Incidental Mutation 'R6490:Galnt14'
ID 522833
Institutional Source Beutler Lab
Gene Symbol Galnt14
Ensembl Gene ENSMUSG00000024064
Gene Name polypeptide N-acetylgalactosaminyltransferase 14
Synonyms 0610033M06Rik
MMRRC Submission 044622-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R6490 (G1)
Quality Score 185.009
Status Validated
Chromosome 17
Chromosomal Location 73800223-74017448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73832365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 250 (D250G)
Ref Sequence ENSEMBL: ENSMUSP00000024858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024858] [ENSMUST00000112591]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024858
AA Change: D250G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024858
Gene: ENSMUSG00000024064
AA Change: D250G

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 111 359 1.4e-10 PFAM
Pfam:Glycos_transf_2 114 294 7.5e-30 PFAM
Pfam:Glyco_tranf_2_2 114 333 1.5e-8 PFAM
Pfam:Glyco_transf_7C 271 340 7e-8 PFAM
RICIN 420 548 7.23e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112591
AA Change: D250G

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108210
Gene: ENSMUSG00000024064
AA Change: D250G

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 111 359 1.1e-10 PFAM
Pfam:Glycos_transf_2 114 291 2.4e-27 PFAM
Pfam:Glyco_tranf_2_2 114 333 1.7e-8 PFAM
Pfam:Glyco_transf_7C 270 340 9e-8 PFAM
low complexity region 415 429 N/A INTRINSIC
Meta Mutation Damage Score 0.6719 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous mutant mice exhibit enhanced motor coordination during inverted screen testing when compared with controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik T G 8: 122,267,293 (GRCm39) K38T probably benign Het
Abca13 A G 11: 9,248,661 (GRCm39) T2803A probably benign Het
Adam23 A G 1: 63,596,613 (GRCm39) D565G probably damaging Het
Adcy3 A G 12: 4,262,150 (GRCm39) T1067A probably damaging Het
Agrn A T 4: 156,251,819 (GRCm39) Y1921* probably null Het
Apc2 A G 10: 80,149,757 (GRCm39) N1604D probably benign Het
Atxn7 A T 14: 14,089,446 (GRCm38) R321* probably null Het
Axin1 T A 17: 26,361,968 (GRCm39) I104N probably damaging Het
Bahd1 T C 2: 118,747,619 (GRCm39) S413P probably benign Het
Baz2b C T 2: 59,732,073 (GRCm39) C2024Y probably damaging Het
Cacna1i T A 15: 80,262,448 (GRCm39) V1388E probably damaging Het
Ces4a G A 8: 105,876,090 (GRCm39) V544M probably benign Het
Cntn3 G A 6: 102,255,301 (GRCm39) T199I probably damaging Het
Col6a4 A T 9: 105,952,191 (GRCm39) L569* probably null Het
Ctnna2 A G 6: 77,120,892 (GRCm39) I12T probably benign Het
Dhx37 A G 5: 125,496,196 (GRCm39) M754T probably benign Het
Dmrt1 T A 19: 25,523,395 (GRCm39) S249T possibly damaging Het
Ell G T 8: 71,025,553 (GRCm39) S59I probably damaging Het
Fam89a G A 8: 125,467,982 (GRCm39) S110F probably damaging Het
Fer1l4 A C 2: 155,889,834 (GRCm39) F278V possibly damaging Het
Fyn T C 10: 39,427,398 (GRCm39) I427T probably damaging Het
Glp1r T C 17: 31,143,546 (GRCm39) V194A probably damaging Het
