Incidental Mutation 'R1942:B3galnt1'
ID 216266
Institutional Source Beutler Lab
Gene Symbol B3galnt1
Ensembl Gene ENSMUSG00000043300
Gene Name UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1
Synonyms Mbrn 1, Globoside blood group, B3galt3, Brainiac 1
MMRRC Submission 039960-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R1942 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 69481491-69506293 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 69483258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000058363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061826]
AlphaFold Q920V1
Predicted Effect probably null
Transcript: ENSMUST00000061826
AA Change: M1K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000058363
Gene: ENSMUSG00000043300
AA Change: M1K

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Galactosyl_T 92 285 4.5e-68 PFAM
Meta Mutation Damage Score 0.9425 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.7%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]
PHENOTYPE: A homozygous null mutation of this gene results in embryonic lethality. Mice homozygous for a second allele appear normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A T 15: 81,949,625 (GRCm39) Y1174F probably damaging Het
Ahnak A G 19: 8,992,447 (GRCm39) E4577G probably damaging Het
Anapc4 T C 5: 53,004,056 (GRCm39) V291A probably benign Het
Apba2 A G 7: 64,345,218 (GRCm39) E136G possibly damaging Het
Arhgap20 C A 9: 51,742,998 (GRCm39) Q279K probably benign Het
C4bp C A 1: 130,583,804 (GRCm39) probably benign Het
Catsperg1 G A 7: 28,906,232 (GRCm39) T157I possibly damaging Het
Cfap90 A C 13: 68,761,090 (GRCm39) I171L probably benign Het
Chrm1 T A 19: 8,655,637 (GRCm39) M114K probably damaging Het
Clasp1 A G 1: 118,429,078 (GRCm39) E329G possibly damaging Het
Clrn2 A C 5: 45,611,337 (GRCm39) Y62S probably benign Het
Col12a1 T G 9: 79,542,748 (GRCm39) D2339A probably damaging Het
Copa T A 1: 171,939,455 (GRCm39) L564Q probably damaging Het
Cpeb2 C A 5: 43,392,596 (GRCm39) probably benign Het
Dhx57 A T 17: 80,572,573 (GRCm39) M647K probably damaging Het
Diaph3 C T 14: 87,378,556 (GRCm39) probably benign Het
Eomes A G 9: 118,313,716 (GRCm39) D587G probably benign Het
Gm5142 T A 14: 59,416,156 (GRCm39) M1L probably benign Het
Gnl2 A G 4: 124,923,957 (GRCm39) I12V probably benign Het
Gprin1 C T 13: 54,887,752 (GRCm39) C174Y probably benign Het
Grin2b A T 6: 135,709,730 (GRCm39) V1272E possibly damaging Het
Hdac9 A G 12: 34,479,544 (GRCm39) L227S probably damaging Het
Helz T A 11: 107,493,318 (GRCm39) L247Q probably benign Het
Hs6st1 T C 1: 36,107,803 (GRCm39) V22A probably benign Het
Hspg2 C A 4: 137,269,863 (GRCm39) A2304E possibly damaging Het
Htr3a T C 9: 48,819,911 (GRCm39) Y73C probably damaging Het
Il1rap A C 16: 26,541,205 (GRCm39) E482A probably damaging Het
Itsn2 T A 12: 4,689,670 (GRCm39) L581* probably null Het
Msmb A G 14: 31,870,034 (GRCm39) E2G probably benign Het
Muc19 T C 15: 91,776,666 (GRCm39) noncoding transcript Het
Muc4 A C 16: 32,569,460 (GRCm39) L173F probably damaging Het
Muc5b A T 7: 141,411,421 (GRCm39) S1456C unknown Het
Mylip A T 13: 45,560,172 (GRCm39) I203F probably damaging Het
Nckap5 A T 1: 125,952,039 (GRCm39) D1504E probably damaging Het
Neil1 C G 9: 57,053,891 (GRCm39) R143P probably benign Het
Nlrp2 T A 7: 5,325,447 (GRCm39) T742S probably damaging Het
Nme8 A G 13: 19,859,978 (GRCm39) V214A probably damaging Het
Nsun7 C T 5: 66,441,588 (GRCm39) T419I probably benign Het
