Incidental Mutation 'R6959:Galnt5'
ID 541630
Institutional Source Beutler Lab
Gene Symbol Galnt5
Ensembl Gene ENSMUSG00000026828
Gene Name polypeptide N-acetylgalactosaminyltransferase 5
Synonyms ppGaNTase-T5
MMRRC Submission 045069-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6959 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 57887832-57931039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57889231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 277 (D277G)
Ref Sequence ENSEMBL: ENSMUSP00000131362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112616] [ENSMUST00000166729]
AlphaFold Q8C102
Predicted Effect probably benign
Transcript: ENSMUST00000112616
AA Change: D277G

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: D277G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 319 330 N/A INTRINSIC
Pfam:Glycos_transf_2 489 672 1.3e-33 PFAM
Pfam:Glyco_transf_7C 653 718 1.9e-8 PFAM
RICIN 801 925 1.36e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166729
AA Change: D277G

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: D277G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 319 330 N/A INTRINSIC
Pfam:Glycos_transf_2 489 672 2.1e-30 PFAM
Pfam:Glyco_transf_7C 652 718 7e-8 PFAM
RICIN 801 925 1.36e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency 94% (61/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]
PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik G A 11: 70,507,485 (GRCm39) G177R probably damaging Het
Arhgef12 T C 9: 42,927,249 (GRCm39) T292A probably benign Het
Atp11a T A 8: 12,870,467 (GRCm39) D173E probably damaging Het
Bltp1 T G 3: 37,021,338 (GRCm39) V2154G probably damaging Het
Btnl2 G A 17: 34,582,333 (GRCm39) V300M possibly damaging Het
Calcrl A T 2: 84,200,428 (GRCm39) N117K possibly damaging Het
Castor2 T C 5: 134,164,052 (GRCm39) S83P probably damaging Het
Ccdc196 A G 12: 78,249,070 (GRCm39) K139E probably damaging Het
Ccl22 A T 8: 95,473,528 (GRCm39) probably null Het
Cd200r1 T A 16: 44,610,539 (GRCm39) S216T probably damaging Het
Cdk5rap2 G A 4: 70,278,906 (GRCm39) probably null Het
Cfap157 A G 2: 32,674,260 (GRCm39) I47T probably damaging Het
Chodl G A 16: 78,743,572 (GRCm39) V220I probably damaging Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Cstf3 A G 2: 104,479,807 (GRCm39) T225A probably benign Het
Duoxa1 T C 2: 122,134,318 (GRCm39) S267G probably damaging Het
Epb41l1 G A 2: 156,341,507 (GRCm39) S164N probably benign Het
Fat3 T C 9: 15,908,181 (GRCm39) D2607G possibly damaging Het
Galnt6 A G 15: 100,612,006 (GRCm39) I212T probably damaging Het
Gm45861 T C 8: 28,038,213 (GRCm39) probably null Het
Gm5478 T C 15: 101,553,883 (GRCm39) D243G probably damaging Het
Gse1 A G 8: 121,297,710 (GRCm39) probably benign Het
Hspg2 A T 4: 137,246,600 (GRCm39) Q1096L probably benign Het
Hycc1 T C 5: 24,196,754 (GRCm39) I45V possibly damaging Het
Idh3b A G 2: 130,123,447 (GRCm39) V181A probably damaging Het
Igf2bp3 T C 6: 49,094,082 (GRCm39) probably null Het
Ikzf2 A G 1: 69,577,929 (GRCm39) *382Q probably null Het
