Incidental Mutation 'R0831:B4galt4'
ID77581
Institutional Source Beutler Lab
Gene Symbol B4galt4
Ensembl Gene ENSMUSG00000022793
Gene NameUDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 4
Synonyms
MMRRC Submission 039010-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.299) question?
Stock #R0831 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location38742264-38769049 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 38767979 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 57 (E57D)
Ref Sequence ENSEMBL: ENSMUSP00000110359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023482] [ENSMUST00000114708] [ENSMUST00000114710] [ENSMUST00000114711] [ENSMUST00000114712] [ENSMUST00000154902] [ENSMUST00000232454]
Predicted Effect probably benign
Transcript: ENSMUST00000023482
AA Change: E328D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023482
Gene: ENSMUSG00000022793
AA Change: E328D

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Glyco_transf_7N 77 209 8.4e-63 PFAM
Pfam:Glyco_transf_7C 213 290 1e-30 PFAM
Pfam:Glyco_tranf_2_2 224 289 2.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114708
AA Change: E57D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000110356
Gene: ENSMUSG00000022793
AA Change: E57D

DomainStartEndE-ValueType
SCOP:d1j8wb_ 1 71 2e-30 SMART
PDB:2FYD|D 1 73 3e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000114710
AA Change: E57D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000110358
Gene: ENSMUSG00000022793
AA Change: E57D

DomainStartEndE-ValueType
SCOP:d1j8wb_ 1 71 2e-30 SMART
PDB:2FYD|D 1 73 3e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000114711
AA Change: E57D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000110359
Gene: ENSMUSG00000022793
AA Change: E57D

DomainStartEndE-ValueType
SCOP:d1j8wb_ 1 71 2e-30 SMART
PDB:2FYD|D 1 73 3e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000114712
AA Change: E328D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110360
Gene: ENSMUSG00000022793
AA Change: E328D

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Glyco_transf_7N 77 211 6.2e-58 PFAM
Pfam:Glyco_transf_7C 213 290 6.9e-31 PFAM
Pfam:Glyco_tranf_2_2 224 289 3.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154902
SMART Domains Protein: ENSMUSP00000118593
Gene: ENSMUSG00000022793

