Incidental Mutation 'R4880:Galnt13'
ID 375189
Institutional Source Beutler Lab
Gene Symbol Galnt13
Ensembl Gene ENSMUSG00000060988
Gene Name polypeptide N-acetylgalactosaminyltransferase 13
Synonyms pp-GalNAc-T13
MMRRC Submission 042489-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R4880 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 54326329-55008321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 54950584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 422 (Q422K)
Ref Sequence ENSEMBL: ENSMUSP00000108255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068595] [ENSMUST00000112634] [ENSMUST00000112635] [ENSMUST00000112636]
AlphaFold Q8CF93
Predicted Effect probably damaging
Transcript: ENSMUST00000068595
AA Change: Q422K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: Q422K

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 damaging
Transcript: ENSMUST00000112634
AA Change: Q422K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: Q422K

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 damaging
Transcript: ENSMUST00000112635
AA Change: Q422K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: Q422K

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 damaging
Transcript: ENSMUST00000112636
AA Change: Q422K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: Q422K

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 0.0934 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 98% (89/91)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,276,529 (GRCm39) I744T possibly damaging Het
Adgrb1 T A 15: 74,458,871 (GRCm39) F1324L possibly damaging Het
Adm A G 7: 110,228,326 (GRCm39) H230R probably benign Het
Ank2 A T 3: 126,840,475 (GRCm39) probably null Het
Arih1 A T 9: 59,344,168 (GRCm39) F156L possibly damaging Het
Atf6b A G 17: 34,873,529 (GRCm39) H660R probably damaging Het
Bcl9l C A 9: 44,420,007 (GRCm39) Q1101K probably benign Het
Ccdc174 G A 6: 91,876,572 (GRCm39) probably benign Het
Ccdc65 A C 15: 98,620,538 (GRCm39) probably null Het
Cela2a T C 4: 141,549,598 (GRCm39) N59S probably benign Het
Cfap157 A T 2: 32,668,261 (GRCm39) V393E probably damaging Het
Chd1 T C 17: 17,594,916 (GRCm39) F17S probably damaging Het
Cpne3 T C 4: 19,540,827 (GRCm39) I183V probably benign Het
Cyp2d11 C A 15: 82,276,306 (GRCm39) V122L probably benign Het
Dcaf8 C A 1: 172,015,056 (GRCm39) probably benign Het
Dchs1 T A 7: 105,404,937 (GRCm39) D2535V probably benign Het
Eif4a2 G T 16: 22,927,650 (GRCm39) probably benign Het
Fzd4 T A 7: 89,057,109 (GRCm39) D385E probably benign Het
Gnptab C T 10: 88,268,413 (GRCm39) Q507* probably null Het
Hoxa7 A G 6: 52,194,014 (GRCm39) probably benign Het
Htra1 T A 7: 130,563,813 (GRCm39) V228D probably damaging Het
Idi2l A T 13: 8,990,702 (GRCm39) probably null Het
Ifi203 T A 1: 173,756,716 (GRCm39) probably benign Het
Iqca1l T C 5: 24,754,750 (GRCm39) D340G probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Itga2b G T 11: 102,348,548 (GRCm39) probably benign Het
Itgb1 G T 8: 129,442,631 (GRCm39) R272L probably damaging Het
Kif9 A G 9: 110,330,703 (GRCm39) E343G probably damaging Het
