Incidental Mutation 'IGL02795:Galnt5'
ID 359938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galnt5
Ensembl Gene ENSMUSG00000026828
Gene Name polypeptide N-acetylgalactosaminyltransferase 5
Synonyms ppGaNTase-T5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02795
Quality Score
Status
Chromosome 2
Chromosomal Location 57997884-58045860 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 58027871 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 707 (P707H)
Ref Sequence ENSEMBL: ENSMUSP00000131362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112616] [ENSMUST00000166729]
AlphaFold Q8C102
Predicted Effect probably damaging
Transcript: ENSMUST00000112616
AA Change: P707H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: P707H

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 319 330 N/A INTRINSIC
Pfam:Glycos_transf_2 489 672 1.3e-33 PFAM
Pfam:Glyco_transf_7C 653 718 1.9e-8 PFAM
RICIN 801 925 1.36e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144671
Predicted Effect probably damaging
Transcript: ENSMUST00000166729
AA Change: P707H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: P707H

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 319 330 N/A INTRINSIC
Pfam:Glycos_transf_2 489 672 2.1e-30 PFAM
Pfam:Glyco_transf_7C 652 718 7e-8 PFAM
RICIN 801 925 1.36e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]
PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,288,748 (GRCm38) L1391P probably damaging Het
Abcc3 G A 11: 94,361,642 (GRCm38) probably benign Het
Acvr1 A G 2: 58,462,952 (GRCm38) I332T probably damaging Het
Atp8a2 C T 14: 60,033,742 (GRCm38) V247M probably damaging Het
Btn1a1 T C 13: 23,460,616 (GRCm38) probably null Het
Btnl9 A T 11: 49,174,867 (GRCm38) probably benign Het
Dbx1 T A 7: 49,636,577 (GRCm38) I47F probably benign Het
Dnaja3 A G 16: 4,690,073 (GRCm38) probably benign Het
Dnmt1 T C 9: 20,927,111 (GRCm38) S220G probably benign Het
Dock9 A T 14: 121,639,978 (GRCm38) M451K probably benign Het
Eml3 A G 19: 8,933,778 (GRCm38) Y257C probably benign Het
Fbxw19 C A 9: 109,495,818 (GRCm38) M10I possibly damaging Het
Flg2 C T 3: 93,203,613 (GRCm38) R983W unknown Het
Gba2 G T 4: 43,578,331 (GRCm38) P6Q probably damaging Het
Gm13199 A G 2: 5,862,673 (GRCm38) probably benign Het
Gpr45 C T 1: 43,032,493 (GRCm38) R99C possibly damaging Het
Hecw1 G A 13: 14,322,517 (GRCm38) S302L probably damaging Het
Hrg T C 16: 22,957,553 (GRCm38) probably benign Het
Kdelc2 A G 9: 53,392,105 (GRCm38) D99G probably damaging Het
Lama1 A G 17: 67,738,894 (GRCm38) probably null Het
Lgr4 T C 2: 110,008,210 (GRCm38) probably benign Het
Lrrc9 C T 12: 72,478,768 (GRCm38) T830M probably damaging Het
Mdga2 T C 12: 66,689,432 (GRCm38) T341A probably benign Het
Mms19 C T 19: 41,952,406 (GRCm38) probably null Het
Nectin1 A G 9: 43,803,552 (GRCm38) S362G probably benign Het
Nlrc3 G T 16: 3,965,285 (GRCm38) H87N probably damaging Het
Oit1 T A 14: 8,355,497 (GRCm38) M113L probably benign Het
Olfr1018 T A 2: 85,823,512 (GRCm38) C180* probably null Het
Olfr142 A G 2: 90,252,562 (GRCm38) L142P probably damaging Het
Olfr183 G T 16: 59,000,277 (GRCm38) L197F possibly damaging Het
Olfr23 G A 11: 73,940,929 (GRCm38) V228I probably benign Het
Olfr243 T A 7: 103,716,883 (GRCm38) F96L probably benign Het
Pcsk1 G T 13: 75,112,620 (GRCm38) G321C probably damaging Het
Prrc2c G T 1: 162,714,299 (GRCm38) P374T probably benign Het
Rusc1 A T 3: 89,091,950 (GRCm38) L175Q probably damaging Het
Ryr2 T C 13: 11,595,190 (GRCm38) N4250S probably benign Het
Scara5 A C 14: 65,730,680 (GRCm38) N134T possibly damaging Het
Sema4d T C 13: 51,703,411 (GRCm38) K595R probably benign Het
Serpinb6a A C 13: 33,931,593 (GRCm38) L15R probably damaging Het
Setdb1 A T 3: 95,327,373 (GRCm38) N1006K probably damaging Het
Slc18a2 G A 19: 59,274,490 (GRCm38) probably benign Het
Slc22a30 C T 19: 8,400,895 (GRCm38) C139Y probably damaging Het
Slc25a27 T A 17: 43,647,112 (GRCm38) Y269F probably damaging Het
Slc9c1 A T 16: 45,575,419 (GRCm38) D611V probably benign Het
Spag6 G T 2: 18,733,083 (GRCm38) V255F probably benign Het
St5 T C 7: 109,556,364 (GRCm38) Y393C probably damaging Het
Svep1 C A 4: 58,123,223 (GRCm38) G698W probably damaging Het
