Incidental Mutation 'R6818:B3gat1'
ID 537431
Institutional Source Beutler Lab
Gene Symbol B3gat1
Ensembl Gene ENSMUSG00000045994
Gene Name beta-1,3-glucuronyltransferase 1
Synonyms 0710007K08Rik, GlcAT-P
MMRRC Submission 044930-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R6818 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 26644813-26672646 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to T at 26662998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115269] [ENSMUST00000159799] [ENSMUST00000160899] [ENSMUST00000161115] [ENSMUST00000161431]
AlphaFold Q9CW73
Predicted Effect probably benign
Transcript: ENSMUST00000115269
SMART Domains Protein: ENSMUSP00000110924
Gene: ENSMUSG00000045994

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
Pfam:Glyco_transf_43 118 329 6.6e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159799
SMART Domains Protein: ENSMUSP00000124438
Gene: ENSMUSG00000045994

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
SMART Domains Protein: ENSMUSP00000124067
Gene: ENSMUSG00000045994

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
Pfam:Glyco_transf_43 118 328 1.7e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161115
SMART Domains Protein: ENSMUSP00000125700
Gene: ENSMUSG00000045994

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:Glyco_transf_43 105 316 3.7e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161431
SMART Domains Protein: ENSMUSP00000124752
Gene: ENSMUSG00000045994

