Incidental Mutation 'R9294:Galnt6'
ID 704503
Institutional Source Beutler Lab
Gene Symbol Galnt6
Ensembl Gene ENSMUSG00000037280
Gene Name polypeptide N-acetylgalactosaminyltransferase 6
Synonyms GalNAc-T6
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R9294 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 100589694-100627257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100602032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 258 (S258R)
Ref Sequence ENSEMBL: ENSMUSP00000056705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052069] [ENSMUST00000159715] [ENSMUST00000161514]
AlphaFold Q8C7U7
Predicted Effect possibly damaging
Transcript: ENSMUST00000052069
AA Change: S258R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056705
Gene: ENSMUSG00000037280
AA Change: S258R

DomainStartEndE-ValueType
low complexity region 1 16 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 177 431 4.2e-10 PFAM
Pfam:Glycos_transf_2 180 366 8.8e-36 PFAM
Pfam:Glyco_transf_7C 337 415 8.5e-14 PFAM
RICIN 496 622 1.53e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000159715
AA Change: S258R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123848
Gene: ENSMUSG00000037280
AA Change: S258R

DomainStartEndE-ValueType
low complexity region 1 16 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 177 432 1e-10 PFAM
Pfam:Glycos_transf_2 180 366 4.1e-31 PFAM
Pfam:Glyco_transf_7C 337 415 6.7e-13 PFAM
RICIN 496 622 1.53e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000161514
AA Change: S258R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124793
Gene: ENSMUSG00000037280
AA Change: S258R

DomainStartEndE-ValueType
low complexity region 1 16 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 177 431 4.2e-10 PFAM
Pfam:Glycos_transf_2 180 366 8.8e-36 PFAM
Pfam:Glyco_transf_7C 337 415 8.5e-14 PFAM
RICIN 496 622 1.53e-27 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik A G 8: 84,730,008 (GRCm39) Y165C probably damaging Het
Abcb11 T A 2: 69,095,840 (GRCm39) K833N possibly damaging Het
Abcb1a T A 5: 8,736,171 (GRCm39) M188K probably benign Het
Akap1 A T 11: 88,727,966 (GRCm39) V672D probably damaging Het
Anapc4 A G 5: 53,021,867 (GRCm39) T650A possibly damaging Het
Ash1l C A 3: 88,890,297 (GRCm39) S725R possibly damaging Het
Axdnd1 T A 1: 156,247,917 (GRCm39) K28* probably null Het
C8b C A 4: 104,644,192 (GRCm39) H286Q probably benign Het
Cacna2d1 A G 5: 16,217,396 (GRCm39) K34E probably damaging Het
Ccdc14 T A 16: 34,517,728 (GRCm39) H154Q probably damaging Het
Ccdc184 A G 15: 98,066,393 (GRCm39) D66G probably damaging Het
Ccdc62 A G 5: 124,092,772 (GRCm39) I586V possibly damaging Het
Cfap20dc A G 14: 8,578,361 (GRCm38) I127T possibly damaging Het
Chadl A T 15: 81,578,691 (GRCm39) C313S probably damaging Het
Clec14a C A 12: 58,315,536 (GRCm39) A29S probably damaging Het
Col26a1 C T 5: 136,786,608 (GRCm39) G161D probably benign Het
Cplane1 T C 15: 8,232,811 (GRCm39) V1110A probably benign Het
Ctbp2 A G 7: 132,615,961 (GRCm39) S325P probably damaging Het
Dcaf13 A G 15: 38,993,687 (GRCm39) D260G possibly damaging Het
Dele1 T G 18: 38,394,129 (GRCm39) L442R probably damaging Het
Dhx37 G A 5: 125,499,736 (GRCm39) P575L probably benign Het
Dnajc6 T C 4: 101,408,054 (GRCm39) probably null Het
Eapp T C 12: 54,737,061 (GRCm39) T145A unknown Het
