Incidental Mutation 'R2507:B4galt5'
Institutional Source Beutler Lab
Gene Symbol B4galt5
Ensembl Gene ENSMUSG00000017929
Gene NameUDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5
MMRRC Submission 040413-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2507 (G1)
Quality Score225
Status Not validated
Chromosomal Location167298444-167349183 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 167306638 bp
Amino Acid Change Methionine to Leucine at position 187 (M187L)
Ref Sequence ENSEMBL: ENSMUSP00000104844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109221]
Predicted Effect probably benign
Transcript: ENSMUST00000109221
AA Change: M187L

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104844
Gene: ENSMUSG00000017929
AA Change: M187L

transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 114 249 3.1e-57 PFAM
Pfam:Glyco_transf_7C 253 332 1.6e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133557
Predicted Effect probably benign
Transcript: ENSMUST00000149698
SMART Domains Protein: ENSMUSP00000118229
Gene: ENSMUSG00000017929

SCOP:d1j8wb_ 15 86 9e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155623
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. Heterozygous mutant mice exhibit increased anxiety-like response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,621,782 probably benign Het
4930535I16Rik G A 4: 123,917,947 probably benign Het
Akr1b3 C T 6: 34,310,064 E186K probably damaging Het
Apc A T 18: 34,316,537 N2128I possibly damaging Het
Api5 T C 2: 94,429,817 I31M probably damaging Het
Armcx4 T G X: 134,695,379 V2012G possibly damaging Het
Aurka T C 2: 172,370,445 E4G probably benign Het
Bsn T C 9: 108,116,114 D813G probably damaging Het
Bub1 A T 2: 127,801,423 D1000E probably benign Het
C87499 T A 4: 88,629,211 K161N possibly damaging Het
Cacna1f T G X: 7,626,448 probably null Het
Cdh6 A G 15: 13,041,361 I539T probably benign Het
Cdhr3 T C 12: 33,038,915 D756G probably benign Het
Cenph A T 13: 100,771,236 D85E probably benign Het
Chd9 C T 8: 91,033,987 P2120L probably benign Het
Clec2h A G 6: 128,673,982 N75S probably benign Het
Cnga1 C T 5: 72,619,061 V20I possibly damaging Het
Cox4i1 T A 8: 120,673,290 V51E possibly damaging Het
Cpne3 A T 4: 19,553,871 N53K probably damaging Het
Cpt1b A G 15: 89,419,098 F585L probably benign Het
Daam1 G A 12: 71,975,223 D732N probably damaging Het
Dner A T 1: 84,583,080 C115S probably damaging Het
Dopey1 T A 9: 86,513,117 F759Y probably damaging Het
Dst T C 1: 34,011,909 Y29H probably damaging Het
Dst T C 1: 34,188,417 V1875A possibly damaging Het
Duox1 A G 2: 122,333,138 D817G probably benign Het
Emc2 A T 15: 43,511,698 probably null Het
Erich3 A T 3: 154,698,659 E51V probably null Het
Exoc2 A G 13: 30,882,365 Y443H possibly damaging Het
Fbf1 T C 11: 116,155,426 R200G probably benign Het
Fdxr G A 11: 115,271,980 T100I probably damaging Het
Galnt11 C G 5: 25,247,612 P41A probably damaging Het
Galnt4 A G 10: 99,109,286 K291R possibly damaging Het
Gm12695 T A 4: 96,754,189 E301V probably damaging Het
Gopc C T 10: 52,353,326 probably null Het
Gria1 A T 11: 57,289,320 T699S probably null Het
Gsr T G 8: 33,680,288 D200E probably benign Het
Ikzf2 G A 1: 69,539,288 A282V probably benign Het
