Incidental Mutation 'IGL02609:B3gntl1'
ID 300428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3gntl1
Ensembl Gene ENSMUSG00000046605
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1
Synonyms 6030413G23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL02609
Quality Score
Status
Chromosome 11
Chromosomal Location 121507023-121563979 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 121535427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000068590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062654] [ENSMUST00000067399]
AlphaFold Q3U129
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 benign
Transcript: ENSMUST00000067399
SMART Domains Protein: ENSMUSP00000068590
Gene: ENSMUSG00000046605

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,381,854 (GRCm39) probably benign Het
Aadacl4fm5 T A 4: 144,506,307 (GRCm39) D128V probably damaging Het
Adcy10 T G 1: 165,366,044 (GRCm39) Y520* probably null Het
Agrn A T 4: 156,259,680 (GRCm39) probably benign Het
AI661453 A T 17: 47,779,297 (GRCm39) probably benign Het
Arhgap6 A G X: 167,961,062 (GRCm39) probably benign Het
Asxl2 T C 12: 3,550,018 (GRCm39) S587P probably damaging Het
Bahcc1 T C 11: 120,180,224 (GRCm39) F2527L possibly damaging Het
Baz2b T A 2: 59,747,713 (GRCm39) M1317L possibly damaging Het
Bcas3 A T 11: 85,348,720 (GRCm39) K204I probably damaging Het
Bpnt2 T A 4: 4,767,763 (GRCm39) R338* probably null Het
C1qtnf1 T C 11: 118,338,830 (GRCm39) F167L probably damaging Het
Cfap58 C T 19: 47,963,941 (GRCm39) T523M possibly damaging Het
Ddb1 T A 19: 10,599,830 (GRCm39) C680S possibly damaging Het
Eef1d T C 15: 75,768,162 (GRCm39) Q200R probably null Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm28557 T A 13: 67,219,083 (GRCm39) K214* probably null Het
Gm8229 A C 14: 44,604,082 (GRCm39) E90D probably benign Het
Hhla1 T C 15: 65,802,463 (GRCm39) probably benign Het
Hivep1 C T 13: 42,309,130 (GRCm39) H457Y probably damaging Het
Htr2c T C X: 145,976,756 (GRCm39) probably benign Het
Ifi44 A T 3: 151,438,134 (GRCm39) S384R probably damaging Het
Kirrel2 T C 7: 30,147,765 (GRCm39) T628A probably benign Het
Kmt2d T C 15: 98,749,674 (GRCm39) probably benign Het
Larp4b T A 13: 9,220,716 (GRCm39) I655N probably damaging Het
Lrrd1 G A 5: 3,908,803 (GRCm39) V692I probably benign Het
Lypd8l A T 11: 58,503,442 (GRCm39) C29S probably damaging Het
Nes T C 3: 87,884,528 (GRCm39) I929T probably benign Het
Ogfr T C 2: 180,234,308 (GRCm39) probably benign Het
Pwwp3a A T 10: 80,065,917 (GRCm39) E57V probably damaging Het
Rfx2 G T 17: 57,112,404 (GRCm39) P43Q probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sh3tc1 T C 5: 35,864,516 (GRCm39) K495R probably damaging Het
Slit1 A T 19: 41,590,743 (GRCm39) C1310S probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stk35 T C 2: 129,643,721 (GRCm39) V235A probably damaging Het
Syde2 T G 3: 145,704,275 (GRCm39) V142G probably benign Het
Tgfb3 A G 12: 86,124,613 (GRCm39) F32L probably benign Het
Tmem35a T C X: 133,205,446 (GRCm39) F121L probably damaging Het
Trp53bp2 T A 1: 182,281,289 (GRCm39) D963E probably benign Het
Vmn1r26 A G 6: 57,985,860 (GRCm39) S110P probably damaging Het
Vpreb1b T C 16: 17,798,558 (GRCm39) probably benign Het
Xrn2 A T 2: 146,891,945 (GRCm39) T721S probably benign 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
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
R8809:B3gntl1 UTSW 11 121,521,690 (GRCm39) missense possibly damaging 0.83
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
Posted On 2015-04-16