Incidental Mutation 'R6796:Poglut1'
ID 533030
Institutional Source Beutler Lab
Gene Symbol Poglut1
Ensembl Gene ENSMUSG00000034064
Gene Name protein O-glucosyltransferase 1
Synonyms Ktelc1, wsnp, 9630046K23Rik, Rumi
MMRRC Submission 044909-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6796 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 38345499-38370620 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38349972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 267 (Y267C)
Ref Sequence ENSEMBL: ENSMUSP00000038166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036210]
AlphaFold Q8BYB9
Predicted Effect probably damaging
Transcript: ENSMUST00000036210
AA Change: Y267C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038166
Gene: ENSMUSG00000034064
AA Change: Y267C

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CAP10 121 373 6.69e-102 SMART
Meta Mutation Damage Score 0.9742 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 98% (41/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,620,597 (GRCm39) V3950A probably damaging Het
App A G 16: 84,917,455 (GRCm39) I63T probably damaging Het
Bpifb4 A T 2: 153,803,467 (GRCm39) K381N probably damaging Het
Cdc45 C T 16: 18,603,607 (GRCm39) A529T probably damaging Het
Cdh18 T A 15: 23,446,159 (GRCm39) N536K probably damaging Het
Dpy19l1 C A 9: 24,414,158 (GRCm39) R90L possibly damaging Het
E2f3 A G 13: 30,102,568 (GRCm39) V231A possibly damaging Het
F930015N05Rik A T 11: 64,326,229 (GRCm39) probably benign Het
Fcer2a T C 8: 3,739,830 (GRCm39) H47R possibly damaging Het
Hcar2 A G 5: 124,003,330 (GRCm39) S58P probably benign Het
Hivep3 A G 4: 119,953,558 (GRCm39) T625A possibly damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Itgax C T 7: 127,734,236 (GRCm39) A336V probably damaging Het
Lin37 A T 7: 30,256,341 (GRCm39) V140E probably damaging Het
Malrd1 T A 2: 15,874,595 (GRCm39) I1341K unknown Het
Map4k5 T C 12: 69,864,799 (GRCm39) I561V probably benign Het
Mcc A G 18: 44,857,627 (GRCm39) S163P probably benign Het
Nlrp12 T C 7: 3,290,039 (GRCm39) T158A probably damaging Het
Or5an6 A T 19: 12,372,292 (GRCm39) I222F probably damaging Het
Or5b119 A G 19: 13,457,278 (GRCm39) C95R probably damaging Het
Paqr5 C T 9: 61,871,065 (GRCm39) R171Q probably damaging Het
Pax8 A T 2: 24,331,098 (GRCm39) M200K probably benign Het
Plcd4 T C 1: 74,601,229 (GRCm39) S498P probably benign Het
Pom121l2 T C 13: 22,167,694 (GRCm39) I655T probably benign Het
Proca1 G T 11: 78,085,754 (GRCm39) R19L probably benign Het
Prr30 A G 14: 101,436,380 (GRCm39) S61P probably benign Het
Ranbp17 T C 11: 33,167,398 (GRCm39) S1022G probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpgrip1 A G 14: 52,387,469 (GRCm39) H1037R probably damaging Het
Rpl34 G T 3: 130,522,926 (GRCm39) T6K probably damaging Het
Scaper T C 9: 55,771,711 (GRCm39) T402A probably benign Het
Selenow A T 7: 15,653,996 (GRCm39) V52E probably damaging Het
Septin14 T A 5: 129,774,822 (GRCm39) I118L probably benign Het
Sis A T 3: 72,872,951 (GRCm39) N62K probably benign Het
Sit1 A T 4: 43,482,761 (GRCm39) C133S probably benign Het
Susd3 ACC AC 13: 49,391,041 (GRCm39) probably null Het
Svep1 A G 4: 58,064,275 (GRCm39) V3236A probably benign Het
Taf12 G A 4: 132,016,725 (GRCm39) V168I possibly damaging Het
Tas2r139 A T 6: 42,118,526 (GRCm39) R219S probably damaging Het
Tmc1 A T 19: 20,776,400 (GRCm39) V653D probably damaging Het
Utp23 T A 15: 51,741,007 (GRCm39) L30Q 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
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'- AGTGCTTACTGGACATTGGAGAG -3'
(R):5'- ACATACTGATGTGTCCTTGAAGA -3'

Sequencing Primer
(F):5'- ACATTGGAGAGGTCGGTCTTGAC -3'
(R):5'- GTTGGTGTCAAGCTCACAAC -3'
Posted On 2018-08-29