Incidental Mutation 'R1638:Galnt13'
ID 173284
Institutional Source Beutler Lab
Gene Symbol Galnt13
Ensembl Gene ENSMUSG00000060988
Gene Name polypeptide N-acetylgalactosaminyltransferase 13
Synonyms pp-GalNAc-T13
MMRRC Submission 039674-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R1638 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 54326329-55008321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54744667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 122 (V122E)
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: V122E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: V122E

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: V122E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: V122E

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: V122E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: V122E

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: V122E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: V122E

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 0.8018 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 87.8%
Validation Efficiency 99% (79/80)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Adamts13 A G 2: 26,886,595 (GRCm39) E938G possibly damaging Het
Agfg1 A T 1: 82,871,259 (GRCm39) Q497L probably damaging Het
Ahnak A G 19: 8,986,813 (GRCm39) H2699R probably benign Het
Antxrl G T 14: 33,792,453 (GRCm39) probably null Het
Apol7c A T 15: 77,410,418 (GRCm39) V176E probably damaging Het
Arid5b T C 10: 68,113,777 (GRCm39) N87D possibly damaging Het
Atp2c1 A T 9: 105,309,897 (GRCm39) I560N probably damaging Het
Atp2c2 T C 8: 120,482,742 (GRCm39) F868S possibly damaging Het
Blnk G C 19: 40,926,122 (GRCm39) F326L probably benign Het
Bltp1 C T 3: 37,089,961 (GRCm39) R4130* probably null Het
Ckap2 C T 8: 22,665,812 (GRCm39) V412I possibly damaging Het
Clmn A G 12: 104,748,281 (GRCm39) V422A probably benign Het
Ctnnal1 A G 4: 56,813,856 (GRCm39) S638P probably benign Het
Cyp2j5 T C 4: 96,524,052 (GRCm39) S327G probably benign Het
Dhx38 G A 8: 110,280,177 (GRCm39) T871M probably damaging Het
Dmxl1 A T 18: 50,023,834 (GRCm39) K1706* probably null Het
Dnah11 A G 12: 117,979,154 (GRCm39) L2648P possibly damaging Het
Elf2 G A 3: 51,215,530 (GRCm39) T60I probably damaging Het
Fam120b T A 17: 15,622,759 (GRCm39) C246S possibly damaging Het
Fcho2 G T 13: 98,882,403 (GRCm39) T451K possibly damaging Het
Fzd9 T A 5: 135,278,602 (GRCm39) I428F probably damaging Het
Gm21738 T A 14: 19,418,908 (GRCm38) Y8F probably benign Het
Gnptab A G 10: 88,272,029 (GRCm39) I940V possibly damaging Het
Gp2 A G 7: 119,050,721 (GRCm39) probably null Het
Gpr6 A G 10: 40,946,530 (GRCm39) S351P probably benign Het
Gprin1 T C 13: 54,887,689 (GRCm39) E195G possibly damaging Het
Grm8 A T 6: 28,125,882 (GRCm39) Y81* probably null Het
Gtf3c3 A T 1: 54,444,278 (GRCm39) N703K probably damaging Het
Hhipl2 G A 1: 183,208,921 (GRCm39) V495I probably benign Het
Islr G A 9: 58,065,502 (GRCm39) probably benign Het
Lrrc36 T C 8: 106,176,273 (GRCm39) Y216H possibly damaging Het
Macroh2a1 T A 13: 56,252,722 (GRCm39) N87Y probably damaging Het
Me2 A G 18: 73,906,205 (GRCm39) I528T probably benign Het
Mecr A T 4: 131,585,127 (GRCm39) I156F possibly damaging Het
Megf6 A G 4: 154,346,967 (GRCm39) probably benign Het
Mn1 T A 5: 111,569,435 (GRCm39) L1135H probably damaging Het
Naip5 A G 13: 100,349,177 (GRCm39) S1384P probably damaging Het
Nav2 A G 7: 49,102,213 (GRCm39) N337S probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Neb A T 2: 52,139,293 (GRCm39) H3107Q probably benign Het
Nebl A G 2: 17,381,462 (GRCm39) V738A possibly damaging Het
Nsd2 G A 5: 34,039,464 (GRCm39) R825Q possibly damaging Het
Nsun2 A G 13: 69,775,705 (GRCm39) N383S probably damaging Het
Ntrk3 A T 7: 77,897,036 (GRCm39) M667K probably damaging Het
Or10a48 A C 7: 108,424,442 (GRCm39) C255G probably benign Het
Or11h6 G A 14: 50,880,565 (GRCm39) V276M possibly damaging Het
Or1e29 A G 11: 73,667,974 (GRCm39) Y60H possibly damaging Het
Or6c2 A T 10: 129,362,488 (GRCm39) M131L probably benign Het
Pex6 T C 17: 47,033,558 (GRCm39) V633A probably benign Het
Phactr1 C T 13: 43,110,147 (GRCm39) T95M probably damaging Het
Pik3r4 A G 9: 105,564,408 (GRCm39) D1334G probably damaging Het
Pkhd1l1 A C 15: 44,460,513 (GRCm39) I4241L probably benign Het
Ppwd1 T C 13: 104,356,771 (GRCm39) E248G probably damaging Het
Prepl A C 17: 85,379,509 (GRCm39) M393R probably benign Het
Ptpn6 T C 6: 124,698,148 (GRCm39) S532G probably benign Het
Rnase11 G T 14: 51,287,058 (GRCm39) H165Q possibly damaging Het
Sf1 A G 19: 6,422,090 (GRCm39) N172S possibly damaging Het
Shprh T A 10: 11,032,822 (GRCm39) D269E probably benign Het
Slc16a1 T C 3: 104,556,798 (GRCm39) I61T possibly damaging Het
Slc38a2 A C 15: 96,590,417 (GRCm39) I309S probably damaging Het
Sry C G Y: 2,663,149 (GRCm39) Q170H unknown Het
Stk3 A C 15: 35,008,454 (GRCm39) probably null Het
Tg C A 15: 66,568,015 (GRCm39) C1306* probably null Het
Tnik A G 3: 28,719,889 (GRCm39) M1254V probably damaging Het
U2surp T C 9: 95,366,280 (GRCm39) E474G possibly damaging Het
Vmn1r224 T A 17: 20,639,587 (GRCm39) F55I probably benign Het
Vmn1r32 A G 6: 66,529,939 (GRCm39) I279T possibly damaging Het
Zc2hc1a A G 3: 7,581,543 (GRCm39) D15G probably benign Het
Zfp827 C A 8: 79,802,975 (GRCm39) P516T possibly damaging Het
Zfyve9 A T 4: 108,542,104 (GRCm39) probably null 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
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'- CTCCTTGGTAAAGGACCTTGAAGTCTG -3'
(R):5'- TTTTGAAGCTGCTGCTCCTCGG -3'

Sequencing Primer
(F):5'- CCTACTGAGGAAGATCAGGATG -3'
(R):5'- CTGGCACTTCTAAAGTTTTCACGTAG -3'
Posted On 2014-04-24