Efcab3 A G 11: 104,722,126 (GRCm39) I1913V probably benign Het
Efcab5 A G 11: 77,012,064 (GRCm39) M730T probably benign Het
Eif4g3 T A 4: 137,917,968 (GRCm39) D1305E probably damaging Het
Endou A T 15: 97,609,946 (GRCm39) V450E probably benign Het
F10 A T 8: 13,098,177 (GRCm39) K127* probably null Het
Fbxw21 A G 9: 108,972,830 (GRCm39) F368S probably damaging Het
Fezf1 A T 6: 23,245,797 (GRCm39) L456Q possibly damaging Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Fyco1 A C 9: 123,623,878 (GRCm39) C1384G probably damaging Het
Gemin5 A G 11: 58,028,574 (GRCm39) V882A probably benign Het
Gm10750 A G 2: 148,858,107 (GRCm39) L48P unknown Het
Gm16503 T A 4: 147,625,571 (GRCm39) F22I unknown Het
Hdac10 A G 15: 89,010,480 (GRCm39) C281R probably damaging Het
Hikeshi T C 7: 89,584,968 (GRCm39) S79G probably damaging Het
Ifitm2 AG A 7: 140,535,814 (GRCm39) probably null Het
Itpr3 A G 17: 27,330,191 (GRCm39) E1603G probably damaging Het
Lrrc37a A T 11: 103,395,359 (GRCm39) V22E probably benign Het
Man1a C T 10: 53,809,587 (GRCm39) probably null Het
Mdga1 A G 17: 30,058,871 (GRCm39) L5P probably damaging Het
Mup6 A G 4: 60,004,838 (GRCm39) I76M probably benign Het
Nbea A T 3: 55,998,513 (GRCm39) M98K probably benign Het
Nckap1l A G 15: 103,381,966 (GRCm39) E454G probably damaging Het
Notch3 A T 17: 32,362,665 (GRCm39) L1320Q probably benign Het
Nrn1 A T 13: 36,910,648 (GRCm39) L128H probably damaging Het
Numa1 T C 7: 101,644,623 (GRCm39) S200P possibly damaging Het
Numa1 A G 7: 101,662,003 (GRCm39) D1898G probably damaging Het
Or10ag58 G A 2: 87,265,010 (GRCm39) A60T probably benign Het
Or1af1 T C 2: 37,110,122 (GRCm39) I207T possibly damaging Het
Or2ag18 A T 7: 106,405,605 (GRCm39) S21R possibly damaging Het
Or5i1 A C 2: 87,612,867 (GRCm39) probably null Het
P2ry6 A T 7: 100,588,133 (GRCm39) Y75* probably null Het
Pbrm1 T A 14: 30,806,760 (GRCm39) C1062* probably null Het
Pcdh15 A G 10: 74,479,560 (GRCm39) E557G unknown Het
Pcdh7 T C 5: 57,878,677 (GRCm39) L744P probably benign Het
Plekhg3 A T 12: 76,609,052 (GRCm39) I142L possibly damaging Het
Plk4 C T 3: 40,766,326 (GRCm39) H695Y probably damaging Het
Pms1 T C 1: 53,247,216 (GRCm39) H243R probably benign Het
Prdm14 T C 1: 13,192,707 (GRCm39) D344G possibly damaging Het
R3hdml A G 2: 163,344,252 (GRCm39) I214V probably benign Het
Rab11fip5 T C 6: 85,325,692 (GRCm39) N238S probably benign Het
Resf1 T A 6: 149,227,930 (GRCm39) N325K probably benign Het
Sacs T A 14: 61,477,768 (GRCm39) Y732N possibly damaging Het
Scfd1 T A 12: 51,440,649 (GRCm39) M187K possibly damaging Het
Serpina1d A G 12: 103,734,257 (GRCm39) C16R probably damaging Het
Slc2a12 T C 10: 22,540,994 (GRCm39) I283T possibly damaging Het
Smarca5 A G 8: 81,446,432 (GRCm39) Y423H probably damaging Het
Srrm3 C A 5: 135,897,115 (GRCm39) A366E unknown Het
St7 A T 6: 17,844,913 (GRCm39) K134* probably null Het
St8sia5 T G 18: 77,342,525 (GRCm39) C412G probably damaging Het
Tanc2 A T 11: 105,777,284 (GRCm39) I821F probably damaging Het
Tbrg4 A G 11: 6,574,204 (GRCm39) M6T probably benign Het
Tcf20 A T 15: 82,736,897 (GRCm39) I1518N probably benign Het
Tctn3 A G 19: 40,595,720 (GRCm39) V355A probably benign Het
Tenm2 A T 11: 35,915,327 (GRCm39) F2070Y probably damaging Het
Tex2 A G 11: 106,459,361 (GRCm39) V23A probably damaging Het
Thrsp C G 7: 97,066,281 (GRCm39) E144Q probably damaging Het
