Incidental Mutation 'IGL02611:Galntl6'
ID300474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galntl6
Ensembl Gene ENSMUSG00000096914
Gene NameUDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02611
Quality Score
Status
Chromosome8
Chromosomal Location57774052-58912640 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57958416 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 260 (M260T)
Ref Sequence ENSEMBL: ENSMUSP00000145321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000204128]
Predicted Effect unknown
Transcript: ENSMUST00000098757
AA Change: M75T
SMART Domains Protein: ENSMUSP00000096353
Gene: ENSMUSG00000096914
AA Change: M75T

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 1 144 1.6e-18 PFAM
Pfam:Glyco_transf_7C 113 187 3.6e-12 PFAM
RICIN 268 401 7.9e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204128
AA Change: M260T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914
AA Change: M260T

DomainStartEndE-ValueType
transmembrane domain 13 31 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 140 404 2.1e-9 PFAM
Pfam:Glycos_transf_2 143 328 7.3e-33 PFAM
Pfam:Glyco_tranf_2_2 143 356 1.2e-8 PFAM
Pfam:Glyco_transf_7C 297 371 6.2e-12 PFAM
RICIN 452 585 7.9e-21 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chac1 T A 2: 119,353,453 Y179N probably damaging Het
Cyp2c37 T G 19: 39,993,865 F103L probably benign Het
Dmp1 A T 5: 104,212,514 D352V probably damaging Het
Dpp8 T C 9: 65,055,793 I443T probably benign Het
Furin G A 7: 80,391,778 A544V probably benign Het
Gm17654 G A 14: 43,579,005 T47I possibly damaging Het
Hadha A G 5: 30,128,943 probably benign Het
Itfg2 T A 6: 128,424,725 N30I probably damaging Het
Kntc1 T A 5: 123,812,065 L1977H probably damaging Het
Lats1 T C 10: 7,705,787 F779L possibly damaging Het
Ltbp4 T C 7: 27,310,655 Y1160C probably damaging Het
Mcm7 C A 5: 138,167,439 S401I probably damaging Het
Olfr659 A T 7: 104,671,407 D235V possibly damaging Het
Olfr694 G T 7: 106,688,789 T314K probably benign Het
Pcdh8 C T 14: 79,767,667 V876I probably benign Het
Pfpl T C 19: 12,430,283 S633P probably benign Het
Psg29 G A 7: 17,208,791 R239Q probably benign Het
St18 T A 1: 6,768,890 probably benign Het
Syt2 G A 1: 134,741,882 C87Y possibly damaging Het
Unc79 A G 12: 103,165,708 T2300A probably damaging Het
Other mutations in Galntl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Galntl6 APN 8 57857540 missense probably damaging 1.00
IGL00557:Galntl6 APN 8 58911417 missense possibly damaging 0.71
IGL01140:Galntl6 APN 8 57958322 missense probably damaging 1.00
IGL01412:Galntl6 APN 8 57777294 missense probably damaging 0.99
IGL01458:Galntl6 APN 8 58427709 missense probably damaging 1.00
IGL01575:Galntl6 APN 8 58427676 intron probably benign
IGL01700:Galntl6 APN 8 57958460 splice site probably benign
IGL01710:Galntl6 APN 8 58535968 missense probably damaging 0.97
IGL02880:Galntl6 APN 8 57804272 missense probably benign 0.44
IGL03129:Galntl6 APN 8 58427716 missense probably damaging 1.00
IGL03215:Galntl6 APN 8 58911402 missense probably benign 0.00
IGL03249:Galntl6 APN 8 57777176 utr 3 prime probably benign
Fragilistic UTSW 8 58535984 missense probably benign
Indubitably UTSW 8 58427770 missense probably damaging 1.00
PIT4677001:Galntl6 UTSW 8 57857587 missense probably damaging 1.00
R0600:Galntl6 UTSW 8 57837183 splice site probably null
R0731:Galntl6 UTSW 8 58535984 missense probably benign
R0961:Galntl6 UTSW 8 58911340 missense probably benign
R1381:Galntl6 UTSW 8 58472955 missense probably damaging 0.99
R2137:Galntl6 UTSW 8 58535905 critical splice donor site probably null
R4632:Galntl6 UTSW 8 58427823 missense probably damaging 1.00
R4731:Galntl6 UTSW 8 58427813 missense probably damaging 1.00
R4732:Galntl6 UTSW 8 58427813 missense probably damaging 1.00
R4733:Galntl6 UTSW 8 58427813 missense probably damaging 1.00
R4920:Galntl6 UTSW 8 58427773 missense probably damaging 0.97
R4964:Galntl6 UTSW 8 58699911 intron probably benign
R5357:Galntl6 UTSW 8 57884463 missense probably damaging 0.99
R5526:Galntl6 UTSW 8 58472970 missense probably benign
R5951:Galntl6 UTSW 8 57962402 missense probably benign 0.06
R5965:Galntl6 UTSW 8 57857531 missense probably benign 0.03
R6260:Galntl6 UTSW 8 57884481 missense probably damaging 1.00
R6368:Galntl6 UTSW 8 58911441 missense probably damaging 1.00
R6695:Galntl6 UTSW 8 58427770 missense probably damaging 1.00
R7593:Galntl6 UTSW 8 57777259 missense probably damaging 1.00
R7780:Galntl6 UTSW 8 58427699 critical splice donor site probably null
R7833:Galntl6 UTSW 8 57857537 missense probably benign
R7871:Galntl6 UTSW 8 57837188 missense probably damaging 0.98
R8097:Galntl6 UTSW 8 57962373 splice site probably null
R8891:Galntl6 UTSW 8 57962399 missense probably damaging 1.00
Z1176:Galntl6 UTSW 8 57857558 missense probably damaging 0.99
Posted On2015-04-16