Glt1d1 T A 5: 127,721,360 (GRCm39) probably null Het
Gm7995 A G 14: 42,133,327 (GRCm39) K69R probably benign Het
Grip1 A G 10: 119,822,329 (GRCm39) T379A possibly damaging Het
Gtpbp2 G T 17: 46,479,147 (GRCm39) A570S probably benign Het
Hmcn1 T C 1: 150,459,029 (GRCm39) I5192V probably benign Het
Igfl3 A T 7: 17,913,844 (GRCm39) I65F possibly damaging Het
Igsf10 G T 3: 59,236,992 (GRCm39) T1063K probably benign Het
Itfg1 A G 8: 86,466,930 (GRCm39) V381A probably benign Het
Itprid1 A G 6: 55,953,405 (GRCm39) D907G probably damaging Het
Jmjd8 T A 17: 26,048,086 (GRCm39) V16E probably benign Het
Kank1 A G 19: 25,387,449 (GRCm39) Y374C probably damaging Het
Kcnma1 C T 14: 23,386,165 (GRCm39) V891I possibly damaging Het
Kif20a C A 18: 34,762,543 (GRCm39) T472K possibly damaging Het
Klhl32 A T 4: 24,711,578 (GRCm39) probably benign Het
Lrrc37a A G 11: 103,347,486 (GRCm39) S3070P unknown Het
Mettl21e T G 1: 44,249,425 (GRCm39) Y77S probably damaging Het
Mlst8 G T 17: 24,696,935 (GRCm39) D82E probably benign Het
Mrgprx2 A T 7: 48,132,617 (GRCm39) L67Q probably damaging Het
Mylk T A 16: 34,750,237 (GRCm39) L1192Q possibly damaging Het
Myt1l A T 12: 29,882,365 (GRCm39) Y520F unknown Het
Naip2 A T 13: 100,297,193 (GRCm39) W948R probably benign Het
Nlrp9a A C 7: 26,250,311 (GRCm39) K25N probably damaging Het
Nsd3 T C 8: 26,204,212 (GRCm39) C414R probably damaging Het
Oit3 A T 10: 59,274,374 (GRCm39) V142D possibly damaging Het
Or2aj6 C T 16: 19,443,194 (GRCm39) V219M probably benign Het
P2ry6 T C 7: 100,587,580 (GRCm39) T260A probably damaging Het
Papola A G 12: 105,771,196 (GRCm39) Q87R probably benign Het
Pla2g4a T A 1: 149,727,086 (GRCm39) R557* probably null Het
Rgs13 G T 1: 144,016,576 (GRCm39) H56N probably damaging Het
Sbf1 T C 15: 89,189,111 (GRCm39) S537G probably benign Het
Sntg1 A C 1: 8,653,508 (GRCm39) L243R possibly damaging Het
Spata31h1 A T 10: 82,125,138 (GRCm39) L2624Q possibly damaging Het
Stam2 T C 2: 52,610,954 (GRCm39) T23A probably benign Het
Tbl1xr1 C A 3: 22,258,141 (GRCm39) H467Q probably damaging Het
Tmem131l A G 3: 83,820,587 (GRCm39) S1222P possibly damaging Het
Tmem43 G T 6: 91,455,759 (GRCm39) Q123H probably damaging Het
Tmem43 T A 6: 91,463,862 (GRCm39) I379N possibly damaging Het
Trim43c A T 9: 88,727,003 (GRCm39) I277F possibly damaging Het
Ttn A G 2: 76,703,211 (GRCm39) probably benign Het
Vmn1r75 T A 7: 11,615,003 (GRCm39) V245D probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vps53 A T 11: 75,967,881 (GRCm39) M414K probably benign Het
Wrn T G 8: 33,809,248 (GRCm39) L249F probably benign Het
Zc3h13 TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT TGATGTCCGGGATGTCCGGGATGTCCGGGATGT 14: 75,560,998 (GRCm39) probably benign Het
Zfp454 T C 11: 50,764,950 (GRCm39) N161D probably benign Het
Zfp619 G A 7: 39,183,586 (GRCm39) G60R probably benign Het
Zfp623 T A 15: 75,820,308 (GRCm39) H421Q probably damaging Het
Zfp827 A G 8: 79,916,606 (GRCm39) probably benign Het
Other mutations in Galnt14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Galnt14 APN 17 73,801,227 (GRCm39) missense probably damaging 1.00
