Incidental Mutation 'R0379:Galnt13'
ID 30841
Institutional Source Beutler Lab
Gene Symbol Galnt13
Ensembl Gene ENSMUSG00000060988
Gene Name polypeptide N-acetylgalactosaminyltransferase 13
Synonyms pp-GalNAc-T13
MMRRC Submission 038585-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R0379 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 54326329-55008321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54950504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 395 (V395A)
Ref Sequence ENSEMBL: ENSMUSP00000108255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068595] [ENSMUST00000112634] [ENSMUST00000112635] [ENSMUST00000112636]
AlphaFold Q8CF93
Predicted Effect possibly damaging
Transcript: ENSMUST00000068595
AA Change: V395A

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: V395A

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 115 368 1.5e-11 PFAM
Pfam:Glycos_transf_2 118 302 7.4e-35 PFAM
Pfam:Glyco_tranf_2_2 118 343 3.1e-7 PFAM
Pfam:Glyco_transf_7C 280 348 4.8e-9 PFAM
RICIN 427 550 9.63e-34 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112634
AA Change: V395A

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: V395A

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 115 367 2.7e-10 PFAM
Pfam:Glycos_transf_2 118 302 1.8e-38 PFAM
Pfam:Glyco_tranf_2_2 118 343 3.2e-7 PFAM
Pfam:Glyco_transf_7C 280 348 4.9e-10 PFAM
RICIN 427 586 5.34e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112635
AA Change: V395A

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: V395A

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 115 368 1.5e-11 PFAM
Pfam:Glycos_transf_2 118 302 7.4e-35 PFAM
Pfam:Glyco_tranf_2_2 118 343 3.1e-7 PFAM
Pfam:Glyco_transf_7C 280 348 4.8e-9 PFAM
RICIN 427 550 9.63e-34 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112636
AA Change: V395A

