Incidental Mutation 'IGL01575:Galntl6'
ID 91234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galntl6
Ensembl Gene ENSMUSG00000096914
Gene Name UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6
Synonyms 4930431L04Rik, 1700021K10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL01575
Quality Score
Status
Chromosome 8
Chromosomal Location 58227086-59365674 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 58880710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000146513] [ENSMUST00000188531] [ENSMUST00000204128]
AlphaFold E5D8G1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000077447
SMART Domains Protein: ENSMUSP00000076660
Gene: ENSMUSG00000061864

DomainStartEndE-ValueType
transmembrane domain 13 31 N/A INTRINSIC
Pfam:Glycos_transf_2 143 188 4.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146513
SMART Domains Protein: ENSMUSP00000118306
Gene: ENSMUSG00000096914

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188531
SMART Domains Protein: ENSMUSP00000139677
Gene: ENSMUSG00000096914

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 98 139 2.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204128
SMART Domains Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc2 C T 2: 25,175,188 (GRCm39) probably benign Het
Atp10b G A 11: 43,063,548 (GRCm39) R161H probably benign Het
Boll A G 1: 55,362,807 (GRCm39) probably null Het
Cngb1 G A 8: 95,991,148 (GRCm39) P226S possibly damaging Het
Commd3 G A 2: 18,679,528 (GRCm39) probably null Het
Ddx46 C T 13: 55,801,996 (GRCm39) probably benign Het
Dmrtb1 A G 4: 107,541,265 (GRCm39) I32T probably benign Het
Dnah7a T C 1: 53,466,979 (GRCm39) probably benign Het
Dppa5a A G 9: 78,275,062 (GRCm39) I80T possibly damaging Het
Hmgcr A G 13: 96,793,103 (GRCm39) Y510H possibly damaging Het
Idua G T 5: 108,829,973 (GRCm39) R505L possibly damaging Het
Ifna15 A G 4: 88,476,044 (GRCm39) F147L probably damaging Het
Itga4 T C 2: 79,118,599 (GRCm39) S433P probably damaging Het
Kcnc1 T C 7: 46,077,523 (GRCm39) Y442H possibly damaging Het
Kmt2d A G 15: 98,744,736 (GRCm39) probably benign Het
Mpp7 A G 18: 7,403,365 (GRCm39) probably benign Het
Or14c39 T C 7: 86,344,501 (GRCm39) V279A probably benign Het
Or5p64 A C 7: 107,854,742 (GRCm39) V201G possibly damaging Het
Or6c75 A G 10: 129,337,436 (GRCm39) I228V probably benign Het
Pam16l T C 10: 43,400,411 (GRCm39) V55A probably benign Het
Phf14 T C 6: 11,990,050 (GRCm39) L693S probably damaging Het
Pkd1 A G 17: 24,792,102 (GRCm39) N1263S probably damaging Het
Rhbdl1 G T 17: 26,055,112 (GRCm39) A32E possibly damaging Het
Samd9l A G 6: 3,376,734 (GRCm39) S176P possibly damaging Het
Scn1a G T 2: 66,103,580 (GRCm39) F1893L probably damaging Het
Serpina3f C A 12: 104,184,699 (GRCm39) P281Q probably damaging Het
Slc35a1 G T 4: 34,668,932 (GRCm39) Q294K probably benign Het
Sspo G A 6: 48,435,976 (GRCm39) S1154N probably benign Het
Tdrd6 A G 17: 43,938,871 (GRCm39) S726P probably benign Het
Tiam2 A T 17: 3,504,591 (GRCm39) E24V probably damaging Het
Tmf1 T C 6: 97,152,897 (GRCm39) E392G probably damaging Het
Tns2 T C 15: 102,021,626 (GRCm39) V1089A probably damaging Het
Tspyl1 C A 10: 34,159,086 (GRCm39) N270K probably damaging Het
Usp32 A T 11: 84,913,628 (GRCm39) V901D probably damaging Het
Vldlr A G 19: 27,224,031 (GRCm39) I764V probably benign Het
Wnk2 A G 13: 49,300,152 (GRCm39) V186A probably damaging Het
Zdhhc18 A G 4: 133,341,210 (GRCm39) V221A probably damaging Het