IGL01295:Galnt14 APN 17 73,811,914 (GRCm39) missense probably benign 0.01
IGL01578:Galnt14 APN 17 73,842,361 (GRCm39) splice site probably benign
IGL01833:Galnt14 APN 17 73,811,899 (GRCm39) missense probably benign
IGL02572:Galnt14 APN 17 73,842,262 (GRCm39) missense probably damaging 1.00
IGL02890:Galnt14 APN 17 73,816,519 (GRCm39) critical splice donor site probably null
IGL03145:Galnt14 APN 17 73,811,903 (GRCm39) missense possibly damaging 0.63
IGL03175:Galnt14 APN 17 73,829,649 (GRCm39) missense probably damaging 1.00
R0051:Galnt14 UTSW 17 73,814,854 (GRCm39) missense probably benign 0.00
R0112:Galnt14 UTSW 17 73,881,979 (GRCm39) splice site probably benign
R0167:Galnt14 UTSW 17 73,829,715 (GRCm39) missense probably damaging 1.00
R0525:Galnt14 UTSW 17 73,852,076 (GRCm39) missense probably damaging 1.00
R0675:Galnt14 UTSW 17 73,852,030 (GRCm39) missense probably damaging 1.00
R1192:Galnt14 UTSW 17 73,852,133 (GRCm39) splice site probably benign
R1335:Galnt14 UTSW 17 73,833,285 (GRCm39) missense probably damaging 1.00
R1549:Galnt14 UTSW 17 73,832,308 (GRCm39) missense possibly damaging 0.79
R1824:Galnt14 UTSW 17 74,016,934 (GRCm39) missense probably benign 0.01
R2061:Galnt14 UTSW 17 73,819,148 (GRCm39) missense probably damaging 1.00
R2259:Galnt14 UTSW 17 73,801,261 (GRCm39) missense probably benign 0.00
R3844:Galnt14 UTSW 17 74,016,924 (GRCm39) critical splice donor site probably null
R4257:Galnt14 UTSW 17 73,811,899 (GRCm39) missense probably benign
R4364:Galnt14 UTSW 17 73,819,154 (GRCm39) missense probably damaging 0.99
R4664:Galnt14 UTSW 17 73,814,808 (GRCm39) intron probably benign
R4744:Galnt14 UTSW 17 73,814,828 (GRCm39) missense probably damaging 1.00
R4810:Galnt14 UTSW 17 73,819,116 (GRCm39) missense probably damaging 0.99
R4840:Galnt14 UTSW 17 73,811,893 (GRCm39) missense probably benign 0.01
R4846:Galnt14 UTSW 17 73,843,888 (GRCm39) missense probably benign 0.19
R5328:Galnt14 UTSW 17 73,812,454 (GRCm39) missense possibly damaging 0.46
R5507:Galnt14 UTSW 17 73,802,661 (GRCm39) missense probably damaging 0.98
R5816:Galnt14 UTSW 17 73,881,877 (GRCm39) missense probably damaging 1.00
R5872:Galnt14 UTSW 17 73,881,826 (GRCm39) missense probably damaging 1.00
R5933:Galnt14 UTSW 17 73,833,300 (GRCm39) missense probably benign 0.01
R7117:Galnt14 UTSW 17 73,801,190 (GRCm39) missense probably benign 0.00
R7128:Galnt14 UTSW 17 73,852,096 (GRCm39) missense probably benign
R7451:Galnt14 UTSW 17 73,881,804 (GRCm39) missense probably benign 0.00
R7604:Galnt14 UTSW 17 73,811,916 (GRCm39) missense possibly damaging 0.94
R7786:Galnt14 UTSW 17 74,016,976 (GRCm39) missense probably benign 0.00
R8693:Galnt14 UTSW 17 73,833,257 (GRCm39) missense probably damaging 1.00
R9573:Galnt14 UTSW 17 73,802,662 (GRCm39) missense probably damaging 1.00
X0067:Galnt14 UTSW 17 73,816,521 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ACACCTAGCATGGACTTTTCTC -3'
(R):5'- AACTCCATAGGCTAGAGTGGG -3'

Sequencing Primer
(F):5'- TCTCAACCATGGTGCAGTAG -3'
(R):5'- CAGAGTAACTTTGGTGACCCTGC -3'
Posted On 2018-06-06