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: V395A

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 115 368 1.5e-11 PFAM
Pfam:Glycos_transf_2 118 302 7.4e-35 PFAM
Pfam:Glyco_tranf_2_2 118 343 3.1e-7 PFAM
Pfam:Glyco_transf_7C 280 348 4.8e-9 PFAM
RICIN 427 550 9.63e-34 SMART
Meta Mutation Damage Score 0.1690 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 98% (79/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM, Apr 2004]
PHENOTYPE: Galnt13 is expressed exclusively in neuronal cells. Conditional animals can be used with cre-expressing strains to produce total or tissue-specific deletion of this locus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik A G 11: 11,539,365 (GRCm39) probably benign Het
Apba1 A C 19: 23,912,194 (GRCm39) N558T probably damaging Het
Arfgef2 T A 2: 166,702,320 (GRCm39) probably null Het
Arsb T C 13: 94,077,135 (GRCm39) S501P probably benign Het
Atp10b A G 11: 43,145,141 (GRCm39) T1295A probably benign Het
Atp8b5 G T 4: 43,361,898 (GRCm39) R648L probably damaging Het
Bcl2a1b T C 9: 89,081,789 (GRCm39) I126T possibly damaging Het
Brd9 T C 13: 74,090,802 (GRCm39) probably benign Het
Cd93 T C 2: 148,283,430 (GRCm39) probably benign Het
Chd5 A G 4: 152,467,778 (GRCm39) K1692R probably benign Het
Clcn4 T C 7: 7,299,791 (GRCm39) T13A probably damaging Het
Clec14a A G 12: 58,315,580 (GRCm39) F14S possibly damaging Het
Clec4g A G 8: 3,768,440 (GRCm39) V97A probably benign Het
Col24a1 G A 3: 145,229,897 (GRCm39) R1483K possibly damaging Het
Crem A T 18: 3,299,226 (GRCm39) V82D probably damaging Het
Ctnna2 T A 6: 77,618,423 (GRCm39) T180S probably benign Het
Cybrd1 T C 2: 70,960,099 (GRCm39) I99T probably benign Het
Cyp4a32 G A 4: 115,478,671 (GRCm39) V468M probably damaging Het
Dlk1 A G 12: 109,420,985 (GRCm39) probably benign Het
Dnaaf9 C T 2: 130,627,466 (GRCm39) probably benign Het
Dnah7b A T 1: 46,179,336 (GRCm39) Y1003F probably benign Het
Egfem1 A C 3: 29,722,399 (GRCm39) E376A possibly damaging Het
Etl4 T A 2: 20,812,165 (GRCm39) I1416K probably damaging Het
Fbxl4 A G 4: 22,386,106 (GRCm39) T238A probably benign Het
Fer1l6 A G 15: 58,420,187 (GRCm39) I33M probably benign Het
Fndc3a A G 14: 72,794,049 (GRCm39) S830P probably damaging Het
Fras1 C T 5: 96,903,368 (GRCm39) R3082* probably null Het
Gpd2 C T 2: 57,235,275 (GRCm39) T335I probably damaging Het
Gucy2d C A 7: 98,108,209 (GRCm39) probably null Het
Hydin A G 8: 111,235,759 (GRCm39) probably benign Het
Ints5 G T 19: 8,874,497 (GRCm39) V819L possibly damaging Het
Klhdc10 C G 6: 30,450,669 (GRCm39) Q292E possibly damaging Het
Lmbrd2 G A 15: 9,149,566 (GRCm39) A67T probably benign Het
Lrp1 T G 10: 127,430,838 (GRCm39) T404P probably damaging Het
Marchf7 T C 2: 60,064,470 (GRCm39) S249P probably benign Het
Mcm10 T A 2: 5,013,434 (GRCm39) K66M probably benign Het
Mtmr7 C A 8: 41,004,642 (GRCm39) D645Y probably damaging Het
Muc6 T A 7: 141,216,868 (GRCm39) I2602F possibly damaging Het
Myh13 G A 11: 67,260,121 (GRCm39) probably benign Het
Myo18a G A 11: 77,741,632 (GRCm39) V1776I possibly damaging Het
Ncapg2 T C 12: 116,406,695 (GRCm39) L957S probably damaging Het
Ncoa3 T C 2: 165,896,422 (GRCm39) S442P probably damaging Het
Or5t5 G A 2: 86,616,079 (GRCm39) E2K probably benign Het
Or6x1 G A 9: 40,098,729 (GRCm39) G106D probably damaging Het
Or7g32 T A 9: 19,388,776 (GRCm39) T257S possibly damaging Het
Pdcd6 G T 13: 74,457,831 (GRCm39) N113K possibly damaging Het
Pfkfb4 C T 9: 108,856,810 (GRCm39) probably benign Het
Pfkm A G 15: 98,024,195 (GRCm39) H401R probably benign Het
Phldb2 C A 16: 45,601,814 (GRCm39) D754Y probably damaging Het
Plekhb2 T A 1: 34,902,195 (GRCm39) M49K probably damaging Het
Polrmt A G 10: 79,573,445 (GRCm39) S1057P possibly damaging Het
Prps1l1 A G 12: 35,035,077 (GRCm39) N64S probably benign Het
Prss3l T G 6: 41,422,190 (GRCm39) probably benign Het
Psg16 T C 7: 16,864,583 (GRCm39) S393P probably benign Het
Rundc1 C T 11: 101,315,973 (GRCm39) T15I probably benign Het
Scaf11 A G 15: 96,329,697 (GRCm39) L143S probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Serpinf1 T G 11: 75,304,771 (GRCm39) I197L probably benign Het
Siglec1 C T 2: 130,916,445 (GRCm39) probably benign Het
Slc28a1 G A 7: 80,787,925 (GRCm39) V271I probably benign Het
Sntg1 T C 1: 8,853,048 (GRCm39) D34G probably damaging Het
Sptbn4 A T 7: 27,059,161 (GRCm39) probably benign Het
Suclg1 T C 6: 73,233,211 (GRCm39) I51T possibly damaging Het
Syne1 C T 10: 5,491,989 (GRCm39) R9Q probably damaging Het
