Incidental Mutation 'IGL02140:B3gat1'
ID281514
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3gat1
Ensembl Gene ENSMUSG00000045994
Gene Namebeta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)
SynonymsGlcAT-P, 0710007K08Rik
Accession Numbers

Genbank: NM_029792; MGI: 1924148

Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #IGL02140
Quality Score
Status
Chromosome9
Chromosomal Location26733728-26763101 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 26757747 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 325 (K325E)
Ref Sequence ENSEMBL: ENSMUSP00000124752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115269] [ENSMUST00000159799] [ENSMUST00000160899] [ENSMUST00000161115] [ENSMUST00000161431]
Predicted Effect probably benign
Transcript: ENSMUST00000115269
AA Change: K338E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000110924
Gene: ENSMUSG00000045994
AA Change: K338E

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
Pfam:Glyco_transf_43 118 329 6.6e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159527
SMART Domains Protein: ENSMUSP00000125401
Gene: ENSMUSG00000045994

DomainStartEndE-ValueType
Pfam:Glyco_transf_43 48 259 2.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159799
AA Change: K338E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000124438
Gene: ENSMUSG00000045994
AA Change: K338E

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
Pfam:Glyco_transf_43 118 329 6.6e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160899
AA Change: K338E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000124067
Gene: ENSMUSG00000045994
AA Change: K338E

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
Pfam:Glyco_transf_43 118 328 1.7e-77 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000161115
AA Change: K325E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125700
Gene: ENSMUSG00000045994
AA Change: K325E

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:Glyco_transf_43 105 316 3.7e-85 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000161431
AA Change: K325E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124752
Gene: ENSMUSG00000045994
AA Change: K325E

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:Glyco_transf_43 105 202 1.9e-34 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced long term potentiation and impaired spatial learning. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,148,260 V144I probably benign Het
Cd36 T A 5: 17,828,768 probably benign Het
Ces3a A G 8: 105,055,631 E325G probably benign Het
Col1a2 G A 6: 4,515,639 G136D unknown Het
Cyp3a25 T G 5: 146,009,463 probably benign Het
Cyp3a59 T C 5: 146,102,880 L321P probably damaging Het
Dag1 A G 9: 108,218,192 S34P probably damaging Het
Defa27 A T 8: 21,315,658 K13* probably null Het
Disp2 T C 2: 118,790,869 F694S probably benign Het
Dnah12 G T 14: 26,716,577 A454S probably benign Het
Dync2h1 A T 9: 7,147,791 D946E probably benign Het
Fcgbp A G 7: 28,091,954 E880G probably damaging Het
Fgfr4 T C 13: 55,161,179 V371A probably benign Het
Frem3 G T 8: 80,614,107 V1010F possibly damaging Het
Gm13283 G A 4: 88,761,035 V88I probably benign Het
Gm5134 G A 10: 75,986,111 V260I probably benign Het
Grhl2 A G 15: 37,270,586 probably benign Het
Hectd1 A T 12: 51,774,137 W1090R probably damaging Het
Hydin G A 8: 110,566,938 V3506I probably benign Het
Igkc C T 6: 70,726,575 R47* probably null Het
Iglv3 T A 16: 19,241,410 Q56L probably damaging Het
Impg2 T A 16: 56,259,468 M436K probably benign Het
Kcnma1 T A 14: 23,309,045 K1110N probably damaging Het
Marf1 T C 16: 14,141,912 E694G probably damaging Het
Nup37 A C 10: 88,158,929 K118T probably benign Het
Olfr1246 T C 2: 89,590,242 E291G probably damaging Het
Olfr129 A G 17: 38,055,590 M1T probably null Het
P3h1 A G 4: 119,237,865 D273G probably damaging Het
Pcsk9 T C 4: 106,454,646 D178G probably benign Het
Phyhipl T C 10: 70,570,830 K53R probably damaging Het
Pkp3 T G 7: 141,089,336 L697R probably damaging Het
Rab11fip3 A G 17: 26,067,892 V429A probably benign Het
Rgl2 A G 17: 33,933,124 N295S probably damaging Het
Spag5 A T 11: 78,315,633 D817V possibly damaging Het
Tas2r117 C A 6: 132,803,595 T232K probably benign Het
Thumpd1 A G 7: 119,717,009 V239A possibly damaging Het
Timd4 T A 11: 46,820,014 S248T possibly damaging Het
Tmem207 A T 16: 26,516,740 N82K probably benign Het
Ttn T A 2: 76,708,213 T34714S possibly damaging Het
Vmn1r194 G A 13: 22,244,536 V108I probably benign Het
Vmn2r24 T A 6: 123,780,672 S166R probably damaging Het
Vmn2r32 A G 7: 7,476,697 F159S probably damaging Het
Wdr72 A T 9: 74,210,223 Q739L probably benign Het
Other mutations in B3gat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:B3gat1 APN 9 26755910 missense possibly damaging 0.88
IGL01357:B3gat1 APN 9 26756987 missense probably damaging 1.00
R0098:B3gat1 UTSW 9 26756941 missense probably damaging 1.00
R0098:B3gat1 UTSW 9 26756941 missense probably damaging 1.00
R0234:B3gat1 UTSW 9 26756081 missense probably damaging 0.99
R0234:B3gat1 UTSW 9 26756081 missense probably damaging 0.99
R0944:B3gat1 UTSW 9 26756941 missense probably damaging 1.00
R1608:B3gat1 UTSW 9 26751816 missense probably damaging 1.00
R1957:B3gat1 UTSW 9 26755952 missense possibly damaging 0.86
R3401:B3gat1 UTSW 9 26755853 missense probably damaging 1.00
R3956:B3gat1 UTSW 9 26757028 missense possibly damaging 0.49
R4669:B3gat1 UTSW 9 26751756 missense probably benign 0.37
R4803:B3gat1 UTSW 9 26755690 missense probably benign 0.01
R4942:B3gat1 UTSW 9 26755598 missense probably benign 0.00
R6818:B3gat1 UTSW 9 26751702 start gained probably benign
R7912:B3gat1 UTSW 9 26755586 missense probably benign 0.00
R8217:B3gat1 UTSW 9 26756869 missense probably damaging 1.00
Posted On2015-04-16