Incidental Mutation 'R8885:Galnt13'
ID 677207
Institutional Source Beutler Lab
Gene Symbol Galnt13
Ensembl Gene ENSMUSG00000060988
Gene Name polypeptide N-acetylgalactosaminyltransferase 13
Synonyms pp-GalNAc-T13
MMRRC Submission 068751-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R8885 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 54326329-55008321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 54770138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 310 (A310E)
Ref Sequence ENSEMBL: ENSMUSP00000108253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068595] [ENSMUST00000112634] [ENSMUST00000112635] [ENSMUST00000112636]
AlphaFold Q8CF93
Predicted Effect probably benign
Transcript: ENSMUST00000068595
AA Change: A310E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: A310E

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 probably benign
Transcript: ENSMUST00000112634
AA Change: A310E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: A310E

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 probably benign
Transcript: ENSMUST00000112635
AA Change: A310E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: A310E

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 probably benign
Transcript: ENSMUST00000112636
AA Change: A310E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: A310E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (104/104)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,471,525 (GRCm39) S977C possibly damaging Het
Abca8a T A 11: 109,960,305 (GRCm39) D646V probably damaging Het
Adss2 T A 1: 177,597,526 (GRCm39) Y378F probably damaging Het
Akap6 C T 12: 53,188,319 (GRCm39) A1911V probably benign Het
Alg2 T C 4: 47,474,159 (GRCm39) Y43C probably benign Het
Alk A C 17: 72,202,758 (GRCm39) V1159G probably damaging Het
Alx3 A T 3: 107,508,010 (GRCm39) Q173L probably damaging Het
Aqp9 A G 9: 71,069,593 (GRCm39) probably benign Het
Atf7ip C A 6: 136,564,141 (GRCm39) L787I probably benign Het
Bbs9 A T 9: 22,590,234 (GRCm39) E657D possibly damaging Het
Bean1 G A 8: 104,908,752 (GRCm39) probably null Het
Cactin G T 10: 81,157,082 (GRCm39) R13L unknown Het
Ccdc178 T C 18: 22,200,721 (GRCm39) E412G probably damaging Het
Ccdc30 A G 4: 119,181,759 (GRCm39) I583T probably damaging Het
Ccl8 T C 11: 82,006,933 (GRCm39) Y49H probably damaging Het
Clptm1 T A 7: 19,372,932 (GRCm39) K199N probably damaging Het
Cnbp G A 6: 87,822,646 (GRCm39) S39L probably benign Het
Cnih3 T A 1: 181,237,437 (GRCm39) probably benign Het
Cnksr3 A T 10: 7,090,201 (GRCm39) probably benign Het
Cntn1 A G 15: 92,159,380 (GRCm39) I512V probably benign Het
Col20a1 A G 2: 180,640,296 (GRCm39) probably benign Het
Col28a1 A T 6: 8,127,360 (GRCm39) probably benign Het
Col6a2 A T 10: 76,450,741 (GRCm39) Y63* probably null Het
Copa T G 1: 171,925,312 (GRCm39) F190V probably damaging Het
Crisp4 A C 1: 18,207,148 (GRCm39) probably benign Het
Cxcl2 C T 5: 91,052,085 (GRCm39) Q64* probably null Het
Cxcr5 T C 9: 44,425,549 (GRCm39) D36G probably benign Het
Cyp20a1 T A 1: 60,411,765 (GRCm39) V271E possibly damaging Het
D430041D05Rik T C 2: 104,071,538 (GRCm39) Y570C probably damaging Het
Ddi1 T G 9: 6,266,198 (GRCm39) D57A probably benign Het
Ddx11 T A 17: 66,450,460 (GRCm39) S492T probably benign Het
Dhx34 C T 7: 15,950,376 (GRCm39) R264H probably damaging Het
Dnah3 T A 7: 119,561,375 (GRCm39) I328F Het
Dnah5 C T 15: 28,327,886 (GRCm39) R2087C probably damaging Het
Dnah8 C G 17: 30,927,286 (GRCm39) S1314W possibly damaging Het
Dock2 T C 11: 34,260,396 (GRCm39) N982D probably benign Het
Dync1h1 A G 12: 110,583,172 (GRCm39) D423G probably damaging Het
Ect2l A C 10: 18,048,583 (GRCm39) L213V probably damaging Het
Fam210a T C 18: 68,409,215 (GRCm39) I32V probably benign Het
Fancg A G 4: 43,007,266 (GRCm39) probably null Het
Fastkd5 T C 2: 130,457,111 (GRCm39) E493G probably benign Het
Fbxo38 T C 18: 62,659,272 (GRCm39) M342V probably damaging Het
Flnc A C 6: 29,455,410 (GRCm39) K2020Q probably damaging Het
Flt4 A G 11: 49,527,160 (GRCm39) probably benign Het