Other mutations in Galntl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Galntl6 APN 8 58,310,574 (GRCm39) missense probably damaging 1.00
IGL00557:Galntl6 APN 8 59,364,451 (GRCm39) missense possibly damaging 0.71
IGL01140:Galntl6 APN 8 58,411,356 (GRCm39) missense probably damaging 1.00
IGL01412:Galntl6 APN 8 58,230,328 (GRCm39) missense probably damaging 0.99
IGL01458:Galntl6 APN 8 58,880,743 (GRCm39) missense probably damaging 1.00
IGL01700:Galntl6 APN 8 58,411,494 (GRCm39) splice site probably benign
IGL01710:Galntl6 APN 8 58,989,002 (GRCm39) missense probably damaging 0.97
IGL02611:Galntl6 APN 8 58,411,450 (GRCm39) missense probably damaging 1.00
IGL02880:Galntl6 APN 8 58,257,306 (GRCm39) missense probably benign 0.44
IGL03129:Galntl6 APN 8 58,880,750 (GRCm39) missense probably damaging 1.00
IGL03215:Galntl6 APN 8 59,364,436 (GRCm39) missense probably benign 0.00
IGL03249:Galntl6 APN 8 58,230,210 (GRCm39) utr 3 prime probably benign
Fragilistic UTSW 8 58,989,018 (GRCm39) missense probably benign
Indubitably UTSW 8 58,880,804 (GRCm39) missense probably damaging 1.00
PIT4677001:Galntl6 UTSW 8 58,310,621 (GRCm39) missense probably damaging 1.00
R0600:Galntl6 UTSW 8 58,290,217 (GRCm39) splice site probably null
R0731:Galntl6 UTSW 8 58,989,018 (GRCm39) missense probably benign
R0961:Galntl6 UTSW 8 59,364,374 (GRCm39) missense probably benign
R1381:Galntl6 UTSW 8 58,925,989 (GRCm39) missense probably damaging 0.99
R2137:Galntl6 UTSW 8 58,988,939 (GRCm39) critical splice donor site probably null
R4632:Galntl6 UTSW 8 58,880,857 (GRCm39) missense probably damaging 1.00
R4731:Galntl6 UTSW 8 58,880,847 (GRCm39) missense probably damaging 1.00
R4732:Galntl6 UTSW 8 58,880,847 (GRCm39) missense probably damaging 1.00
R4733:Galntl6 UTSW 8 58,880,847 (GRCm39) missense probably damaging 1.00
R4920:Galntl6 UTSW 8 58,880,807 (GRCm39) missense probably damaging 0.97
R4964:Galntl6 UTSW 8 59,152,945 (GRCm39) intron probably benign
R5357:Galntl6 UTSW 8 58,337,497 (GRCm39) missense probably damaging 0.99
R5526:Galntl6 UTSW 8 58,926,004 (GRCm39) missense probably benign
R5951:Galntl6 UTSW 8 58,415,436 (GRCm39) missense probably benign 0.06
R5965:Galntl6 UTSW 8 58,310,565 (GRCm39) missense probably benign 0.03
R6260:Galntl6 UTSW 8 58,337,515 (GRCm39) missense probably damaging 1.00
R6368:Galntl6 UTSW 8 59,364,475 (GRCm39) missense probably damaging 1.00
R6695:Galntl6 UTSW 8 58,880,804 (GRCm39) missense probably damaging 1.00
R7593:Galntl6 UTSW 8 58,230,293 (GRCm39) missense probably damaging 1.00
R7780:Galntl6 UTSW 8 58,880,733 (GRCm39) critical splice donor site probably null
R7833:Galntl6 UTSW 8 58,310,571 (GRCm39) missense probably benign
R7871:Galntl6 UTSW 8 58,290,222 (GRCm39) missense probably damaging 0.98
R8097:Galntl6 UTSW 8 58,415,407 (GRCm39) splice site probably null
R8891:Galntl6 UTSW 8 58,415,433 (GRCm39) missense probably damaging 1.00
R9177:Galntl6 UTSW 8 58,310,590 (GRCm39) nonsense probably null
R9196:Galntl6 UTSW 8 58,415,461 (GRCm39) missense probably damaging 1.00
R9384:Galntl6 UTSW 8 58,415,461 (GRCm39) missense probably damaging 1.00
R9454:Galntl6 UTSW 8 58,411,435 (GRCm39) missense probably damaging 0.99
R9474:Galntl6 UTSW 8 58,230,359 (GRCm39) missense probably damaging 0.99
R9482:Galntl6 UTSW 8 58,310,549 (GRCm39) critical splice donor site probably null
R9497:Galntl6 UTSW 8 58,290,410 (GRCm39) missense probably damaging 0.99
Z1176:Galntl6 UTSW 8 58,310,592 (GRCm39) missense probably damaging 0.99
Posted On 2013-12-09