Incidental Mutation 'R6625:G2e3'
ID 526322
Institutional Source Beutler Lab
Gene Symbol G2e3
Ensembl Gene ENSMUSG00000035293
Gene Name G2/M-phase specific E3 ubiquitin ligase
Synonyms D930034K21Rik, 6030408C04Rik
MMRRC Submission 044747-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.689) question?
Stock # R6625 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 51395013-51423769 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 51400572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054308] [ENSMUST00000119211] [ENSMUST00000121521]
AlphaFold Q5RJY2
Predicted Effect probably null
Transcript: ENSMUST00000054308
SMART Domains Protein: ENSMUSP00000054474
Gene: ENSMUSG00000035293

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 null
Transcript: ENSMUST00000119211
SMART Domains Protein: ENSMUSP00000113270
Gene: ENSMUSG00000035293

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 probably null
Transcript: ENSMUST00000121521
SMART Domains Protein: ENSMUSP00000113191
Gene: ENSMUSG00000035293

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144767
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 91% (30/33)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Apcdd1 C A 18: 63,084,929 (GRCm39) D375E probably damaging Het
Cacna2d1 A T 5: 16,567,391 (GRCm39) R984W probably null Het
Csmd3 T G 15: 47,470,471 (GRCm39) I3402L probably benign Het
Dnah7a T A 1: 53,604,916 (GRCm39) T1281S probably benign Het
Dnmt3b T C 2: 153,507,233 (GRCm39) I139T probably benign Het
Dtnbp1 T C 13: 45,145,507 (GRCm39) E40G possibly damaging Het
Fam162b C T 10: 51,466,391 (GRCm39) G43R probably damaging Het
Kiss1r G A 10: 79,755,368 (GRCm39) V118I possibly damaging Het
Mre11a T C 9: 14,716,687 (GRCm39) M294T possibly damaging Het
Muc16 A T 9: 18,571,574 (GRCm39) V315D unknown Het
Nelfe C T 17: 35,073,334 (GRCm39) P290S probably benign Het
Or2v2 T A 11: 49,003,896 (GRCm39) Y219F probably damaging Het
Or5a3 T G 19: 12,400,205 (GRCm39) H177Q probably damaging Het
Pcolce2 T A 9: 95,560,492 (GRCm39) C180* probably null Het
Piezo2 A T 18: 63,154,333 (GRCm39) V2482D probably damaging Het
Plagl1 T C 10: 13,003,806 (GRCm39) probably benign Het
Pramel31 T A 4: 144,090,369 (GRCm39) Y470N probably damaging Het
Pramel57 C T 5: 95,669,342 (GRCm39) H124Y possibly damaging Het
Prss48 G T 3: 85,905,373 (GRCm39) Q167K probably benign Het
Saxo4 G A 19: 10,459,100 (GRCm39) P65L probably damaging Het
Scyl1 C A 19: 5,810,854 (GRCm39) V488F probably damaging Het
Sh3pxd2b T A 11: 32,372,594 (GRCm39) L587Q possibly damaging Het
Sim1 A G 10: 50,860,082 (GRCm39) D648G probably benign Het
Snupn G A 9: 56,890,054 (GRCm39) V292I probably benign Het
St6galnac1 T C 11: 116,656,717 (GRCm39) H474R probably damaging Het
Thap12 G A 7: 98,365,277 (GRCm39) V482I probably benign Het
Usp13 T A 3: 32,949,025 (GRCm39) V454D probably damaging Het
Usp40 T C 1: 87,894,935 (GRCm39) I862V probably benign Het
Vmn2r59 A T 7: 41,693,177 (GRCm39) F474L probably benign Het
Zbtb38 T C 9: 96,569,366 (GRCm39) R573G probably damaging Het
Zfp493 C T 13: 67,934,514 (GRCm39) Q156* probably null Het
Zfp873 C A 10: 81,896,138 (GRCm39) P290T probably damaging 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
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
R7713:G2e3 UTSW 12 51,415,839 (GRCm39) missense probably damaging 0.99
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'- TGCACATACACTTAGGAGAAGC -3'
(R):5'- GACTGACTGAAGAACCCTCC -3'

Sequencing Primer
(F):5'- ACTTAGGAGAAGCACTAATCCTATAC -3'
(R):5'- TGACTGAAGAACCCTCCCAAGG -3'
Posted On 2018-06-22