Impg2 A C 16: 56,088,693 (GRCm39) H1073P probably benign Het
Incenp T C 19: 9,854,134 (GRCm39) E639G unknown Het
Kcne4 A G 1: 78,795,603 (GRCm39) M84V probably benign Het
Ktn1 T A 14: 47,957,713 (GRCm39) F1004I probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Malrd1 A G 2: 16,222,820 (GRCm39) I2040V probably damaging Het
Mau2 T C 8: 70,485,878 (GRCm39) D110G probably damaging Het
Mei1 T C 15: 82,009,076 (GRCm39) V1237A probably benign Het
Mfsd11 T G 11: 116,752,495 (GRCm39) probably null Het
Ncapd2 A G 6: 125,145,883 (GRCm39) F1293L probably benign Het
Nf1 A G 11: 79,440,294 (GRCm39) T280A probably damaging Het
Obscn G T 11: 58,928,411 (GRCm39) A6085E probably damaging Het
Or51b6b T A 7: 103,310,050 (GRCm39) I136F probably damaging Het
Pdzd2 C T 15: 12,375,993 (GRCm39) A1381T probably benign Het
Pramel41 T A 5: 94,594,891 (GRCm39) N250K possibly damaging Het
Ralgapa2 A G 2: 146,184,621 (GRCm39) V1462A probably damaging Het
Rbx1 T A 15: 81,355,163 (GRCm39) C56* probably null Het
Reln A G 5: 22,181,562 (GRCm39) S1774P probably damaging Het
Ros1 T A 10: 52,040,090 (GRCm39) E300D probably damaging Het
Sarnp T C 10: 128,684,137 (GRCm39) V111A possibly damaging Het
Scube1 G T 15: 83,513,636 (GRCm39) Q345K probably benign Het
Slc18b1 A G 10: 23,701,942 (GRCm39) probably null Het
Slc37a2 T A 9: 37,152,630 (GRCm39) T64S probably benign Het
Slit2 A G 5: 48,395,727 (GRCm39) D710G possibly damaging Het
Srp72 T A 5: 77,142,070 (GRCm39) Y375N possibly damaging Het
Tmco4 T A 4: 138,737,810 (GRCm39) V135D probably damaging Het
Trim62 A G 4: 128,802,955 (GRCm39) D335G probably damaging Het
Tsfm T C 10: 126,858,778 (GRCm39) M196V probably benign Het
Tspan10 T A 11: 120,335,522 (GRCm39) C211S probably damaging Het
Ttc21b A T 2: 66,061,656 (GRCm39) M498K probably benign Het
Ttc6 A T 12: 57,704,928 (GRCm39) probably null Het
Ttll1 G T 15: 83,386,397 (GRCm39) Y69* probably null Het
Usp28 T A 9: 48,912,842 (GRCm39) L31H probably damaging Het
Vmn2r86 A G 10: 130,282,400 (GRCm39) S739P probably damaging Het
Wdr64 T A 1: 175,533,555 (GRCm39) F64I probably damaging Het
Ywhaq A G 12: 21,446,281 (GRCm39) probably null Het
Zfr T C 15: 12,150,409 (GRCm39) S459P probably damaging Het
Other mutations in Galnt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Galnt5 APN 2 57,888,985 (GRCm39) missense probably benign
IGL00515:Galnt5 APN 2 57,889,080 (GRCm39) missense probably benign 0.02
IGL00950:Galnt5 APN 2 57,889,144 (GRCm39) missense probably benign 0.00
IGL00973:Galnt5 APN 2 57,888,951 (GRCm39) missense probably benign 0.02
IGL01152:Galnt5 APN 2 57,915,405 (GRCm39) missense probably benign 0.17
IGL01305:Galnt5 APN 2 57,915,354 (GRCm39) nonsense probably null
IGL01661:Galnt5 APN 2 57,889,494 (GRCm39) missense probably benign 0.03
IGL01719:Galnt5 APN 2 57,888,555 (GRCm39) missense probably damaging 1.00
IGL02165:Galnt5 APN 2 57,888,877 (GRCm39) missense probably benign
IGL02795:Galnt5 APN 2 57,917,883 (GRCm39) missense probably damaging 1.00
IGL02943:Galnt5 APN 2 57,889,780 (GRCm39) missense probably damaging 1.00