Frmd4b G T 6: 97,389,480 (GRCm39) P129T probably benign Het
Gm4884 T A 7: 40,694,108 (GRCm39) Y692* probably null Het
Gm6309 T A 5: 146,105,103 (GRCm39) D270V probably damaging Het
Grip1 G T 10: 119,290,192 (GRCm39) probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kdf1 G T 4: 133,255,505 (GRCm39) C74F probably damaging Het
Kdm1b T A 13: 47,207,184 (GRCm39) C169* probably null Het
Kmt2c G T 5: 25,520,077 (GRCm39) T2011K probably benign Het
Lama1 G A 17: 68,080,779 (GRCm39) G1269E Het
Lamb3 C T 1: 193,017,182 (GRCm39) A791V probably benign Het
Leng9 G T 7: 4,151,774 (GRCm39) R301S possibly damaging Het
Lgr6 C A 1: 134,915,342 (GRCm39) V746L probably benign Het
Lrp5 T A 19: 3,702,170 (GRCm39) S216C probably damaging Het
Ltn1 T C 16: 87,178,433 (GRCm39) T1599A probably damaging Het
Map2k1 G T 9: 64,094,606 (GRCm39) N345K probably damaging Het
Map4k1 T A 7: 28,688,862 (GRCm39) D304E probably benign Het
Mcpt1 C T 14: 56,256,522 (GRCm39) T86I probably damaging Het
Mcpt9 T C 14: 56,265,153 (GRCm39) K116R probably benign Het
Morc2a G T 11: 3,628,584 (GRCm39) A346S probably damaging Het
Mybpc3 A T 2: 90,954,237 (GRCm39) Q370L probably benign Het
Nars2 T C 7: 96,652,095 (GRCm39) S229P probably damaging Het
Ndufa10 A T 1: 92,397,693 (GRCm39) Y118N probably damaging Het
Nek11 A T 9: 105,172,571 (GRCm39) probably null Het
Notch4 T C 17: 34,803,470 (GRCm39) V1463A possibly damaging Het
Nrcam T C 12: 44,610,908 (GRCm39) I536T probably benign Het
Or6c202 T C 10: 128,996,334 (GRCm39) Y173C probably benign Het
Pbld1 A T 10: 62,912,226 (GRCm39) T285S probably benign Het
Pcdhgb8 A T 18: 37,896,177 (GRCm39) T416S possibly damaging Het
Plekhg6 T C 6: 125,351,523 (GRCm39) D242G probably damaging Het
Pnmt T A 11: 98,278,580 (GRCm39) V182D probably benign Het
Ppp1r13b G T 12: 111,799,871 (GRCm39) N758K probably damaging Het
Prex2 A G 1: 11,240,799 (GRCm39) probably benign Het
Prss3 A T 6: 41,354,512 (GRCm39) L7Q probably damaging Het
Prss43 T A 9: 110,660,046 (GRCm39) L370Q probably damaging Het
Rac1 A T 5: 143,493,885 (GRCm39) V104E probably damaging Het
Rgs9 T C 11: 109,166,449 (GRCm39) Y107C probably damaging Het
Rnase13 C T 14: 52,159,940 (GRCm39) W66* probably null Het
Rrp1b G A 17: 32,270,688 (GRCm39) V216I possibly damaging Het
Serinc1 A G 10: 57,395,864 (GRCm39) S309P probably benign Het
Serpine3 T A 14: 62,902,587 (GRCm39) L66Q probably damaging Het
Smc5 C T 19: 23,191,234 (GRCm39) V924M probably damaging Het
Spmip4 A T 6: 50,551,028 (GRCm39) Y474N possibly damaging Het
Srgap1 A T 10: 121,761,545 (GRCm39) probably benign Het
Stab1 T C 14: 30,883,771 (GRCm39) E262G possibly damaging Het
Ston2 A G 12: 91,606,498 (GRCm39) *896R probably null Het
Syt6 A G 3: 103,532,941 (GRCm39) M442V probably benign Het
Tap1 T C 17: 34,408,536 (GRCm39) probably null Het
Tbx3 A C 5: 119,818,624 (GRCm39) S420R probably benign Het
Tespa1 A T 10: 130,198,316 (GRCm39) Q446L probably benign Het
Tifab T C 13: 56,324,108 (GRCm39) M112V probably benign Het
Trpv5 A T 6: 41,630,192 (GRCm39) S633T possibly damaging Het
Ttn T C 2: 76,684,236 (GRCm39) K838R unknown Het
Ttn A T 2: 76,744,810 (GRCm39) V5413E probably damaging Het
Tub C A 7: 108,628,793 (GRCm39) N415K Het
Vmn2r3 T C 3: 64,182,383 (GRCm39) M439V probably benign Het
Vps13c A G 9: 67,850,736 (GRCm39) D2231G probably benign Het
Wbp1 C T 6: 83,096,913 (GRCm39) C118Y unknown Het
Zdhhc20 C T 14: 58,127,671 (GRCm39) probably benign Het
Zfp217 T A 2: 169,956,391 (GRCm39) N869I probably benign Het
Zfp677 T C 17: 21,618,350 (GRCm39) I469T probably benign Het
Zmym2 T A 14: 57,185,329 (GRCm39) probably benign Het
Zzef1 T G 11: 72,687,402 (GRCm39) S94A probably benign 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
R0379:Galnt13 UTSW 2 54,950,504 (GRCm39) missense possibly damaging 0.72
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
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'- AACCTGCAGATTTAACTAGGCATTG -3'
(R):5'- GTGGGGAAAGCTTCAATTAGC -3'

Sequencing Primer
(F):5'- AACTAGGCATTGTTTCTTCAGTG -3'
(R):5'- GCTTCAATTAGCAAATAAGGCTACTC -3'
Posted On 2021-08-02