Incidental Mutation 'R7713:G2e3'
ID 594747
Institutional Source Beutler Lab
Gene Symbol G2e3
Ensembl Gene ENSMUSG00000035293
Gene Name G2/M-phase specific E3 ubiquitin ligase
Synonyms D930034K21Rik, 6030408C04Rik
MMRRC Submission 045771-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.689) question?
Stock # R7713 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 51395013-51423769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 51415839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 525 (A525E)
Ref Sequence ENSEMBL: ENSMUSP00000113270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054308] [ENSMUST00000119211] [ENSMUST00000121521]
AlphaFold Q5RJY2
Predicted Effect probably damaging
Transcript: ENSMUST00000054308
AA Change: A502E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054474
Gene: ENSMUSG00000035293
AA Change: A502E

DomainStartEndE-ValueType
SCOP:d1bqk__ 2 74 1e-2 SMART
PHD 80 128 5.2e-3 SMART
RING 81 115 5.28e0 SMART
PHD 143 193 3.13e0 SMART
RING 144 192 4.48e-1 SMART
PHD 237 286 1.18e1 SMART
Pfam:HECT 402 692 2.7e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119211
AA Change: A525E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113270
Gene: ENSMUSG00000035293
AA Change: A525E

DomainStartEndE-ValueType
SCOP:d1bqk__ 2 74 9e-3 SMART
PHD 80 128 5.2e-3 SMART
RING 81 115 5.28e0 SMART
PHD 143 193 3.13e0 SMART
RING 144 192 4.48e-1 SMART
PHD 237 286 1.18e1 SMART
Pfam:HECT 383 717 3.1e-13 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000121521
AA Change: A408E
SMART Domains Protein: ENSMUSP00000113191
Gene: ENSMUSG00000035293
AA Change: A408E

