Incidental Mutation 'IGL00826:Galnt7'
ID 10898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galnt7
Ensembl Gene ENSMUSG00000031608
Gene Name polypeptide N-acetylgalactosaminyltransferase 7
Synonyms ppGaNTase-T7
Accession Numbers
Essential gene? Probably essential (E-score: 0.830) question?
Stock # IGL00826
Quality Score
Status
Chromosome 8
Chromosomal Location 57976862-58106066 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 57993105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 405 (Y405*)
Ref Sequence ENSEMBL: ENSMUSP00000105945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034021] [ENSMUST00000110316]
AlphaFold Q80VA0
Predicted Effect probably null
Transcript: ENSMUST00000034021
AA Change: Y405*
SMART Domains Protein: ENSMUSP00000034021
Gene: ENSMUSG00000031608
AA Change: Y405*

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 48 62 N/A INTRINSIC
low complexity region 136 152 N/A INTRINSIC
Pfam:Glycos_transf_2 210 399 3e-28 PFAM
Pfam:Glyco_tranf_2_2 210 490 2e-7 PFAM
Pfam:Glyco_transf_7C 375 445 1.8e-8 PFAM
RICIN 531 652 3.39e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000110316
AA Change: Y405*
SMART Domains Protein: ENSMUSP00000105945
Gene: ENSMUSG00000031608
AA Change: Y405*

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 48 62 N/A INTRINSIC
low complexity region 136 152 N/A INTRINSIC
Pfam:Glycos_transf_2 210 399 8.2e-27 PFAM
Pfam:Glyco_tranf_2_2 210 490 1.3e-7 PFAM
Pfam:Glyco_transf_7C 369 445 9.3e-9 PFAM
RICIN 531 652 3.39e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156907
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T G 8: 111,766,932 (GRCm39) S105A probably damaging Het
Adamtsl1 C T 4: 86,075,041 (GRCm39) P136L probably damaging Het
Akap13 C A 7: 75,327,195 (GRCm39) N376K probably damaging Het
Casp2 T A 6: 42,246,219 (GRCm39) Y192* probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cyp2c68 A G 19: 39,727,949 (GRCm39) Y68H possibly damaging Het
Cyp2j9 A T 4: 96,474,167 (GRCm39) I91K possibly damaging Het
Diablo T C 5: 123,650,751 (GRCm39) I179M probably benign Het
Dnah9 C T 11: 65,880,768 (GRCm39) V2610M probably damaging Het
Dsc2 C T 18: 20,168,372 (GRCm39) A696T probably damaging Het
Eaf2 A T 16: 36,621,038 (GRCm39) M218K probably benign Het
Emc9 G T 14: 55,822,377 (GRCm39) L64I possibly damaging Het
Epb41l2 T C 10: 25,317,620 (GRCm39) S46P probably benign Het
Gnl3 A G 14: 30,734,753 (GRCm39) probably benign Het
Map1a A G 2: 121,132,757 (GRCm39) Q1191R possibly damaging Het
Map2k2 G A 10: 80,954,052 (GRCm39) V173I probably benign Het
Nbeal2 A G 9: 110,455,971 (GRCm39) V2408A probably benign Het
Npepps T C 11: 97,126,884 (GRCm39) probably benign Het
Osbpl8 A T 10: 111,108,181 (GRCm39) probably benign Het
Phf12 G T 11: 77,906,332 (GRCm39) R282L probably damaging Het
Phf21a T G 2: 92,174,881 (GRCm39) probably benign Het
Plin2 T C 4: 86,582,683 (GRCm39) N98D possibly damaging Het
Prl7a1 A G 13: 27,824,778 (GRCm39) V19A probably damaging Het
Slfn10-ps T C 11: 82,926,085 (GRCm39) noncoding transcript Het
Spag11b T G 8: 19,191,423 (GRCm39) V33G possibly damaging Het
Trappc13 A T 13: 104,281,016 (GRCm39) S349T probably benign Het
Trim34a T C 7: 103,910,140 (GRCm39) probably null Het
