Incidental Mutation 'R9227:Poglut1'
ID 699959
Institutional Source Beutler Lab
Gene Symbol Poglut1
Ensembl Gene ENSMUSG00000034064
Gene Name protein O-glucosyltransferase 1
Synonyms Ktelc1, wsnp, 9630046K23Rik, Rumi
MMRRC Submission 068984-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9227 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 38345499-38370620 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38355168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 219 (D219E)
Ref Sequence ENSEMBL: ENSMUSP00000038166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036210]
AlphaFold Q8BYB9
Predicted Effect possibly damaging
Transcript: ENSMUST00000036210
AA Change: D219E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038166
Gene: ENSMUSG00000034064
AA Change: D219E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CAP10 121 373 6.69e-102 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: This gene encodes a protein that can catalyze transfer of either UDP-glucose or UDP-xylose to epidermal growth factor (EGF) repeats, such as those found in Notch. Loss of this gene product results in embryonic lethality. Embryos have neural plate defects, heart defects, and truncations of their posterior axis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality during organogenesis, embryonic growth retardation, caudal body truncation, and severe defects in neural tube development, somitogenesis, cardiogenesis, and vascular remodeling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A T 10: 77,157,626 (GRCm39) F274I probably damaging Het
Adprhl1 C T 8: 13,271,974 (GRCm39) V1595I probably benign Het
Anxa6 A G 11: 54,898,694 (GRCm39) V160A probably benign Het
Appl1 T C 14: 26,645,692 (GRCm39) E706G unknown Het
Arhgap21 T C 2: 20,860,469 (GRCm39) T1313A possibly damaging Het
Armc2 T C 10: 41,823,935 (GRCm39) Y511C probably damaging Het
Atp1a1 A T 3: 101,499,750 (GRCm39) C111S probably damaging Het
Atp6v0d2 T A 4: 19,878,374 (GRCm39) M300L probably benign Het
C1ra T C 6: 124,493,739 (GRCm39) C164R probably damaging Het
Cacna1h T C 17: 25,599,856 (GRCm39) Y1659C probably damaging Het
Catsperb T C 12: 101,516,053 (GRCm39) I563T probably benign Het
Cblif G A 19: 11,737,748 (GRCm39) W386* probably null Het
Cd180 TA TAA 13: 102,841,514 (GRCm39) probably null Het
Cd55b A T 1: 130,350,619 (GRCm39) L26* probably null Het
Cdc42bpa A G 1: 179,933,638 (GRCm39) N759S probably benign Het
Cenpj C T 14: 56,802,176 (GRCm39) E130K possibly damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Chd7 C T 4: 8,805,272 (GRCm39) S777L probably benign Het
Chrm3 C A 13: 9,928,479 (GRCm39) V186L probably benign Het
Clrn2 A G 5: 45,621,283 (GRCm39) T226A probably damaging Het
Col3a1 C T 1: 45,383,138 (GRCm39) P1071S unknown Het
Dytn A T 1: 63,686,611 (GRCm39) V353D probably benign Het
Egfem1 G A 3: 29,411,317 (GRCm39) E155K probably benign Het
Eif3m A T 2: 104,831,705 (GRCm39) M285K probably damaging Het
Fam135b T C 15: 71,335,856 (GRCm39) K446R probably benign Het
Fam186a T C 15: 99,853,384 (GRCm39) T119A unknown Het
Frmd4a T C 2: 4,612,844 (GRCm39) S1025P possibly damaging Het
Fubp3 A G 2: 31,502,564 (GRCm39) H449R probably benign Het
Fyco1 A T 9: 123,648,211 (GRCm39) I1241N probably damaging Het
Gabpb2 A T 3: 95,111,998 (GRCm39) M77K probably damaging Het
Gfpt1 T A 6: 87,027,906 (GRCm39) I4K probably damaging Het
Glis1 T C 4: 107,425,327 (GRCm39) S313P probably benign Het
Golga4 T A 9: 118,385,941 (GRCm39) M1021K possibly damaging Het
Grid2ip G A 5: 143,359,194 (GRCm39) R270Q probably damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Ifit1 A G 19: 34,625,236 (GRCm39) E124G possibly damaging Het
Ifna14 T C 4: 88,489,752 (GRCm39) D95G probably benign Het
Ilkap A C 1: 91,314,937 (GRCm39) I142S probably benign Het
Inpp5e C T 2: 26,288,616 (GRCm39) R588H probably damaging Het
Kif1b A C 4: 149,322,357 (GRCm39) M854R probably damaging Het
