Incidental Mutation 'R5649:Poglut1'
ID 441339
Institutional Source Beutler Lab
Gene Symbol Poglut1
Ensembl Gene ENSMUSG00000034064
Gene Name protein O-glucosyltransferase 1
Synonyms Ktelc1, wsnp, 9630046K23Rik, Rumi
MMRRC Submission 043170-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5649 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 38345499-38370620 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38352173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 257 (V257A)
Ref Sequence ENSEMBL: ENSMUSP00000038166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036210]
AlphaFold Q8BYB9
Predicted Effect probably damaging
Transcript: ENSMUST00000036210
AA Change: V257A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038166
Gene: ENSMUSG00000034064
AA Change: V257A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CAP10 121 373 6.69e-102 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153187
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,330,501 (GRCm39) T1385A probably damaging Het
Apc2 T A 10: 80,149,972 (GRCm39) D1646E probably damaging Het
Aspm G A 1: 139,407,407 (GRCm39) R2098H probably benign Het
Atl3 C A 19: 7,509,592 (GRCm39) T435N possibly damaging Het
Cdh22 G T 2: 164,958,200 (GRCm39) T589K probably damaging Het
Cnot3 T C 7: 3,661,082 (GRCm39) L561S probably benign Het
Col5a1 A G 2: 27,841,468 (GRCm39) D363G unknown Het
Cyp24a1 T C 2: 170,338,229 (GRCm39) D105G possibly damaging Het
Dennd4a C A 9: 64,758,491 (GRCm39) probably null Het
Dnah8 A G 17: 31,019,561 (GRCm39) K3878R probably benign Het
Dock4 T C 12: 40,894,539 (GRCm39) S1900P probably benign Het
Fancg A G 4: 43,008,736 (GRCm39) L167P probably damaging Het
Ighd2-8 A G 12: 113,414,487 (GRCm39) S1P possibly damaging Het
Kif28 A G 1: 179,525,336 (GRCm39) probably null Het
Mrpl55 T A 11: 59,095,397 (GRCm39) C20* probably null Het
Myo5a A G 9: 75,079,001 (GRCm39) K920E possibly damaging Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Olfm3 A G 3: 114,890,573 (GRCm39) R76G probably damaging Het
Or14a258 T C 7: 86,035,521 (GRCm39) M116V probably damaging Het
Or2ag1 T C 7: 106,313,373 (GRCm39) R172G possibly damaging Het
Pcdha12 A T 18: 37,155,468 (GRCm39) D729V probably benign Het
Phf11c T C 14: 59,622,981 (GRCm39) probably null Het
Phf20 T A 2: 156,093,688 (GRCm39) probably null Het
Plbd1 T A 6: 136,593,987 (GRCm39) Y376F probably benign Het
Reln A G 5: 22,106,623 (GRCm39) I3249T probably benign Het
Rgsl1 G A 1: 153,701,639 (GRCm39) P272S possibly damaging Het
Slc15a2 A T 16: 36,592,472 (GRCm39) Y197* probably null Het
Slc45a2 C T 15: 11,012,693 (GRCm39) T232I probably benign Het
Ssc5d T A 7: 4,929,517 (GRCm39) probably null Het
Thbs2 T C 17: 14,910,215 (GRCm39) Y128C probably damaging Het
Them4 A T 3: 94,238,851 (GRCm39) L219F possibly damaging Het
Tmem30b G T 12: 73,592,940 (GRCm39) N58K probably benign Het
Trappc2b T C 11: 51,576,799 (GRCm39) E33G probably benign Het
Ttc29 G A 8: 78,972,942 (GRCm39) E131K possibly damaging Het
Vmn1r29 C G 6: 58,284,676 (GRCm39) S132C probably benign Het
Vmn1r53 G A 6: 90,200,742 (GRCm39) A194V probably benign Het
Wdr86 A T 5: 24,923,085 (GRCm39) H202Q probably benign Het
Xirp2 A G 2: 67,347,239 (GRCm39) D3160G probably benign Het
Xkr5 T C 8: 18,983,982 (GRCm39) D520G probably benign Het
Zfp607b T G 7: 27,403,406 (GRCm39) C621G 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
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
R9227:Poglut1 UTSW 16 38,355,168 (GRCm39) missense possibly damaging 0.89
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'- CATGTCTACTACCATGTTGTAGCC -3'
(R):5'- TGGCCTCTTAGTTCAAAGGAAGG -3'

Sequencing Primer
(F):5'- TACCATGTTGTAGCCGCAAC -3'
(R):5'- GACACTGAATAAGTCCCCGTTTG -3'
Posted On 2016-11-08