Incidental Mutation 'IGL02207:B4galt2'
ID284542
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B4galt2
Ensembl Gene ENSMUSG00000028541
Gene NameUDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.337) question?
Stock #IGL02207
Quality Score
Status
Chromosome4
Chromosomal Location117869260-117883487 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 117881521 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 33 (D33G)
Ref Sequence ENSEMBL: ENSMUSP00000128771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030266] [ENSMUST00000036380] [ENSMUST00000084325] [ENSMUST00000106421] [ENSMUST00000132073] [ENSMUST00000136596] [ENSMUST00000147845] [ENSMUST00000149868] [ENSMUST00000150204] [ENSMUST00000153358] [ENSMUST00000167443] [ENSMUST00000171548]
Predicted Effect probably damaging
Transcript: ENSMUST00000030266
AA Change: D33G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030266
Gene: ENSMUSG00000028541
AA Change: D33G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 228 4.2e-59 PFAM
Pfam:Glyco_transf_7C 232 310 2.1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036380
SMART Domains Protein: ENSMUSP00000047682
Gene: ENSMUSG00000033379

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:ATP-synt_C 50 112 1.2e-15 PFAM
Pfam:ATP-synt_C 136 198 1.8e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000084325
AA Change: D33G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541
AA Change: D33G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 230 1.9e-47 PFAM
Pfam:Glyco_transf_7C 232 310 2.6e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106421
AA Change: D33G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102029
Gene: ENSMUSG00000028541
AA Change: D33G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 230 1.9e-47 PFAM
Pfam:Glyco_transf_7C 232 310 2.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128263
Predicted Effect probably benign
Transcript: ENSMUST00000132073
SMART Domains Protein: ENSMUSP00000137654
Gene: ENSMUSG00000033379

DomainStartEndE-ValueType
Pfam:ATP-synt_C 2 67 1.4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133530
Predicted Effect probably benign
Transcript: ENSMUST00000136596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137016
Predicted Effect probably benign
Transcript: ENSMUST00000147845
Predicted Effect probably benign
Transcript: ENSMUST00000149868
SMART Domains Protein: ENSMUSP00000137788
Gene: ENSMUSG00000033379

DomainStartEndE-ValueType
Pfam:ATP-synt_C 2 67 3.1e-19 PFAM
transmembrane domain 84 106 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150204
SMART Domains Protein: ENSMUSP00000119988
Gene: ENSMUSG00000033379