IGL03218:Galnt5 APN 2 57,889,401 (GRCm39) missense possibly damaging 0.59
ANU22:Galnt5 UTSW 2 57,915,354 (GRCm39) nonsense probably null
R0082:Galnt5 UTSW 2 57,889,047 (GRCm39) missense possibly damaging 0.92
R0113:Galnt5 UTSW 2 57,888,889 (GRCm39) missense probably benign
R0445:Galnt5 UTSW 2 57,888,962 (GRCm39) missense probably benign
R0517:Galnt5 UTSW 2 57,925,385 (GRCm39) splice site probably benign
R0609:Galnt5 UTSW 2 57,914,637 (GRCm39) missense possibly damaging 0.90
R0639:Galnt5 UTSW 2 57,889,407 (GRCm39) missense probably benign 0.07
R0646:Galnt5 UTSW 2 57,889,097 (GRCm39) missense probably benign 0.00
R0677:Galnt5 UTSW 2 57,888,992 (GRCm39) nonsense probably null
R1808:Galnt5 UTSW 2 57,916,137 (GRCm39) missense probably benign 0.24
R1927:Galnt5 UTSW 2 57,888,615 (GRCm39) missense probably benign 0.00
R1980:Galnt5 UTSW 2 57,914,735 (GRCm39) critical splice donor site probably null
R2517:Galnt5 UTSW 2 57,889,425 (GRCm39) missense probably benign 0.00
R4044:Galnt5 UTSW 2 57,888,472 (GRCm39) missense probably damaging 1.00
R4154:Galnt5 UTSW 2 57,888,505 (GRCm39) missense probably damaging 1.00
R4411:Galnt5 UTSW 2 57,889,207 (GRCm39) missense probably benign 0.01
R4703:Galnt5 UTSW 2 57,888,919 (GRCm39) missense possibly damaging 0.96
R4767:Galnt5 UTSW 2 57,918,156 (GRCm39) missense possibly damaging 0.91
R5118:Galnt5 UTSW 2 57,905,015 (GRCm39) missense probably damaging 1.00
R5497:Galnt5 UTSW 2 57,915,340 (GRCm39) missense probably damaging 0.99
R5506:Galnt5 UTSW 2 57,889,637 (GRCm39) missense probably benign
R5548:Galnt5 UTSW 2 57,904,922 (GRCm39) missense probably damaging 0.99
R5758:Galnt5 UTSW 2 57,888,442 (GRCm39) missense probably benign 0.19
R5937:Galnt5 UTSW 2 57,928,949 (GRCm39) missense probably benign 0.00
R6237:Galnt5 UTSW 2 57,925,261 (GRCm39) missense probably damaging 0.96
R6805:Galnt5 UTSW 2 57,925,311 (GRCm39) missense possibly damaging 0.82
R7070:Galnt5 UTSW 2 57,888,621 (GRCm39) missense probably benign 0.00
R7179:Galnt5 UTSW 2 57,888,621 (GRCm39) missense probably benign 0.06
R7347:Galnt5 UTSW 2 57,907,205 (GRCm39) missense probably benign 0.33
R7419:Galnt5 UTSW 2 57,904,937 (GRCm39) missense probably damaging 1.00
R7426:Galnt5 UTSW 2 57,907,151 (GRCm39) missense probably damaging 0.99
R7492:Galnt5 UTSW 2 57,916,048 (GRCm39) splice site probably null
R7539:Galnt5 UTSW 2 57,925,242 (GRCm39) missense probably damaging 0.99
R7623:Galnt5 UTSW 2 57,907,222 (GRCm39) missense probably damaging 0.99
R8135:Galnt5 UTSW 2 57,904,880 (GRCm39) missense probably damaging 1.00
R8155:Galnt5 UTSW 2 57,889,427 (GRCm39) missense probably benign 0.01
R8544:Galnt5 UTSW 2 57,907,160 (GRCm39) missense probably damaging 1.00
R9267:Galnt5 UTSW 2 57,925,220 (GRCm39) missense possibly damaging 0.58
R9747:Galnt5 UTSW 2 57,889,477 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- ACCCTGAATATGACCATCAGTG -3'
(R):5'- TGGACTTCCACCCAGTAATTTAGG -3'

Sequencing Primer
(F):5'- TGACCATCAGTGTCAAGACTG -3'
(R):5'- CCCAGTAATTTAGGAAACACAGTTTG -3'
Posted On 2018-11-28