Incidental Mutation 'R8809:B3gntl1'
ID 672297
Institutional Source Beutler Lab
Gene Symbol B3gntl1
Ensembl Gene ENSMUSG00000046605
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1
Synonyms 6030413G23Rik
MMRRC Submission 068645-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R8809 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 121507023-121563979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121521690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 166 (F166I)
Ref Sequence ENSEMBL: ENSMUSP00000068590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062654] [ENSMUST00000067399]
AlphaFold Q3U129
Predicted Effect possibly damaging
Transcript: ENSMUST00000062654
AA Change: F166I

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049890
Gene: ENSMUSG00000046605
AA Change: F166I

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 possibly damaging
Transcript: ENSMUST00000067399
AA Change: F166I

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000068590
Gene: ENSMUSG00000046605
AA Change: F166I

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (63/65)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 C T 10: 89,550,841 (GRCm39) V318I probably benign Het
Adam29 A G 8: 56,325,659 (GRCm39) I265T probably benign Het
Ankdd1a A T 9: 65,415,422 (GRCm39) probably benign Het
Arcn1 T C 9: 44,655,259 (GRCm39) T501A possibly damaging Het
Brap T C 5: 121,822,524 (GRCm39) S467P possibly damaging Het
Cenpb A G 2: 131,020,322 (GRCm39) V492A unknown Het
Ces1b C A 8: 93,786,948 (GRCm39) G477V probably damaging Het
Ces1b C T 8: 93,786,949 (GRCm39) G477R probably damaging Het
Cfap65 T C 1: 74,942,382 (GRCm39) K1724R probably benign Het
Chrd A T 16: 20,553,270 (GRCm39) Q182L probably benign Het
Chrnb2 T C 3: 89,664,457 (GRCm39) T486A probably benign Het
Col25a1 A T 3: 130,354,466 (GRCm39) probably null Het
Col4a1 A G 8: 11,295,916 (GRCm39) Y101H unknown Het
Crybg1 T C 10: 43,879,428 (GRCm39) T587A probably damaging Het
Ctnnal1 T A 4: 56,835,374 (GRCm39) N301I possibly damaging Het
Cyp2f2 A T 7: 26,831,995 (GRCm39) N417Y probably damaging Het
Dnah6 T A 6: 73,009,546 (GRCm39) E3800D possibly damaging Het
Dync2i1 A G 12: 116,193,234 (GRCm39) S573P probably damaging Het
Ehmt2 C A 17: 35,127,489 (GRCm39) T906K probably damaging Het
Fbxo15 A G 18: 84,978,200 (GRCm39) H183R possibly damaging Het
Fgl1 T A 8: 41,650,368 (GRCm39) K194* probably null Het
Fxr1 G A 3: 34,108,430 (GRCm39) V314I possibly damaging Het
Hrnr A G 3: 93,239,443 (GRCm39) Q3227R unknown Het
Ier5 G A 1: 154,974,716 (GRCm39) A154V probably benign Het
Igkc T G 6: 70,703,502 (GRCm39) L28V Het
Kcnh1 G A 1: 191,903,722 (GRCm39) G54D probably damaging Het
Kcnn1 C T 8: 71,305,297 (GRCm39) probably null Het
Kifbp C T 10: 62,395,491 (GRCm39) D384N possibly damaging Het
Klra2 T A 6: 131,197,198 (GRCm39) N234I possibly damaging Het
Krtap4-9 T C 11: 99,676,454 (GRCm39) I125T unknown Het
Lrig2 T C 3: 104,368,993 (GRCm39) T897A probably benign Het
Lyve1 G T 7: 110,452,999 (GRCm39) T199K probably damaging Het
Myorg T C 4: 41,498,812 (GRCm39) T273A probably benign Het
Napa A G 7: 15,846,551 (GRCm39) D113G possibly damaging Het
Neurog1 GGTG GGTGTG 13: 56,399,098 (GRCm39) probably null Het
Nf1 T A 11: 79,437,964 (GRCm39) H91Q probably damaging Het
Or4c11c T C 2: 88,662,256 (GRCm39) M265T probably benign Het
Or4n4 A G 14: 50,519,236 (GRCm39) I158T probably benign Het
Or52e3 A T 7: 102,869,446 (GRCm39) N174Y probably benign Het
Or5k16 T A 16: 58,736,248 (GRCm39) Y252F probably damaging Het