Other mutations in Galnt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Galnt7 APN 8 57,993,073 (GRCm39) missense probably damaging 1.00
IGL00538:Galnt7 APN 8 58,005,556 (GRCm39) missense possibly damaging 0.95
IGL00951:Galnt7 APN 8 58,036,858 (GRCm39) missense probably damaging 0.96
IGL01662:Galnt7 APN 8 57,984,769 (GRCm39) splice site probably benign
IGL02280:Galnt7 APN 8 57,989,824 (GRCm39) missense probably damaging 1.00
IGL02832:Galnt7 APN 8 58,005,531 (GRCm39) missense probably damaging 1.00
IGL02936:Galnt7 APN 8 58,037,248 (GRCm39) missense probably benign
IGL03083:Galnt7 APN 8 57,979,223 (GRCm39) missense probably damaging 0.98
IGL03387:Galnt7 APN 8 57,979,212 (GRCm39) missense probably benign 0.01
R0400:Galnt7 UTSW 8 58,037,023 (GRCm39) missense probably damaging 0.99
R0553:Galnt7 UTSW 8 58,005,464 (GRCm39) splice site probably benign
R1463:Galnt7 UTSW 8 58,105,892 (GRCm39) missense probably benign
R1487:Galnt7 UTSW 8 57,993,073 (GRCm39) missense probably damaging 1.00
R1791:Galnt7 UTSW 8 57,995,564 (GRCm39) missense probably benign 0.05
R1817:Galnt7 UTSW 8 57,991,212 (GRCm39) missense probably damaging 1.00
R1962:Galnt7 UTSW 8 57,985,748 (GRCm39) missense probably benign 0.13
R3855:Galnt7 UTSW 8 57,985,658 (GRCm39) splice site probably benign
R3856:Galnt7 UTSW 8 57,985,658 (GRCm39) splice site probably benign
R4232:Galnt7 UTSW 8 58,106,000 (GRCm39) missense probably benign
R4396:Galnt7 UTSW 8 57,991,215 (GRCm39) missense probably damaging 1.00
R4426:Galnt7 UTSW 8 58,005,606 (GRCm39) nonsense probably null
R4610:Galnt7 UTSW 8 57,998,803 (GRCm39) missense probably damaging 0.99
R4745:Galnt7 UTSW 8 57,995,761 (GRCm39) intron probably benign
R4794:Galnt7 UTSW 8 57,998,397 (GRCm39) missense probably damaging 1.00
R5014:Galnt7 UTSW 8 57,998,414 (GRCm39) missense probably damaging 1.00
R5177:Galnt7 UTSW 8 58,037,061 (GRCm39) missense possibly damaging 0.87
R5682:Galnt7 UTSW 8 58,036,967 (GRCm39) nonsense probably null
R6122:Galnt7 UTSW 8 57,979,200 (GRCm39) missense probably damaging 0.99
R6276:Galnt7 UTSW 8 57,989,612 (GRCm39) splice site probably null
R6684:Galnt7 UTSW 8 57,991,143 (GRCm39) missense probably benign 0.16
R6752:Galnt7 UTSW 8 58,105,985 (GRCm39) missense probably damaging 1.00
R7464:Galnt7 UTSW 8 58,037,054 (GRCm39) missense possibly damaging 0.95
R7491:Galnt7 UTSW 8 58,005,552 (GRCm39) missense probably damaging 0.97
R7547:Galnt7 UTSW 8 58,036,996 (GRCm39) missense possibly damaging 0.48
R8093:Galnt7 UTSW 8 57,985,739 (GRCm39) missense probably benign 0.00
R8221:Galnt7 UTSW 8 58,005,600 (GRCm39) missense possibly damaging 0.93
R8248:Galnt7 UTSW 8 57,991,222 (GRCm39) missense probably benign 0.34
R8402:Galnt7 UTSW 8 57,995,953 (GRCm39) missense probably damaging 0.98
R8779:Galnt7 UTSW 8 58,037,245 (GRCm39) missense probably benign
R8894:Galnt7 UTSW 8 57,979,176 (GRCm39) nonsense probably null
R8974:Galnt7 UTSW 8 58,105,934 (GRCm39) missense
R9106:Galnt7 UTSW 8 57,985,729 (GRCm39) missense probably damaging 1.00
R9297:Galnt7 UTSW 8 57,995,555 (GRCm39) missense probably damaging 0.98
X0050:Galnt7 UTSW 8 58,005,478 (GRCm39) frame shift probably null
X0062:Galnt7 UTSW 8 58,036,942 (GRCm39) missense probably benign 0.04
Posted On 2012-12-06