Incidental Mutation 'R3401:B3gat1'
ID 259192
Institutional Source Beutler Lab
Gene Symbol B3gat1
Ensembl Gene ENSMUSG00000045994
Gene Name beta-1,3-glucuronyltransferase 1
Synonyms 0710007K08Rik, GlcAT-P
MMRRC Submission 040620-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R3401 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 26644813-26672646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 26667149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 127 (T127K)
Ref Sequence ENSEMBL: ENSMUSP00000124752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115269] [ENSMUST00000159799] [ENSMUST00000160899] [ENSMUST00000161115] [ENSMUST00000161431]
AlphaFold Q9CW73
Predicted Effect probably damaging
Transcript: ENSMUST00000115269
AA Change: T140K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110924
Gene: ENSMUSG00000045994
AA Change: T140K

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 damaging
Transcript: ENSMUST00000159799
AA Change: T140K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124438
Gene: ENSMUSG00000045994
AA Change: T140K

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
Pfam:Glyco_transf_43 118 329 6.6e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160899
AA Change: T140K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124067
Gene: ENSMUSG00000045994
AA Change: T140K

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
Pfam:Glyco_transf_43 118 328 1.7e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161115
AA Change: T127K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125700
Gene: ENSMUSG00000045994
AA Change: T127K

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:Glyco_transf_43 105 316 3.7e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161431
AA Change: T127K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124752
Gene: ENSMUSG00000045994
AA Change: T127K

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:Glyco_transf_43 105 202 1.9e-34 PFAM
Meta Mutation Damage Score 0.6645 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (30/30)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cactin G A 10: 81,161,709 (GRCm39) R747H probably benign Het
Cul5 A T 9: 53,532,512 (GRCm39) M747K probably benign Het
Dennd4c C T 4: 86,692,780 (GRCm39) P97S probably damaging Het
Dnah3 A G 7: 119,566,879 (GRCm39) V2449A probably benign Het
Eif1ad T C 19: 5,418,276 (GRCm39) V20A probably benign Het
Faim2 C T 15: 99,418,229 (GRCm39) V119I probably damaging Het
Fli1 G A 9: 32,372,570 (GRCm39) S156L probably damaging Het
Gucy1a2 T A 9: 3,635,154 (GRCm39) D399E probably benign Het
Hip1r A G 5: 124,135,046 (GRCm39) E394G probably damaging Het
Htr2a T C 14: 74,882,499 (GRCm39) S162P probably damaging Het
Naip5 G A 13: 100,358,411 (GRCm39) Q942* probably null Het
Ndrg3 C T 2: 156,790,208 (GRCm39) V92M probably damaging Het
Nlrp4d A T 7: 10,096,781 (GRCm39) N906K probably damaging Het
Pkd2 A G 5: 104,628,193 (GRCm39) I422M possibly damaging Het
Polr3b C T 10: 84,535,355 (GRCm39) T888M probably damaging Het
Ppp1r37 C T 7: 19,266,712 (GRCm39) A392T probably damaging Het
Ralgapa1 T C 12: 55,705,922 (GRCm39) T2323A possibly damaging Het
Sntg2 A G 12: 30,338,171 (GRCm39) probably benign Het
Stard9 A G 2: 120,534,170 (GRCm39) I3476V probably damaging Het
Tead2 T A 7: 44,873,097 (GRCm39) probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tmem74 C T 15: 43,730,417 (GRCm39) V209M probably damaging Het
Trim25 T C 11: 88,901,707 (GRCm39) M334T probably benign Het
Uprt A G X: 103,549,864 (GRCm39) D310G probably damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Zfp157 T A 5: 138,455,273 (GRCm39) N490K probably benign Het
Zhx1 T C 15: 57,917,745 (GRCm39) E167G probably benign 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
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
R6818:B3gat1 UTSW 9 26,662,998 (GRCm39) start gained probably benign
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'- CGCACAGAGTACGTGTACAC -3'
(R):5'- TGTACGTGTTGTCATCATCCG -3'

Sequencing Primer
(F):5'- TGTACACGAGGCCGCCAC -3'
(R):5'- GTGTTGTCATCATCCGCGAAGTAC -3'
Posted On 2015-01-23