Or7g16 A G 9: 18,726,919 (GRCm39) S224P probably damaging Het
Pccb A T 9: 100,867,220 (GRCm39) Y455* probably null Het
Pdk2 A T 11: 94,923,339 (GRCm39) I95N probably damaging Het
Pik3c2g G A 6: 139,714,436 (GRCm39) R196H Het
Pkd1l2 A G 8: 117,726,660 (GRCm39) L2282P probably damaging Het
Plppr2 TCGCC TC 9: 21,855,727 (GRCm39) probably benign Het
Prdm1 A T 10: 44,315,749 (GRCm39) S796T probably benign Het
Rb1 A G 14: 73,503,000 (GRCm39) F424L probably damaging Het
Retreg3 A G 11: 100,992,852 (GRCm39) L190P probably damaging Het
Rffl A G 11: 82,700,864 (GRCm39) Y321H probably damaging Het
Rlbp1 A G 7: 79,025,704 (GRCm39) Y246H probably damaging Het
Rock2 T A 12: 17,015,655 (GRCm39) probably benign Het
Slc17a3 C A 13: 24,039,575 (GRCm39) C244* probably null Het
Snapc1 T C 12: 74,021,812 (GRCm39) S304P probably benign Het
Sp9 T C 2: 73,104,019 (GRCm39) L191P probably damaging Het
Spag17 A T 3: 99,889,738 (GRCm39) E202D probably benign Het
Ss18 A G 18: 14,760,344 (GRCm39) *419R probably null Het
Tacc2 A G 7: 130,276,421 (GRCm39) E1824G possibly damaging Het
Tacc3 T A 5: 33,824,029 (GRCm39) probably benign Het
Tfap2a A T 13: 40,870,829 (GRCm39) L353Q probably damaging Het
Ugt3a1 A G 15: 9,367,345 (GRCm39) I363V possibly damaging Het
Vmn1r158 A G 7: 22,489,775 (GRCm39) C145R probably damaging Het
Vmn1r23 A T 6: 57,903,352 (GRCm39) I142K probably damaging Het
Vmn2r15 A T 5: 109,434,874 (GRCm39) I610N probably benign Het
Yy1 CGGCGACCACGGCGGCGGCGGGGGCG CGGCG 12: 108,759,506 (GRCm39) probably benign Het
Zbtb7c T C 18: 76,270,190 (GRCm39) Y93H probably damaging Het
Zfp62 A G 11: 49,107,238 (GRCm39) N443S probably damaging Het
Other mutations in B3gntl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:B3gntl1 APN 11 121,561,789 (GRCm39) missense probably damaging 1.00
IGL01640:B3gntl1 APN 11 121,563,846 (GRCm39) missense probably benign
IGL02609:B3gntl1 APN 11 121,535,427 (GRCm39) splice site probably benign
R0370:B3gntl1 UTSW 11 121,514,980 (GRCm39) missense probably damaging 1.00
R0394:B3gntl1 UTSW 11 121,510,541 (GRCm39) missense probably damaging 1.00
R0469:B3gntl1 UTSW 11 121,563,851 (GRCm39) missense probably benign
R0520:B3gntl1 UTSW 11 121,514,314 (GRCm39) missense possibly damaging 0.89
R0541:B3gntl1 UTSW 11 121,535,430 (GRCm39) splice site probably benign
R1460:B3gntl1 UTSW 11 121,530,624 (GRCm39) missense probably damaging 1.00
R1600:B3gntl1 UTSW 11 121,521,662 (GRCm39) missense probably damaging 1.00
R1961:B3gntl1 UTSW 11 121,535,351 (GRCm39) critical splice donor site probably null
R4884:B3gntl1 UTSW 11 121,520,795 (GRCm39) missense possibly damaging 0.83
R5779:B3gntl1 UTSW 11 121,542,502 (GRCm39) splice site probably null
R7387:B3gntl1 UTSW 11 121,520,741 (GRCm39) missense possibly damaging 0.87
R7421:B3gntl1 UTSW 11 121,515,004 (GRCm39) missense probably benign 0.18
R7506:B3gntl1 UTSW 11 121,561,740 (GRCm39) missense probably damaging 1.00
R7654:B3gntl1 UTSW 11 121,542,439 (GRCm39) missense probably damaging 1.00
R7715:B3gntl1 UTSW 11 121,530,622 (GRCm39) missense possibly damaging 0.93
R9245:B3gntl1 UTSW 11 121,514,770 (GRCm39) missense possibly damaging 0.68
R9577:B3gntl1 UTSW 11 121,515,040 (GRCm39) missense probably benign 0.00
R9770:B3gntl1 UTSW 11 121,521,652 (GRCm39) nonsense probably null
Z1177:B3gntl1 UTSW 11 121,530,640 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCAATGTTGAGCCAAGAAGC -3'
(R):5'- CGTTCGTCATGTGGGCTAATC -3'

Sequencing Primer
(F):5'- GAGGCTGAATTTCCCAAACTCTGG -3'
(R):5'- CGTCATGTGGGCTAATCTCTATAGAG -3'
Posted On 2021-04-30