Incidental Mutation 'IGL01924:B4galnt1'
ID 180231
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01924
Quality Score
Status
Chromosome 10
Chromosomal Location 127001094-127008199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127002630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 88 (S88G)
Ref Sequence ENSEMBL: ENSMUSP00000151229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006914] [ENSMUST00000217678] [ENSMUST00000222911]
AlphaFold Q09200
Predicted Effect probably benign
Transcript: ENSMUST00000006914
AA Change: S88G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006914
Gene: ENSMUSG00000006731
AA Change: S88G

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: ENSMUST00000217678
AA Change: S88G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221174
Predicted Effect probably benign
Transcript: ENSMUST00000222911
Coding Region Coverage
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,362,047 (GRCm39) probably benign Het
Adamts13 A G 2: 26,886,595 (GRCm39) E938G possibly damaging Het
Aox1 C T 1: 58,326,902 (GRCm39) T167I possibly damaging Het
Apba3 G T 10: 81,108,907 (GRCm39) A557S probably benign Het
Atad2b T C 12: 5,084,093 (GRCm39) L1382P probably damaging Het
Atrn C T 2: 130,777,485 (GRCm39) T178I probably damaging Het
Baz2b T C 2: 59,765,615 (GRCm39) K887E probably damaging Het
Castor2 T C 5: 134,164,441 (GRCm39) F134S probably benign Het
Ccdc162 A C 10: 41,445,883 (GRCm39) F430V probably damaging Het
Cdc42bpb T A 12: 111,283,887 (GRCm39) probably benign Het
Cfhr4 G A 1: 139,666,944 (GRCm39) L444F probably damaging Het
Chit1 A G 1: 134,077,148 (GRCm39) D317G probably benign Het
Chrnb1 A T 11: 69,685,845 (GRCm39) probably benign Het
Cobl G T 11: 12,204,596 (GRCm39) T620K probably benign Het
Creld1 T C 6: 113,460,921 (GRCm39) F20L probably benign Het
Csmd2 A T 4: 128,453,740 (GRCm39) D3475V unknown Het
Cyp3a57 A G 5: 145,309,439 (GRCm39) D259G probably benign Het
Dbnl A G 11: 5,747,142 (GRCm39) Y224C probably damaging Het
Det1 A T 7: 78,493,571 (GRCm39) C144* probably null Het
Fbxo47 G T 11: 97,746,986 (GRCm39) A360D probably damaging Het
Frrs1 G A 3: 116,678,888 (GRCm39) G237R probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Gria2 T C 3: 80,617,638 (GRCm39) T372A probably benign Het
Hmcn2 A T 2: 31,288,929 (GRCm39) Q2246L probably benign Het
Ide T C 19: 37,249,563 (GRCm39) M930V unknown Het
Kdm5a T C 6: 120,371,216 (GRCm39) probably null Het
Khnyn A G 14: 56,132,426 (GRCm39) T625A probably benign Het
Lrrtm1 T C 6: 77,221,169 (GRCm39) F209L possibly damaging Het
Med13 C A 11: 86,199,522 (GRCm39) probably benign Het
Myom2 A G 8: 15,119,685 (GRCm39) E147G probably benign Het
Myrip T A 9: 120,217,330 (GRCm39) V88D probably damaging Het
Nbeal2 T C 9: 110,460,482 (GRCm39) H1784R probably benign Het
Nlrp4e T A 7: 23,020,255 (GRCm39) C247* probably null Het
Nup54 G A 5: 92,572,294 (GRCm39) P252L probably benign Het
Or51ag1 A G 7: 103,156,003 (GRCm39) I50T possibly damaging Het
Otoa C A 7: 120,705,191 (GRCm39) N244K probably damaging Het
Pbrm1 G A 14: 30,804,561 (GRCm39) R960H probably damaging Het
Ptcd3 A T 6: 71,875,411 (GRCm39) N190K probably damaging Het
Rhobtb1 T A 10: 69,106,134 (GRCm39) L233H probably damaging Het
Sec24c T A 14: 20,739,757 (GRCm39) F545I probably damaging Het
Slc6a15 T C 10: 103,240,686 (GRCm39) probably null Het
Slitrk1 G A 14: 109,148,671 (GRCm39) A680V probably benign Het
Smpd1 C T 7: 105,204,655 (GRCm39) S178L probably benign Het
Spindoc A G 19: 7,360,042 (GRCm39) L42P probably damaging Het
Tenm4 A G 7: 96,544,419 (GRCm39) E2145G probably damaging Het
Tmem144 G T 3: 79,746,501 (GRCm39) A18E probably damaging Het
Tmem213 A T 6: 38,086,373 (GRCm39) S10C possibly damaging Het
Trav6-3 A T 14: 53,667,800 (GRCm39) I102L probably benign Het
Trip11 T G 12: 101,853,143 (GRCm39) N483T possibly damaging Het
Unc13b C T 4: 43,239,385 (GRCm39) R1056* probably null Het
Wdr27 T G 17: 15,137,488 (GRCm39) K433N probably damaging Het
Wls C A 3: 159,607,080 (GRCm39) S189* probably null Het
Yeats2 A G 16: 20,024,917 (GRCm39) N706D probably damaging Het
Zbp1 A G 2: 173,054,047 (GRCm39) V158A probably benign Het
Zfp595 G T 13: 67,465,847 (GRCm39) H139N possibly 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
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
R4708:B4galnt1 UTSW 10 127,005,684 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-05-07