DomainStartEndE-ValueType
Pfam:ATP-synt_C 2 67 8.2e-19 PFAM
Pfam:ATP-synt_C 88 152 1.4e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152356
Predicted Effect probably damaging
Transcript: ENSMUST00000153358
AA Change: D33G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120571
Gene: ENSMUSG00000028541
AA Change: D33G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 197 9.5e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167443
AA Change: D33G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128771
Gene: ENSMUSG00000028541
AA Change: D33G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 188 1.1e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171548
AA Change: D33G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126539
Gene: ENSMUSG00000028541
AA Change: D33G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
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 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 synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased brain weight, ectopic Purkinje cells in the cerebellum, and impaired spatial learning and coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110034G24Rik A T 2: 132,691,946 probably benign Het
Adamtsl2 A G 2: 27,102,981 E702G probably damaging Het
Adgre5 T C 8: 83,728,284 T260A probably damaging Het
Agap3 A T 5: 24,499,936 T660S probably benign Het
Amotl2 A T 9: 102,724,697 E380V probably damaging Het
Ap4e1 A G 2: 127,011,816 E58G probably damaging Het
Arap3 G A 18: 37,987,853 A713V probably benign Het
Bbs7 A T 3: 36,604,490 S212T probably benign Het
Ccl26 A G 5: 135,563,370 Y38H probably benign Het
Ccne2 A T 4: 11,202,261 S339C probably benign Het
Cd55 A G 1: 130,452,419 V274A possibly damaging Het
Cenpw T G 10: 30,198,581 probably null Het
Chrnb4 T C 9: 55,035,216 D258G probably damaging Het
Col4a3bp T C 13: 96,624,792 probably null Het
Commd3 T C 2: 18,674,008 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2b23 C A 7: 26,681,755 R59L probably damaging Het
Edar G T 10: 58,610,521 T194K probably damaging Het
Edem3 A G 1: 151,808,360 I733V possibly damaging Het
Elmod2 T C 8: 83,321,506 Y109C probably benign Het
Eps15 C T 4: 109,304,748 probably benign Het
Fat4 T C 3: 38,951,263 V1937A probably benign Het
Fdx1l T A 9: 21,068,119 probably null Het
Flg2 A T 3: 93,220,128 I2116F unknown Het
Gm15091 A G X: 149,977,466 D424G possibly damaging Het
Gm16380 T A 9: 53,884,539 noncoding transcript Het
Gm6614 A T 6: 141,990,432 I309N possibly damaging Het
Gpn2 G A 4: 133,584,636 V60M possibly damaging Het
Grip1 G A 10: 120,075,309 R1044K probably damaging Het
H2-D1 T A 17: 35,263,414 S37T possibly damaging Het
Havcr1 C T 11: 46,778,576 A294V probably benign Het
Herc4 G A 10: 63,299,244 probably null Het
Ift140 A G 17: 25,055,598 Y748C probably benign Het
Il20ra A G 10: 19,751,578 T242A probably damaging Het
Ilvbl G A 10: 78,583,702 probably null Het
Kif18a A T 2: 109,296,707 I329L probably damaging Het
Kmt2a T A 9: 44,847,682 I957F probably damaging Het
Krt1 A G 15: 101,848,616 I282T possibly damaging Het
Lamb1 T G 12: 31,329,435 V1768G probably damaging Het
Nek9 A T 12: 85,303,483 L939* probably null Het
Nfe2l2 A G 2: 75,678,525 L122P probably damaging Het
Nin T C 12: 70,056,657 M270V probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Nrde2 T C 12: 100,130,931 Y870C probably benign Het
Nsmce2 A G 15: 59,416,078 M71V probably benign Het
Ocstamp T C 2: 165,397,663 H201R possibly damaging Het
Olfr1126 A G 2: 87,457,450 D95G probably benign Het
Olfr744 G A 14: 50,618,558 G112D probably damaging Het
Oog4 T C 4: 143,438,940 I212M probably benign Het
Osmr T C 15: 6,847,147 T99A probably benign Het
Pdia4 A T 6: 47,796,807 M536K probably benign Het
Pdyn A T 2: 129,688,518 L77H probably damaging Het
Pikfyve T C 1: 65,251,678 probably null Het
Plcb1 A G 2: 135,387,171 E1105G probably damaging Het
Rb1 A T 14: 73,206,085 D743E probably damaging Het
Rdh14 G A 12: 10,394,712 V188I possibly damaging Het
Scd3 T C 19: 44,215,589 V72A possibly damaging Het
Slc25a27 G A 17: 43,661,684 R104W probably damaging Het
Slc29a4 A G 5: 142,718,885 D394G possibly damaging Het
Snx29 T G 16: 11,738,352 M407R probably damaging Het
Syf2 A G 4: 134,935,052 probably null Het
Syn1 T C X: 20,865,137 Q321R probably benign Het
Tbc1d12 A T 19: 38,916,647 D602V probably damaging Het
Tenm4 A T 7: 96,874,116 I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 probably benign Het
Trav6-2 G A 14: 52,667,432 V8M possibly damaging Het
Unc119b A G 5: 115,134,754 S53P probably benign Het
Vmp1 T A 11: 86,607,193 I299F possibly damaging Het
Xpot T C 10: 121,613,580 Y194C probably damaging Het
Zbtb10 T A 3: 9,280,465 probably null Het
Other mutations in B4galt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:B4galt2 APN 4 117877181 missense probably damaging 0.99
IGL02224:B4galt2 APN 4 117876913 missense probably benign 0.00
IGL02724:B4galt2 APN 4 117876878 critical splice donor site probably null
IGL02949:B4galt2 APN 4 117881405 missense probably benign 0.05
R1164:B4galt2 UTSW 4 117876944 missense possibly damaging 0.96
R1534:B4galt2 UTSW 4 117877472 missense probably damaging 1.00
R4715:B4galt2 UTSW 4 117877179 missense possibly damaging 0.92
R5640:B4galt2 UTSW 4 117873998 missense probably benign
R6492:B4galt2 UTSW 4 117876967 missense probably damaging 0.99
R6974:B4galt2 UTSW 4 117873951 missense probably damaging 0.98
R7126:B4galt2 UTSW 4 117877538 missense probably damaging 1.00
Z1177:B4galt2 UTSW 4 117881069 missense probably benign 0.02
Posted On2015-04-16