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Glyco_transf_7N 77 211 5.9e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161010
Predicted Effect probably benign
Transcript: ENSMUST00000232454
AA Change: E57D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.9%
  • 20x: 92.0%
Validation Efficiency 95% (82/86)
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 enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik T C 9: 103,269,779 H292R possibly damaging Het
2900092C05Rik C T 7: 12,550,596 probably benign Het
3425401B19Rik T C 14: 32,662,271 N579S probably benign Het
A530032D15Rik C G 1: 85,099,505 K113N probably benign Het
Adck1 G T 12: 88,368,348 M1I probably null Het
Adgra3 A T 5: 49,970,802 I779N probably damaging Het
Adgrf2 A G 17: 42,710,443 S497P probably damaging Het
Afg3l2 A C 18: 67,421,227 F468L probably damaging Het
Alms1 T A 6: 85,628,520 I2384N probably benign Het
Ankrd13b A T 11: 77,472,759 S244R probably damaging Het
Aox2 T A 1: 58,339,683 H1030Q probably benign Het
Ap1b1 A G 11: 5,023,092 probably benign Het
Atxn2l A G 7: 126,499,160 S187P probably damaging Het
Cad T C 5: 31,067,600 V949A probably damaging Het
Cadps2 C T 6: 23,321,740 S1051N possibly damaging Het
Ccdc66 C T 14: 27,497,356 V148I probably benign Het
Ccser1 C T 6: 61,423,061 P55S probably damaging Het
Cds2 T C 2: 132,285,967 probably null Het
Cep95 A G 11: 106,814,704 D548G probably benign Het
Chil3 A G 3: 106,149,747 Y294H probably benign Het
Chmp5 A G 4: 40,949,500 D39G probably damaging Het
Chrd T A 16: 20,741,309 F887I probably damaging Het
Col24a1 G T 3: 145,328,759 G580V probably damaging Het
Col6a2 A T 10: 76,604,105 N655K probably damaging Het
Ctsf A T 19: 4,859,840 Y416F possibly damaging Het
Dennd5a A C 7: 109,934,754 V77G probably damaging Het
Dna2 A T 10: 62,959,329 K460* probably null Het
Dnah17 A T 11: 118,060,271 M2842K probably damaging Het
Dnajc13 C A 9: 104,172,612 G1765V probably damaging Het
Donson A C 16: 91,683,763 C243W probably damaging Het
Dpp8 A T 9: 65,078,679 N817I possibly damaging Het
Eef1d G A 15: 75,896,806 probably benign Het
Esf1 T A 2: 140,168,359 D19V probably damaging Het
Gm21738 T A 14: 19,415,957 Y194F probably benign Het
Gm21738 T C 14: 19,415,963 K192R probably benign Het
Gm9867 C A 4: 140,322,488 A128S unknown Het
Igsf23 G T 7: 19,941,737 probably benign Het
Kdm7a C A 6: 39,166,765 probably benign Het
Kif14 G A 1: 136,525,871 probably benign Het
Mroh7 T C 4: 106,680,793 N1229D possibly damaging Het
Mrps11 C A 7: 78,791,863 probably benign Het
Mtmr2 T A 9: 13,796,113 D248E probably damaging Het
Myrfl C A 10: 116,783,209 S748I probably benign Het
Nop14 T C 5: 34,650,520 E366G possibly damaging Het
Olfr225 C T 11: 59,613,654 T230I possibly damaging Het
Olfr273 T G 4: 52,855,764 I250L possibly damaging Het
Olfr618 A G 7: 103,598,131 I272V probably benign Het
Olfr873 T A 9: 20,300,565 C123S probably benign Het
Olfr971 C T 9: 39,840,283 P283L probably damaging Het
Phykpl G T 11: 51,585,539 E29* probably null Het
Plppr4 A G 3: 117,331,646 probably null Het
Prmt2 A C 10: 76,207,807 probably benign Het
Prodh2 T A 7: 30,494,224 Y114* probably null Het
Prr23a2 C A 9: 98,856,864 H92N probably damaging Het
Rasl10b G A 11: 83,417,839 probably null Het
Rdx C A 9: 52,065,817 A122E probably damaging Het
Rspo3 T G 10: 29,454,257 D236A unknown Het
Sdk2 A T 11: 113,832,258 D1302E probably damaging Het
Sipa1 A T 19: 5,660,354 D209E probably damaging Het
Sirpa T G 2: 129,627,936 probably benign Het
Ska1 A C 18: 74,197,499 probably benign Het
Slc4a9 T C 18: 36,535,278 probably benign Het
Slco1b2 T C 6: 141,685,446 V602A probably benign Het
Slco2a1 T C 9: 103,082,334 V543A probably damaging Het
Sorcs3 A T 19: 48,693,994 L489F probably damaging Het
Sorl1 T C 9: 42,071,069 probably benign Het
Spindoc G T 19: 7,374,735 N82K probably benign Het
Stk17b C A 1: 53,757,492 C372F probably damaging Het
Tbck A G 3: 132,722,291 probably benign Het
Thoc1 C T 18: 9,963,267 T127I probably benign Het
Togaram2 G T 17: 71,716,444 R765L probably damaging Het
Tprg A G 16: 25,317,469 Y70C probably damaging Het
Ugcg C T 4: 59,207,798 P46S probably benign Het
Umodl1 T C 17: 30,996,351 Y1050H probably damaging Het
Vmn1r205 T A 13: 22,592,416 D172V probably benign Het
Vmn1r79 A T 7: 12,177,063 N291Y probably damaging Het
Vmn2r112 T A 17: 22,614,999 N549K probably damaging Het
Vrk3 T A 7: 44,764,803 L241Q probably damaging Het
Zc3h7a A G 16: 11,151,880 S386P probably damaging Het
Other mutations in B4galt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:B4galt4 APN 16 38754144 missense probably damaging 1.00
IGL01414:B4galt4 APN 16 38757791 missense probably damaging 1.00
R2125:B4galt4 UTSW 16 38765938 missense probably damaging 0.99
R3950:B4galt4 UTSW 16 38768022 missense probably benign
R4334:B4galt4 UTSW 16 38752259 missense probably damaging 0.99
R4773:B4galt4 UTSW 16 38752296 missense probably benign 0.37
R6499:B4galt4 UTSW 16 38757822 missense probably benign 0.00
R6706:B4galt4 UTSW 16 38757811 missense probably benign 0.06
R7208:B4galt4 UTSW 16 38753940 missense probably damaging 1.00
R7500:B4galt4 UTSW 16 38768014 missense probably damaging 1.00
R7548:B4galt4 UTSW 16 38754066 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTATGAGAACACTTTGGGGCAGGAC -3'
(R):5'- TGGAATCCACCACTTCGCAGATG -3'

Sequencing Primer
(F):5'- CTTTGGGGCAGGACAGATAGC -3'
(R):5'- GGTACATTGCTGAAGTGAATCC -3'
Posted On2013-10-16