553D possibly damaging Het
Tmc6 A T 11: 117,659,774 (GRCm39) C750S probably benign Het
Tmem231 C A 8: 112,660,418 (GRCm39) probably benign Het
Tmem94 T A 11: 115,677,121 (GRCm39) I131N possibly damaging Het
Tmx3 T C 18: 90,539,163 (GRCm39) probably null Het
Tnfrsf21 C T 17: 43,349,123 (GRCm39) T245I possibly damaging Het
Ttbk2 C A 2: 120,570,342 (GRCm39) R1201S probably damaging Het
Vmn2r102 A T 17: 19,914,576 (GRCm39) M714L probably benign Het
Vmn2r109 A G 17: 20,761,605 (GRCm39) L584S probably damaging Het
Vmn2r53 T A 7: 12,335,129 (GRCm39) H177L probably benign Het
Vnn1 T A 10: 23,773,250 (GRCm39) D92E probably benign Het
Zan T C 5: 137,444,974 (GRCm39) I1762V unknown Het
Zbtb20 G T 16: 43,431,039 (GRCm39) A517S probably damaging Het
Zfhx4 A G 3: 5,310,563 (GRCm39) probably null Het
Zfp560 T C 9: 20,263,214 (GRCm39) E54G possibly damaging Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y probably damaging Het
Zmynd11 A C 13: 9,745,789 (GRCm39) V188G probably damaging Het
Other mutations in B4galnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:B4galnt1 APN 10 127,003,633 (GRCm39) missense probably benign 0.01
IGL01087:B4galnt1 APN 10 127,002,060 (GRCm39) missense probably damaging 1.00
IGL01301:B4galnt1 APN 10 127,005,648 (GRCm39) missense possibly damaging 0.56
IGL01924:B4galnt1 APN 10 127,002,630 (GRCm39) missense probably benign 0.01
IGL02996:B4galnt1 APN 10 127,002,872 (GRCm39) missense probably damaging 1.00
Hypokalemic UTSW 10 127,007,662 (GRCm39) splice site probably null
ANU18:B4galnt1 UTSW 10 127,005,648 (GRCm39) missense possibly damaging 0.56
R0233:B4galnt1 UTSW 10 127,006,780 (GRCm39) unclassified probably benign
R4646:B4galnt1 UTSW 10 127,003,705 (GRCm39) missense probably damaging 0.99
R4702:B4galnt1 UTSW 10 127,003,394 (GRCm39) missense possibly damaging 0.90
R4703:B4galnt1 UTSW 10 127,003,394 (GRCm39) missense possibly damaging 0.90
R4705:B4galnt1 UTSW 10 127,003,394 (GRCm39) missense possibly damaging 0.90
R5377:B4galnt1 UTSW 10 127,007,691 (GRCm39) missense possibly damaging 0.95
R6644:B4galnt1 UTSW 10 127,007,662 (GRCm39) splice site probably null
R7006:B4galnt1 UTSW 10 127,005,700 (GRCm39) missense probably benign 0.00
R7278:B4galnt1 UTSW 10 127,003,657 (GRCm39) missense probably benign 0.01
R7396:B4galnt1 UTSW 10 127,007,485 (GRCm39) missense possibly damaging 0.89
R7886:B4galnt1 UTSW 10 127,002,923 (GRCm39) missense probably damaging 0.99
R7935:B4galnt1 UTSW 10 127,007,490 (GRCm39) missense probably damaging 1.00
R8738:B4galnt1 UTSW 10 127,007,584 (GRCm39) missense probably benign 0.28
R9057:B4galnt1 UTSW 10 127,006,999 (GRCm39) missense probably damaging 1.00
R9520:B4galnt1 UTSW 10 127,006,580 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTCAGAACGGTATGATCTTGCC -3'
(R):5'- GGCAATGGTAACCAGAGCAC -3'

Sequencing Primer
(F):5'- CCACCAAGGCCTGAAAAGG -3'
(R):5'- ACCAGAGCACTGATGTTGTACTCG -3'
Posted On 2015-10-21