Irak2 T C 6: 113,647,678 I45T probably damaging Het
Irx1 T C 13: 71,959,820 K248E probably damaging Het
Kcns3 A C 12: 11,092,086 V204G possibly damaging Het
Lmo1 C A 7: 109,140,641 M91I probably damaging Het
Map3k21 A G 8: 125,939,938 D623G possibly damaging Het
Map4 A G 9: 110,037,483 probably benign Het
Mark3 T A 12: 111,627,242 V236E probably damaging Het
Med23 A G 10: 24,910,813 D939G probably damaging Het
Mrgpra9 A G 7: 47,235,494 C142R possibly damaging Het
N4bp2 T A 5: 65,790,061 D11E probably benign Het
Ntng2 T C 2: 29,207,519 N310S probably damaging Het
Olfr1328 T C 4: 118,933,925 M308V probably benign Het
Olfr1414 A G 1: 92,511,378 S217P probably damaging Het
Pcolce A G 5: 137,607,051 V260A possibly damaging Het
Pds5b C A 5: 150,756,428 T533K possibly damaging Het
Pecr A G 1: 72,261,976 Y268H probably benign Het
Phax T A 18: 56,586,884 F299Y probably damaging Het
Phip T C 9: 82,915,339 H537R possibly damaging Het
Prpf39 T A 12: 65,057,815 F551L probably benign Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Ralgapa1 G A 12: 55,718,201 P889S probably damaging Het
Rpap1 A G 2: 119,780,054 probably null Het
Rufy3 T C 5: 88,649,898 S645P probably damaging Het
Spata7 G T 12: 98,658,450 A172S probably benign Het
Stk35 A G 2: 129,801,515 T140A probably damaging Het
Thop1 T G 10: 81,070,264 M1R probably null Het
Tlr1 T C 5: 64,925,296 Y646C probably damaging Het
Tpp2 A G 1: 44,001,449 Y290C probably benign Het
Tpr A G 1: 150,392,944 M1V probably null Het
Trim6 T C 7: 104,228,185 F161L probably damaging Het
Ubash3b T C 9: 41,157,354 K25E possibly damaging Het
Unc45b G A 11: 82,940,137 probably null Het
Unc80 A G 1: 66,612,107 N1537S possibly damaging Het
Usb1 T C 8: 95,343,124 F100S probably damaging Het
Vmn1r17 C A 6: 57,361,259 L40F probably damaging Het
Vmn1r233 A T 17: 20,993,848 M280K probably benign Het
Zfp37 A T 4: 62,191,256 C524S probably damaging Het
Zfp426 T C 9: 20,470,431 K420R probably benign Het
Other mutations in B4galt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01997:B4galt5 APN 2 167301341 missense probably benign 0.17
IGL02573:B4galt5 APN 2 167305062 missense probably benign 0.01
IGL03305:B4galt5 APN 2 167305783 missense probably damaging 0.96
R0115:B4galt5 UTSW 2 167309234 missense probably damaging 1.00
R0481:B4galt5 UTSW 2 167309234 missense probably damaging 1.00
R1989:B4galt5 UTSW 2 167305003 missense probably damaging 0.97
R2508:B4galt5 UTSW 2 167306638 missense probably benign 0.29
R5144:B4galt5 UTSW 2 167306596 missense possibly damaging 0.95
R5717:B4galt5 UTSW 2 167306629 missense probably damaging 0.99
R6315:B4galt5 UTSW 2 167305809 missense probably damaging 1.00
R7241:B4galt5 UTSW 2 167306697 missense probably damaging 1.00
R7315:B4galt5 UTSW 2 167301376 missense probably damaging 1.00
R7677:B4galt5 UTSW 2 167305078 missense probably damaging 1.00
R7868:B4galt5 UTSW 2 167301420 nonsense probably null
R7951:B4galt5 UTSW 2 167301420 nonsense probably null
R7995:B4galt5 UTSW 2 167301376 missense probably damaging 1.00
R8005:B4galt5 UTSW 2 167301464 missense probably damaging 1.00
R8197:B4galt5 UTSW 2 167302103 missense probably benign 0.38
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-12-04