Klhl5 T C 5: 65,316,244 (GRCm39) V97A probably damaging Het
Lama5 C A 2: 179,818,861 (GRCm39) probably benign Het
Lamb2 A G 9: 108,361,226 (GRCm39) probably null Het
Lrp1b T A 2: 41,660,931 (GRCm39) Y59F probably benign Het
Mmrn1 A G 6: 60,953,423 (GRCm39) E568G probably benign Het
Mreg A G 1: 72,201,495 (GRCm39) Y166H probably damaging Het
Myh7 C A 14: 55,216,045 (GRCm39) V1323F probably benign Het
Nr1i3 T A 1: 171,043,951 (GRCm39) I91K probably damaging Het
Nsfl1c T A 2: 151,348,230 (GRCm39) D206E probably damaging Het
Or11g24 T C 14: 50,662,758 (GRCm39) Y261H possibly damaging Het
Or13c3 A T 4: 52,856,411 (GRCm39) M34K probably damaging Het
Or2ak5 G A 11: 58,611,107 (GRCm39) L256F probably benign Het
Or4k44 A T 2: 111,367,698 (GRCm39) L312* probably null Het
Or5k17 A C 16: 58,746,463 (GRCm39) L157W probably damaging Het
Or8b54 T A 9: 38,686,843 (GRCm39) C97* probably null Het
Pcdhb7 C T 18: 37,475,284 (GRCm39) T140I probably benign Het
Pcdhgb5 T G 18: 37,865,641 (GRCm39) S479A probably benign Het
Pcsk5 T A 19: 17,425,054 (GRCm39) Y1583F probably damaging Het
Pias1 T C 9: 62,820,080 (GRCm39) R296G probably benign Het
Plscr1l1 A G 9: 92,236,665 (GRCm39) E108G probably damaging Het
Polr1e T A 4: 45,022,280 (GRCm39) C100S probably damaging Het
Rpap1 C A 2: 119,614,346 (GRCm39) R17L probably damaging Het
Rtn1 C T 12: 72,264,232 (GRCm39) V192I possibly damaging Het
Ryr2 G A 13: 11,767,104 (GRCm39) P1262L probably damaging Het
Slc4a7 G T 14: 14,757,342 (GRCm38) D396Y probably damaging Het
Slc5a8 T C 10: 88,727,886 (GRCm39) Y118H probably damaging Het
Slc7a6os T A 8: 106,937,247 (GRCm39) Q71L probably benign Het
Sphkap A G 1: 83,266,538 (GRCm39) V127A probably damaging Het
Srpk1 A G 17: 28,810,199 (GRCm39) S580P probably damaging Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tchh A G 3: 93,351,130 (GRCm39) D190G possibly damaging Het
Tenm4 T A 7: 96,555,025 (GRCm39) probably null Het
Tex14 T A 11: 87,377,121 (GRCm39) I155N possibly damaging Het
Tm7sf3 A T 6: 146,511,358 (GRCm39) V377E possibly damaging Het
Tnfsf9 T A 17: 57,412,433 (GRCm39) M1K probably null Het
Tns2 C T 15: 102,020,474 (GRCm39) T780I probably damaging Het
Trdn T A 10: 33,347,575 (GRCm39) D639E probably benign Het
Trmt10a A G 3: 137,857,972 (GRCm39) E173G possibly damaging Het
Ttn G A 2: 76,649,119 (GRCm39) P10984S possibly damaging Het
Tubb6 C T 18: 67,534,386 (GRCm39) T95M possibly damaging Het
Uroc1 G T 6: 90,334,519 (GRCm39) R577L probably damaging Het
Vmn2r86 T A 10: 130,289,484 (GRCm39) D137V probably benign Het
Xkr7 T C 2: 152,896,873 (GRCm39) Y576H probably damaging Het
Zfp410 A G 12: 84,384,449 (GRCm39) N355D probably damaging Het
Zfp59 C A 7: 27,543,742 (GRCm39) D22E probably damaging Het
Zfp64 C T 2: 168,736,297 (GRCm39) R460H probably damaging Het
Zfp655 T C 5: 145,181,168 (GRCm39) V342A probably damaging Het
Zfp990 G A 4: 145,264,490 (GRCm39) G496E 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
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'- AGTGGCAACTGTATGTGCAAATG -3'
(R):5'- CATTAAAGACCTTCACAGTCCTTG -3'

Sequencing Primer
(F):5'- ACTGTATGTGCAAATGAGTTTTATGG -3'
(R):5'- GAGCTCCTTAGAAATTGCTC -3'
Posted On 2016-03-17