Incidental Mutation 'IGL01515:B4galt7'
ID 89354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B4galt7
Ensembl Gene ENSMUSG00000021504
Gene Name beta-1,4-galactosyltransferase 7
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.491) question?
Stock # IGL01515
Quality Score
Status
Chromosome 13
Chromosomal Location 55747709-55758256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 55757035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 243 (Q243K)
Ref Sequence ENSEMBL: ENSMUSP00000098327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064701] [ENSMUST00000100764] [ENSMUST00000133176]
AlphaFold Q8R087
Predicted Effect probably benign
Transcript: ENSMUST00000064701
AA Change: Q278K

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000068532
Gene: ENSMUSG00000021504
AA Change: Q278K

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: Q243K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098327
Gene: ENSMUSG00000021504
AA Change: Q243K

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 benign
Transcript: ENSMUST00000133176
SMART Domains Protein: ENSMUSP00000123292
Gene: ENSMUSG00000021504

DomainStartEndE-ValueType
Pfam:Glyco_transf_7N 18 124 1.1e-28 PFAM
Pfam:Glyco_transf_7C 125 204 5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142654
Coding Region Coverage
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,047,289 (GRCm39) V588E probably damaging Het
Ar C T X: 97,295,453 (GRCm39) probably benign Het
Cdhr2 A T 13: 54,866,051 (GRCm39) T284S probably benign Het
Chdh G A 14: 29,758,843 (GRCm39) R596H probably damaging Het
Cyp2r1 T C 7: 114,151,947 (GRCm39) probably benign Het
Cyp3a44 A T 5: 145,736,228 (GRCm39) L74* probably null Het
Dnah8 A T 17: 30,867,459 (GRCm39) I304L probably benign Het
Fam171b G A 2: 83,710,577 (GRCm39) E750K probably damaging Het
Fbxo38 T A 18: 62,651,642 (GRCm39) E554D probably benign Het
Fnd3c2 T C X: 105,282,093 (GRCm39) K721E probably damaging Het
Gpam A G 19: 55,075,883 (GRCm39) L243P probably damaging Het
Heph A G X: 95,601,706 (GRCm39) E1032G probably damaging Het
Igf1r T A 7: 67,857,200 (GRCm39) V1054E probably damaging Het
Inpp4b A G 8: 82,679,340 (GRCm39) S331G possibly damaging Het
Ints11 A T 4: 155,959,689 (GRCm39) I99F probably damaging Het
Jak3 G A 8: 72,133,206 (GRCm39) probably null Het
Ky A G 9: 102,419,304 (GRCm39) Y437C probably benign Het
Lin28a A G 4: 133,746,020 (GRCm39) probably null Het
Macc1 A C 12: 119,414,106 (GRCm39) K761Q probably damaging Het
Myom2 A G 8: 15,172,655 (GRCm39) D1194G probably benign Het
Naga C A 15: 82,214,360 (GRCm39) V384F probably benign Het
Necab3 A T 2: 154,396,611 (GRCm39) S72T probably damaging Het
Or4a27 G A 2: 88,559,352 (GRCm39) T197I probably benign Het
Or51i2 A G 7: 103,689,183 (GRCm39) Y60C probably benign Het
Ptpn13 C T 5: 103,703,979 (GRCm39) S1337L probably benign Het
Slitrk2 C T X: 65,699,248 (GRCm39) P580S probably damaging Het
Tpsg1 A G 17: 25,592,936 (GRCm39) D67G probably damaging Het
Tsc22d1 T C 14: 76,742,739 (GRCm39) probably null Het
Other mutations in B4galt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00797:B4galt7 APN 13 55,755,006 (GRCm39) splice site probably benign
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
R7200:B4galt7 UTSW 13 55,756,155 (GRCm39) missense probably damaging 0.99
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
Posted On 2013-12-03