DomainStartEndE-ValueType
SCOP:d1bqk__ 2 74 9e-3 SMART
PHD 80 128 5.2e-3 SMART
RING 81 115 5.28e0 SMART
PHD 143 193 3.13e0 SMART
RING 144 192 4.48e-1 SMART
PHD 237 286 1.18e1 SMART
Pfam:HECT 298 598 4e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Embryos homozygous for a gene trap allele that inactivates this gene die prior to implantation due to massive apoptosis which results in involution of the blastocyst. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,066,173 (GRCm39) S119P possibly damaging Het
Agtpbp1 T A 13: 59,661,966 (GRCm39) I282F probably damaging Het
Armh1 A T 4: 117,071,425 (GRCm39) M355K possibly damaging Het
Cep128 A T 12: 90,986,096 (GRCm39) D1013E probably benign Het
Clock A T 5: 76,393,267 (GRCm39) probably null Het
Cspg4b T G 13: 113,483,075 (GRCm39) V1559G Het
D630003M21Rik G A 2: 158,058,698 (GRCm39) Q401* probably null Het
Dnah17 C A 11: 117,915,997 (GRCm39) V4302L probably benign Het
Drc3 A G 11: 60,261,386 (GRCm39) Y179C probably benign Het
Erbb3 T C 10: 128,410,318 (GRCm39) T647A probably benign Het
Esrp2 T C 8: 106,860,908 (GRCm39) T205A probably benign Het
Fbxw7 T C 3: 84,874,872 (GRCm39) probably null Het
Fmn1 C T 2: 113,356,159 (GRCm39) P965S unknown Het
Fndc7 C T 3: 108,777,979 (GRCm39) V412M possibly damaging Het
Gcfc2 C T 6: 81,918,371 (GRCm39) R354C probably damaging Het
Ggt1 T A 10: 75,421,508 (GRCm39) N510K probably damaging Het
Gnas C T 2: 174,140,820 (GRCm39) T389I unknown Het
Hapln3 C T 7: 78,767,121 (GRCm39) R306H probably benign Het
Hydin T C 8: 111,320,444 (GRCm39) L4496P possibly damaging Het
Iqgap2 T A 13: 95,867,952 (GRCm39) I219L probably benign Het
Kcnj2 T C 11: 110,963,309 (GRCm39) S234P probably benign Het
Lipf T A 19: 33,950,465 (GRCm39) S286T probably damaging Het
Lrrc32 G T 7: 98,148,545 (GRCm39) G442W probably damaging Het
Megf10 GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA GGCAGCAACAGCACCAGCAGCA 18: 57,427,071 (GRCm39) probably benign Het
Mtmr4 T C 11: 87,488,550 (GRCm39) V68A probably damaging Het
Mug2 T C 6: 122,055,754 (GRCm39) S1146P possibly damaging Het
Naa35 T C 13: 59,745,919 (GRCm39) I75T probably benign Het
Nepn T A 10: 52,277,274 (GRCm39) F337I probably benign Het
Nf1 A G 11: 79,316,432 (GRCm39) M496V probably benign Het
Nthl1 A T 17: 24,857,631 (GRCm39) I277F possibly damaging Het
Or10a3 A C 7: 108,479,889 (GRCm39) I308S probably damaging Het
Or4p8 T C 2: 88,728,122 (GRCm39) probably benign Het
Osr1 A T 12: 9,629,253 (GRCm39) Y42F probably damaging Het
Rad54l2 G A 9: 106,594,422 (GRCm39) R369W probably damaging Het
Ryr3 T A 2: 112,465,691 (GRCm39) T4828S probably benign Het
Slc25a54 T A 3: 109,010,133 (GRCm39) C211S probably damaging Het
Ube4b C T 4: 149,483,238 (GRCm39) R10Q possibly damaging Het
Usp9y G A Y: 1,304,411 (GRCm39) Q2440* probably null Het
Yars1 G T 4: 129,104,291 (GRCm39) V312L probably benign Het
Zfp26 G A 9: 20,352,630 (GRCm39) T145I probably benign Het
Zic5 T C 14: 122,701,525 (GRCm39) N402S unknown Het
Other mutations in G2e3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:G2e3 APN 12 51,400,581 (GRCm39) critical splice acceptor site probably null
IGL00793:G2e3 APN 12 51,414,545 (GRCm39) missense probably benign 0.00
IGL02222:G2e3 APN 12 51,410,016 (GRCm39) missense probably damaging 1.00
IGL02335:G2e3 APN 12 51,415,941 (GRCm39) missense probably benign 0.19
IGL03134:G2e3 APN 12 51,410,813 (GRCm39) intron probably benign
Amadeus UTSW 12 51,400,572 (GRCm39) splice site probably null
theophilus UTSW 12 51,403,928 (GRCm39) nonsense probably null
R1868:G2e3 UTSW 12 51,400,412 (GRCm39) missense probably benign 0.44
R2060:G2e3 UTSW 12 51,419,389 (GRCm39) missense probably damaging 1.00
R3814:G2e3 UTSW 12 51,400,444 (GRCm39) missense probably benign 0.28
R4355:G2e3 UTSW 12 51,412,120 (GRCm39) missense probably benign 0.00
R4360:G2e3 UTSW 12 51,410,197 (GRCm39) splice site probably benign
R4903:G2e3 UTSW 12 51,418,413 (GRCm39) missense probably benign 0.23
R4966:G2e3 UTSW 12 51,418,413 (GRCm39) missense probably benign 0.23
R4974:G2e3 UTSW 12 51,415,922 (GRCm39) missense probably benign 0.00
R5399:G2e3 UTSW 12 51,403,977 (GRCm39) critical splice donor site probably null
R5406:G2e3 UTSW 12 51,419,449 (GRCm39) missense probably damaging 0.97
R5739:G2e3 UTSW 12 51,419,287 (GRCm39) missense possibly damaging 0.94
R6225:G2e3 UTSW 12 51,415,919 (GRCm39) missense possibly damaging 0.77
R6625:G2e3 UTSW 12 51,400,572 (GRCm39) splice site probably null
R7458:G2e3 UTSW 12 51,412,290 (GRCm39) missense possibly damaging 0.67
R7529:G2e3 UTSW 12 51,418,387 (GRCm39) missense probably damaging 1.00
R7748:G2e3 UTSW 12 51,418,450 (GRCm39) missense probably benign 0.00
R7998:G2e3 UTSW 12 51,400,624 (GRCm39) missense probably benign 0.04
R8972:G2e3 UTSW 12 51,410,277 (GRCm39) missense possibly damaging 0.90
R9330:G2e3 UTSW 12 51,403,928 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTACCCTGTTTTACTAAAGAATTGAGT -3'
(R):5'- GCTTATTCAGGAGAGGTTAACATTTT -3'

Sequencing Primer
(F):5'- ACTGCATCTAGTGAGTCACG -3'
(R):5'- ACCTCTCAAAAGGTGCCT -3'
Posted On 2019-11-12