Incidental Mutation 'IGL03215:Galntl6'
ID413443
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: 0.105) question?
Stock #IGL03215
Quality Score
Status
Chromosome8
Chromosomal Location57774052-58912640 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58911402 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 25 (I25V)
Ref Sequence ENSEMBL: ENSMUSP00000145298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062978] [ENSMUST00000146513] [ENSMUST00000160055] [ENSMUST00000203398] [ENSMUST00000204128]
Predicted Effect probably benign
Transcript: ENSMUST00000062978
SMART Domains Protein: ENSMUSP00000131717
Gene: ENSMUSG00000049946

DomainStartEndE-ValueType
low complexity region 48 58 N/A INTRINSIC
low complexity region 92 101 N/A INTRINSIC
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
AA Change: I25V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118306
Gene: ENSMUSG00000096914
AA Change: I25V

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160055
SMART Domains Protein: ENSMUSP00000130369
Gene: ENSMUSG00000049946

DomainStartEndE-ValueType
low complexity region 112 122 N/A INTRINSIC
low complexity region 156 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203398
AA Change: I25V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000145298
Gene: ENSMUSG00000096914
AA Change: I25V

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204128
AA Change: I25V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914
AA Change: I25V

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 C T 1: 180,745,105 A310V possibly damaging Het
Acmsd C A 1: 127,758,013 S197* probably null Het
Adgrg4 A T X: 56,977,596 N2761I probably damaging Het
Amy1 G A 3: 113,556,000 A507V probably benign Het
Apob T C 12: 8,013,818 F316S possibly damaging Het
Arhgap10 T C 8: 77,277,152 T675A probably benign Het
Bbx A G 16: 50,202,572 I675T probably damaging Het
Cep126 C A 9: 8,100,530 E668* probably null Het
Cnga2 A G X: 72,009,166 D549G probably damaging Het
Dnah1 T A 14: 31,274,391 I2663F probably damaging Het
Fmo5 A G 3: 97,641,806 M257V probably benign Het
Il17ra A G 6: 120,472,114 N54S probably damaging Het
Mthfd1l A T 10: 4,041,826 T593S probably benign Het
Olfr1019 A T 2: 85,841,381 S137T probably damaging Het
Olfr1123 G A 2: 87,418,068 V7I probably benign Het
Olfr193 A T 16: 59,109,962 V216D possibly damaging Het
Olfr390 G T 11: 73,787,385 W149L probably damaging Het
Rnasel T A 1: 153,758,555 L578Q probably damaging Het
Serpinb1a A G 13: 32,850,369 L13S probably damaging Het
Slf1 G A 13: 77,049,977 P726L probably benign Het
Spta1 T C 1: 174,218,743 M1630T probably damaging Het
Stk16 T C 1: 75,212,592 probably benign Het
Tnxb T C 17: 34,692,525 F1724L possibly damaging Het
Vmn1r58 T C 7: 5,410,836 I132V probably benign Het
Zbtb41 T C 1: 139,446,950 I716T 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
IGL02611:Galntl6 APN 8 57958416 missense probably damaging 1.00
IGL02880:Galntl6 APN 8 57804272 missense probably benign 0.44
IGL03129:Galntl6 APN 8 58427716 missense probably damaging 1.00
IGL03249:Galntl6 APN 8 57777176 utr 3 prime 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
Posted On2016-08-02