Tmt1a A G 15: 100,211,014 (GRCm39) E213G probably damaging Het
Top2a A C 11: 98,891,904 (GRCm39) S1114A probably benign Het
Tpm1 A G 9: 66,936,998 (GRCm39) Y267H probably benign Het
Txndc2 G T 17: 65,946,019 (GRCm39) P53T unknown Het
Ugt2b36 A T 5: 87,228,876 (GRCm39) I389N probably damaging Het
Virma C T 4: 11,513,507 (GRCm39) R454* probably null Het
Vwa3b T A 1: 37,074,882 (GRCm39) H16Q probably damaging Het
Zbp1 A G 2: 173,052,436 (GRCm39) M240T possibly damaging Het
Other mutations in Galnt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02024:Galnt6 APN 15 100,601,374 (GRCm39) missense probably benign 0.16
IGL02606:Galnt6 APN 15 100,612,100 (GRCm39) missense probably damaging 1.00
R0325:Galnt6 UTSW 15 100,591,352 (GRCm39) splice site probably null
R0336:Galnt6 UTSW 15 100,597,087 (GRCm39) missense probably damaging 0.99
R0504:Galnt6 UTSW 15 100,594,538 (GRCm39) splice site probably benign
R1563:Galnt6 UTSW 15 100,601,259 (GRCm39) missense probably benign 0.00
R1903:Galnt6 UTSW 15 100,613,999 (GRCm39) missense possibly damaging 0.79
R2007:Galnt6 UTSW 15 100,595,047 (GRCm39) missense probably damaging 1.00
R2114:Galnt6 UTSW 15 100,612,122 (GRCm39) missense probably damaging 1.00
R2943:Galnt6 UTSW 15 100,612,160 (GRCm39) splice site probably null
R3410:Galnt6 UTSW 15 100,597,018 (GRCm39) missense probably damaging 1.00
R3954:Galnt6 UTSW 15 100,595,049 (GRCm39) missense possibly damaging 0.72
R4754:Galnt6 UTSW 15 100,597,105 (GRCm39) missense probably damaging 1.00
R4910:Galnt6 UTSW 15 100,614,059 (GRCm39) missense probably benign
R4911:Galnt6 UTSW 15 100,614,059 (GRCm39) missense probably benign
R4962:Galnt6 UTSW 15 100,594,455 (GRCm39) nonsense probably null
R5237:Galnt6 UTSW 15 100,591,274 (GRCm39) missense probably damaging 1.00
R5293:Galnt6 UTSW 15 100,601,382 (GRCm39) missense probably benign 0.00
R5605:Galnt6 UTSW 15 100,595,106 (GRCm39) missense probably damaging 1.00
R5752:Galnt6 UTSW 15 100,602,007 (GRCm39) missense probably damaging 1.00
R5837:Galnt6 UTSW 15 100,592,527 (GRCm39) missense possibly damaging 0.70
R5949:Galnt6 UTSW 15 100,594,431 (GRCm39) missense probably damaging 1.00
R6051:Galnt6 UTSW 15 100,592,549 (GRCm39) missense probably damaging 1.00
R6306:Galnt6 UTSW 15 100,591,305 (GRCm39) missense possibly damaging 0.70
R6522:Galnt6 UTSW 15 100,591,236 (GRCm39) makesense probably null
R6959:Galnt6 UTSW 15 100,612,006 (GRCm39) missense probably damaging 0.99
R7154:Galnt6 UTSW 15 100,591,345 (GRCm39) missense probably benign 0.05
R7450:Galnt6 UTSW 15 100,595,696 (GRCm39) missense probably damaging 1.00
R7834:Galnt6 UTSW 15 100,611,984 (GRCm39) missense probably damaging 1.00
R7908:Galnt6 UTSW 15 100,601,242 (GRCm39) missense probably damaging 1.00
R8143:Galnt6 UTSW 15 100,614,088 (GRCm39) missense probably damaging 0.98
R8212:Galnt6 UTSW 15 100,591,308 (GRCm39) missense probably benign 0.35
R8683:Galnt6 UTSW 15 100,592,603 (GRCm39) missense probably damaging 1.00
R8712:Galnt6 UTSW 15 100,592,501 (GRCm39) missense probably benign 0.01
R8906:Galnt6 UTSW 15 100,601,247 (GRCm39) missense probably damaging 1.00
R9794:Galnt6 UTSW 15 100,595,859 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTGTTTCCAGTGGGGCAG -3'
(R):5'- TGGCCACAGACAGGGTTTC -3'

Sequencing Primer
(F):5'- GCAGGGGCTTCTCCTCAG -3'
(R):5'- CTCACCTTCTGTGGGCAG -3'
Posted On 2022-03-25