Syne2 T C 12: 75,966,549 (GRCm38) L2839P probably damaging Het
Tfb2m T C 1: 179,545,959 (GRCm38) E58G possibly damaging Het
Trim24 A T 6: 37,919,389 (GRCm38) E260D probably damaging Het
Ugt2b1 T A 5: 86,917,701 (GRCm38) D493V probably damaging Het
Vmn1r27 A G 6: 58,215,302 (GRCm38) V189A possibly damaging Het
Vmn2r91 A G 17: 18,085,277 (GRCm38) Q74R probably benign Het
Vps25 A G 11: 101,256,090 (GRCm38) Y64C probably damaging Het
Xirp2 G A 2: 67,509,136 (GRCm38) G574S probably damaging Het
Ythdc2 A G 18: 44,837,438 (GRCm38) E273G possibly damaging Het
Other mutations in Galnt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Galnt5 APN 2 57,998,973 (GRCm38) missense probably benign
IGL00515:Galnt5 APN 2 57,999,068 (GRCm38) missense probably benign 0.02
IGL00950:Galnt5 APN 2 57,999,132 (GRCm38) missense probably benign 0.00
IGL00973:Galnt5 APN 2 57,998,939 (GRCm38) missense probably benign 0.02
IGL01152:Galnt5 APN 2 58,025,393 (GRCm38) missense probably benign 0.17
IGL01305:Galnt5 APN 2 58,025,342 (GRCm38) nonsense probably null
IGL01661:Galnt5 APN 2 57,999,482 (GRCm38) missense probably benign 0.03
IGL01719:Galnt5 APN 2 57,998,543 (GRCm38) missense probably damaging 1.00
IGL02165:Galnt5 APN 2 57,998,865 (GRCm38) missense probably benign
IGL02943:Galnt5 APN 2 57,999,768 (GRCm38) missense probably damaging 1.00
IGL03218:Galnt5 APN 2 57,999,389 (GRCm38) missense possibly damaging 0.59
ANU22:Galnt5 UTSW 2 58,025,342 (GRCm38) nonsense probably null
R0082:Galnt5 UTSW 2 57,999,035 (GRCm38) missense possibly damaging 0.92
R0113:Galnt5 UTSW 2 57,998,877 (GRCm38) missense probably benign
R0445:Galnt5 UTSW 2 57,998,950 (GRCm38) missense probably benign
R0517:Galnt5 UTSW 2 58,035,373 (GRCm38) splice site probably benign
R0609:Galnt5 UTSW 2 58,024,625 (GRCm38) missense possibly damaging 0.90
R0639:Galnt5 UTSW 2 57,999,395 (GRCm38) missense probably benign 0.07
R0646:Galnt5 UTSW 2 57,999,085 (GRCm38) missense probably benign 0.00
R0677:Galnt5 UTSW 2 57,998,980 (GRCm38) nonsense probably null
R1808:Galnt5 UTSW 2 58,026,125 (GRCm38) missense probably benign 0.24
R1927:Galnt5 UTSW 2 57,998,603 (GRCm38) missense probably benign 0.00
R1980:Galnt5 UTSW 2 58,024,723 (GRCm38) critical splice donor site probably null
R2517:Galnt5 UTSW 2 57,999,413 (GRCm38) missense probably benign 0.00
R4044:Galnt5 UTSW 2 57,998,460 (GRCm38) missense probably damaging 1.00
R4154:Galnt5 UTSW 2 57,998,493 (GRCm38) missense probably damaging 1.00
R4411:Galnt5 UTSW 2 57,999,195 (GRCm38) missense probably benign 0.01
R4703:Galnt5 UTSW 2 57,998,907 (GRCm38) missense possibly damaging 0.96
R4767:Galnt5 UTSW 2 58,028,144 (GRCm38) missense possibly damaging 0.91
R5118:Galnt5 UTSW 2 58,015,003 (GRCm38) missense probably damaging 1.00
R5497:Galnt5 UTSW 2 58,025,328 (GRCm38) missense probably damaging 0.99
R5506:Galnt5 UTSW 2 57,999,625 (GRCm38) missense probably benign
R5548:Galnt5 UTSW 2 58,014,910 (GRCm38) missense probably damaging 0.99
R5758:Galnt5 UTSW 2 57,998,430 (GRCm38) missense probably benign 0.19
R5937:Galnt5 UTSW 2 58,038,937 (GRCm38) missense probably benign 0.00
R6237:Galnt5 UTSW 2 58,035,249 (GRCm38) missense probably damaging 0.96
R6805:Galnt5 UTSW 2 58,035,299 (GRCm38) missense possibly damaging 0.82
R6959:Galnt5 UTSW 2 57,999,219 (GRCm38) missense probably benign 0.39
R7070:Galnt5 UTSW 2 57,998,609 (GRCm38) missense probably benign 0.00
R7179:Galnt5 UTSW 2 57,998,609 (GRCm38) missense probably benign 0.06
R7347:Galnt5 UTSW 2 58,017,193 (GRCm38) missense probably benign 0.33
R7419:Galnt5 UTSW 2 58,014,925 (GRCm38) missense probably damaging 1.00
R7426:Galnt5 UTSW 2 58,017,139 (GRCm38) missense probably damaging 0.99
R7492:Galnt5 UTSW 2 58,026,036 (GRCm38) splice site probably null
R7539:Galnt5 UTSW 2 58,035,230 (GRCm38) missense probably damaging 0.99
R7623:Galnt5 UTSW 2 58,017,210 (GRCm38) missense probably damaging 0.99
R8135:Galnt5 UTSW 2 58,014,868 (GRCm38) missense probably damaging 1.00
R8155:Galnt5 UTSW 2 57,999,415 (GRCm38) missense probably benign 0.01
R8544:Galnt5 UTSW 2 58,017,148 (GRCm38) missense probably damaging 1.00
R9267:Galnt5 UTSW 2 58,035,208 (GRCm38) missense possibly damaging 0.58
R9747:Galnt5 UTSW 2 57,999,465 (GRCm38) missense probably benign 0.11
Posted On 2015-12-18