Trim47 T A 11: 115,997,344 (GRCm39) H470L probably damaging Het
Ttc41 T A 10: 86,548,841 (GRCm39) Y12N possibly damaging Het
Tubgcp2 T C 7: 139,612,105 (GRCm39) E69G probably damaging Het
Tubgcp3 G A 8: 12,691,116 (GRCm39) T474M probably damaging Het
Ubr5 A T 15: 38,019,201 (GRCm39) N777K probably benign Het
Ush2a T C 1: 188,184,016 (GRCm39) L1440P probably damaging Het
Usp28 A C 9: 48,935,367 (GRCm39) D458A possibly damaging Het
Vcan A T 13: 89,851,665 (GRCm39) D1098E probably damaging Het
Vmn1r73 C T 7: 11,490,773 (GRCm39) T197I probably benign Het
Vmn2r15 T C 5: 109,434,344 (GRCm39) S787G probably damaging Het
Vmn2r90 T A 17: 17,948,401 (GRCm39) I549N probably damaging Het
Vps33b T A 7: 79,933,162 (GRCm39) probably null Het
Zfp516 A T 18: 83,005,795 (GRCm39) K900* probably null Het
Zfp974 T A 7: 27,610,357 (GRCm39) N456I probably damaging Het
Other mutations in Galnt13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Galnt13 APN 2 54,406,547 (GRCm39) utr 5 prime probably benign
IGL00769:Galnt13 APN 2 54,770,116 (GRCm39) missense probably benign 0.37
IGL01533:Galnt13 APN 2 54,770,144 (GRCm39) missense probably damaging 1.00
IGL01862:Galnt13 APN 2 54,747,926 (GRCm39) missense probably damaging 1.00
IGL02363:Galnt13 APN 2 55,002,872 (GRCm39) missense probably damaging 1.00
IGL02493:Galnt13 APN 2 54,770,149 (GRCm39) missense probably benign 0.05
IGL03108:Galnt13 APN 2 54,744,660 (GRCm39) missense probably benign 0.02
IGL03219:Galnt13 APN 2 54,823,447 (GRCm39) missense possibly damaging 0.85
G1patch:Galnt13 UTSW 2 54,745,244 (GRCm39) missense probably damaging 1.00
R0142:Galnt13 UTSW 2 54,988,615 (GRCm39) missense probably damaging 1.00
R0324:Galnt13 UTSW 2 54,744,628 (GRCm39) missense probably benign 0.01
R1321:Galnt13 UTSW 2 54,988,606 (GRCm39) missense probably damaging 0.98
R1509:Galnt13 UTSW 2 54,623,094 (GRCm39) missense probably damaging 1.00
R1521:Galnt13 UTSW 2 54,744,657 (GRCm39) missense probably benign
R1539:Galnt13 UTSW 2 54,747,869 (GRCm39) missense probably damaging 1.00
R1638:Galnt13 UTSW 2 54,744,667 (GRCm39) missense probably damaging 1.00
R1640:Galnt13 UTSW 2 54,950,558 (GRCm39) missense probably damaging 1.00
R2299:Galnt13 UTSW 2 54,950,595 (GRCm39) missense possibly damaging 0.61
R2365:Galnt13 UTSW 2 54,744,709 (GRCm39) missense possibly damaging 0.85
R2367:Galnt13 UTSW 2 55,002,956 (GRCm39) missense probably benign 0.00
R3687:Galnt13 UTSW 2 54,770,074 (GRCm39) missense probably benign 0.31
R3726:Galnt13 UTSW 2 54,988,669 (GRCm39) missense probably damaging 1.00
R3730:Galnt13 UTSW 2 54,823,519 (GRCm39) missense possibly damaging 0.91
R3731:Galnt13 UTSW 2 54,823,519 (GRCm39) missense possibly damaging 0.91
R4626:Galnt13 UTSW 2 54,747,878 (GRCm39) missense probably damaging 1.00
R4880:Galnt13 UTSW 2 54,950,584 (GRCm39) missense probably damaging 1.00
R4928:Galnt13 UTSW 2 54,406,577 (GRCm39) missense probably damaging 1.00
R5421:Galnt13 UTSW 2 54,747,908 (GRCm39) missense probably damaging 1.00
R6136:Galnt13 UTSW 2 54,406,491 (GRCm39) start gained probably benign
R6244:Galnt13 UTSW 2 54,823,560 (GRCm39) missense probably damaging 1.00
R6725:Galnt13 UTSW 2 54,745,244 (GRCm39) missense probably damaging 1.00
R7058:Galnt13 UTSW 2 54,988,587 (GRCm39) missense probably damaging 0.99
R7448:Galnt13 UTSW 2 54,406,576 (GRCm39) missense possibly damaging 0.94
R7635:Galnt13 UTSW 2 54,747,829 (GRCm39) missense probably damaging 1.00
R7889:Galnt13 UTSW 2 55,002,873 (GRCm39) missense probably benign 0.02
R8003:Galnt13 UTSW 2 54,950,497 (GRCm39) nonsense probably null
R8207:Galnt13 UTSW 2 54,770,122 (GRCm39) missense probably benign 0.00
R8525:Galnt13 UTSW 2 54,950,488 (GRCm39) missense possibly damaging 0.95
R8539:Galnt13 UTSW 2 54,823,584 (GRCm39) splice site probably null
R8885:Galnt13 UTSW 2 54,770,138 (GRCm39) missense probably benign
R8946:Galnt13 UTSW 2 54,770,075 (GRCm39) missense probably benign 0.29
R9306:Galnt13 UTSW 2 54,823,569 (GRCm39) missense probably benign 0.01
R9340:Galnt13 UTSW 2 54,770,161 (GRCm39) missense probably damaging 1.00
R9362:Galnt13 UTSW 2 54,623,064 (GRCm39) missense probably benign 0.00
R9444:Galnt13 UTSW 2 55,002,928 (GRCm39) missense probably benign
R9590:Galnt13 UTSW 2 54,747,973 (GRCm39) missense probably benign 0.02
R9779:Galnt13 UTSW 2 54,623,062 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTGAGAAAGCCTTAGTTTAGTGGCAAC -3'
(R):5'- TTTCCCACATTAAAGACCTTCACAGTCC -3'

Sequencing Primer
(F):5'- CCTTAGTTTAGTGGCAACTGTATG -3'
(R):5'- GACCTTCACAGTCCTTGAAAAAATG -3'
Posted On 2013-04-24