Incidental Mutation 'R0370:B3gntl1'
ID30439
Institutional Source Beutler Lab
Gene Symbol B3gntl1
Ensembl Gene ENSMUSG00000046605
Gene NameUDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1
Synonyms
MMRRC Submission 038576-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #R0370 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location121616197-121673153 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 121624154 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 263 (W263R)
Ref Sequence ENSEMBL: ENSMUSP00000068590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062654] [ENSMUST00000067399]
Predicted Effect probably benign
Transcript: ENSMUST00000062654
SMART Domains Protein: ENSMUSP00000049890
Gene: ENSMUSG00000046605

DomainStartEndE-ValueType
Pfam:Glyco_tranf_2_3 14 244 3e-13 PFAM
Pfam:Glycos_transf_2 17 189 2.2e-24 PFAM
Pfam:Glyco_tranf_2_2 17 237 9.5e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000067399
AA Change: W263R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068590
Gene: ENSMUSG00000046605
AA Change: W263R

DomainStartEndE-ValueType
Pfam:Glyco_tranf_2_3 14 245 1.4e-10 PFAM
Pfam:Glycos_transf_2 17 189 1.2e-23 PFAM
Pfam:Glyco_tranf_2_2 17 248 2.1e-8 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 T C 8: 123,501,554 S666P probably damaging Het
Carmil3 A G 14: 55,495,442 N270S possibly damaging Het
Ctdp1 T C 18: 80,449,354 E642G probably damaging Het
Cyp2b9 A T 7: 26,210,106 K433M probably damaging Het
Dcc A G 18: 71,587,985 V435A possibly damaging Het
Defa26 A T 8: 21,618,859 M87L probably benign Het
Dnah11 T A 12: 117,995,227 I2974L probably benign Het
Dnah3 T C 7: 120,086,720 D131G possibly damaging Het
Dock6 A T 9: 21,814,565 S1447R probably benign Het
Dtl G T 1: 191,575,350 N17K probably benign Het
Grid2 A G 6: 64,345,734 I573V possibly damaging Het
Hoxa9 T C 6: 52,225,704 E134G possibly damaging Het
Kcnn3 A T 3: 89,667,092 N637I probably damaging Het
Ktn1 T C 14: 47,664,075 F97L probably benign Het
Lmbrd2 T C 15: 9,165,852 I271T probably damaging Het
Lrp6 A C 6: 134,479,766 I845S probably damaging Het
Med13l T A 5: 118,741,826 N994K probably benign Het
Mrrf A T 2: 36,177,113 probably null Het
Mtmr1 G A X: 71,388,231 V125I probably damaging Het
Nol8 C T 13: 49,662,447 A677V possibly damaging Het
Olfr1047 A T 2: 86,228,713 V86D probably damaging Het
Olfr309 T A 7: 86,306,849 N88I probably benign Het
Olfr639 T G 7: 104,012,059 L214F probably damaging Het
Paxip1 C A 5: 27,760,086 V659F probably damaging Het
Pclo T C 5: 14,521,090 V163A probably damaging Het
Pkn3 T A 2: 30,087,172 H641Q probably damaging Het
Plekhg6 G A 6: 125,370,660 R444C probably damaging Het
Rfx2 T C 17: 56,799,308 E175G probably benign Het
Samd9l A C 6: 3,377,264 probably benign Het
Sec14l5 A T 16: 5,180,706 T537S probably damaging Het
Serpinb9d A G 13: 33,195,966 E96G probably damaging Het
Setd4 T C 16: 93,591,118 E160G probably damaging Het
Sf3b2 C T 19: 5,274,824 D845N probably damaging Het
Slc16a4 A G 3: 107,301,097 I308V possibly damaging Het
Slco2b1 T A 7: 99,690,437 N100Y probably damaging Het
Sptbn1 A T 11: 30,121,545 S1475R probably benign Het
Tecta T C 9: 42,366,804 D1136G probably benign Het
Tmem94 G C 11: 115,788,717 R273S probably damaging Het
Tns3 A G 11: 8,445,730 S1225P possibly damaging Het
Ugt2b36 A G 5: 87,091,975 Y184H probably benign Het
Vmn2r59 A T 7: 42,012,726 M555K probably benign Het
Other mutations in B3gntl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:B3gntl1 APN 11 121670963 missense probably damaging 1.00
IGL01640:B3gntl1 APN 11 121673020 missense probably benign
IGL02609:B3gntl1 APN 11 121644601 splice site probably benign
R0394:B3gntl1 UTSW 11 121619715 missense probably damaging 1.00
R0469:B3gntl1 UTSW 11 121673025 missense probably benign
R0520:B3gntl1 UTSW 11 121623488 missense possibly damaging 0.89
R0541:B3gntl1 UTSW 11 121644604 splice site probably benign
R1460:B3gntl1 UTSW 11 121639798 missense probably damaging 1.00
R1600:B3gntl1 UTSW 11 121630836 missense probably damaging 1.00
R1961:B3gntl1 UTSW 11 121644525 critical splice donor site probably null
R4884:B3gntl1 UTSW 11 121629969 missense possibly damaging 0.83
R5779:B3gntl1 UTSW 11 121651676 splice site probably null
R7387:B3gntl1 UTSW 11 121629915 missense possibly damaging 0.87
R7421:B3gntl1 UTSW 11 121624178 missense probably benign 0.18
R7506:B3gntl1 UTSW 11 121670914 missense probably damaging 1.00
R7654:B3gntl1 UTSW 11 121651613 missense probably damaging 1.00
R7715:B3gntl1 UTSW 11 121639796 missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TGAACATGGGCCAGCAGTTAGATG -3'
(R):5'- CAGGACAAGTATGGATGCCCCAAAG -3'

Sequencing Primer
(F):5'- CCAGCAGTTAGATGGCAGTG -3'
(R):5'- AAGCTTCCCAGAGGGCATTG -3'
Posted On2013-04-24