Lcn6 A T 2: 25,570,107 (GRCm39) K91M probably damaging Het
Lpin1 A T 12: 16,588,483 (GRCm39) S902R unknown Het
Lrig1 C A 6: 94,607,113 (GRCm39) C160F probably damaging Het
Mapk13 T C 17: 28,994,532 (GRCm39) I141T probably damaging Het
Mapkapk3 A G 9: 107,137,354 (GRCm39) L175P probably damaging Het
Micall2 A G 5: 139,701,827 (GRCm39) V472A unknown Het
Mmp15 T C 8: 96,092,959 (GRCm39) F113L probably benign Het
Msh2 T G 17: 88,026,717 (GRCm39) S738A probably benign Het
Myb C T 10: 21,030,612 (GRCm39) D62N probably benign Het
Myo1f T C 17: 33,795,424 (GRCm39) V53A probably damaging Het
Ncf1 A T 5: 134,250,718 (GRCm39) N367K probably benign Het
Nim1k C A 13: 120,174,118 (GRCm39) V259F probably damaging Het
Nme8 T G 13: 19,874,384 (GRCm39) I139L probably benign Het
Odam T C 5: 88,034,457 (GRCm39) F46L probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or7a42 G A 10: 78,791,929 (GRCm39) D297N possibly damaging Het
Pcare A G 17: 72,057,217 (GRCm39) L820P probably damaging Het
Pcdha9 A G 18: 37,131,954 (GRCm39) E341G probably damaging Het
Pmepa1 T C 2: 173,117,962 (GRCm39) T6A probably benign Het
Racgap1 A G 15: 99,534,078 (GRCm39) S145P possibly damaging Het
Rasgef1a C T 6: 118,066,110 (GRCm39) T441I possibly damaging Het
Rbm6 T C 9: 107,664,498 (GRCm39) T844A probably benign Het
Rbmyf9 T G Y: 3,774,819 (GRCm39) D5E probably damaging Het
Rell1 T C 5: 64,097,105 (GRCm39) probably benign Het
Ripk3 A G 14: 56,023,303 (GRCm39) F134S probably benign Het
Rnf169 T C 7: 99,574,699 (GRCm39) D632G possibly damaging Het
Sclt1 A T 3: 41,665,631 (GRCm39) W146R probably benign Het
Setd5 T C 6: 113,098,755 (GRCm39) F796S possibly damaging Het
Slc24a5 G T 2: 124,922,568 (GRCm39) G110V probably damaging Het
Slc30a10 T A 1: 185,187,391 (GRCm39) M44K probably damaging Het
Slc38a10 T A 11: 119,996,781 (GRCm39) D772V probably benign Het
Thy1 C T 9: 43,958,004 (GRCm39) T44I probably damaging Het
Tinagl1 G T 4: 130,061,271 (GRCm39) S324Y probably benign Het
Tll2 T A 19: 41,093,436 (GRCm39) Y477F probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmco6 T C 18: 36,874,719 (GRCm39) L402P probably damaging Het
Tnrc18 G T 5: 142,773,392 (GRCm39) A479D Het
Uba7 T C 9: 107,853,001 (GRCm39) V12A possibly damaging Het
Usp5 T C 6: 124,795,599 (GRCm39) D598G probably damaging Het
Vmn1r158 C T 7: 22,489,469 (GRCm39) V247I probably benign Het
Vpreb1b A G 16: 17,798,801 (GRCm39) N96D probably damaging Het
Zcchc17 A T 4: 130,230,928 (GRCm39) M87K probably damaging Het
Other mutations in Poglut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Poglut1 APN 16 38,363,278 (GRCm39) missense possibly damaging 0.96
R0646:Poglut1 UTSW 16 38,349,837 (GRCm39) missense probably damaging 0.99
R0799:Poglut1 UTSW 16 38,355,083 (GRCm39) splice site probably null
R2025:Poglut1 UTSW 16 38,358,267 (GRCm39) critical splice donor site probably null
R2054:Poglut1 UTSW 16 38,355,169 (GRCm39) missense probably damaging 1.00
R4514:Poglut1 UTSW 16 38,369,778 (GRCm39) missense probably benign 0.00
R4770:Poglut1 UTSW 16 38,355,119 (GRCm39) missense probably damaging 1.00
R5649:Poglut1 UTSW 16 38,352,173 (GRCm39) missense probably damaging 0.99
R5893:Poglut1 UTSW 16 38,349,957 (GRCm39) missense probably damaging 0.99
R6796:Poglut1 UTSW 16 38,349,972 (GRCm39) missense probably damaging 1.00
R7404:Poglut1 UTSW 16 38,358,284 (GRCm39) missense possibly damaging 0.88
R8028:Poglut1 UTSW 16 38,355,095 (GRCm39) missense probably damaging 0.99
R9368:Poglut1 UTSW 16 38,349,850 (GRCm39) missense probably damaging 0.99
R9378:Poglut1 UTSW 16 38,347,133 (GRCm39) missense possibly damaging 0.90
R9408:Poglut1 UTSW 16 38,347,137 (GRCm39) missense probably benign
R9575:Poglut1 UTSW 16 38,363,285 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- TCTCACCACTGAGAGGAAGC -3'
(R):5'- GACACTCCCTGTCTTTATGGG -3'

Sequencing Primer
(F):5'- CACTGAGAGGAAGCCTAATCTC -3'
(R):5'- GACACTCCCTGTCTTTATGGGTAAAG -3'
Posted On 2022-02-07