Incidental Mutation 'R6348:Poglut3'
ID 514445
Institutional Source Beutler Lab
Gene Symbol Poglut3
Ensembl Gene ENSMUSG00000034487
Gene Name protein O-glucosyltransferase 3
Synonyms 4833410J10Rik, Kdelc2, 2010004J24Rik
MMRRC Submission 044502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R6348 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 53295325-53313167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53301740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 131 (V131M)
Ref Sequence ENSEMBL: ENSMUSP00000039313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037853] [ENSMUST00000214164]
AlphaFold G5E897
Predicted Effect probably damaging
Transcript: ENSMUST00000037853
AA Change: V131M

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039313
Gene: ENSMUSG00000034487
AA Change: V131M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG_FLMN 23 132 2.17e-2 SMART
Blast:CAP10 135 224 5e-48 BLAST
CAP10 226 471 7.45e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000214164
Meta Mutation Damage Score 0.4607 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox5 A T 6: 116,391,556 (GRCm39) H400Q probably damaging Het
Arhgef16 G T 4: 154,371,540 (GRCm39) Q218K probably benign Het
Asxl3 A T 18: 22,650,330 (GRCm39) H773L possibly damaging Het
Atic C T 1: 71,615,857 (GRCm39) R468W probably damaging Het
Bfsp2 A T 9: 103,357,271 (GRCm39) V52D probably benign Het
Bicd2 A G 13: 49,533,322 (GRCm39) H636R probably damaging Het
Chac2 A G 11: 30,927,406 (GRCm39) V171A probably damaging Het
Chd9 A G 8: 91,737,903 (GRCm39) I1512V possibly damaging Het
Cnbd1 T C 4: 18,860,462 (GRCm39) D428G probably damaging Het
Crlf1 T C 8: 70,945,990 (GRCm39) S22P probably benign Het
Crybg1 A G 10: 43,879,947 (GRCm39) F414L probably damaging Het
Dnah14 A T 1: 181,454,285 (GRCm39) D765V possibly damaging Het
Fat3 A G 9: 15,849,287 (GRCm39) probably null Het
Gabbr1 A T 17: 37,367,791 (GRCm39) M414L possibly damaging Het
Grip2 A T 6: 91,757,419 (GRCm39) D412E probably damaging Het
Herc1 G A 9: 66,395,258 (GRCm39) A4198T possibly damaging Het
Hsd3b3 C T 3: 98,663,265 (GRCm39) probably null Het
Ifi213 G A 1: 173,417,848 (GRCm39) T188I possibly damaging Het
Il36rn G A 2: 24,169,726 (GRCm39) A29T probably damaging Het
Klk1b11 T C 7: 43,647,275 (GRCm39) probably null Het
Mepce A T 5: 137,783,698 (GRCm39) D209E possibly damaging Het
Mtr A C 13: 12,262,840 (GRCm39) V111G possibly damaging Het
Mtrex T A 13: 113,047,451 (GRCm39) H298L possibly damaging Het
Or2h1b A G 17: 37,462,497 (GRCm39) V122A probably damaging Het
Or8k24 T A 2: 86,216,513 (GRCm39) Q83L probably benign Het
Or9k2b A T 10: 130,016,166 (GRCm39) N194K probably benign Het
P2rx1 G A 11: 72,890,148 (GRCm39) R3Q probably benign Het
Phc2 G A 4: 128,598,944 (GRCm39) G34S probably benign Het
Ppm1a A G 12: 72,837,449 (GRCm39) H332R probably benign Het
Sdk2 A G 11: 113,784,334 (GRCm39) V135A probably benign Het
Slc2a4 T C 11: 69,835,848 (GRCm39) T334A probably benign Het
Slc6a15 T G 10: 103,240,228 (GRCm39) V317G probably damaging Het
Speer2 T C 16: 69,654,895 (GRCm39) D190G possibly damaging Het
Tbc1d21 G A 9: 58,268,501 (GRCm39) A286V probably benign Het
Tmem210 T C 2: 25,178,796 (GRCm39) S82P probably benign Het
Top6bl G C 19: 4,722,106 (GRCm39) P105A probably damaging Het
Zbtb26 C T 2: 37,325,687 (GRCm39) V450M probably benign Het
Other mutations in Poglut3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Poglut3 APN 9 53,309,330 (GRCm39) intron probably benign
IGL00334:Poglut3 APN 9 53,309,328 (GRCm39) intron probably benign
IGL01061:Poglut3 APN 9 53,299,887 (GRCm39) unclassified probably benign
IGL01114:Poglut3 APN 9 53,299,879 (GRCm39) critical splice donor site probably null
IGL02227:Poglut3 APN 9 53,299,779 (GRCm39) missense probably damaging 0.97
IGL02646:Poglut3 APN 9 53,295,551 (GRCm39) missense probably benign 0.06
IGL02795:Poglut3 APN 9 53,303,405 (GRCm39) missense probably damaging 1.00
IGL03029:Poglut3 APN 9 53,295,588 (GRCm39) critical splice donor site probably null
R0830:Poglut3 UTSW 9 53,302,011 (GRCm39) missense probably damaging 1.00
R1256:Poglut3 UTSW 9 53,299,762 (GRCm39) missense possibly damaging 0.62
R1806:Poglut3 UTSW 9 53,307,150 (GRCm39) missense probably damaging 1.00
R5995:Poglut3 UTSW 9 53,307,195 (GRCm39) missense probably damaging 0.98
R6170:Poglut3 UTSW 9 53,311,042 (GRCm39) missense possibly damaging 0.91
R6833:Poglut3 UTSW 9 53,303,308 (GRCm39) missense possibly damaging 0.52
R7250:Poglut3 UTSW 9 53,301,821 (GRCm39) nonsense probably null
R7403:Poglut3 UTSW 9 53,301,741 (GRCm39) missense probably damaging 1.00
R8089:Poglut3 UTSW 9 53,307,262 (GRCm39) missense probably benign 0.04
R9112:Poglut3 UTSW 9 53,295,530 (GRCm39) missense probably damaging 1.00
R9478:Poglut3 UTSW 9 53,303,236 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATGTGCTCTGTAGTCTGTCC -3'
(R):5'- TGTGTAATGAACAACAGCACC -3'

Sequencing Primer
(F):5'- TAGTCTGTCCAGGGGGCCTAG -3'
(R):5'- CCCGCTCGTCCCCAAATC -3'
Posted On 2018-04-27