Incidental Mutation 'R4232:Galnt7'
ID 320912
Institutional Source Beutler Lab
Gene Symbol Galnt7
Ensembl Gene ENSMUSG00000031608
Gene Name polypeptide N-acetylgalactosaminyltransferase 7
Synonyms ppGaNTase-T7
MMRRC Submission 041051-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.830) question?
Stock # R4232 (G1)
Quality Score 102
Status Not validated
Chromosome 8
Chromosomal Location 57976862-58106066 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58106000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 5 (I5V)
Ref Sequence ENSEMBL: ENSMUSP00000105945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034021] [ENSMUST00000110316]
AlphaFold Q80VA0
Predicted Effect probably benign
Transcript: ENSMUST00000034021
AA Change: I5V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034021
Gene: ENSMUSG00000031608
AA Change: I5V

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 benign
Transcript: ENSMUST00000110316
AA Change: I5V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105945
Gene: ENSMUSG00000031608
AA Change: I5V

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: ENSMUST00000156907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211700
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 92% (58/63)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Aven A G 2: 112,458,113 (GRCm39) D167G probably damaging Het
Celsr2 A G 3: 108,321,088 (GRCm39) F575L probably benign Het
Cflar A T 1: 58,780,152 (GRCm39) Q249L possibly damaging Het
Col7a1 G A 9: 108,801,881 (GRCm39) probably null Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah1 T C 14: 31,026,873 (GRCm39) N717S probably benign Het
Dnaja3 T A 16: 4,517,735 (GRCm39) N322K possibly damaging Het
Dnajb3 A G 1: 88,132,974 (GRCm39) S143P possibly damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Dvl3 A G 16: 20,342,983 (GRCm39) probably benign Het
Fkbp7 A T 2: 76,493,661 (GRCm39) D177E possibly damaging Het
Garin3 C A 11: 46,298,232 (GRCm39) T512K possibly damaging Het
Helz2 A T 2: 180,871,695 (GRCm39) L2639Q probably damaging Het
Hnrnpr T C 4: 136,066,500 (GRCm39) M394T probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kif14 T A 1: 136,444,101 (GRCm39) C1364* probably null Het
Macf1 T C 4: 123,326,185 (GRCm39) E5104G probably damaging Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Mrtfa T A 15: 80,907,796 (GRCm39) K29M probably damaging Het
Mtbp CATGA CATGAATGA 15: 55,484,073 (GRCm39) probably null Het
Nfkb1 A G 3: 135,309,531 (GRCm39) V521A probably damaging Het
Or2b7 T C 13: 21,739,631 (GRCm39) D187G probably damaging Het
Or7g32 G T 9: 19,389,022 (GRCm39) L175M probably damaging Het
P2rx6 T C 16: 17,388,631 (GRCm39) L335P probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pgpep1l T C 7: 67,886,827 (GRCm39) T161A probably benign Het
Prss40 A G 1: 34,599,873 (GRCm39) V38A probably benign Het
Ptk2 C A 15: 73,181,698 (GRCm39) R104L possibly damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rtp4 A G 16: 23,431,833 (GRCm39) N122D possibly damaging Het
Samd8 A G 14: 21,830,213 (GRCm39) Y213C probably benign Het
Shcbp1 T A 8: 4,786,372 (GRCm39) T577S probably benign Het
Tiprl A G 1: 165,050,156 (GRCm39) V153A probably damaging Het
Tmprss7 A T 16: 45,476,936 (GRCm39) D775E probably damaging Het
Tnr T C 1: 159,713,785 (GRCm39) S738P possibly damaging Het
Tsc22d4 T C 5: 137,749,632 (GRCm39) probably null Het
Ttc21a A T 9: 119,771,684 (GRCm39) H161L probably benign Het
Ubqln3 T A 7: 103,791,010 (GRCm39) E360V probably benign Het
Ugt1a10 C A 1: 87,983,932 (GRCm39) D243E probably benign Het
Vmn2r19 G A 6: 123,306,871 (GRCm39) V460I probably benign Het
Vmn2r58 T A 7: 41,487,011 (GRCm39) Y628F possibly damaging Het
Wnk1 A T 6: 119,926,222 (GRCm39) S1588T possibly damaging Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Zfp831 G C 2: 174,547,447 (GRCm39) W1543C possibly damaging 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
IGL00826:Galnt7 APN 8 57,993,105 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- GACTCTGTCCTGCGATTCCG -3'
(R):5'- TAAAGCCGAGGGGAGTTCCG -3'

Sequencing Primer
(F):5'- TTGGAGCGGCCGCCTATAG -3'
(R):5'- CGAGGGGAGTTCCGGATCTG -3'
Posted On 2015-06-12