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:Glyco_transf_43 105 202 1.9e-34 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 97% (59/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,865,089 (GRCm39) probably null Het
Acot4 A C 12: 84,088,783 (GRCm39) E210D probably damaging Het
Adamts9 A C 6: 92,882,172 (GRCm39) S476A probably damaging Het
Ajm1 C CTCTA 2: 25,469,733 (GRCm39) probably null Het
Ak1 T A 2: 32,520,385 (GRCm39) M61K probably damaging Het
Ambp G T 4: 63,072,243 (GRCm39) S17* probably null Het
Anxa6 T A 11: 54,870,326 (GRCm39) M662L probably benign Het
Atp11b T C 3: 35,868,329 (GRCm39) I467T possibly damaging Het
Bccip T G 7: 133,319,488 (GRCm39) I193S probably damaging Het
Ccdc170 A G 10: 4,491,782 (GRCm39) E401G probably damaging Het
Cldn16 A G 16: 26,296,257 (GRCm39) T78A probably damaging Het
Cldn24 G T 8: 48,275,757 (GRCm39) A194S probably benign Het
Cltc A G 11: 86,595,054 (GRCm39) V1348A possibly damaging Het
Clvs1 T C 4: 9,282,014 (GRCm39) probably null Het
Csmd1 C T 8: 16,235,341 (GRCm39) D1161N probably damaging Het
Cuzd1 A G 7: 130,918,394 (GRCm39) V181A probably damaging Het
Dhx30 A G 9: 109,917,099 (GRCm39) I435T probably damaging Het
Dip2b T C 15: 100,091,835 (GRCm39) V858A probably benign Het
Dnmt3b C T 2: 153,528,204 (GRCm39) T822M probably damaging Het
Dock10 A T 1: 80,593,082 (GRCm39) F97I possibly damaging Het
Dock8 T C 19: 25,146,865 (GRCm39) probably null Het
Dvl2 T C 11: 69,900,099 (GRCm39) L631P probably damaging Het
Faf2 T A 13: 54,789,419 (GRCm39) probably null Het
Fat2 T A 11: 55,200,167 (GRCm39) H969L probably benign Het
Fsip2 T A 2: 82,815,544 (GRCm39) V3759E probably benign Het
Gm10985 A C 3: 53,752,674 (GRCm39) Y19S probably damaging Het
Gm973 T C 1: 59,669,328 (GRCm39) L793P probably damaging Het
H2-M1 A G 17: 36,981,327 (GRCm39) I236T probably damaging Het
Hif1a A T 12: 73,992,337 (GRCm39) R765* probably null Het
Htt A G 5: 34,940,111 (GRCm39) K77E probably damaging Het
Ift172 G T 5: 31,423,304 (GRCm39) Q826K probably benign Het
Inafm1 C T 7: 16,007,086 (GRCm39) A44T probably damaging Het
Kctd4 A G 14: 76,200,748 (GRCm39) T240A probably damaging Het
Klk1 A T 7: 43,878,883 (GRCm39) I124F probably damaging Het
Krbox5 A G 13: 67,981,986 (GRCm39) Q66R possibly damaging Het
Kremen1 T C 11: 5,145,051 (GRCm39) T442A probably benign Het
Mei4 T A 9: 81,907,574 (GRCm39) D202E probably benign Het
Mest T A 6: 30,746,286 (GRCm39) D284E probably damaging Het
Nsfl1c T A 2: 151,344,940 (GRCm39) Y95* probably null Het
Or10al5 T A 17: 38,063,315 (GRCm39) V190D possibly damaging Het
Or10am5 T C 7: 6,517,550 (GRCm39) M293V probably damaging Het
Or2ak4 T A 11: 58,648,783 (GRCm39) C97* probably null Het
Or4k38 T G 2: 111,165,659 (GRCm39) I255L probably benign Het
Pgm1 T A 4: 99,820,763 (GRCm39) I220N probably damaging Het
Pirt T A 11: 66,816,719 (GRCm39) V10E possibly damaging Het
Prl7d1 C A 13: 27,898,454 (GRCm39) M19I probably benign Het
Samhd1 T C 2: 156,949,417 (GRCm39) N490D probably benign Het
Scn2a C A 2: 65,519,013 (GRCm39) S413* probably null Het
Serpinb6e A T 13: 34,016,337 (GRCm39) probably null Het
Slitrk5 A G 14: 111,917,726 (GRCm39) D450G probably benign Het
Tchh A G 3: 93,350,718 (GRCm39) T53A probably damaging Het
Tmem44 A T 16: 30,362,039 (GRCm39) probably null Het
Tpm3-rs7 A G 14: 113,552,448 (GRCm39) E114G possibly damaging Het
Treml2 A G 17: 48,609,925 (GRCm39) Y119C probably damaging Het
Ubxn1 T A 19: 8,851,245 (GRCm39) probably null Het
Vmn2r84 A T 10: 130,222,147 (GRCm39) M691K probably benign Het
Vmn2r97 A T 17: 19,168,193 (GRCm39) I816F possibly damaging Het
Was GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC X: 7,952,450 (GRCm39) probably benign Het
Wfdc2 T C 2: 164,405,070 (GRCm39) probably null Het
Zscan4-ps3 T C 7: 11,346,986 (GRCm39) S341P probably damaging Het
Other mutations in B3gat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:B3gat1 APN 9 26,667,206 (GRCm39) missense possibly damaging 0.88
IGL01357:B3gat1 APN 9 26,668,283 (GRCm39) missense probably damaging 1.00
IGL02140:B3gat1 APN 9 26,669,043 (GRCm39) missense possibly damaging 0.63
R0098:B3gat1 UTSW 9 26,668,237 (GRCm39) missense probably damaging 1.00
R0098:B3gat1 UTSW 9 26,668,237 (GRCm39) missense probably damaging 1.00
R0234:B3gat1 UTSW 9 26,667,377 (GRCm39) missense probably damaging 0.99
R0234:B3gat1 UTSW 9 26,667,377 (GRCm39) missense probably damaging 0.99
R0944:B3gat1 UTSW 9 26,668,237 (GRCm39) missense probably damaging 1.00
R1608:B3gat1 UTSW 9 26,663,112 (GRCm39) missense probably damaging 1.00
R1957:B3gat1 UTSW 9 26,667,248 (GRCm39) missense possibly damaging 0.86
R3401:B3gat1 UTSW 9 26,667,149 (GRCm39) missense probably damaging 1.00
R3956:B3gat1 UTSW 9 26,668,324 (GRCm39) missense possibly damaging 0.49
R4669:B3gat1 UTSW 9 26,663,052 (GRCm39) missense probably benign 0.37
R4803:B3gat1 UTSW 9 26,666,986 (GRCm39) missense probably benign 0.01
R4942:B3gat1 UTSW 9 26,666,894 (GRCm39) missense probably benign 0.00
R7912:B3gat1 UTSW 9 26,666,882 (GRCm39) missense probably benign 0.00
R8217:B3gat1 UTSW 9 26,668,165 (GRCm39) missense probably damaging 1.00
R9023:B3gat1 UTSW 9 26,663,069 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CAACTTCTGAAGGCTCCTGACC -3'
(R):5'- ATTACCAAAGCCAGGACAGG -3'

Sequencing Primer
(F):5'- GACCTTGCCCTGGACTACTG -3'
(R):5'- CTTGTGCACAGCAAGCAG -3'
Posted On 2018-10-18