Incidental Mutation 'R7200:B4galt7'
ID 560251
Institutional Source Beutler Lab
Gene Symbol B4galt7
Ensembl Gene ENSMUSG00000021504
Gene Name beta-1,4-galactosyltransferase 7
Synonyms
MMRRC Submission 045278-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.424) question?
Stock # R7200 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 55747709-55758256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55756155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 214 (C214R)
Ref Sequence ENSEMBL: ENSMUSP00000068532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064701] [ENSMUST00000100764] [ENSMUST00000133176]
AlphaFold Q8R087
Predicted Effect probably damaging
Transcript: ENSMUST00000064701
AA Change: C214R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068532
Gene: ENSMUSG00000021504
AA Change: C214R

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
transmembrane domain 29 51 N/A INTRINSIC
Pfam:Glyco_transf_7N 62 177 8.5e-27 PFAM
Pfam:Glyco_transf_7C 181 260 2.6e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100764
AA Change: C214R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000098327
Gene: ENSMUSG00000021504
AA Change: C214R

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
transmembrane domain 29 51 N/A INTRINSIC
Pfam:Glyco_transf_7N 72 180 9.2e-29 PFAM
Pfam:Glyco_transf_7C 181 263 1.3e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133176
AA Change: C158R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123292
Gene: ENSMUSG00000021504
AA Change: C158R

DomainStartEndE-ValueType
Pfam:Glyco_transf_7N 18 124 1.1e-28 PFAM
Pfam:Glyco_transf_7C 125 204 5e-29 PFAM
Meta Mutation Damage Score 0.6880 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency
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-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member 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 which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A G 11: 65,043,836 (GRCm39) M75T unknown Het
2700049A03Rik T G 12: 71,187,680 (GRCm39) N105K probably damaging Het
Acvr1c A T 2: 58,205,867 (GRCm39) V31E probably damaging Het
Adra1d T A 2: 131,403,170 (GRCm39) T307S probably benign Het
Akr1c14 T C 13: 4,131,051 (GRCm39) Y248H probably benign Het
Ankub1 T C 3: 57,580,406 (GRCm39) T84A probably benign Het
Asb3 C A 11: 30,948,348 (GRCm39) S8* probably null Het
AU041133 G A 10: 81,986,935 (GRCm39) G196D possibly damaging Het
Chd3 A G 11: 69,254,921 (GRCm39) S140P possibly damaging Het
Ciz1 T C 2: 32,254,299 (GRCm39) L80P probably damaging Het
Col6a4 G A 9: 105,949,448 (GRCm39) P729L possibly damaging Het
Cr2 A G 1: 194,845,557 (GRCm39) C133R probably damaging Het
Dmgdh T C 13: 93,828,393 (GRCm39) L178P probably damaging Het
Dock5 C A 14: 68,009,151 (GRCm39) E1448* probably null Het
Elavl1 A G 8: 4,361,767 (GRCm39) S2P probably benign Het
Flywch1 T C 17: 23,980,033 (GRCm39) H247R possibly damaging Het
Gabpb1 A T 2: 126,481,222 (GRCm39) I309N possibly damaging Het
Glrx3 T C 7: 137,066,165 (GRCm39) F298L possibly damaging Het
Gpc6 G A 14: 118,202,268 (GRCm39) V493I probably benign Het
H2-T13 A T 17: 36,391,938 (GRCm39) I45N possibly damaging Het
Hadha C T 5: 30,350,315 (GRCm39) E78K probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Ldlrad3 G T 2: 101,943,903 (GRCm39) F56L probably damaging Het
Ldlrad3 A G 2: 101,943,905 (GRCm39) F56L probably damaging Het
Mapk4 A T 18: 74,063,990 (GRCm39) S411T possibly damaging Het
Mcm9 A G 10: 53,492,019 (GRCm39) M382T Het
Muc21 TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT TCCTGAGGCAGTGCTGGAT 17: 35,933,525 (GRCm39) probably benign Het
Or2t6 A T 14: 14,175,477 (GRCm38) C202S probably damaging Het
Or5b104 T C 19: 13,072,596 (GRCm39) T139A probably benign Het
Pacs1 A C 19: 5,206,441 (GRCm39) I248S possibly damaging Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Plekhg1 T C 10: 3,906,810 (GRCm39) S631P Het
Rars2 A T 4: 34,645,747 (GRCm39) K221N probably benign Het
Retsat T C 6: 72,583,002 (GRCm39) S388P possibly damaging Het
Rft1 G A 14: 30,404,814 (GRCm39) probably null Het
Rgsl1 A G 1: 153,660,945 (GRCm39) V345A probably benign Het
Rnf38 A T 4: 44,137,620 (GRCm39) S320R probably benign Het
Sel1l3 T A 5: 53,301,451 (GRCm39) Y722F probably benign Het
Slc13a4 T C 6: 35,264,285 (GRCm39) E194G possibly damaging Het
Spata17 G A 1: 186,844,700 (GRCm39) R300C probably benign Het
Tacc1 G A 8: 25,731,656 (GRCm39) probably benign Het
Tc2n T G 12: 101,655,314 (GRCm39) I214L probably damaging Het
Tet2 T C 3: 133,192,953 (GRCm39) S494G probably benign Het
Tmco5b A T 2: 113,121,722 (GRCm39) I179L probably damaging Het
Triobp AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA AGGGACAA 15: 78,851,042 (GRCm39) probably benign Het
Trpv1 A G 11: 73,130,412 (GRCm39) T173A probably damaging Het
Vmn2r56 C T 7: 12,444,259 (GRCm39) G458R probably damaging Het
Vmn2r81 T G 10: 79,106,570 (GRCm39) probably null Het
Wfdc15b T A 2: 164,057,037 (GRCm39) E80D probably benign Het
Wrn A T 8: 33,812,376 (GRCm39) D423E probably benign Het
Zfp775 T A 6: 48,597,415 (GRCm39) C430S possibly damaging Het
Other mutations in B4galt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00797:B4galt7 APN 13 55,755,006 (GRCm39) splice site probably benign
IGL01515:B4galt7 APN 13 55,757,035 (GRCm39) missense probably damaging 0.99
IGL03384:B4galt7 APN 13 55,757,102 (GRCm39) missense probably damaging 1.00
R4063:B4galt7 UTSW 13 55,756,152 (GRCm39) splice site probably null
R4633:B4galt7 UTSW 13 55,756,563 (GRCm39) missense probably damaging 1.00
R4638:B4galt7 UTSW 13 55,747,959 (GRCm39) unclassified probably benign
R4660:B4galt7 UTSW 13 55,752,111 (GRCm39) missense possibly damaging 0.54
R4672:B4galt7 UTSW 13 55,757,132 (GRCm39) missense probably damaging 1.00
R4824:B4galt7 UTSW 13 55,752,162 (GRCm39) missense possibly damaging 0.87
R8427:B4galt7 UTSW 13 55,757,138 (GRCm39) missense possibly damaging 0.93
R9645:B4galt7 UTSW 13 55,756,556 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGCATTTGCACTACAGAAG -3'
(R):5'- CATACATCCGGTCAAATGAGGC -3'

Sequencing Primer
(F):5'- GTGAAGGGACCTTGCAGCAC -3'
(R):5'- TCAAATGAGGCCCAGGAGTC -3'
Posted On 2019-06-26