Nup210l G A 3: 90,058,544 (GRCm39) E648K probably benign Het
Or10g6 T A 9: 39,934,031 (GRCm39) L114H probably damaging Het
Or10g6 T C 9: 39,934,048 (GRCm39) Y120H probably damaging Het
Or2y1c T C 11: 49,360,981 (GRCm39) M1T probably null Het
Or8s2 A G 15: 98,276,445 (GRCm39) L182P probably damaging Het
Parp11 A C 6: 127,447,663 (GRCm39) probably null Het
Pomgnt1 G T 4: 116,012,472 (GRCm39) probably null Het
Ppp1r14c T C 10: 3,413,417 (GRCm39) I150T probably damaging Het
Psd4 A G 2: 24,295,805 (GRCm39) E908G probably damaging Het
Psmd6 A T 14: 14,116,442 (GRCm38) V91E probably damaging Het
Ptk2b A T 14: 66,406,830 (GRCm39) V634D probably damaging Het
Rapgef6 A G 11: 54,548,089 (GRCm39) I753V possibly damaging Het
Rbm45 G A 2: 76,205,823 (GRCm39) probably null Het
Ric1 A G 19: 29,578,416 (GRCm39) probably benign Het
Sh3rf2 A G 18: 42,282,689 (GRCm39) K416E probably damaging Het
Six5 C T 7: 18,830,858 (GRCm39) A495V possibly damaging Het
Slc27a6 T A 18: 58,689,870 (GRCm39) M112K probably damaging Het
Slc5a4a T C 10: 75,983,422 (GRCm39) S20P unknown Het
Smg1 A G 7: 117,757,326 (GRCm39) probably benign Het
Sntb2 G A 8: 107,737,984 (GRCm39) A511T probably damaging Het
Stk31 A T 6: 49,416,061 (GRCm39) N622I probably damaging Het
Sulf1 T C 1: 12,918,397 (GRCm39) F38S probably damaging Het
Szt2 G T 4: 118,249,817 (GRCm39) T521K probably benign Het
Terf1 G T 1: 15,876,038 (GRCm39) R46I probably benign Het
Tmem245 A G 4: 56,923,511 (GRCm39) probably benign Het
Tmigd1 T C 11: 76,804,905 (GRCm39) probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Umod A G 7: 119,076,155 (GRCm39) Y204H probably damaging Het
Vcan T A 13: 89,851,543 (GRCm39) Q1139L probably benign Het
Vmn1r85 T A 7: 12,818,668 (GRCm39) T159S possibly damaging Het
Vmn2r103 T A 17: 20,032,562 (GRCm39) S779T probably benign Het
Vmn2r27 C T 6: 124,200,722 (GRCm39) A412T probably damaging Het
Zc3h12d A C 10: 7,729,077 (GRCm39) D147A probably damaging Het
Zfp800 A T 6: 28,243,272 (GRCm39) D564E probably benign Het
Zfp932 A G 5: 110,154,853 (GRCm39) E17G probably damaging Het
Other mutations in B3galnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0101:B3galnt1 UTSW 3 69,483,139 (GRCm39) missense probably benign 0.01
R0230:B3galnt1 UTSW 3 69,482,673 (GRCm39) missense possibly damaging 0.80
R1580:B3galnt1 UTSW 3 69,483,040 (GRCm39) missense possibly damaging 0.95
R1628:B3galnt1 UTSW 3 69,482,961 (GRCm39) missense probably damaging 1.00
R5137:B3galnt1 UTSW 3 69,482,282 (GRCm39) missense probably benign 0.01
R6418:B3galnt1 UTSW 3 69,482,326 (GRCm39) missense probably damaging 1.00
R6468:B3galnt1 UTSW 3 69,482,866 (GRCm39) missense probably damaging 1.00
R6473:B3galnt1 UTSW 3 69,482,673 (GRCm39) missense possibly damaging 0.80
R7236:B3galnt1 UTSW 3 69,482,950 (GRCm39) missense probably benign 0.36
R7363:B3galnt1 UTSW 3 69,483,157 (GRCm39) missense probably damaging 1.00
R7501:B3galnt1 UTSW 3 69,482,632 (GRCm39) missense probably benign 0.17
R7819:B3galnt1 UTSW 3 69,483,108 (GRCm39) missense probably damaging 1.00
R7911:B3galnt1 UTSW 3 69,482,574 (GRCm39) missense probably damaging 1.00
R7999:B3galnt1 UTSW 3 69,482,548 (GRCm39) missense probably damaging 0.99
R8954:B3galnt1 UTSW 3 69,482,673 (GRCm39) missense possibly damaging 0.80
R8964:B3galnt1 UTSW 3 69,482,589 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGAATGGGTTCTGATGAG -3'
(R):5'- CCTGGTCATTTTAACCTGGGTC -3'

Sequencing Primer
(F):5'- CGTGAAGCGAAAGTCTTGTC -3'
(R):5'- AACCTGGGTCTTGATGTGCAC -3'
Posted On 2014-08-01